CARD14 - caspase recruitment domain family member 14 Gene

Homo sapiens

Also known as PRP; PSS1; BIMP2; CARMA2; PSORS2

Gene ID: 79092 | Gene type: protein coding

About CARD14

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:80,170,030-80,209,331 (from NCBI)

This gene has 30 transcripts (splice variants), 185 orthologues, 3 paralogues and is associated with 4 phenotypes. Broad expression in skin (RPKM 4.8), adrenal (RPKM 1.8) and 21 other tissues.

Summary

This gene encodes a Caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell Apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

CARD14 Products(4)

mRNA	Protein	Name
NM_001257970.1	NP_001244899.1	caspase recruitment domain-containing protein 14 isoform 3
NM_001366385.1	NP_001353314.1	caspase recruitment domain-containing protein 14 isoform 1
NM_024110.4	NP_077015.2	caspase recruitment domain-containing protein 14 isoform 1
NM_052819.3	NP_438170.1	caspase recruitment domain-containing protein 14 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables CARD domain binding	IPI IPI: Inferred from physical interaction	11278692	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27071417	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	21302310	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	21302310	GOA
involved in positive regulation of protein phosphorylation	IDA IDA: Inferred from direct assay	11278692	GOA
involved in tumor necrosis factor-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	21302310	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11278692	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

CARD14 Protein Structure

CARD

0
200
400
600
800
1004 a.a.

Protein Preferred Names

Protein Names

caspase recruitment domain-containing protein 14

CARD-containing MAGUK protein 2

Related Diseases

Diseases

Alias

Pityriasis Rubra Pilaris

PRP	Devergie'S Disease
Prp - [Pityriasis Rubra Pilaris]

Psoriasis 2

PSORS2	Psoriasis
Psoriasis Vulgaris	Pv
Psoriasis, Susceptibility To, Type 2

Familial Pityriasis Rubra Pilaris

Familial Prp

Pityriasis Rubra Pilaris--Familial Type

Mucopolysaccharidosis Iii

Sanfilippo Syndrome	Mucopolysaccharidosis Type Iii
Mucopolysaccharidosis Type 3	Mps Iii
Mpsiii	Sanfilippo Disease
Heparan Sulfate Sulfatase Deficiency	Mucopolysaccharidosis, Mps-Iii
N-Sulphoglucosamine Sulphohydrolase Deficiency	Naglu Deficiency
Sanfilippo'S Syndrome	Mucopoly-Saccharidosis Type 3
Mps3	Sanfilippos Syndrome
Mucopolysaccharidosis Type Iiia	Mps Iii B

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia	MPS3A
Mps Iiia	Sanfilippo Syndrome A
Heparan Sulfate Sulfatase Deficiency	Sulfamidase Deficiency
Heparan Sulfamidase Deficiency	Mpsiiia
Mucopolysaccharidosis Type 3a	Sanfilippo Syndrome Type A
Mucopolysaccharidosis Iii-A	Heparane Sulfamidase Deficiency
Mps 3a	Mucopoly-Saccharidosis Type 3a
Mps Iii-A	Mucopolysaccharidosis 3a
Mucopolysaccharidosis Iii

Diffuse Palmoplantar Keratoderma

Diffuse Palmoplantar Hyperkeratosis	Diffuse Ppk
Diffuse Keratosis Palmoplantaris

Psoriasis

Psoriasis 8

PSORS8	Psoriasis Susceptibility 8
Psoriasis 8, Susceptibility To

Impetigo Herpetiformis

Psoriasis 7

PSORS7	Psoriasis 7, Susceptibility To
Psoriasis Susceptibility 7	Psoriasis
Psoriasis Vulgaris	Pv

Psoriasis 4

PSORS4	Psoriasis Susceptibility 4
Psoriasis 4, Susceptibility To

Psoriasis 14, Pustular

Generalized Pustular Psoriasis	Gpp
Ditra	Acrodermatitis Continua Of Hallopeau
Palmoplantar Pustulosis	PSORS14
Interleukin 36 Receptor Antagonist Deficiency	Psorp
Pustular Psoriasis 14	Deficiency Of Il-36r Antagonist
Acute Generalised Pustular Psoriasis	Deficiency Of The Interleukin-36 Receptor Antagonist
Generalized Pustular Psoriasis Of Von Zumbusch	Von Zumbusch Psoriasis
Deficiency Of Il-36ra	Psoriasis, Pustular, Generalized
Psoriasis, Pustular, Type 14	Pustulosis Of Palms And Soles
Acute Generalized Pustular Psoriasis	Palmoplantar Pustular Psoriasis
Pustulosis Palmaris Et Plantaris	Ppp - [Palmoplantar Pustulosis]
Pustular Psoriasis Of The Palms And Soles	Pustular Bacterid

Psoriasis 3

PSORS3	Psoriasis Susceptibility 3
Psoriasis 3, Susceptibility To

Familial Cold Autoinflammatory Syndrome 2

FCAS2	Nlrp12-Associated Hereditary Periodic Fever Syndrome
Familial Cold Autoinflammatory Syndrome Type 2	Familial Cold-Induced Autoinflammatory Syndrome Type 2
Naps12	Familial Cold Autoinflammatory Syndrome 2, Susceptibility To
Autoinflammatory Syndrome, Cold, Familial, Type 2

Pustulosis Of Palm And Sole

Psoriasis	Acropustulosis
Palmoplantar Pustulosis	Pustular Psoriasis Of The Palms And/Or Soles
Pustulosis Of Palms And Soles	Acrodermatitis Continua Of Hallopeau
Generalized Pustular Psoriasis

Psoriasis 13

PSORS13	Psoriasis 13, Susceptibility To
Psoriasis	Psoriasis Vulgaris
Psoriasis Susceptibility 13	Pv
Psoriasis, Susceptibility To, Type 13

Miliaria Pustulosa

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

Psoriasis 1

Psoriasis Vulgaris	PSORS1
Psoriasis 1, Susceptibility To	Psoriasis Susceptibility 1
Psoriasis	Pv
Psoriasis, Susceptibility To, Type 1

Geographic Tongue

Benign Migratory Glossitis	Glossitis Areata Exfoliativa
Glossitis, Benign Migratory	Pityriasis Linguae
Ectopic Geographic Tongue	Erythema Migrans
Erythema Chronicum Migrans	Benign Migrating Glossitis
Geographical Tongue	Lingua Geographica
Erythema Migrans Of Tongue	Wandering Rash Of Tongue

Erythema Elevatum Diutinum

Psoriasis 6

PSORS6	Psoriasis Susceptibility 6
Psoriasis 6, Susceptibility To

Psoriasis 5

PSORS5	Psoriasis Susceptibility 5
Psoriasis 5, Susceptibility To

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Atrophic Glossitis

Atrophy Of Tongue Papillae	Glossitis, Hunter'S
Hunter'S Glossitis	Smooth Atrophic Tongue
Hunter Glossitis	Central Papillary Atrophy Of The Tongue

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome	Fra
Familial Recurrent Arthritis	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
PAPAS	Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Periodic Fever, Familial, Autosomal Dominant

Familial Hibernian Fever	Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
Traps	FPF
Tnf Receptor-Associated Periodic Fever Syndrome	Hibernian Fever, Familial
Fhf	Tnf Receptor-Associated Periodic Syndrome
Autosomal Dominant Familial Periodic Fever	Periodic Fever, Familial
Tnf Receptor 1-Associated Periodic Syndrome	Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Familial Periodic Fever	Traps Syndrome
Tnf Receptor Associated Periodic Syndrome	Caledonian Fever
Fever, Periodic, Familial	Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

Psoriasis 15

Psors15

Acrodermatitis

Familial Behcet-Like Autoinflammatory Syndrome

Autoinflammatory Syndrome, Familial, Behcet-Like

A20 Haploinsufficiency

Mevalonic Aciduria

Mevalonate Kinase Deficiency	Mevalonicaciduria
Hyperimmunoglobulin D With Periodic Fever	MEVA
Complete Mevalonate Kinase Deficiency	Mva
Hyperimmunoglobulinemia D	Hyper Igd Syndrome
Periodic Fever, Dutch Type	Mkd
Aciduria, Mevalonic	Deficiency Of Mevalonate Kinase

Blau Syndrome

Arthrocutaneouveal Granulomatosis	Jabs Syndrome
BLAUS	Sarcoidosis, Early-Onset
Acug	Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial
Eos	Granulomatosis, Familial Juvenile Systemic
Granulomatosis, Familial, Blau Type	Familial Juvenile Systemic Granulomatosis
Early Onset Sarcoidosis	Synovitis Granulomatous With Uveitis And Cranial Neuropathies
Early-Onset Sarcoidosis	Familial Granulomatosis, Blau Type
Pediatric Granulomatous Arthritis	Familial Granulomatosis Blau Type
Familial Granulomatous Inflammatory Arthritis Dermatitis And Uveitis	Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies

Autoimmune Disease Of Skin And Connective Tissue

Immunodeficiency 11

Immunodeficiency 11a	Severe Combined Immunodeficiency Due To Card11 Deficiency
IMD11A	Imd11
Card11 Immunodeficiency	Scid Due To Card11 Deficiency
Card11 Deficiency	Immunodeficiency 11 A

Impetigo

Porokeratosis

Disseminated Superficial Actinic Porokeratosis	Dsap
Porokeratosis Of Mibelli	Porokeratosis, Disseminated Superficial Actinic
Porokeratosis, Disseminated Superficial Actinic, 1

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01917	CARD14 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CARD14	VGNC	VGNC:26762
Mus musculus	CARD14	MGD	MGI:2386258
Canis familiaris	CARD14	VGNC	VGNC:38715
Rattus norvegicus	CARD14	RGD	RGD:1591135
Macaca mulatta	CARD14	VGNC	VGNC:104590
Felis catus	CARD14	VGNC	VGNC:60365