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    STOML2 stomatin (EPB72)-like 2 [ Homo sapiens ]

    Gene ID: 30968, updated on 20-May-2012
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    Summary

    Official Symbol
    STOML2provided by HGNC
    Official Full Name
    stomatin (EPB72)-like 2provided by HGNC
    Primary source
    HGNC:14559
    Locus tag
    HSPC108
    See related
    Ensembl:ENSG00000165283; HPRD:16310; MIM:608292; Vega:OTTHUMG00000019851
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SLP-2; HSPC108
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    Genomic context

    Location :
    9p13.1
    Sequence :
    Chromosome: 9; NC_000009.11 (35099893..35103154, complement)
    See STOML2 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene Fanconi anemia, complementation group G Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class O Neighboring gene family with sequence similarity 214, member B Neighboring gene zinc finger protein 492 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Identification and validation of novel serum markers for early diagnosis of endometriosis. Gajbhiye R, et al. Hum Reprod, 2012 Feb. PMID 22158085.
    2. SLP-2 overexpression could serve as a prognostic factor in node positive and HER2 negative breast cancer. Cao W, et al. Pathology, 2011 Dec. PMID 22081131.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Stomatin-like protein 2 binds cardiolipin and regulates mitochondrial biogenesis and function. Christie DA, et al. Mol Cell Biol, 2011 Sep. PMID 21746876.

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. investigation of biomarkers for early diagnosis of endometriosis: Data suggest that SLP2, tropomyosin 3, and tropomodulin 3 are autoantigens present in blood of women with endometriosis; immunodominant epitopes were identified.
      Title: Identification and validation of novel serum markers for early diagnosis of endometriosis.
    2. SLP-2 and HER2/neu can play a role in lymph node/distant metastases of breast cancers
      Title: SLP-2 overexpression could serve as a prognostic factor in node positive and HER2 negative breast cancer.
    3. We propose that the function of SLP-2 is to recruit prohibitins to cardiolipin to form cardiolipin-enriched microdomains in which electron transport complexes are optimally assembled.
      Title: Stomatin-like protein 2 binds cardiolipin and regulates mitochondrial biogenesis and function.
    4. plasma concentrations of stomatin (EPB72)-like 2 in early-stage colorectal cancer patients were elevated as compared with those of healthy individuals
      Title: An informatics-assisted label-free approach for personalized tissue membrane proteomics: case study on colorectal cancer.
    5. The dominant inheritance of hyperphosphorylated paratarg-7 explains cases of familial IgM monoclonal gammopathy of undetermined significance and Waldenstrom macroglobulinemia
      Title: Hyperphosphorylated paratarg-7: a new molecularly defined risk factor for monoclonal gammopathy of undetermined significance of the IgM type and Waldenstrom macroglobulinemia.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. negatively modulates mitochondrial sodium-calcium exchange
      Title: SLP-2 negatively modulates mitochondrial sodium-calcium exchange.
    8. SLP-2 overexpression is associated with tumour distant metastasis and poor prognosis in pulmonary squamous cell carcinoma.
      Title: SLP-2 overexpression is associated with tumour distant metastasis and poor prognosis in pulmonary squamous cell carcinoma.
    9. Familial MGUS and multiple myeloma were associated with a dominant inheritance of hyperphosphorylated paratarg-7
      Title: Association of a dominantly inherited hyperphosphorylated paraprotein target with sporadic and familial multiple myeloma and monoclonal gammopathy of undetermined significance: a case-control study.
    10. Endosymbiotic origin of paraslipin from an alphaprotoebacterial ancestor (SLP-2)
      Title: Slipins: ancient origin, duplication and diversification of the stomatin protein family.
    Submit: New GeneRIF Correction See all (15)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9UJZ1 Q6EEV6 SUMO4    HPRD  PubMed  
    BioGRID:119062 BioGRID:109622 ICT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119062 BioGRID:132223 SUMO4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119062 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with signalosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    stomatin-like protein 2
    Names
    stomatin-like protein 2
    stomatin-like 2
    EPB72-like protein 2
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    NCBI Reference Sequences (RefSeq)

    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_013442.1 → NP_038470.1  stomatin-like protein 2

      Status: PROVISIONAL

      Source sequence(s)
      AF190167
      Consensus CDS
      CCDS6577.1
      UniProtKB/Swiss-Prot
      Q9UJZ1
      Related
      ENSP00000348886, OTTHUMP00000021320, ENST00000356493, OTTHUMT00000052273
      Conserved Domains (1) summary
      cd03403
      Location:41 – 239
      Blast Score: 678
      Band_7_stomatin_like; Band_7_stomatin_like: A subgroup of the band 7 domain of flotillin (reggie) like proteins similar to stomatin and podicin (two lipid raft-associated integral membrane proteins). Individual proteins of this band 7 domain family may cluster to form ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p5 Primary Assembly

      Range
      35099893..35103154, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      35055364..35058623, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004472.1 AAC07983.1
    genomic AL353795.13 CAH70998.1
    genomic CH471071.2 EAW58394.1
      EAW58395.1
      EAW58396.1
    genomic CQ815083.1 CAG30023.1
    genomic CQ834374.1 CAH05402.1
    mRNA AF161458.1 AAF29073.1
    mRNA AF190167.1 AAF09142.1
    mRNA AF282596.1 AAF91466.1
    mRNA AK027405.1 BAB55091.1
    mRNA AK130546.1 BAC85377.1
    mRNA AK223102.1 BAD96822.1
    mRNA AK225114.1 None
    mRNA AK303883.1 BAG64819.1
    mRNA AK307343.1 None
    mRNA BC002442.2 AAH02442.1
    mRNA BC003025.1 AAH03025.1
    mRNA BC010152.2 AAH10152.1
    mRNA BC014990.1 AAH14990.1
    other-genetic DQ892677.2 ABM83603.1
    other-genetic DQ895920.2 ABM86846.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNW0 GenPept UniProtKB/TrEMBL:Q6ZNW0
    Q9UJZ1.1 GenPept UniProtKB/Swiss-Prot:Q9UJZ1
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    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
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      Supplemental Content

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