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    STOML2 stomatin like 2 [ Homo sapiens (human) ]

    Gene ID: 30968, updated on 3-Nov-2024

    Summary

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    Official Symbol
    STOML2provided by HGNC
    Official Full Name
    stomatin like 2provided by HGNC
    Primary source
    HGNC:HGNC:14559
    See related
    Ensembl:ENSG00000165283 MIM:608292; AllianceGenome:HGNC:14559
    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
    SLP-2; HSPC108
    Summary
    Enables GTPase binding activity; T cell receptor binding activity; and cardiolipin binding activity. Involved in intracellular calcium ion homeostasis; mitochondrion organization; and protein complex oligomerization. Acts upstream of or within T cell receptor signaling pathway. Located in several cellular components, including immunological synapse; membrane raft; and mitochondrial envelope. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 27.8), heart (RPKM 26.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STOML2 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35099776..35103195, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35118954..35122373, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35099773..35103192, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35078961-35079568 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:35079644-35079809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35080785-35081391 Neighboring gene FA complementation group G Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28320 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class O Neighboring gene PIGO antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28324 Neighboring gene GATA motif-containing MPRA enhancer 90 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19860 Neighboring gene atos homolog B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19861 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35113841-35114670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19862 Neighboring gene zinc finger protein 492 pseudogene

    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. STOML2 restricts mitophagy and increases chemosensitivity in pancreatic cancer through stabilizing PARL-induced PINK1 degradation. Qin C, et al. Cell Death Dis, 2023 Mar 11. PMID 36906621, Free PMC Article
    2. Stomatin-like protein 2 is overexpressed and related to cell growth in human endometrial adenocarcinoma. Cui Z, et al. Oncol Rep, 2007 Apr. PMID 17342323
    3. Mass spectrometrical verification of stomatin-like protein 2 (SLP-2) primary structure. John JP, et al. Proteins, 2006 Aug 1. PMID 16671055
    4. Stomatin-like protein 2 is overexpressed in cancer and involved in regulating cell growth and cell adhesion in human esophageal squamous cell carcinoma. Zhang L, et al. Clin Cancer Res, 2006 Mar 1. PMID 16533792
    5. Incidence and inheritance of hyperphosphorylated paratarg-7 in patients with Waldenstrom's macroglobulinaemia in Sweden. Brandefors L, et al. Acta Oncol, 2019 Jun. PMID 30888245

    See all (198) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Diagnostic and prognostic utility of TROP-2, SLP-2, and CXCL12 expression in papillary thyroid carcinoma.
      Title: Diagnostic and prognostic utility of TROP-2, SLP-2, and CXCL12 expression in papillary thyroid carcinoma.
    2. Overexpressing lipid raft protein STOML2 modulates the tumor microenvironment via NF-kappaB signaling in colorectal cancer.
      Title: Overexpressing lipid raft protein STOML2 modulates the tumor microenvironment via NF-κB signaling in colorectal cancer.
    3. STOML2 restricts mitophagy and increases chemosensitivity in pancreatic cancer through stabilizing PARL-induced PINK1 degradation.
      Title: STOML2 restricts mitophagy and increases chemosensitivity in pancreatic cancer through stabilizing PARL-induced PINK1 degradation.
    4. CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
      Title: CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
    5. Characterization of the interactome of c-Src within the mitochondrial matrix by proximity-dependent biotin identification.
      Title: Characterization of the interactome of c-Src within the mitochondrial matrix by proximity-dependent biotin identification.
    6. Stomatinlike protein 2 induces metastasis by regulating the expression of a ratelimiting enzyme of the hexosamine biosynthetic pathway in pancreatic cancer.
      Title: Stomatin‑like protein 2 induces metastasis by regulating the expression of a rate‑limiting enzyme of the hexosamine biosynthetic pathway in pancreatic cancer.
    7. Stomatin-Like Protein-2: A Potential Target to Treat Mitochondrial Cardiomyopathy.
      Title: Stomatin-Like Protein-2: A Potential Target to Treat Mitochondrial Cardiomyopathy.
    8. Stomatin-like protein 2 (SLP2) regulates the proliferation and invasion of trophoblast cells by modulating mitochondrial functions.
      Title: Stomatin-like protein 2 (SLP2) regulates the proliferation and invasion of trophoblast cells by modulating mitochondrial functions.
    9. STOML2 potentiates metastasis of hepatocellular carcinoma by promoting PINK1-mediated mitophagy and regulates sensitivity to lenvatinib.
      Title: STOML2 potentiates metastasis of hepatocellular carcinoma by promoting PINK1-mediated mitophagy and regulates sensitivity to lenvatinib.
    10. Clinical significance of SLP-2 in epithelial ovarian cancer and its regulatory effect on the Notch signaling pathway.
      Title: Clinical significance of SLP-2 in epithelial ovarian cancer and its regulatory effect on the Notch signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (47)

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of stomatin (EPB72)-like 2 (SLP-2) in umbilical cord blood mononuclear cells and T-cell lines PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with stomatin (EPB72)-like 2 (STOML2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of stomatin (EPB72)-like 2 (STOML2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ98593

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables T cell receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cardiolipin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CD4-positive, alpha-beta T cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within T cell receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipid localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial protein processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-2 production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein complex oligomerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stress-induced mitochondrial fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in immunological synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    stomatin-like protein 2, mitochondrial
    Names
    EPB72-like 2
    EPB72-like protein 2
    paraprotein target 7
    paratarg-7
    stomatin (EPB72)-like 2

    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_001287031.2 → NP_001273960.1  stomatin-like protein 2, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_001273960.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AA657517, AK303883, AW273545, HY367065
      Consensus CDS
      CCDS69588.1
      UniProtKB/Swiss-Prot
      Q9UJZ1
      Related
      ENSP00000395743.2, ENST00000452248.6
      Conserved Domains (2) summary
      COG0330
      Location:41 → 269
      HflC; Regulator of protease activity HflC, stomatin/prohibitin superfamily [Posttranslational modification, protein turnover, chaperones]
      cd08829
      Location:74 → 147
      SPFH_paraslipin; Paraslipin or slipin-2 (SLP-2, a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    2. NM_001287032.1 → NP_001273961.1  stomatin-like protein 2, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001273961.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AA657517, AF190167, AW273545, BQ935988, BX400542, HY039403, HY367065
      UniProtKB/Swiss-Prot
      Q9UJZ1
      Conserved Domains (3) summary
      COG0330
      Location:2 → 263
      HflC; Regulator of protease activity HflC, stomatin/prohibitin superfamily [Posttranslational modification, protein turnover, chaperones]
      cd08829
      Location:23 → 133
      SPFH_paraslipin; Paraslipin or slipin-2 (SLP-2, a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
      pfam16200
      Location:208 → 270
      Band_7_C; C-terminal region of band_7

    3. NM_001287033.2 → NP_001273962.1  stomatin-like protein 2, mitochondrial isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (d) that is shorter than isoform a.
      Source sequence(s)
      AA657517, AW273545, BU528995, HY039403, HY367065
      Consensus CDS
      CCDS75830.1
      UniProtKB/TrEMBL
      A0A087WYB4
      Related
      ENSP00000481672.1, ENST00000619795.4
      Conserved Domains (2) summary
      COG0330
      Location:4 → 268
      HflC; Regulator of protease activity HflC, stomatin/prohibitin superfamily [Posttranslational modification, protein turnover, chaperones]
      cd08829
      Location:28 → 138
      SPFH_paraslipin; Paraslipin or slipin-2 (SLP-2, a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    4. NM_013442.3 → NP_038470.1  stomatin-like protein 2, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_038470.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AA657517, AF190167, AW273545, HY367065
      Consensus CDS
      CCDS6577.1
      UniProtKB/Swiss-Prot
      B4E1K7, D3DRN3, O60376, Q53G29, Q96FY2, Q9P042, Q9UJZ1
      Related
      ENSP00000348886.5, ENST00000356493.10
      Conserved Domains (2) summary
      COG0330
      Location:41 → 314
      HflC; Regulator of protease activity HflC, stomatin/prohibitin superfamily [Posttranslational modification, protein turnover, chaperones]
      cd08829
      Location:74 → 184
      SPFH_paraslipin; Paraslipin or slipin-2 (SLP-2, a subgroup of the stomatin-like proteins (slipins) family; belonging to 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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35099776..35103195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35118954..35122373 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJZ1.1 GenPept UniProtKB/Swiss-Prot:Q9UJZ1

    Gene LinkOut

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

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