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

    Gene ID: 285966, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TCAF2 in Genome Data Viewer
    Location:
    7q35
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (143620974..143730410)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144980488..145010763)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    NEW Try the new Transcript table

    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_001130026.3NP_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
      A0AAG2UWM7
      Related
      ENSP00000441099.2, ENST00000425618.3
      Conserved Domains (1) summary
      pfam13402
      Location:440785
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like
    2. NM_001363538.2NP_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
      UniProtKB/TrEMBL
      A0AAG2UWC6
      Related
      ENSP00000506869.1, ENST00000684770.1
      Conserved Domains (1) summary
      pfam13402
      Location:520889
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like
    3. NM_001365427.2NP_001352356.1  TRPM8 channel-associated factor 2 isoform D

      Status: VALIDATED

      Source sequence(s)
      AC073264, AK315909
      UniProtKB/TrEMBL
      B7Z9E4
    4. NM_001365428.1NP_001352357.1  TRPM8 channel-associated factor 2 isoform E

      Status: VALIDATED

      Source sequence(s)
      AK098041, AL832734, BC113530
      Consensus CDS
      CCDS94223.1
      UniProtKB/TrEMBL
      A0AAG2UY34, H0YC74, Q8N1I1
      Related
      ENSP00000431079.2, ENST00000518791.6
      Conserved Domains (1) summary
      pfam13402
      Location:239554
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like
    5. NM_001365429.1NP_001352358.1  TRPM8 channel-associated factor 2 isoform F

      Status: VALIDATED

      Source sequence(s)
      AK315909, AL832734, BC113530
      UniProtKB/TrEMBL
      A0AAG2UWF1
      Conserved Domains (1) summary
      pfam13402
      Location:520835
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like
    6. NM_001365430.1NP_001352359.1  TRPM8 channel-associated factor 2 isoform F

      Status: VALIDATED

      Source sequence(s)
      AK315909, AL832734, BC113530, BC117233
      UniProtKB/TrEMBL
      A0AAG2UWF1
      Conserved Domains (1) summary
      pfam13402
      Location:520835
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like
    7. NM_173678.3NP_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/TrEMBL
      A0AAG2UWF1
      Related
      ENSP00000495809.1, ENST00000643242.1
      Conserved Domains (1) summary
      pfam13402
      Location:520835
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047420217.1XP_047276173.1  TRPM8 channel-associated factor 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NFQ2, B4DK02, Q14D25, Q17RQ4, Q8IWQ0, Q8NF84
      UniProtKB/TrEMBL
      A0AAG2UWC6
      Related
      ENSP00000404265.2, ENST00000441159.7
    2. XM_047420219.1XP_047276175.1  TRPM8 channel-associated factor 2 isoform X3

    3. XM_047420218.1XP_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.