STOM stomatin [Homo sapiens (human)] - Gene

Summary

Official Symbol: STOMprovided by HGNC
Official Full Name: stomatinprovided by HGNC
Primary source: HGNC:HGNC:3383
See related: Ensembl:ENSG00000148175 MIM:133090; AllianceGenome:HGNC:3383
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BND7; EPB7; EPB72
Summary: This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Expression: Ubiquitous expression in fat (RPKM 161.3), bone marrow (RPKM 127.5) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (121338987..121370250, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (133534978..133566240, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (124101265..124132528, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Stomatin promotes neutrophil degranulation and vascular leakage in the early stage after severe burn via enhancement of the intracellular binding of neutrophil primary granules to F-actin.
Title: Stomatin promotes neutrophil degranulation and vascular leakage in the early stage after severe burn via enhancement of the intracellular binding of neutrophil primary granules to F-actin.
Mechanosensitive Pannexin 1 Activity Is Modulated by Stomatin in Human Red Blood Cells.
Title: Mechanosensitive Pannexin 1 Activity Is Modulated by Stomatin in Human Red Blood Cells.
Cell-to-cell contact-mediated regulation of tumor behavior in the tumor microenvironment.
Title: Cell-to-cell contact-mediated regulation of tumor behavior in the tumor microenvironment.
Stomatin-Mediated Inhibition of the Akt Signaling Axis Suppresses Tumor Growth.
Title: Stomatin-Mediated Inhibition of the Akt Signaling Axis Suppresses Tumor Growth.
Stomatin is highly expressed in exosomes of different origin and is a promising candidate as an exosomal marker.
Title: Stomatin is highly expressed in exosomes of different origin and is a promising candidate as an exosomal marker.
The Lipid Raft Component Stomatin Interacts with the Na(+) Taurocholate Cotransporting Polypeptide (NTCP) and Modulates Bile Salt Uptake.
Title: The Lipid Raft Component Stomatin Interacts with the Na(+) Taurocholate Cotransporting Polypeptide (NTCP) and Modulates Bile Salt Uptake.
we show that stomatin modulates the transport activity of AE1 through a direct protein-protein interaction.
Title: Stomatin modulates the activity of the Anion Exchanger 1 (AE1, SLC4A1).
These results may suggest that stomatin is a new prognostic indicator for HER2-positive breast cancer
Title: Decreased expression of stomatin predicts poor prognosis in HER2-positive breast cancer.
FRAP analyses indicate that the stomatin C-terminus is the dominant entity for lateral mobility and binding site for the cortical actin cytoskeleton
Title: Structure-function analysis of human stomatin: A mutation study.
This study showed that cells expressing more stomatin or exposed to exogenous stomatin are more prone to undergoing cell fusion; during osteoclastogenesis, depletion of stomatin inhibited cell fusion but had little effect on tartrate-resistant acid phosphatase production.
Title: Lipid raft-associated stomatin enhances cell fusion.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

G54688 (e-PCR)
- UniSTS:117791

STS-U33931 (e-PCR)
- UniSTS:74321

RH11801 (e-PCR)
- UniSTS:51795

G59634 (e-PCR)
- UniSTS:136790

D11S3114 (e-PCR)
- UniSTS:152207

D9S1964 (e-PCR)
- UniSTS:58791

G35308 (e-PCR)
- UniSTS:54201

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ion channel inhibitor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in positive regulation by host of viral genome replication	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein targeting to membrane	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of viral process	IEA Inferred from Electronic Annotation more info
involved_in regulation of monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in blood microparticle	HDA more info	PubMed
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: stomatin

Names: erythrocyte band 7 integral membrane protein; erythrocyte membrane protein band 7.2 (stomatin); erythrocyte surface protein band 7.2; protein 7.2b

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)

NM_001270526.2 → NP_001257455.1 stomatin isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses two alternate splice sites in the 3' coding region, which result in a frameshift, compared to variant 1. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AI224884, AL161784, BI553227, DC368197

Conserved Domains (2) summary

smart00244
Location:52 → 196

PHB; prohibitin homologues

cl19107
Location:73 → 196

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001270527.2 → NP_001257456.1 stomatin isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences include use of alternate splice sites and lack of a 3' coding exon, which result in a frameshift. The encoded isoform (d) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AI224884, AL161784, BP208523, DC368197

Consensus CDS

CCDS75892.1

UniProtKB/TrEMBL

F8VSL7

Related

ENSP00000445764.2, ENST00000538954.5

Conserved Domains (1) summary

cl19107
Location:73 → 167

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_004099.6 → NP_004090.4 stomatin isoform a

See identical proteins and their annotated locations for NP_004090.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AI224884, AL161784, DC368197, X60067

Consensus CDS

CCDS6830.1

UniProtKB/Swiss-Prot

B1AM77, P27105, Q14087, Q15609, Q5VX96, Q96FK4

UniProtKB/TrEMBL

B4DZK8

Related

ENSP00000286713.2, ENST00000286713.7

Conserved Domains (1) summary

cd03403
Location:73 → 274

SPFH_stomatin; Stomatin, a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_198194.3 → NP_937837.1 stomatin isoform b

See identical proteins and their annotated locations for NP_937837.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several alternate exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AI224884, AL161784, BG701899, DC368197

Consensus CDS

CCDS6831.1

UniProtKB/Swiss-Prot

P27105

Related

ENSP00000339607.2, ENST00000347359.3

Conserved Domains (1) summary

cl19107
Location:55 → 109

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RNA

NR_073037.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI224884, AK304449, AL161784, DC368197