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STOML3 stomatin like 3 [ Homo sapiens (human) ]

Gene ID: 161003, updated on 5-Mar-2024

Summary

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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 and membrane raft. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lung (RPKM 1.0), endometrium (RPKM 0.3) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
13q13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (38965925..38990831, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (38185480..38210474, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (39540062..39564968, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene phospholipase A2 group XIIA pseudogene 2 Neighboring gene ankyrin repeat domain 26 pseudogene 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:39495093-39496292 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32865 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:39527838-39528010 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32869 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32870 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:39580698-39581306 Neighboring gene proline and serine rich 1 Neighboring gene Sharpr-MPRA regulatory region 13170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5275 Neighboring gene NHL repeat containing 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Amplification of the STOML3, FREM2, and LHFP genes is associated with mesenchymal differentiation in gliosarcoma. Nagaishi M, et al. Am J Pathol, 2012 May. PMID 22538188
  2. Stomatin-related olfactory protein, SRO, specifically expressed in the murine olfactory sensory neurons. Kobayakawa K, et al. J Neurosci, 2002 Jul 15. PMID 12122055, Free PMC Article
  3. A genome-wide association study of the metabolic syndrome in Indian Asian men. Zabaneh D, et al. PLoS One, 2010 Aug 4. PMID 20694148, Free PMC Article
  4. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
  5. The DNA sequence and analysis of human chromosome 13. Dunham A, et al. Nature, 2004 Apr 1. PMID 15057823, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

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)

  1. 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

  2. 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

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    38965925..38990831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020400.1 → XP_016875889.1  stomatin-like protein 3 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    38185480..38210474 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374144.1 → XP_054230119.1  stomatin-like protein 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TAV4.1 GenPept UniProtKB/Swiss-Prot:Q8TAV4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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