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STOML2 stomatin like 2 [ Homo sapiens (human) ]

Gene ID: 30968, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in kidney (RPKM 27.8), heart (RPKM 26.8) and 25 other tissues See more
Orthologs
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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: 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

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)