CARD14 - caspase recruitment domain family member 14 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79092

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	References	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	References	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	References	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

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 Set	/	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
Others	CARD14	NCBI