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    STOML3 stomatin like 3 [ Homo sapiens (human) ]

    Gene ID: 161003, updated on 3-Nov-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; 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

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    See STOML3 in Genome Data Viewer
    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_000013.11Genomic 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 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 (13) 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_2024_08

    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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