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TCAF2 TRPM8 channel associated factor 2 [ Homo sapiens (human) ]

Gene ID: 285966, updated on 3-Apr-2024

Summary

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Official Symbol
TCAF2provided by HGNC
Official Full Name
TRPM8 channel associated factor 2provided by HGNC
Primary source
HGNC:HGNC:26878
See related
Ensembl:ENSG00000170379 MIM:616252; AllianceGenome:HGNC:26878
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GATD9; GATD9B; FAM115C; FAM139A
Summary
Enables transmembrane transporter binding activity. Involved in negative regulation of anion channel activity; positive regulation of cell migration; and positive regulation of protein targeting to membrane. Located in cell junction and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information
Annotation category: suggests misassembly
Expression
Ubiquitous expression in esophagus (RPKM 2.3), placenta (RPKM 2.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q35
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (143620974..143730410)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144980488..145010763)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (143318067..143427503)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 162, pseudogene Neighboring gene uncharacterized LOC101928466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:143300039-143300538 Neighboring gene TRPM8 channel associated factor 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18725 Neighboring gene MPRA-validated peak6807 silencer Neighboring gene TRPM8 channel associated factor 2C Neighboring gene RNA, U6 small nuclear 267, pseudogene Neighboring gene CTAGE family member 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans. Hsieh P, et al. Nat Commun, 2021 Aug 25. PMID 34433829, Free PMC Article
  2. TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity. Gkika D, et al. J Cell Biol, 2015 Jan 5. PMID 25559186, Free PMC Article
  3. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
  4. N-Terminomics for the Identification of In Vitro Substrates and Cleavage Site Specificity of the SARS-CoV-2 Main Protease. Koudelka T, et al. Proteomics, 2021 Jan. PMID 33111431, Free PMC Article
  5. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TCAF2 in Pericytes Promotes Colorectal Cancer Liver Metastasis via Inhibiting Cold-Sensing TRPM8 Channel.
    Title: TCAF2 in Pericytes Promotes Colorectal Cancer Liver Metastasis via Inhibiting Cold-Sensing TRPM8 Channel.
  2. TCAF2 is associated with the immune microenvironment, promotes pathogenesis, and impairs prognosis in glioma.
    Title: TCAF2 is associated with the immune microenvironment, promotes pathogenesis, and impairs prognosis in glioma.
  3. Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans.
    Title: Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans.
  4. Report novel TRP channel-associated factors that modulate TRPM8 activity.
    Title: TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40722, FLJ78808, MGC142090

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables transmembrane transporter binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transmembrane transporter binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of anion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of anion channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein targeting to membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of protein targeting to membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
TRPM8 channel-associated factor 2
Names
TRP channel-associated factor 2
family with sequence similarity 115, member C
family with sequence similarity 139, member A
protein FAM115C

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)

  1. NM_001130026.3 → NP_001123498.2  TRPM8 channel-associated factor 2 isoform B

    See identical proteins and their annotated locations for NP_001123498.2

    Status: VALIDATED

    Source sequence(s)
    AC106862, AK296318, CN479606, DC402602
    Consensus CDS
    CCDS47735.2
    UniProtKB/TrEMBL
    A0A1B0GVM2
    Related
    ENSP00000441099.2, ENST00000425618.3
    Conserved Domains (1) summary
    pfam13402
    Location:440 → 785
    Peptidase_M60; Peptidase M60, enhancin and enhancin-like

  2. NM_001363538.2 → NP_001350467.1  TRPM8 channel-associated factor 2 isoform C

    Status: VALIDATED

    Source sequence(s)
    AC073264, AC106862
    Consensus CDS
    CCDS87559.1
    UniProtKB/Swiss-Prot
    A6NFQ2, B4DK02, Q14D25, Q17RQ4, Q8IWQ0, Q8NF84
    Related
    ENSP00000506869.1, ENST00000684770.1
    Conserved Domains (1) summary
    pfam13402
    Location:520 → 889
    Peptidase_M60; Peptidase M60, enhancin and enhancin-like

  3. NM_001365427.2 → NP_001352356.1  TRPM8 channel-associated factor 2 isoform D

    Status: VALIDATED

    Source sequence(s)
    AC073264, AK315909
    UniProtKB/TrEMBL
    B7Z9E4

  4. NM_001365428.1 → NP_001352357.1  TRPM8 channel-associated factor 2 isoform E

    Status: VALIDATED

    Source sequence(s)
    AK098041, AL832734, BC113530
    Consensus CDS
    CCDS94223.1
    UniProtKB/TrEMBL
    H0YC74, Q8N1I1
    Related
    ENSP00000431079.2, ENST00000518791.6
    Conserved Domains (1) summary
    pfam13402
    Location:239 → 554
    Peptidase_M60; Peptidase M60, enhancin and enhancin-like

  5. NM_001365429.1 → NP_001352358.1  TRPM8 channel-associated factor 2 isoform F

    Status: VALIDATED

    Source sequence(s)
    AK315909, AL832734, BC113530
    Conserved Domains (1) summary
    pfam13402
    Location:520 → 835
    Peptidase_M60; Peptidase M60, enhancin and enhancin-like

  6. NM_001365430.1 → NP_001352359.1  TRPM8 channel-associated factor 2 isoform F

    Status: VALIDATED

    Source sequence(s)
    AK315909, AL832734, BC113530, BC117233
    Conserved Domains (1) summary
    pfam13402
    Location:520 → 835
    Peptidase_M60; Peptidase M60, enhancin and enhancin-like

  7. NM_173678.3 → NP_775949.2  TRPM8 channel-associated factor 2 isoform A

    See identical proteins and their annotated locations for NP_775949.2

    Status: VALIDATED

    Source sequence(s)
    AC106862, AL832734, BC113530
    Consensus CDS
    CCDS34769.1
    UniProtKB/Swiss-Prot
    A6NFQ2
    Related
    ENSP00000495809.1, ENST00000643242.1
    Conserved Domains (1) summary
    pfam13402
    Location:520 → 835
    Peptidase_M60; Peptidase M60, enhancin and enhancin-like

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

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    143620974..143730410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420217.1 → XP_047276173.1  TRPM8 channel-associated factor 2 isoform X1

    UniProtKB/Swiss-Prot
    A6NFQ2, B4DK02, Q14D25, Q17RQ4, Q8IWQ0, Q8NF84
    Related
    ENSP00000404265.2, ENST00000441159.7

  2. XM_047420219.1 → XP_047276175.1  TRPM8 channel-associated factor 2 isoform X3

  3. XM_047420218.1 → XP_047276174.1  TRPM8 channel-associated factor 2 isoform X2

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654714.1 Reference GRCh38.p14 PATCHES

    Range
    244454..274729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    144980488..145010763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001130025.1: Suppressed sequence

    Description
    NM_001130025.1: This RefSeq has been removed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NFQ2.2 GenPept UniProtKB/Swiss-Prot:A6NFQ2

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