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Aliases for STOML2 Gene

Aliases for STOML2 Gene

  • Stomatin Like 2 2 3 5
  • Stomatin (EPB72)-Like 2 2 3
  • Paraprotein Target 7 3 4
  • EPB72-Like Protein 2 3 4
  • EPB72-Like 2 2 3
  • Paratarg-7 3 4
  • SLP-2 3 4
  • Stomatin-Like 2 3
  • HSPC108 3
  • SLP2 4

External Ids for STOML2 Gene

Previous GeneCards Identifiers for STOML2 Gene

  • GC09M035412
  • GC09M035269
  • GC09M035089

Summaries for STOML2 Gene

GeneCards Summary for STOML2 Gene

STOML2 (Stomatin Like 2) is a Protein Coding gene. Diseases associated with STOML2 include multiple myeloma and myeloma. GO annotations related to this gene include receptor binding and cardiolipin binding. An important paralog of this gene is STOML3.

UniProtKB/Swiss-Prot for STOML2 Gene

  • Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. May play a role in calcium homeostasis through negative regulation of calcium efflux from mitochondria. Required for mitochondrial hyperfusion a pro-survival cellular response to stress which results in increased ATP production by mitochondria. May also regulate the organization of functional domains at the plasma membrane and play a role in T-cell activation through association with the T-cell receptor signaling complex and its regulation.

Gene Wiki entry for STOML2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STOML2 Gene

Genomics for STOML2 Gene

Regulatory Elements for STOML2 Gene

Promoters for STOML2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STOML2 on UCSC Golden Path with GeneCards custom track

Genomic Location for STOML2 Gene

Chromosome:
9
Start:
35,099,776 bp from pter
End:
35,103,195 bp from pter
Size:
3,420 bases
Orientation:
Minus strand

Genomic View for STOML2 Gene

Genes around STOML2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STOML2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STOML2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STOML2 Gene

Proteins for STOML2 Gene

  • Protein details for STOML2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJZ1-STML2_HUMAN
    Recommended name:
    Stomatin-like protein 2, mitochondrial
    Protein Accession:
    Q9UJZ1
    Secondary Accessions:
    • B4E1K7
    • D3DRN3
    • O60376
    • Q53G29
    • Q96FY2
    • Q9P042

    Protein attributes for STOML2 Gene

    Size:
    356 amino acids
    Molecular mass:
    38534 Da
    Quaternary structure:
    • Forms homooligomers. Interacts with MFN2; may form heterooligomers. Interacts with CACNA2D2 (By similarity). Interacts with PHB and PHB2; recruits them to cardiolipin-enriched mitochondrial membranes and stabilizes them.
    Miscellaneous:
    • Paratarg-7/STOML2 is a frequent autoantigenic target in monoclonal gammopathy of undetermined significance (MGUS), multiple myeloma (MM) and Waldenstrom macroglobulinemia, 3 B-cell neoplasms associated with excessive secretion of a single monoclonal gammaglobulin (also named paraprotein) in the blood.
    SequenceCaution:
    • Sequence=AAC07983.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAF29073.1; Type=Frameshift; Positions=14, 26; Evidence={ECO:0000305};

    Alternative splice isoforms for STOML2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STOML2 Gene

Proteomics data for STOML2 Gene at MOPED

Post-translational modifications for STOML2 Gene

  • Hyperphosphorylated at Ser-17 in some patients with monoclonal gammopathy of undetermined significance (MGUS), multiple myeloma (MM) and Waldenstrom macroglobulinemia due to impaired dephosphorylation by PP2A.
  • Ubiquitination at Lys 145
  • Modification sites at PhosphoSitePlus

Other Protein References for STOML2 Gene

No data available for DME Specific Peptides for STOML2 Gene

Domains & Families for STOML2 Gene

Protein Domains for STOML2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for STOML2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJZ1

UniProtKB/Swiss-Prot:

STML2_HUMAN :
  • Belongs to the band 7/mec-2 family.
Family:
  • Belongs to the band 7/mec-2 family.
genes like me logo Genes that share domains with STOML2: view

No data available for Gene Families for STOML2 Gene

Function for STOML2 Gene

Molecular function for STOML2 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. May play a role in calcium homeostasis through negative regulation of calcium efflux from mitochondria. Required for mitochondrial hyperfusion a pro-survival cellular response to stress which results in increased ATP production by mitochondria. May also regulate the organization of functional domains at the plasma membrane and play a role in T-cell activation through association with the T-cell receptor signaling complex and its regulation.
UniProtKB/Swiss-Prot Induction:
Up-regulated in activated B- and T-cells and upon mitochondrial stress by chloramphenicol.

Gene Ontology (GO) - Molecular Function for STOML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1901612 cardiolipin binding IDA 21746876
genes like me logo Genes that share ontologies with STOML2: view
genes like me logo Genes that share phenotypes with STOML2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for STOML2 Gene

Localization for STOML2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STOML2 Gene

Cell membrane; Peripheral membrane protein. Mitochondrion. Mitochondrion inner membrane; Lipid-anchor. Mitochondrion intermembrane space. Membrane raft. Cytoplasm, cytoskeleton. Note=Behaves as an integral membrane protein of the mitochondrion despite the absence of a detectable transmembrane domain (PubMed:21746876). Also associates with the actin cytoskeleton and membrane rafts in activated T-cells (PubMed:18641330, PubMed:10713127). A minor pool is associated with the plasma membrane and is enriched at the immunological synapse in activated T-cells (PubMed:22623988). {ECO:0000269 PubMed:10713127, ECO:0000269 PubMed:18641330, ECO:0000269 PubMed:21746876, ECO:0000269 PubMed:22623988}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STOML2 Gene COMPARTMENTS Subcellular localization image for STOML2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 5
cytoskeleton 4
cytosol 2

Gene Ontology (GO) - Cellular Components for STOML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IDA 17121834
GO:0005856 cytoskeleton TAS 10713127
GO:0019897 extrinsic component of plasma membrane IDA 22623988
GO:0042101 colocalizes_with T cell receptor complex IDA 18641330
genes like me logo Genes that share ontologies with STOML2: view

Pathways & Interactions for STOML2 Gene

SuperPathways for STOML2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for STOML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006874 cellular calcium ion homeostasis IMP 19944461
GO:0007005 mitochondrion organization IMP 21746876
GO:0010876 lipid localization ISS --
GO:0032623 interleukin-2 production ISS --
GO:0035710 CD4-positive, alpha-beta T cell activation ISS --
genes like me logo Genes that share ontologies with STOML2: view

No data available for Pathways by source and SIGNOR curated interactions for STOML2 Gene

Drugs & Compounds for STOML2 Gene

No Compound Related Data Available

Transcripts for STOML2 Gene

Unigene Clusters for STOML2 Gene

Stomatin (EPB72)-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STOML2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - -
SP5: -
SP6: - - -
SP7: - - - - - - - - - -
SP8:
SP9: - - -
SP10:
SP11: - -

Relevant External Links for STOML2 Gene

GeneLoc Exon Structure for
STOML2
ECgene alternative splicing isoforms for
STOML2

Expression for STOML2 Gene

mRNA expression in normal human tissues for STOML2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STOML2 Gene

This gene is overexpressed in Bone (10.9) and Nasal epithelium (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for STOML2 Gene



SOURCE GeneReport for Unigene cluster for STOML2 Gene Hs.3439

mRNA Expression by UniProt/SwissProt for STOML2 Gene

Q9UJZ1-STML2_HUMAN
Tissue specificity: Ubiquitously expressed at low levels. Expressed in lymphoid tissues (at protein level).
genes like me logo Genes that share expression patterns with STOML2: view

Protein tissue co-expression partners for STOML2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for STOML2 Gene

Orthologs for STOML2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for STOML2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STOML2 36
  • 100 (a)
OneToOne
STOML2 35
  • 99.72 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia STOML2 36
  • 96 (a)
OneToOne
STOML2 35
  • 92.98 (n)
  • 96.07 (a)
dog
(Canis familiaris)
Mammalia STOML2 35
  • 93.91 (n)
  • 97.75 (a)
mouse
(Mus musculus)
Mammalia Stoml2 16
Stoml2 35
  • 89.42 (n)
  • 94.62 (a)
Stoml2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STOML2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STOML2 36
  • 35 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stoml2 35
  • 89.42 (n)
  • 94.33 (a)
chicken
(Gallus gallus)
Aves STOML2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 71 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.25623 35
tropical clawed frog
(Silurana tropicalis)
Amphibia stoml2 35
  • 72.58 (n)
  • 80.23 (a)
Str.1428 35
zebrafish
(Danio rerio)
Actinopterygii stoml2 35
  • 70.29 (n)
  • 81.99 (a)
zgc63505 35
stoml2 36
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009439 35
  • 65.17 (n)
  • 66.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2970 37
  • 66 (a)
CG2970 35
  • 63.2 (n)
  • 66.06 (a)
CG2970 36
  • 58 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea stl-1 37
  • 59 (a)
stl-1 36
  • 60 (a)
OneToOne
stl-1 35
  • 58.52 (n)
  • 60.95 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G54100 35
  • 57.96 (n)
  • 55.67 (a)
rice
(Oryza sativa)
Liliopsida Os08g0158500 35
  • 56.69 (n)
  • 54.74 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05633 35
  • 60.82 (n)
  • 61.51 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC16G5.07c 35
  • 56.08 (n)
  • 57.19 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8638 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1681 36
  • 56 (a)
OneToOne
Species with no ortholog for STOML2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STOML2 Gene

ENSEMBL:
Gene Tree for STOML2 (if available)
TreeFam:
Gene Tree for STOML2 (if available)

Paralogs for STOML2 Gene

Paralogs for STOML2 Gene

genes like me logo Genes that share paralogs with STOML2: view

Variants for STOML2 Gene

Sequence variations from dbSNP and Humsavar for STOML2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs17856326 - 35,101,768(+) GAGCT(A/G)GCTGG reference, missense
rs525052 -- 35,099,339(-) GAGGC(C/T)GAGGT downstream-variant-500B
rs666549 -- 35,100,471(+) AAGAA(C/T)GAAGG intron-variant
rs3739868 -- 35,103,568(-) GTGGG(A/T)GTCCT upstream-variant-2KB
rs34240345 -- 35,101,387(+) TGGAG(-/CA)CCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STOML2 Gene

Variant ID Type Subtype PubMed ID
nsv893043 CNV Gain 21882294
nsv893044 CNV Loss 21882294

Variation tolerance for STOML2 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STOML2 Gene

HapMap Linkage Disequilibrium report
STOML2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STOML2 Gene

Disorders for STOML2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for STOML2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
multiple myeloma
  • plasma cell neoplasm
myeloma
  • multiple myeloma
acromesomelic dysplasia
  • acromesomelic dwarfism
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for STOML2

Genetic Association Database (GAD)
STOML2
Human Genome Epidemiology (HuGE) Navigator
STOML2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STOML2
genes like me logo Genes that share disorders with STOML2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STOML2 Gene

Publications for STOML2 Gene

  1. Identification and characterization of human SLP-2, a novel homologue of stomatin (band 7.2b) present in erythrocytes and other tissues. (PMID: 10713127) Wang Y. … Morrow J.S. (J. Biol. Chem. 2000) 2 3 4 23 67
  2. Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2. (PMID: 17121834) Hajek P. … Attardi G. (J. Biol. Chem. 2007) 2 3 23
  3. SLP-2 overexpression is associated with tumour distant metastasis and poor prognosis in pulmonary squamous cell carcinoma. (PMID: 19839737) Chang D. … Wang T.Y. (Biomarkers 2010) 3 23
  4. Modulation of T cell activation by stomatin-like protein 2. (PMID: 18641330) Kirchhof M.G. … Madrenas J. (J. Immunol. 2008) 3 23
  5. Stomatin-like protein 2 is overexpressed and related to cell growth in human endometrial adenocarcinoma. (PMID: 17342323) Cui Z. … Liu Z. (Oncol. Rep. 2007) 3 23

Products for STOML2 Gene

Sources for STOML2 Gene

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