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

Gene ID: 285966, updated on 27-Nov-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, Nov 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
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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: 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?

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)

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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_001130026.3NP_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
    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

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.