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TMEM97 transmembrane protein 97 [ Homo sapiens (human) ]

Gene ID: 27346, updated on 13-Mar-2020

Summary

Official Symbol
TMEM97provided by HGNC
Official Full Name
transmembrane protein 97provided by HGNC
Primary source
HGNC:HGNC:28106
See related
Ensembl:ENSG00000109084 MIM:612912
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
MAC30
Summary
TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009]
Expression
Broad expression in testis (RPKM 51.1), liver (RPKM 43.9) and 23 other tissues See more
Orthologs

Genomic context

See TMEM97 in Genome Data Viewer
Location:
17q11.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (28319041..28328685)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26646121..26655711)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene leucine-rich repeat-containing protein 37A3 Neighboring gene keratin 18 pseudogene 55 Neighboring gene intraflagellar transport 20 Neighboring gene TNF alpha induced protein 1 Neighboring gene DNA polymerase delta interacting protein 2 Neighboring gene transmembrane protein 199 Neighboring gene microRNA 4723

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

NHGRI GWAS Catalog

Description
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cholesterol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell growth NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
rough endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sigma intracellular receptor 2
Names
meningioma-associated protein 30
sigma-2 receptor
sigma2 receptor

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_014573.3NP_055388.2  sigma intracellular receptor 2

    See identical proteins and their annotated locations for NP_055388.2

    Status: VALIDATED

    Source sequence(s)
    AC002094, BC091504, CA441136, DA410183
    Consensus CDS
    CCDS11226.2
    UniProtKB/Swiss-Prot
    Q5BJF2
    Related
    ENSP00000226230.6, ENST00000226230.8
    Conserved Domains (1) summary
    pfam10914
    Location:11164
    DUF2781; Protein of unknown function (DUF2781)

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    28319041..28328685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257965.3XP_005258022.1  sigma intracellular receptor 2 isoform X1

    Conserved Domains (1) summary
    pfam10914
    Location:83203
    DUF2781; Protein of unknown function (DUF2781)
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