1. Gene
  2. PTPN22 - protein tyrosine phosphatase non-receptor type 22 Gene

PTPN22 - protein tyrosine phosphatase non-receptor type 22 Gene

Homo sapiens

Also known as LYP; PEP; LYP1; LYP2; PTPN8; PTPN22.5; PTPN22.6

Gene ID: 26191 | Gene type: protein coding

About PTPN22

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:113,813,811-113,871,759 (from NCBI)

This gene has 11 transcripts (splice variants), 125 orthologues, 35 paralogues and is associated with 9 phenotypes. Biased expression in bone marrow (RPKM 9.6), lymph node (RPKM 7.9) and 13 other tissues.

Summary

This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine Phosphatase family. The encoded protein is a lymphoid-specific intracellular Phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]

PTPN22 Products(4)

mRNA Protein Name
NM_001193431.2 NP_001180360.1 tyrosine-protein phosphatase non-receptor type 22 isoform 3
NM_001308297.1 NP_001295226.1 tyrosine-protein phosphatase non-receptor type 22 isoform 4
NM_012411.5 NP_036543.4 tyrosine-protein phosphatase non-receptor type 22 isoform 2
NM_015967.8 NP_057051.4 tyrosine-protein phosphatase non-receptor type 22 isoform 1

PTPN22 Protein Structure

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (54 - 288)

  • 0
  • 200
  • 400
  • 600
  • 807 a.a.
Protein Preferred Names Protein Names

tyrosine-protein phosphatase non-receptor type 22

PEST-domain phosphatase

Related Diseases

Diseases Alias
Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Vitiligo

Generalized Vitiligo

VAMAS6

VTLG

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Hypoadrenocorticism, Familial

Addison Disease

Primary Adrenocortical Insufficiency

Addison'S Disease

Adrenal Gland Hypofunction

Adrenal Hypoplasia

Adrenal Aplasia

Addison Disease, Chronic Adrenal Insufficiency

Primary Hypoadrenalism

Hypoadrenocorticism Familial

Autoimmune Addison Disease

Autoimmune Adrenalitis

Classic Addison Disease

Primary Addison Disease

Addisons Disease

Addison Disease, Susceptibility To

Autoimmune Primary Adrenal Insufficiency

Addison'S Disease Due To Autoimmunity

Vogt-Koyanagi-Harada Disease

Uveomeningoencephalitic Syndrome

Uveomenigitic Syndrome

Vogt-Koyanagi-Harada Syndrome

Harada'S Disease

Vogt-Koyanagi Syndrome

Vkh Disease

Vkh Syndrome

Vkh

Temporal Arteritis

Polymyalgia Rheumatica

Giant Cell Arteritis

Cranial Arteritis

Horton Disease

Gca

Horton'S Disease

Rhizomelic Pseudopolyarthritis

Arteritis Cranialis

Arteritis Temporalis

Horton'S Arteritis

Horton'S Giant Cell Arteritis

Horton'S Temporal Arteritis

Horton'S Syndrome

Gca - [Giant Cell Arteritis]

Senile Arthritis

Polymyalgia Arteritica

Pmr - [Polymyalgia Rheumatica]

Forestier-Certonciny Syndrome

Rheumatic Polymyalgia

Polymyalgia

Hashimoto Thyroiditis

Autoimmune Thyroiditis

Hashimoto Struma

Hashimoto'S Thyroiditis

Chronic Lymphocytic Thyroiditis

Lymphocytic Thyroiditis

Hashimoto Disease

Ht

Hashimoto'S Disease

Hashimoto'S Syndrome

Hypothyroidism, Autoimmune

Autoimmune Chronic Lymphocytic Thyroiditis

Chronic Lymphocytic Thyroiditides

Hashimoto Syndrome

Hashimotos Thyroiditis

Hashimoto Thyroiditis, Susceptibility To

Thyroiditis, Autoimmune

Lymphomatous Thyroiditis

Lymphoid Thyroiditis

Chronic Lymphadenoid Thyroiditis

Autoimmune Lymphocytic Chronic Thyroiditis

Goitre Lymphomatosa

Hashitoxicosis

Hashimoto Hypothyroidism

Lymphadenoid Goitre

Struma Lymphomatosa

Hyperthyroidism With Hashimoto Disease

Hashimoto Thyrotoxicosis

Thyrotoxicosis Due To Hashimoto Thyroiditis

Struma Lymphomatosis

Lymphadenoid Struma

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Granulomatosis With Polyangiitis

GPA

Wegener Granulomatosis

Wegener Granulomatosis, Formerly

Midline Granulomatosis

Wg, Formerly

Necrotizing Respiratory Granulomatosis

Wg

Wegeners Granulomatosis

Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

Graves' Disease

Graves Disease

Exophthalmic Goiter

Basedow'S Disease

Grave'S Disease

Basedow Disease

Toxic Diffuse Goiter

Graves' Hyperthyroidism

Parry Disease

Autoimmune Hyperthyroidism

Toxic Multinodular Goiter

Oligoarticular Juvenile Idiopathic Arthritis

Oligoarticular Jia

Pauciarticular Chronic Arthritis

Juvenile Pauciarticular Chronic Arthritis

Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

Juvenile Polyarthritis Without Rheumatoid Factor

Juvenile Rheumatoid Factor-Negative Polyarthritis

Rheumatoid Factor-Negative Polyarticular Jia

Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Scleritis
Psoriatic Arthritis

Psoriatic Arthritis, Susceptibility To

Psoriatic Arthropathy

Arthropathic Psoriasis

Arthritis, Psoriatic

Arthritis Psoriatica

PSORAS

Arthritic Psoriasis

Psoriasis Arthropathica

Arthritis Psoriatic

Arthritis, Psoriatic, Susceptibility To

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Vitiligo

VAMAS1

Slev1

Vtlg

Systemic Lupus Erythematosus, Vitiligo-Related

Vitiligo-Associated Multiple Autoimmune Disease 1

Systemic Lupus Erythematosus Vitiligo-Related

Alopecia Areata

Aa

Alopecia Celsi

Alopecia Circumscripta

Cazenave'S Vitiligo

Celsus' Vitiligo

Diffuse Alopecia

Jonston'S Alopecia

Marginal Alopecia

Pseudopelade

Circumscribed Alopecia

Alopecia Cicatrisata

Patchy Alopecia

Alopecia

Aa - [Alopecia Areata]

Pelade

Type 1 Diabetes Mellitus 5

Diabetes Mellitus, Insulin-Dependent, 5

Latent Autoimmune Diabetes In Adults

IDDM5

Insulin-Dependent Diabetes Mellitus 5

T1D5

Lada

Type 1.5 Diabetes

Diabetes Mellitus, Insulin-Dependent, Type 5

Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous

Cmc

Candidiasis Chronic Mucocutaneous

Lymphopenia

Lymphocytopenia

Thyroiditis

Inflammation Of Thyroid

Thyroiditis Nos

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Crohn'S Disease

Crohn Disease

Pediatric Crohn'S Disease

Regional Enteritis

Crohn'S Disease Of Large Bowel

Granulomatous Colitis

Enteritis, Granulomatous

Enteritis

Crohn'S Disease Of Colon

Colitis, Granulomatous

Crohn'S Enteritis

Enteritis, Regional

Ileitis

Adenoviral Enteritis

Acute Gastroenteropathy Due To Norwalk Agent

Viral Gastroenteritis Due To Norwalk Agent

Winter Vomiting

Epidemic Winter Vomiting Disease

Small Round Structured Virus Enteritis

Epidemic Vomiting Syndrome

Epidemic Vomiting

Epidemic Nausea

Epidemic Viral Gastroenteritis Due To Norwalk Virus

Noroviral Enteritis

Crohn Disease Nos

Crohns

Cd - [Crohn'S Disease]

Regional Enteritis Of Bowel

Crohn'S Regional Enteritis

Cobble-Stone Appearance Of Intestine

Intestinal Ulcer And Erosion Due To Crohn Disease

Granulomatous Enteritis

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Chronic Urticaria

Urticaria Chronic

Chronic Spontaneous Urticaria

Chronic Ordinary Urticaria

Adrenal Cortical Hypofunction

Adrenal Cortical Insufficiency

Corticoadrenal Insufficiency

Myasthenia Gravis

MG

Acquired Myasthenia

Autoimmune Myasthenia Gravis

Erb-Goldflam Disease

Mg - [Myasthenia Gravis]

Myasthenia Gravis Nos

Myasthenia

Diabetes Mellitus

Diabetes

Turner Syndrome

Monosomy X

Gonadal Dysgenesis Turner Type

Ullrich-Turner Syndrome

Bonnevie-Ullrich Syndrome

Karyotype 45, X

Genital Dwarfism, Turner Type

Gonadal Dysgenesis

45,X

Turner'S Syndrome

Gonadal Dysgenesis - Turner

Monosomy X Syndrome

Xo Syndrome

Genital Dwarfism

45, X Syndrome

Bonnevie-Ulrich Syndrome

Chromosome X Monosomy X

Schereshevkii Turner Syndrome

Turner Varny Syndrome

Ts

45,X Syndrome

45,X/46,Xx Syndrome

Turners Syndrome

Gonadal Dysgenesis, 45,X

X0 Syndrome

Autoimmune Hepatitis

Aih

Hepatitis, Autoimmune

Autoimmune Chronic Active Hepatitis

Autoimmune Hepatitis With Centrilobular Necrosis

Autoimmune Chronic Hepatitis

Hepatitis Autoimmune

Psoriasis
Type 1 Diabetes Mellitus 2

Diabetes Mellitus, Noninsulin-Dependent, 1

Diabetes Mellitus, Insulin-Dependent, 2

IDDM2

Insulin-Dependent Diabetes Mellitus 2

NIDDM1

Diabetes Mellitus, Noninsulin-Dependent 1

T1D2

Type 2 Diabetes Mellitus 1

T2D1

Noninsulin-Dependent Diabetes Mellitus 1

Diabetes Mellitus, Non-Insulin-Dependent, 1

Type 2 Diabetes Mellitus 1, Susceptibility To

Diabetes Mellitus, Insulin-Dependent, Type 2

Diabetes Mellitus, Non-Insulin-Dependent

Autoimmune Disease Of Endocrine System
Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Autoimmune Polyendocrine Syndrome, Type Ii

Schmidt Syndrome

Autoimmune Polyendocrine Syndrome Type 2

APS2

Autoimmune Polyglandular Syndrome Type 2

Diabetes Mellitus, Addison Disease, Myxedema

Polyglandular Autoimmune Syndrome, Type Ii

Pga Ii

Polyendocrine Autoimmune Syndrome, Type Ii

Aps Ii

Autoimmune Polyglandular Syndrome Type Ii

Diabetes Mellitus, Addison'S Disease, Myxedema

Multiple Endocrine Deficiency Syndrome, Type 2

Pga 2

Pga-Ii

Polyglandular Autoimmune Syndrome, Type 2

Polyglandular Deficiency Syndrome Type 2

Schmidt'S Syndrome

Autoimmune Polyendocrinopathy Type 2

Aps Type 2

Autoimmune Thyroid Disease And/Or Type 1 Diabetes-Addison Disease Syndrome

Autoimmune Syndrome Type Ii Polyglandular

Autoimmune Syndrome Type Ii, Polyglandular

Pernicious Anemia

Anemia, Pernicious

Anemia Pernicious

Pernicious Anaemia

Addison'S Anaemia

Biermer'S Anaemia

Biermer'S Anemia

Acquired Pernicious Anemia

Addison-Biermer Anemia

Addisonian Anemia

Biermer Anemia

Biermer'S Disease

Juvenile Onset Pernicious Anemia

Biermer Disease

Biermer-Addison Disease

Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Adrenal Cortex Disease

Adrenal Cortex Diseases

Juvenile Rheumatoid Arthritis

Juvenile Idiopathic Arthritis

Juvenile Chronic Polyarthritis

Monarticular Juvenile Rheumatoid Arthritis

Pauciarticular Juvenile Arthritis

Still'S Disease

Systemic Juvenile Rheumatoid Arthritis

Juvenile Chronic Arthritis

Acute Juvenile Rheumatoid Arthritis

Pauciarticular Onset Juvenile Chronic Arthritis

Arthritis, Juvenile Rheumatoid

Jia

Jra

Juvenile Ra

Arthritis Juvenile Rheumatoid

Stills Disease

Juvenile Arthritis

Acute Polyarticular Juvenile Rheumatoid Arthritis

Pauciarticular Juvenile Rheumatoid Arthritis

Rheumatoid Arthritis, Systemic Juvenile

Autoimmune Polyendocrine Syndrome

Autoimmune Polyendocrinopathy

Autoimmune Polyglandular Failure

Autoimmune Polyglandular Syndrome

Polyendocrinopathies, Autoimmune

Lloyd'S Syndrome

Aps

Polyendocrinopathies Autoimmune

Polyendocrine Autoimmunity Syndrome

Lloyd Syndrome

Polyglandular Autoimmune Deficiency

Progressive Pluriglandular Insufficiency

Pluriglandular Autoimmune Atrophy

Pluriglandular Autoimmune Syndrome

Thyroid-Adrenocortical Insufficiency Syndrome

Autoimmune Disease Of Musculoskeletal System
Bone Inflammation Disease

Osteitis

Bone Inflammatory Disease

Inflammatory Disorder Of Bone

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behçet'S Disease

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

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
Mus musculus PTPN22 MGD MGI:107170
Macaca mulatta PTPN22 VGNC VGNC:76603
Felis catus PTPN22 VGNC VGNC:82499
Canis familiaris PTPN22 VGNC VGNC:45175
Rattus norvegicus PTPN22 RGD RGD:1307992
Bos taurus PTPN22 VGNC VGNC:33536
Others PTPN22 NCBI