CARD14 caspase recruitment domain family member 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CARD14provided by HGNC
Official Full Name: caspase recruitment domain family member 14provided by HGNC
Primary source: HGNC:HGNC:16446
See related: Ensembl:ENSG00000141527 MIM:607211; AllianceGenome:HGNC:16446
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: PRP; PSS1; BIMP2; CARMA2; PSORS2
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]
Expression: Broad expression in skin (RPKM 4.8), adrenal (RPKM 1.8) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (80170030..80209331)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (81070412..81109756)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (78143829..78183130)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

A novel mutation in a CARD14-associated papulosquamous eruption.
Title: A novel mutation in a CARD14-associated papulosquamous eruption.
Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis.
Title: Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis.
Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis.
Title: Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis.
Association between CARD14 gene polymorphisms and psoriasis vulgaris in Hainan Han population based on exon sequencing: A case-control study.
Title: Association between CARD14 gene polymorphisms and psoriasis vulgaris in Hainan Han population based on exon sequencing: A case-control study.
Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis.
Title: Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis.
Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis.
Title: Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis.
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
Title: GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
CARD14-associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature.
Title: CARD14-associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature.
Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis.
Title: Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis.
Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.
Title: Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.

Submit: New GeneRIF Correction See all GeneRIFs (58)

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
Pityriasis rubra pilaris MedGen: C0032027 OMIM: 173200 GeneReviews: Not available	Compare labs
Psoriasis 2 MedGen: C1864497 OMIM: 602723 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-08-01) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2013-08-01) ClinGen Genome Curation Page

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

GDB:434012 (e-PCR)
- UniSTS:157204

SHGC-84620 (e-PCR)
- UniSTS:102945

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

RH36905 (e-PCR)
- UniSTS:87932

A005O39 (e-PCR)
- UniSTS:11676

RH78492 (e-PCR)
- UniSTS:52134

CARD14_3621 (e-PCR)
- UniSTS:463566

SHGC-82425 (e-PCR)
- UniSTS:104408

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CARD domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables CARD domain binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of NF-kappaB-inducing kinase activity	NAS Non-traceable Author Statement more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in aggresome	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: caspase recruitment domain-containing protein 14

Names: CARD-containing MAGUK protein 2; bcl10-interacting maguk protein 2

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.

Genomic

NG_032778.1 RefSeqGene

Range

5039..44340

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1330

mRNA and Protein(s)

NM_001257970.1 → NP_001244899.1 caspase recruitment domain-containing protein 14 isoform 3

See identical proteins and their annotated locations for NP_001244899.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several exons and its transcription extends past a splice site that is used in variant 1. The encoded isoform 3 has a shorter C-terminus, compared to isoform 1.

Source sequence(s)

AC087741, BC018142

Consensus CDS

CCDS58605.1

UniProtKB/TrEMBL

A0A494C199

Related

ENSP00000461806.1, ENST00000570421.5

Conserved Domains (5) summary

cd00992
Location:583 → 655

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd08806
Location:19 → 104

CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins

pfam15252
Location:410 → 481

DUF4589; Domain of unknown function (DUF4589)

cl17036
Location:680 → 740

SH3; Src Homology 3 domain superfamily

cl25732
Location:151 → 409

SMC_N; RecF/RecN/SMC N terminal domain
NM_001366385.1 → NP_001353314.1 caspase recruitment domain-containing protein 14 isoform 1

Status: REVIEWED

Source sequence(s)

AC087741

Consensus CDS

CCDS11768.1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6

UniProtKB/TrEMBL

A0A494C1N2

Related

ENSP00000498071.1, ENST00000648509.2

Conserved Domains (5) summary

cd00992
Location:583 → 655

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd08806
Location:19 → 104

CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins

cl17036
Location:680 → 742

SH3; Src Homology 3 domain superfamily

cl17190
Location:858 → 961

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

cl25732
Location:151 → 448

SMC_N; RecF/RecN/SMC N terminal domain
NM_024110.4 → NP_077015.2 caspase recruitment domain-containing protein 14 isoform 1

See identical proteins and their annotated locations for NP_077015.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 5 encode the same isoform.

Source sequence(s)

AC087741, AF322642, BU617627

Consensus CDS

CCDS11768.1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6

UniProtKB/TrEMBL

A0A494C1N2

Related

ENSP00000344549.2, ENST00000344227.6

Conserved Domains (5) summary

cd00992
Location:583 → 655

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd08806
Location:19 → 104

CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins

cl17036
Location:680 → 742

SH3; Src Homology 3 domain superfamily

cl17190
Location:858 → 961

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

cl25732
Location:151 → 448

SMC_N; RecF/RecN/SMC N terminal domain
NM_052819.3 → NP_438170.1 caspase recruitment domain-containing protein 14 isoform 2

See identical proteins and their annotated locations for NP_438170.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several exons at the 5' and 3' ends and its transcription extends past a splice site that is used in variant 1. The encoded isoform 2 has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC087741, BC001326

UniProtKB/TrEMBL

B4DKY0

Related

ENST00000573754.5

Conserved Domains (2) summary

COG1196
Location:8 → 211

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00992
Location:346 → 381

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RNA

NR_047566.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC087741, AK091123, BU617627, DA461380

Related

ENST00000575500.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

80170030..80209331

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436713.1 → XP_047292669.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6

Related

ENSP00000499145.1, ENST00000651672.1
XM_047436719.1 → XP_047292675.1 caspase recruitment domain-containing protein 14 isoform X3
XM_047436714.1 → XP_047292670.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_011525213.2 → XP_011523515.1 caspase recruitment domain-containing protein 14 isoform X1

See identical proteins and their annotated locations for XP_011523515.1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6

UniProtKB/TrEMBL

A0A494C1N2

Conserved Domains (5) summary

cd00992
Location:583 → 655

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd08806
Location:19 → 104

CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins

cl17036
Location:680 → 742

SH3; Src Homology 3 domain superfamily

cl17190
Location:858 → 961

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

cl25732
Location:151 → 448

SMC_N; RecF/RecN/SMC N terminal domain
XM_011525216.2 → XP_011523518.1 caspase recruitment domain-containing protein 14 isoform X1

See identical proteins and their annotated locations for XP_011523518.1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6

UniProtKB/TrEMBL

A0A494C1N2

Conserved Domains (5) summary

cd00992
Location:583 → 655

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd08806
Location:19 → 104

CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins

cl17036
Location:680 → 742

SH3; Src Homology 3 domain superfamily

cl17190
Location:858 → 961

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

cl25732
Location:151 → 448

SMC_N; RecF/RecN/SMC N terminal domain
XM_011525218.2 → XP_011523520.1 caspase recruitment domain-containing protein 14 isoform X1

See identical proteins and their annotated locations for XP_011523520.1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6

UniProtKB/TrEMBL

A0A494C1N2

Conserved Domains (5) summary

cd00992
Location:583 → 655

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd08806
Location:19 → 104

CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins

cl17036
Location:680 → 742

SH3; Src Homology 3 domain superfamily

cl17190
Location:858 → 961

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

cl25732
Location:151 → 448

SMC_N; RecF/RecN/SMC N terminal domain
XM_047436715.1 → XP_047292671.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6

Related

ENSP00000458715.1, ENST00000573882.5
XM_047436717.1 → XP_047292673.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_047436716.1 → XP_047292672.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_047436718.1 → XP_047292674.1 caspase recruitment domain-containing protein 14 isoform X2
XM_047436720.1 → XP_047292676.1 caspase recruitment domain-containing protein 14 isoform X4

UniProtKB/TrEMBL

A0A494C0J4

Related

ENSP00000498570.1, ENST00000650867.1
XM_047436721.1 → XP_047292677.1 caspase recruitment domain-containing protein 14 isoform X5
XM_047436722.1 → XP_047292678.1 caspase recruitment domain-containing protein 14 isoform X6

UniProtKB/TrEMBL

A0A994J6G4

Related

ENSP00000515382.1, ENST00000703566.1
XM_047436723.1 → XP_047292679.1 caspase recruitment domain-containing protein 14 isoform X7

Related

ENSP00000498274.1, ENST00000651068.1

Reference GRCh38.p14 PATCHES

Genomic

NW_025791802.1 Reference GRCh38.p14 PATCHES

Range

194698..234037

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333205.1 → XP_054189180.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_054333202.1 → XP_054189177.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_054333204.1 → XP_054189179.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_054333200.1 → XP_054189175.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_054333209.1 → XP_054189184.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_054333208.1 → XP_054189183.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_054333201.1 → XP_054189176.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_054333206.1 → XP_054189181.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_054333203.1 → XP_054189178.1 caspase recruitment domain-containing protein 14 isoform X1

UniProtKB/Swiss-Prot

B8QQJ3, Q9BVB5, Q9BXL6
XM_054333207.1 → XP_054189182.1 caspase recruitment domain-containing protein 14 isoform X2
XM_054333210.1 → XP_054189185.1 caspase recruitment domain-containing protein 14 isoform X4

UniProtKB/TrEMBL

A0A494C0J4
XM_054333211.1 → XP_054189186.1 caspase recruitment domain-containing protein 14 isoform X5
XM_054333212.1 → XP_054189187.1 caspase recruitment domain-containing protein 14 isoform X6

UniProtKB/TrEMBL

A0A994J6G4
XM_054333213.1 → XP_054189188.1 caspase recruitment domain-containing protein 14 isoform X7

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

81070412..81109756

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317155.1 → XP_054173130.1 caspase recruitment domain-containing protein 14 isoform X1
XM_054317152.1 → XP_054173127.1 caspase recruitment domain-containing protein 14 isoform X1
XM_054317154.1 → XP_054173129.1 caspase recruitment domain-containing protein 14 isoform X1
XM_054317150.1 → XP_054173125.1 caspase recruitment domain-containing protein 14 isoform X1
XM_054317159.1 → XP_054173134.1 caspase recruitment domain-containing protein 14 isoform X1
XM_054317158.1 → XP_054173133.1 caspase recruitment domain-containing protein 14 isoform X1
XM_054317151.1 → XP_054173126.1 caspase recruitment domain-containing protein 14 isoform X1
XM_054317156.1 → XP_054173131.1 caspase recruitment domain-containing protein 14 isoform X1
XM_054317153.1 → XP_054173128.1 caspase recruitment domain-containing protein 14 isoform X1
XM_054317157.1 → XP_054173132.1 caspase recruitment domain-containing protein 14 isoform X2
XM_054317160.1 → XP_054173135.1 caspase recruitment domain-containing protein 14 isoform X4
XM_054317161.1 → XP_054173136.1 caspase recruitment domain-containing protein 14 isoform X5
XM_054317162.1 → XP_054173137.1 caspase recruitment domain-containing protein 14 isoform X6
XM_054317163.1 → XP_054173138.1 caspase recruitment domain-containing protein 14 isoform X7