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

Gene ID: 79092, updated on 7-Jun-2020

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
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

Genomic context

See CARD14 in Genome Data Viewer
Location:
17q25.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (80169992..80209331)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78143791..78183130)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene glucosidase alpha, acid Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene N-sulfoglucosamine sulfohydrolase Neighboring gene solute carrier family 26 member 11 Neighboring gene SLC26A11-RNF213 intergenic CAGE-defined mid-level expression enhancer

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Pityriasis rubra pilaris
MedGen: C0032027 OMIM: 173200 GeneReviews: Not available
Compare labs
Psoriasis susceptibility 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38097

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CARD domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CARD domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
caspase recruitment domain-containing protein 14
Names
CARD-containing MAGUK protein 2
bcl10-interacting maguk protein 2

NCBI Reference Sequences (RefSeq)

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

  1. NG_032778.1 RefSeqGene

    Range
    5039..44340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1330

mRNA and Protein(s)

  1. NM_001257970.1NP_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/Swiss-Prot
    Q9BXL6
    Related
    ENSP00000461806.1, ENST00000570421.5
    Conserved Domains (5) summary
    cd00992
    Location:583655
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    pfam15252
    Location:410481
    DUF4589; Domain of unknown function (DUF4589)
    cl17036
    Location:680740
    SH3; Src Homology 3 domain superfamily
    cl25732
    Location:151409
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001366385.1NP_001353314.1  caspase recruitment domain-containing protein 14 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC087741
    Related
    ENSP00000498071.1, ENST00000648509.2
    Conserved Domains (5) summary
    cd00992
    Location:583655
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    cl17036
    Location:680742
    SH3; Src Homology 3 domain superfamily
    cl17190
    Location:858961
    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:151448
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_024110.4NP_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
    Q9BXL6
    Related
    ENSP00000344549.2, ENST00000344227.6
    Conserved Domains (5) summary
    cd00992
    Location:583655
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    cl17036
    Location:680742
    SH3; Src Homology 3 domain superfamily
    cl17190
    Location:858961
    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:151448
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_052819.2NP_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/Swiss-Prot
    Q9BXL6
    Related
    ENST00000573754.5
    Conserved Domains (2) summary
    cd00992
    Location:346381
    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) ...
    cl23720
    Location:7144
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RNA

  1. 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    80169992..80209331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525213.1XP_011523515.1  caspase recruitment domain-containing protein 14 isoform X1

    See identical proteins and their annotated locations for XP_011523515.1

    UniProtKB/Swiss-Prot
    Q9BXL6
    Related
    ENSP00000499145.1, ENST00000651672.1
    Conserved Domains (5) summary
    cd00992
    Location:583655
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    cl17036
    Location:680742
    SH3; Src Homology 3 domain superfamily
    cl17190
    Location:858961
    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:151448
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_011525216.1XP_011523518.1  caspase recruitment domain-containing protein 14 isoform X1

    See identical proteins and their annotated locations for XP_011523518.1

    UniProtKB/Swiss-Prot
    Q9BXL6
    Conserved Domains (5) summary
    cd00992
    Location:583655
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    cl17036
    Location:680742
    SH3; Src Homology 3 domain superfamily
    cl17190
    Location:858961
    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:151448
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_011525218.2XP_011523520.1  caspase recruitment domain-containing protein 14 isoform X1

    See identical proteins and their annotated locations for XP_011523520.1

    UniProtKB/Swiss-Prot
    Q9BXL6
    Conserved Domains (5) summary
    cd00992
    Location:583655
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    cl17036
    Location:680742
    SH3; Src Homology 3 domain superfamily
    cl17190
    Location:858961
    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:151448
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_011525217.1XP_011523519.1  caspase recruitment domain-containing protein 14 isoform X1

    See identical proteins and their annotated locations for XP_011523519.1

    UniProtKB/Swiss-Prot
    Q9BXL6
    Conserved Domains (5) summary
    cd00992
    Location:583655
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    cl17036
    Location:680742
    SH3; Src Homology 3 domain superfamily
    cl17190
    Location:858961
    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:151448
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_024450934.1XP_024306702.1  caspase recruitment domain-containing protein 14 isoform X2

    Conserved Domains (5) summary
    cd00992
    Location:582654
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    cl17036
    Location:679741
    SH3; Src Homology 3 domain superfamily
    cl17190
    Location:857960
    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:151448
    SMC_N; RecF/RecN/SMC N terminal domain
  6. XM_024450935.1XP_024306703.1  caspase recruitment domain-containing protein 14 isoform X3

    Conserved Domains (5) summary
    cd00992
    Location:583655
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    cl17036
    Location:680742
    SH3; Src Homology 3 domain superfamily
    cl17190
    Location:858923
    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:151448
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_024450936.1XP_024306704.1  caspase recruitment domain-containing protein 14 isoform X4

    Conserved Domains (5) summary
    cd00992
    Location:583655
    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:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    pfam15252
    Location:410481
    DUF4589; Domain of unknown function (DUF4589)
    cl17036
    Location:680740
    SH3; Src Homology 3 domain superfamily
    cl25732
    Location:151409
    SMC_N; RecF/RecN/SMC N terminal domain
  8. XM_024450937.1XP_024306705.1  caspase recruitment domain-containing protein 14 isoform X5

    Related
    ENSP00000498274.1, ENST00000651068.1
    Conserved Domains (3) summary
    cd08806
    Location:19104
    CARD_CARD14_CARMA2; Caspase activation and recruitment domain of CARD14-like proteins
    pfam15252
    Location:410481
    DUF4589; Domain of unknown function (DUF4589)
    cl25732
    Location:151409
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. XR_002958065.1 RNA Sequence

  2. XR_002958066.1 RNA Sequence

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