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

    Gene ID: 285966, updated on 17-Jun-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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    See TCAF2 in Genome Data Viewer
    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

      UniProtKB/TrEMBL
      A0A1B0GVM2

    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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