STOML3 stomatin like 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STOML3provided by HGNC
Official Full Name: stomatin like 3provided by HGNC
Primary source: HGNC:HGNC:19420
See related: Ensembl:ENSG00000133115 MIM:608327; AllianceGenome:HGNC:19420
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: SRO; Epb7.2l
Summary: Predicted to act upstream of or within signal transduction. Predicted to be located in cilium; membrane raft; and neuron projection. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lung (RPKM 1.0), endometrium (RPKM 0.3) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (38965925..38990831, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (38185480..38210474, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (39540062..39564968, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Amplification of the STOML3 gene is associated with mesenchymal differentiation in gliosarcoma.
Title: Amplification of the STOML3, FREM2, and LHFP genes is associated with mesenchymal differentiation in gliosarcoma.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of the metabolic syndrome in Indian Asian men. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 biological_process	ND No biological Data available more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in neuron projection	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	TAS Traceable Author Statement more info

General protein information

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Preferred Names: stomatin-like protein 3

Names: EPB72-like 3; SLP-3; erythrocyte band 7 integral membrane protein; protein 7.2B; stomatin (EPB72)-like 3

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_001144033.2 → NP_001137505.1 stomatin-like protein 3 isoform 2

See identical proteins and their annotated locations for NP_001137505.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an additional in-frame coding exon compared to transcript variant 1. This results in translation initiation from a downstream AUG found in this novel exon, and a shorter isoform (2) with a distinct N-terminus compared to isoform 1.

Source sequence(s)

AK304159, BC025760, BM982114, DB200356

Consensus CDS

CCDS45040.1

UniProtKB/TrEMBL

B2R944

Related

ENSP00000401989.1, ENST00000423210.1

Conserved Domains (1) summary

cl19107
Location:64 → 262

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_145286.3 → NP_660329.1 stomatin-like protein 3 isoform 1

See identical proteins and their annotated locations for NP_660329.1

Status: VALIDATED

Description

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

Source sequence(s)

BC025760, BM982114

Consensus CDS

CCDS9367.1

UniProtKB/Swiss-Prot

B4E285, Q5JS35, Q8TAV4

UniProtKB/TrEMBL

B2R944

Related

ENSP00000368952.4, ENST00000379631.9

Conserved Domains (1) summary

cl19107
Location:73 → 271

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