1. Gene
  2. PRKAR1A - protein kinase cAMP-dependent type I regulatory subunit alpha Gene

PRKAR1A - protein kinase cAMP-dependent type I regulatory subunit alpha Gene

Homo sapiens

Also known as CAR; CNC; CNC1; PKR1; TSE1; ADOHR; PPNAD1; PRKAR1; ACRDYS1

Gene ID: 5573 | Gene type: protein coding

About PRKAR1A

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,413,623-68,551,316 (from NCBI)

This gene has 24 transcripts (splice variants), 245 orthologues, 4 paralogues and is associated with 101 phenotypes. Ubiquitous expression in heart (RPKM 107.2), thyroid (RPKM 76.1) and 25 other tissues.

Summary

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]

PRKAR1A Products(8)

mRNA Protein Name
NM_001276289.2 NP_001263218.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_001276290.1 NP_001263219.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform b
NM_001278433.2 NP_001265362.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_001369389.1 NP_001356318.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_001369390.1 NP_001356319.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_002734.5 NP_002725.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_212471.3 NP_997636.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_212472.2 NP_997637.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables cAMP-dependent protein kinase inhibitor activity IDA
IDA: Inferred from direct assay
21812984 GOA
enables cAMP-dependent protein kinase regulator activity IDA
IDA: Inferred from direct assay
21812984 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11414803 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
25097019 GOA
enables protein kinase A catalytic subunit binding IPI
IPI: Inferred from physical interaction
17911601 GOA
enables ubiquitin protein ligase binding IDA
IDA: Inferred from direct assay
21423175 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of activated T cell proliferation IMP
IMP: Inferred from mutant phenotype
17911601 GOA
involved in negative regulation of cAMP/PKA signal transduction IDA
IDA: Inferred from direct assay
21812984 GOA
acts upstream of negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
28159925 GOA
Cellular Component GO Annotation Evidence Reference Source
colocalizes with axoneme IDA
IDA: Inferred from direct assay
12475942 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
17911601 GOA
colocalizes with immunological synapse IDA
IDA: Inferred from direct assay
17911601 GOA
part of nucleotide-activated protein kinase complex IDA
IDA: Inferred from direct assay
21812984 GOA
located in plasma membrane raft IDA
IDA: Inferred from direct assay
17911601 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
25097019 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRKAR1A Protein Structure

RIIa

RIIa: Regulatory subunit of type II PKA R-subunit (25 - 62)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (156 - 236)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (274 - 361)

  • 0
  • 100
  • 200
  • 300
  • 381 a.a.
Protein Preferred Names Protein Names

cAMP-dependent protein kinase type I-alpha regulatory subunit

Carney complex type 1

Recombinant PRKAR1A Proteins

Cat. No. Product Name Accession Purity
HY-P71103 PRKAR1A Protein, Human (HEK293, His) P10644 (E2-V381) ≥95%

Related Diseases

Diseases Alias
Myxoma, Intracardiac

Atrial Myxoma, Familial

Intracardiac Myxoma

Familial Atrial Myxoma

INTMYX

Acrodysostosis 1 With Or Without Hormone Resistance

ACRDYS1

Adohr

Acrodysostosis 1, With Or Without Hormone Resistance

Arkless-Graham Syndrome

Maroteaux-Malamut Syndrome

Acrodysostosis

Carney Complex, Type 1

Carney Syndrome

Car

Name Syndrome

CNC1

Carney Myxoma-Endocrine Complex

Myxoma, Spotty Pigmentation, And Endocrine Overactivity

Lamb Syndrome

Carney Complex 1

Carney Complex

Pigmented Nodular Adrenocortical Disease, Primary, 1

PPNAD1

Pigmented Micronodular Adrenocortical Disease, Primary, 1

Cushing Syndrome, Adrenal, Due To Ppnad1

Adrenocortical Nodular Dysplasia, Primary

Primary Pigmented Nodular Adrenocortical Disease 1

Adrenal Cushing Syndrome Due To Ppnad1

Primary Pigmented Micronodular Adrenocortical Disease 1

Primary Pigmented Nodular Adrenocortical Disease-1

Adrenocortical Disease, Nodular, Pigmented, Primary, Type 1

Acrodysostosis

Acrodysplasia

Arkless-Graham Syndrome

Maroteaux-Malamut Syndrome

Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome

Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome

Carney Complex Variant

Carney Complex

Carney Syndrome

Carney Complex, Type 1

Lamb Syndrome

Name Syndrome

Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

Carney Complex - Trismus - Pseudocamptodactyly Syndrome

Carney Complex, Type 2

Car

Cnc1

Carney Myxoma-Endocrine Complex

Myxoma - Spotty Pigmentation - Endocrine Overactivity

Myxoma, Spotty Pigmentation, And Endocrine Overactivity

Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

Carney Complex-Trismus-Pseudocamptodactyly Syndrome

CACOV

Primary Pigmented Nodular Adrenocortical Disease

Ppnad

Primary Pigmented Nodular Adrenal Dysplasia

Pigmented Nodular Adrenocortical Disease, Primary, 2

Pigmented Nodular Adrenocortical Disease, Primary, 1

Amelogenesis Imperfecta Hypoplastic Type, Ig

Amelogenesis Imperfecta Nephrocalcinosis

Amelogenesis Imperfecta And Nephrocalcinosis

Absent Enamel, Nephrocalcinosis And Apparently Normal Calcium Metabolism

Ers

Enamel Renal Syndrome

Generalized Enamel Hypoplasia And Renal Dysfunction

Ai1g

Enamel-Renal Syndrome

Amelogenesis Imperfecta, Type Ig

Enamel-Renal Syndrome

Ers

Amelogenesis Imperfecta Type 1g

AI1G

Enamel-Renal-Gingival Syndrome

Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome

Aigfs

Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis

Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis

Amelogenesis Imperfecta Type Ig

Amelogenesis Imperfecta-Nephrocalcinosis Syndrome

Amelogenesis Imperfecta 1g

Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis

Amelogenesis Imperfecta Nephrocalcinosis

Usher Syndrome, Type Iv

USH4

Usher Syndrome, Type 4

Usher Syndrome 4

Acrodysostosis With Multiple Hormone Resistance
Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Lentigines

Lentigo

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Arrhythmogenic Right Ventricular Dysplasia 10

ARVD10

Arrhythmogenic Right Ventricular Cardiomyopathy 10

Arvc10

Familial Arrhythmogenic Right Ventricular Dysplasia 10

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10

Multiple Endocrine Neoplasia

Men

Multiple Endocrine Adenomatosis

Multiple Endocrine Neoplasia Syndrome

Adenomatosis, Familial Endocrine

Endocrine Neoplasia, Multiple

Familial Endocrine Adenomatosis

Mea

Multiple Endocrine Neoplasms

Multiple Endocrine Neoplasia Type 1

Acth-Independent Cushing Syndrome

Adrenal Cushing Syndrome

Adrenocorticotropic Hormone-Independent Cushing Syndrome

Corticotropin-Independent Cushing Syndrome

Adrenal Cortical Adenoma

Adrenocortical Adenoma

Adenoma Adrenocortical

Neurilemmoma

Schwannoma

Benign Schwannoma

Neurilemoma

Peripheral Fibroblastoma

Psammomatous Schwannoma

Neurolemmoma

Schwannomas

Hypocalcemia, Autosomal Dominant 1

Autosomal Dominant Hypocalcemia

Autosomal Dominant Hypocalcemia 1

HYPOC1

Hypocalcemia, Autosomal Dominant

Hypercalciuric Hypocalcemia

Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

Familial Hypocalcemia

Hypocalcemia, Familial

Hypoc

Adh

Autosomal Dominant Hypoparathyroidism

Familial Hypercalciuric Hypocalcemia

Ad Hypocalcemia

Autosomal Dominant Hypocalcemia With Bartter Syndrome

Hypoparathyroidism - Autosomal Dominant

Hypocalcemia

Conn'S Syndrome

Cushing Syndrome

Hyperaldosteronism

Primary Hyperaldosteronism

Hypercortisolism

Primary Aldosteronism

Cushing'S Syndrome

Adrenal Gland Hyperfunction

Conn Syndrome

Hyperadrenalism

Ectopic Acth Syndrome

Hyperadrenocorticism

Cushing Disease

Cushing'S Disease

Adrenal Cortex Adenoma

Corticotroph Pituitary Adenoma

Pituitary Corticotroph Micro-Adenoma

Pituitary-Dependent Cushing Syndrome

Pituitary Acth Hypersecretion

Acth Syndrome, Ectopic

Acth-Secreting Pituitary Adenoma

Adrenal Hyperfunction Resulting From Pituitary Acth Excess

Ectopic Adrenocorticotropic Hormone Syndrome

Nodular Primary Adrenocortical Dysplasia

Pituitary Dependent Cushing Syndrome

Pituitary Cushing Syndrome

Pituitary-Dependant Cushing Syndrome

Pituitary-Dependant Hypercortisolism

Pituitary-Dependant Hypercortisolism Disorder

Aldosteronism Primary

Acth Syndrome Ectopic

Adrenal Cushing'S Syndrome

Adrenal Cortical Adenoma

Cushing Syndrome Nos

Cortisol Hypersecretion

Corticoadrenal Hypersecretion

Cushing Syndrome Secondary To Ectopic Acth-Secretion

Ectopic Cushing Syndrome

Hypercortisolism Due To Nonpituitary Tumour

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

Idiopathic Aldosteronism

Aldosteronism

Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

Primary Aldosteronism Due To Adrenal Hyperplasia

Breast Ductal Adenoma
Breast Adenoma

Ademoma - Breast

Sertoli Cell Tumor

Tubular Androblastoma

Hyperparathyroidism, Neonatal Severe

NSHPT

Neonatal Severe Primary Hyperparathyroidism

Nsph

Nhpt

Hyperparathyroidism, Neonatal

Hyperparathyroidism, Neonatal Severe Primary

Neonatal Severe Hyperparathyroidism

Hyperparathyroidism, Severe, Neonatal

Neonatal Hyperparathyroidism

Melanotic Neurilemmoma

Melanotic Schwannoma

Pigmented Neurilemmoma

Pigmented Schwannoma

Prolactinoma

Prolactin-Producing Pituitary Gland Adenoma

Prolactin-Secreting Pituitary Adenoma

Forbes-Albright Syndrome

Lactotroph Adenoma

Prl-Secreting Pituitary Adenoma

Prloma

Pituitary Lactotrophic Adenoma

Familial Prolactinoma

Pituitary Adenoma, Prolactin-Secreting

Prolactinoma Of Pituitary Gland

PSPA

Hyperparathyroidism

Hyperparathyroidism And Other Disorders Of Parathyroid Gland

Parathyroid Hyperfunction

Hpth - [Hyperparathyroidism]

Parathyroid Gland Hyperfunction

Parathyroid Glandular Hyperfunction

Growth Hormone Secreting Pituitary Adenoma

Somatotroph Adenoma

Growth Hormone-Secreting Pituitary Adenoma

Growth Hormone Producing Adenoma Of The Pituitary

Growth Hormone Secreting Adenoma Of Pituitary

Thyroid Tumor
Hypoparathyroidism

Hypoparathyroidism, Idiopathic

Parathyroid, Underactivity Of

Syndrome With Hypoparathyroidism

Deficiency Of Parathyroid Hormone

Parathyroid Gland Insufficiency

Parathyroid Insufficiency

Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Primary Hyperparathyroidism

Familial Primary Hyperparathyroidism

Hyperparathyroidism, Primary

Hyperparathyroidism Primary

Hypocalciuric Hypercalcemia, Familial, Type 1

Familial Benign Hypercalcemia

Familial Hyperparathyroidism

Parathyroid Enlargement

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1

MEN1

Wermer Syndrome

Multiple Endocrine Neoplasia 1

Multiple Endocrine Neoplasia, Type 1

Men I

Endocrine Adenomatosis, Multiple

Mea I

Men Type I

Wermer'S Syndrome

Men1 Syndrome

Multiple Endocrine Adenomatosis

Endocrine Adenomatosis Multiple

Men 1

Familial Multiple Endocrine Neoplasia Type I

Neoplasia, Endocrine, Multiple, Type 1

Multiple Endocrine Neoplasia

Adrenal Adenoma

Adenoma Of The Adrenal Gland

Adrenal Incidentaloma

Adrenal Cortical Adenoma

Adrenocortical Adenoma

Secondary Hyperparathyroidism

Hyperparathyroidism Secondary

Hyperparathyroidism, Secondary

Secondary Hyperparathyroidism Nec

Pseudohypoparathyroidism

Familial Pseudohypoparathyroidism

Parathyroid Hormone Resistant Hypoparathyroidism

Php - [Pseudohypoparathyroidism]

Constitutional Chronic Hypocalcaemia

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma

Adrenal Cortex Carcinoma

Carcinoma Of The Adrenal Cortex

Acc

Adrenocortical Cancer

Carcinoma Adrenocortical

Adenoma

Acinar Cell Adenoma

Adenomas

Acinic Cell Adenoma

Heart Cancer

Malignant Neoplasm Of Heart

Heart Neoplasm

Cardiac Tumor

Malignant Cardiac Tumor

Tumour Of Heart

Heart Neoplasms

Cardiac Carcinoma

Pituitary Adenoma

Adenoma Of The Pituitary Gland

Pituitary Adenomas

Adenoma, Pituitary

Pituitary Gland Adenoma

Pituitary Neoplasms

Adrenal Cortex Disease

Adrenal Cortex Diseases

Parathyroid Adenoma

Adenoma Of Parathyroid

Adenoma Of The Parathyroid Gland

Parathyroid Gland Adenoma

Adrenal Carcinoma

Adrenal Cancer

Adrenal Gland Cancer

Malignant Neoplasm Of Adrenal Gland

Adrenal Gland Neoplasms

Carcinoma Of The Adrenal Gland

Adrenal Neoplasm

Malignant Adrenal Tumor

Neoplasm Of Adrenal Gland

Tumor Of The Adrenal Gland

Adrenal Gland Neoplasm

Adrenocortical Carcinoma

Adrenal Gland Malignancy

Suprarenal Cancer

Malignant Neoplasm Of Suprarenal Gland

Malignant Neoplasm Of Adrenal Gland, Unspecified

Malignant Tumour Of Adrenal Gland

Suprarenal Gland Cancer

Primary Malignant Neoplasm Of Adrenal Gland

Dysostosis

Dysostoses

Acth-Independent Macronodular Adrenal Hyperplasia

Acth-Independent Macronodular Adrenocortical Hyperplasia

Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia

Corticotropin-Independent Macronodular Adrenal Hyperplasia

Cushing Syndrome Due To Macronodular Adrenal Hyperplasia

AIMAH1

Aimah

Massive Macronodular Adrenocortical Disease

Mmad

Primary Macronodular Adrenal Hyperplasia

Cushing Syndrome, Adrenal, Due To Aimah

Primary Bilateral Macronodular Adrenal Hyperplasia

Acth-Independent Macronodular Adrenal Hyperplasia 1

Acth-Independent Cushing Syndrome

Adrenal Cushing Syndrome Due To Aimah

Acth-Independent Macronodular Adrenal Hyperplasia 2

Pituitary Cancer

Pituitary Carcinoma

Malignant Pituitary Neoplasm

Malignant Tumor Of Pituitary Gland

Neoplasm Of Pituitary Gland

Pituitary Gland Cancer

Pituitary Gland Neoplasm

Pituitary Neoplasm

Carcinoma Of The Pituitary Gland

Neoplasm Of The Pituitary Gland

Pituitary Neoplasms

Malignant Neoplasm Of Pituitary Gland

Dicer1 Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome

Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome

Ppb Familial Tumor Susceptibility Syndrome

Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility

Dicer1-Related Pleuropulmonary Blastoma

Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome

Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome

Ppbftds

Doid:0081063

Peutz-Jeghers Syndrome

PJS

Polyposis, Hamartomatous Intestinal

Polyps-And-Spots Syndrome

Lentiginosis, Perioral

Periorificial Lentiginosis Syndrome

Hamartomatous Intestinal Polyposis

Hamartomatous Polyp

Colonic Hamartomatous Polyp

Gastric Peutz-Jeghers Polyp

Peutz Jeghers Colon Polyp

Peutz Jeghers Polyp

Peutz-Jeghers Polyp Of Small Intestine

Peutz-Jeghers Small Bowel Hamartoma

Peutz Jeghers Polyposis

Intestinal Polyposis-Cutaneous Pigmentation Syndrome

Peutz-Jeghers Polyposis

Polyposis, Intestinal, Ii

Intestinal Hamartomatous Polyposis

Peutz-Jeghers Polyp

Peutz-Jeghers Polyp Of The Stomach

Peutz Jehgers Polyp

Peutz-Jeghers Polyps Of Small Bowel

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Thyroid Carcinoma, Familial Medullary

Medullary Thyroid Carcinoma

Familial Medullary Thyroid Carcinoma

MTC

Medullary Thyroid Cancer

Fmtc

Mtc1

Thyroid Cancer, Medullary

Thyroid Carcinoma, Medullary

Familial Mtc

Thyroid Carcinoma Medullary

Carcinoma, Thyroid, Medullary, Familial

Medullary Carcinoma Of Thyroid

Medullary Carcinoma With Amyloid Stroma, Unspecified Site

Medullary Carcinoma With Amyloid Stroma Of Thyroid

Mccune-Albright Syndrome

Mass Syndrome

Polyostotic Fibrous Dysplasia

MAS

Fibrous Dysplasia Of Bone

Albright Syndrome

Mass Phenotype

Overlap Connective Tissue Disease

Mccune Albright Syndrome

Osteitis Fibrosa Disseminata

OCTD

Albright'S Disease

Pfd

Pofd

Albright'S Syndrome

Mccune-Albright Syndrome, Somatic, Mosaic

Albright'S Disease Of Bone

Albright'S Syndrome With Precocious Puberty

Albright-Mccune-Sternberg Syndrome

Albright-Sternberg Syndrome

Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty

Gonadotropin-Independent Female-Limited Sexual Precocity

Fibrous Dysplasia Polyostotic

Fibrous Dysplasia, Polyostotic

Brachydactyly
Pseudohypoparathyroidism, Type Ia

Albright'S Hereditary Osteodystrophy

Albright Hereditary Osteodystrophy

Pseudohypoparathyroidism Type 1a

PHP1A

Albright Hereditary Osteodystrophy With Multiple Hormone Resistance

Pseudohypoparathyroidism Ia

AHO

Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy

Pseudo-Pseudohypoparathyroidism

Pseudohypoparathyroidism Type I A

Php Ia

Pseudopseudohypoparathyroidism

Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

Pphp

Pseudopseudo-Hypoparathyroidism

Aho-Php Syndrome Ia

Albright Hereditary Osteodystrophy-Php Syndrome Ia

Pseudohypoparathyroidism 1a

Pseudohypoparathyroidism

Multiple Endocrine Neoplasia, Type Iv

Multiple Endocrine Neoplasia Type 4

MEN4

Multiple Endocrine Neoplasia 4

Neoplasia, Endocrine, Multiple, Type Iv

Adrenal Gland Disease

Adrenal Gland Diseases

Adrenal Gland Disorders

Pulmonary Plasma Cell Granuloma

Plasma Cell Granuloma, Pulmonary

Granuloma, Plasma Cell, Pulmonary

Lymphocytic Pseudotumor Of Lung

Sclerosing Hemangiocytoma Of Lung

Hypertension And Brachydactyly Syndrome

Brachydactyly With Hypertension

Bilginturan Syndrome

HTNB

Brachydactyly-Arterial Hypertension Syndrome

Brachydactyly, Type E, With Short Stature And Hypertension

Bilginturan Brachydactyly

Brachydactyly Type E With Short Stature And Hypertension

Type E Brachydactyly With Short Stature And Hypertension

Brachydactyly Type E, With Short Stature And Hypertension

Hypertension With Brachydactyly

Hormone Producing Pituitary Cancer

Growth Hormone Producing Pituitary Tumor

Pituitary Tumors, Hormone Producing

Somatotropinoma

Growth Hormone-Producing Pituitary Gland Neoplasm

Basophil Adenoma

Adenoma, Basophil

Pituitary Gland Basophilic Adenoma

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia

Hydranencephaly With Abnormal Genitalia

Xlag

Xlisg

X-Linked Lissencephaly With Ambiguous Genitalia

LISX2

Lissencephaly, X-Linked 2

X-Linked Lissencephaly 2

X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome

Xlag Syndrome

Lissencephaly, X-Linked, With Ambiguous Genitalia

Xlis2

X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies

X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome

Xlag Syndrome

Lissencephaly X-Linked With Ambiguous Genitalia

Lissencephaly, X-Linked, Type 2

Chromosome Xq26.3 Duplication Syndrome

Hypothyroidism, Congenital, Nongoitrous, 1

Tsh Resistance

CHNG1

Hypothyroidism Due To Tsh Receptor Mutations

Thyrotropin Resistance

Thyroid-Stimulating Hormone

Rtsh

Hypothyroidism Due To Unresponsiveness To Thyrotropin

Congenital Nongoitrous Hypothyroidism 1

Thyroid-Stimulating Hormone, Resistance To

Hypothyroidism, Nonautoimmune

Hypothyroidism, Congenital, Due To Tsh Resistance

Hypothyroidism, Congenital, Non-Goitrous, 1

Congenital Hypothyroidism Due To Tsh Resistance

Non-Autoimmune Hypothyroidism

Thyroid-Stimulating Hormone Resistance

Hypothyroidism, Congenital, Nongoitrous, Type 1

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid Hormone Resistance Syndrome

Pseudopseudohypoparathyroidism

PPHP

Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

Normocalcemic Pseudohypoparathyroidism

Aho-Pphp Syndrome

Albright Hereditary Osteodystrophy-Pphp Syndrome

Pseudohypoparathyroidism

Hyperpituitarism
Meningeal Melanocytoma

Leptomeningeal Melanocytoma

Melanocytoma Of Meninges

Fibrolamellar Carcinoma

Fibrolamellar Hepatocellular Carcinoma

Fhcc

Fibrolamellar Hepatocarcinoma

Hepatocellular Carcinoma, Fibrolamellar

Oncocytic Hepatocellular Tumor

Eosinophilic Glassy Cell Hepatoma

Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis

Fl-Hcc

Fibrolamellar Oncocytic Hepatoma

Hepatocellular Carcinoma With Increased Stromal Fibrosis

Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma

Functioning Pituitary Adenoma

Secretory Adenoma Of The Pituitary Gland

Endocrine Active Pituitary Adenoma

Secreting Pituitary Adenoma

Pituitary Adenoma, Functioning

Breast Benign Neoplasm

Benign Tumour Of Breast

Benign Neoplasm Of Female Breast

Thoracic Benign Neoplasm

Benign Neoplasm Of Thorax

Arthrogryposis, Distal, Type 7

Hecht Syndrome

Trismus-Pseudocamptodactyly Syndrome

Distal Arthrogryposis Type 7

Dutch-Kentucky Syndrome

DA7

Hecht-Beals Syndrome

Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons

Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons

Arthrogryposis Distal Type 7

Trismus Pseudocamptodactyly Syndrome

Arthrogryposis, Distal, 7

Sex Cord-Gonadal Stromal Tumor

Sex Cord-Gonadal Stromal Tumour

Sex Cord Stromal Tumour

Sex Cord-Stromal Neoplasm

Specialized Gonadal Neoplasm

Specialized Gonadal Tumor

Specialized Gonadal Tumour

Sex Cord-Gonadal Stromal Tumors

Sex Cord-Stromal Tumor

Malignant Testicular Sex Cord-Stromal Tumor

Sex Cord Stromal Tumor Of Testis

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Acth-Secreting Pituitary Adenoma

Acth-Producing Pituitary Adenoma

Corticotroph Adenoma

Corticotropinoma

Pituitary-Dependent Cushing'S Disease

Adrenal Gland Hyperfunction

Cushing Syndrome

Pituitary Gland Disease

Pituitary Diseases

Pituitary Dysfunction

Pituitary Disease

Pituitary Deficiency

Pituitary Disorders

Osseous Heteroplasia, Progressive

Progressive Osseous Heteroplasia

POH

Osteoma Cutis

Familial Ectopic Ossification

Ectopic Ossification Familial Type

Ectopic Ossification

Heterotopic Ossification

Ectopic Ossification, Familial

Cutaneous Ossification

Myositis Ossificans Progressiva

Osteodermia

Osteosis Cutis

Ossification Heterotopic

Heteroplasia, Osseous, Progressive

Fibrodysplasia Ossificans Progressiva

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Endocrine Organ Benign Neoplasm
Neurilemmomatosis

Schwannomatosis

Neurofibromatosis Type 3

Nf3

Neurilemmomatosis Congenital Cutaneous

Neurinomatosis

Congenital Cutaneous Neurilemmomatosis

Multiple Neurilemmomas

Multiple Schwannomas

Neurilemmomatosis, Congenital Cutaneous

Schwannomatosis 1

Neurofibromatosis 3

Mixed Central And Peripheral Neurofibromatosis

Nf3 - [Neurofibromatosis Type 3]

Skin Tag

Fibroepithelial Polyp

Fibroepithelial Polyp Of Skin

Soft Fibroma

Skin Tags

Cutaneous Tag

Gardner Fibroma

Acrochordon

Fibroma Molle

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Pseudohypoparathyroidism, Type Ib

Pseudohypoparathyroidism Type 1b

PHP1B

Pseudohypoparathyroidism Ib

Pseudohypoparathyroidism Type Ib

Php Ib

Pseudohypoparathyroidism 1b

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris PRKAR1A VGNC VGNC:54342
Rattus norvegicus PRKAR1A RGD RGD:3391
Macaca mulatta PRKAR1A VGNC VGNC:99211
Bos taurus PRKAR1A VGNC VGNC:33324
Felis catus PRKAR1A VGNC VGNC:69050
Mus musculus PRKAR1A MGD MGI:104878
Others PRKAR1A NCBI