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TMEM97 transmembrane protein 97 [ Homo sapiens (human) ]

Gene ID: 27346, updated on 12-Feb-2024

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; AllianceGenome:HGNC:28106
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; sigma2R
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
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Genomic context

See TMEM97 in Genome Data Viewer
Location:
17q11.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28319200..28328685)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29261048..29270533)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26646226..26655711)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene leucine-rich repeat-containing protein 37A3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:26591629-26592828 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:26594224-26595423 Neighboring gene keratin 18 pseudogene 55 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:26609113-26610312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:26644505-26645330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11922 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:26662195-26662386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8335 Neighboring gene intraflagellar transport 20 Neighboring gene TNF alpha induced protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26671214-26671717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26672221-26672724 Neighboring gene uncharacterized LOC124903963 Neighboring gene DNA polymerase delta interacting protein 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
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cholesterol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables oxysterol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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_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
    B4DS02, Q07823, Q5BJF2
    UniProtKB/TrEMBL
    B4DDT6
    Related
    ENSP00000226230.6, ENST00000226230.8
    Conserved Domains (1) summary
    pfam10914
    Location:11164
    DUF2781; Protein of unknown function (DUF2781)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    28319200..28328685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    29261048..29270533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)