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TMEM120A transmembrane protein 120A [ Homo sapiens (human) ]

Gene ID: 83862, updated on 5-Aug-2022

Summary

Official Symbol
TMEM120Aprovided by HGNC
Official Full Name
transmembrane protein 120Aprovided by HGNC
Primary source
HGNC:HGNC:21697
See related
Ensembl:ENSG00000189077 MIM:616550; AllianceGenome:HGNC:21697
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
NET29; TACAN; TMPIT
Summary
Predicted to enable ion channel activity. Involved in fat cell differentiation; protein heterooligomerization; and protein homooligomerization. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 47.7), adrenal (RPKM 45.0) and 25 other tissues See more
Orthologs
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Genomic context

See TMEM120A in Genome Data Viewer
Location:
7q11.23
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75986831..75994595, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77274487..77282162, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75616149..75623913, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cytochrome p450 oxidoreductase Neighboring gene small nucleolar RNA, H/ACA box 14A Neighboring gene Sharpr-MPRA regulatory region 2709 Neighboring gene Sharpr-MPRA regulatory region 3792 Neighboring gene serine/threonine/tyrosine interacting like 1 Neighboring gene malate dehydrogenase 2

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

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in detection of mechanical stimulus involved in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fat cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein heterooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
ion channel TACAN
Names
transmembrane protein induced by tumor necrosis factor alpha

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_001317803.2NP_001304732.1  ion channel TACAN isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC006330, BC040694, CX869634, DB460719
    Consensus CDS
    CCDS83192.1
    UniProtKB/TrEMBL
    A0A087X266
    Related
    ENSP00000484736.1, ENST00000439537.5
    Conserved Domains (1) summary
    pfam07851
    Location:13306
    TMPIT; TMPIT-like protein
  2. NM_001363462.2NP_001350391.1  ion channel TACAN isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC006330, AF327923, AI806931, AL522284, BC051850, CX869634
    Related
    ENSP00000481336.1, ENST00000440632.5
    Conserved Domains (1) summary
    pfam07851
    Location:13188
    TMPIT; TMPIT-like protein
  3. NM_031925.3NP_114131.1  ion channel TACAN isoform 1

    See identical proteins and their annotated locations for NP_114131.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (1).
    Source sequence(s)
    AC006330, AF327923, BC051850, CX869634
    Consensus CDS
    CCDS64688.1
    UniProtKB/Swiss-Prot
    Q8N6P1, Q9BXJ8
    Related
    ENSP00000473983.1, ENST00000493111.7
    Conserved Domains (1) summary
    pfam07851
    Location:13336
    TMPIT; TMPIT-like protein

RNA

  1. NR_156695.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006330, AF327923, AI806931, AL522284, BC051850, BM740069, CX869634

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    75986831..75994595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420919.1XP_047276875.1  ion channel TACAN isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    77274487..77282162 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)