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    STOML2 stomatin like 2 [ Homo sapiens (human) ]

    Gene ID: 30968, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 27.8), heart (RPKM 26.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001287031.2NP_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:41269
      HflC; Regulator of protease activity HflC, stomatin/prohibitin superfamily [Posttranslational modification, protein turnover, chaperones]
      cd08829
      Location:74147
      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_001287032.1NP_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:2263
      HflC; Regulator of protease activity HflC, stomatin/prohibitin superfamily [Posttranslational modification, protein turnover, chaperones]
      cd08829
      Location:23133
      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:208270
      Band_7_C; C-terminal region of band_7
    3. NM_001287033.2NP_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:4268
      HflC; Regulator of protease activity HflC, stomatin/prohibitin superfamily [Posttranslational modification, protein turnover, chaperones]
      cd08829
      Location:28138
      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_013442.3NP_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:41314
      HflC; Regulator of protease activity HflC, stomatin/prohibitin superfamily [Posttranslational modification, protein turnover, chaperones]
      cd08829
      Location:74184
      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)