CARD10 caspase recruitment domain family member 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CARD10provided by HGNC
Official Full Name: caspase recruitment domain family member 10provided by HGNC
Primary source: HGNC:HGNC:16422
See related: Ensembl:ENSG00000100065 MIM:607209; AllianceGenome:HGNC:16422
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BIMP1; IMD89; CARMA3
Summary: The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in small intestine (RPKM 15.9), duodenum (RPKM 15.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37490362..37519415, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (37951227..37980107, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (37886400..37915422, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CARMA3: A potential therapeutic target in non-cancer diseases.
Title: CARMA3: A potential therapeutic target in non-cancer diseases.
CARMA3 Transcriptional Regulation of STMN1 by NF-kappaB Promotes Renal Cell Carcinoma Proliferation and Invasion.
Title: CARMA3 Transcriptional Regulation of STMN1 by NF-κB Promotes Renal Cell Carcinoma Proliferation and Invasion.
Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity.
Title: Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity.
The circINTS4/miR-146b/CARMA3 axis promotes tumorigenesis in bladder cancer.
Title: The circINTS4/miR-146b/CARMA3 axis promotes tumorigenesis in bladder cancer.
CARD10 promotes the progression of renal cell carcinoma by regulating the NFkappaB signaling pathway.
Title: CARD10 promotes the progression of renal cell carcinoma by regulating the NF‑κB signaling pathway.
Caspase recruitment domain family member 10 regulates carbamoyl phosphate synthase 1 and promotes cancer growth in bladder cancer cells.
Title: Caspase recruitment domain family member 10 regulates carbamoyl phosphate synthase 1 and promotes cancer growth in bladder cancer cells.
Higher expression of CARMA3 in hepatocellular carcinoma (HCC) was relevant to poor prognostic survival. Down-regulation of CARMA3 inhibited proliferation and colony formation and induced apoptosis in HCC cell lines, while increasing its expression promoted tumorigenesis.
Title: CARMA3/NF-κB signaling contributes to tumorigenesis of hepatocellular carcinoma and is inhibited by sodium aescinate.
Card10 is expressed in granulocytes and is a direct target of CEBPE with functions extending to myeloid differentiation.
Title: CARD10, a CEBPE target involved in granulocytic differentiation.
High CARMA3 expression is associated with Breast Cancer.
Title: The CARMA3-Bcl10-MALT1 Signalosome Drives NFκB Activation and Promotes Aggressiveness in Angiotensin II Receptor-Positive Breast Cancer.
The results suggest that the involvement of CARMA3 in DNA damage-induced NF-kappaB is through the recruitment of TRAF6.
Title: The CARMA3-BCL10-MALT1 (CBM) complex contributes to DNA damage-induced NF-κB activation and cell survival.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Immunodeficiency 89 and autoimmunity MedGen: C5562027 OMIM: 619632 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies variants associated with autoimmune hepatitis type 1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S346 (e-PCR)
- UniSTS:148202

RH99263 (e-PCR)
- UniSTS:84984

CARD10_3578 (e-PCR)
- UniSTS:462077

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CARD domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor complex adaptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of NF-kappaB-inducing kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration involved in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-containing complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CBM complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: caspase recruitment domain-containing protein 10

Names: Bcl10 binding protein and activator of NFKB; CARD-containing MAGUK 3 protein; CARD-containing MAGUK protein 3; carma 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_014550.4 → NP_055365.2 caspase recruitment domain-containing protein 10

See identical proteins and their annotated locations for NP_055365.2

Status: REVIEWED

Source sequence(s)

AK057334, AL022315, AY028896, AY032928, BC032058

Consensus CDS

CCDS13948.1

UniProtKB/Swiss-Prot

Q14CQ8, Q5TFG6, Q8NC81, Q9BWT7, Q9UGR5, Q9UGR6, Q9Y3H0

UniProtKB/TrEMBL

Q17RA1

Related

ENSP00000251973.5, ENST00000251973.10

Conserved Domains (4) summary

cd08807
Location:27 → 112

CARD_CARD10_CARMA3; Caspase activation and recruitment domain of CARD10-like proteins

pfam10267
Location:112 → 245

Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

cl12138
Location:282 → 395

ThylakoidFormat; Thylakoid formation protein

cl17036
Location:705 → 770

SH3; Src Homology 3 domain superfamily