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TMEM120B transmembrane protein 120B [ Homo sapiens (human) ]

Gene ID: 144404, updated on 7-Jun-2020

Summary

Official Symbol
TMEM120Bprovided by HGNC
Official Full Name
transmembrane protein 120Bprovided by HGNC
Primary source
HGNC:HGNC:32008
See related
Ensembl:ENSG00000188735 MIM:616551
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
Expression
Ubiquitous expression in bone marrow (RPKM 5.6), lymph node (RPKM 5.2) and 25 other tissues See more
Orthologs

Genomic context

See TMEM120B in Genome Data Viewer
Location:
12q24.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (121712752..121782068)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122150658..122219974)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ORAI calcium release-activated calcium modulator 1 Neighboring gene uncharacterized LOC105370034 Neighboring gene MORN repeat containing 3 Neighboring gene uncharacterized LOC107984442 Neighboring gene ras homolog family member F, filopodia associated Neighboring gene long intergenic non-protein coding RNA 1089

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

Phenotypes

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
fat cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
protein heterooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

NCBI Reference Sequences (RefSeq)

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_001080825.2NP_001074294.2  transmembrane protein 120B

    See identical proteins and their annotated locations for NP_001074294.2

    Status: VALIDATED

    Source sequence(s)
    AC084018, AK126568
    Consensus CDS
    CCDS41852.1
    UniProtKB/Swiss-Prot
    A0PK00
    Related
    ENSP00000404991.2, ENST00000449592.7
    Conserved Domains (1) summary
    pfam07851
    Location:9332
    TMPIT; TMPIT-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    121712752..121782068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448851.1XP_024304619.1  transmembrane protein 120B isoform X1

    Conserved Domains (1) summary
    pfam07851
    Location:9187
    TMPIT; TMPIT-like protein
  2. XM_024448852.1XP_024304620.1  transmembrane protein 120B isoform X2

    Conserved Domains (1) summary
    pfam07851
    Location:22199
    TMPIT; TMPIT-like protein
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