CARD14 (caspase recruitment domain family member 14)

Gene

• Entrez ID: 79092
• Gene name: Caspase recruitment domain family member 14
• Gene symbol: CARD14
• Synonyms (NCBI Gene): BIMP2, CARMA2, PRP, PSORS2, PSS1
• Disease Acronyms (UniProt): PRP, PSORS2, PSS1
• Chromosome: 17
• Chromosome location: 17q25.3
• 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 cellula

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200790561	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs281875212	G>A,C	Not-provided, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs281875213	A>G	Not-provided, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs281875214	A>C	Not-provided, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs281875215	G>A	Not-provided, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs369755459	T>G	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs387907240	T>C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs587777763	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant
rs886041402	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1567872320	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598639584	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598639617	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598639659	G>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598639974	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022735	hsa-miR-124-3p	Microarray	18668037
MIRT029698	hsa-miR-26b-5p	Microarray	19088304
MIRT862780	hsa-miR-146b-3p	CLIP-seq
MIRT862781	hsa-miR-1912	CLIP-seq
MIRT862782	hsa-miR-2278	CLIP-seq
MIRT862783	hsa-miR-339-5p	CLIP-seq
MIRT1955899	hsa-miR-4269	CLIP-seq
MIRT2193486	hsa-miR-3158-5p	CLIP-seq
MIRT2193487	hsa-miR-3180-5p	CLIP-seq
MIRT2193488	hsa-miR-3919	CLIP-seq
MIRT2193489	hsa-miR-520a-5p	CLIP-seq
MIRT2193490	hsa-miR-525-5p	CLIP-seq
MIRT2385536	hsa-miR-1208	CLIP-seq
MIRT2385537	hsa-miR-4420	CLIP-seq
MIRT2385538	hsa-miR-892a	CLIP-seq
MIRT2385539	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	11278692
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	11278692, 21302310
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	NAS	11278692
GO:0006915	Process	Apoptotic process	IEA
GO:0007250	Process	Activation of NF-kappaB-inducing kinase activity	NAS	11278692
GO:0016235	Component	Aggresome	IDA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	21302310
GO:0043066	Process	Negative regulation of apoptotic process	IMP	21302310
GO:0050700	Function	CARD domain binding	IBA	21873635
GO:0050700	Function	CARD domain binding	IPI	11278692
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	21302310

Other IDs

• MIM: 607211
• HGNC: 16446
• e!Ensembl: ENSG00000141527

Protein

• UniProt ID: Q9BXL6
• Protein name: Caspase recruitment domain-containing protein 14 (CARD-containing MAGUK protein 2) (Carma 2)
• Protein function: Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	20 → 106	Caspase recruitment domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is detected in placenta and epidermal keratinocytes (PubMed:22521418). Isoform 2 is detected in leukocytes and fetal brain (PubMed:22521418). {ECO:0000269|PubMed:22521418}.
• Sequence:

  MGELCRRDSALTALDEETLWEMMESHRHRIVRCICPSRLTPYLRQAKVLCQLDEEEVLHS
  PRLTNSAMRAGHLLDLLKTRGKNGAIAFLESLKFHNPDVYTLVTGLQPDVDFSNFSGLME
  TSKLTECLAGAIGSLQEELNQEKGQKEVLLRRCQQLQEHLGLAETRAEGLHQLEADHSRM
  KREVSAHFHEVLRLKDEMLSLSLHYSNALQEKELAASRCRSLQEELYLLKQELQRANMVS
  SCELELQEQSLRTASDQESGDEELNRLKEENEKLRSLTFSLAEKDILEQSLDEARGSRQE
  LVERIHSLRERAVAAERQREQYWEEKEQTLLQFQKSKMACQLYREKVNALQAQVCELQKE
  RDQAYSARDSAQREISQSLVEKDSLRRQVFELTDQVCELRTQLRQLQAEPPGVLKQEART
  REPCPREKQRLVRMHAICPRDDSDCSLVSSTESQLLSDLSATSSRELVDSFRSSSPAPPS
  QQSLYKRVAEDFGEEPWSFSSCLEIPEGDPGALPGAKAGDPHLDYELLDTADLPQLESSL
  QPVSPGRLDVSESGVLMRRRPARRILSQVTMLAFQGDALLEQISVIGGNLTGIFIHRVTP
  GSAADQMALRPGTQIVMVDYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTDG
  YKRLLQDLEAKVATSGDSFYIRVNLAMEGRAKGELQVHCNEVLHVTDTMFQGCGCWHAHR
  VNSYTMKDTAAHGTIPNYSRAQQQLIALIQDMTQQCTVTRKPSSGGPQKLVRIVSMDKAK
  ASPLRLSFDRGQLDPSRMEGSSTCFWAESCLTLVPYTLVRPHRPARPRPVLLVPRAVGKI
  LSEKLCLLQGFKKCLAEYLSQEEYEAWSQRGDIIQEGEVSGGRCWVTRHAVESLMEKNTH
  ALLDVQLDSVCTLHRMDIFPIVIHVSVNEKMAKKLKKGLQRLGTSEEQLLEAARQEEGDL
  DRAPCLYSSLAPDGWSDLDGLLSCVRQAIADEQKKVVWTEQSPR

• Sequence length: 1004

Pathways

KEGG:

NF-kappa B signaling pathway

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autoinflammatory disease	Autoinflammatory disorder	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	29980436
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Moyamoya disease	Moyamoya Disease, Moyamoya disease 1	rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410	29273593
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Psoriasis	Psoriasis, PSORIASIS 2	rs281875215, rs587777763, rs281875213, rs281875212	29980436, 23143594, 24212883, 27113748, 22521419, 22521418, 29689250, 27071417, 26358359

Unknown
Disease term	Disease name	Evidence	References	Source
Hirschsprung Disease	Hirschsprung Disease			GWAS
Moyamoya Disease	Moyamoya Disease			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Generalized Exanthematous Pustulosis	Associate	38013380
Arthritis Psoriatic	Associate	16622521, 27071417, 31286971
Arthritis Rheumatoid	Associate	38013380
Asthma	Associate	34271060
Carcinogenesis	Associate	39362963
Dermatitis Atopic	Associate	16374479, 34271060
Epidermal Cyst	Associate	22521418
Exanthema	Associate	38013380
Familial pityriasis rubra pilaris	Associate	29477734
Head and Neck Neoplasms	Stimulate	39362963
Immune Dysregulation Polyendocrinopathy Enteropathy X Linked Syndrome	Associate	33864888
Inflammation	Associate	22521418, 27071417
Lymphoma B Cell	Associate	27071417
Neoplasms	Associate	39362963
Nevus Sebaceous of Jadassohn	Associate	35853659
Pityriasis Rubra Pilaris	Associate	26212909, 29477734, 31286971, 33431438
Psoriasis	Associate	16622521, 22521418, 27071417, 29194363, 29477734, 30092825, 31286971, 33804147, 35853659, 38013380
Sarcoma	Stimulate	39362963
Skin Diseases	Associate	26212909, 27071417, 39362963
Skin Diseases Papulosquamous	Associate	31286971