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Aliases for STOML2 Gene

Aliases for STOML2 Gene

  • Stomatin (EPB72)-Like 2 2 3
  • Paraprotein Target 7 3 4
  • EPB72-Like Protein 2 3 4
  • Paratarg-7 3 4
  • SLP-2 3 4
  • Stomatin-Like Protein 2, Mitochondrial 3
  • 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 (EPB72)-Like 2) is a Protein Coding gene. Diseases associated with STOML2 include acromesomelic dysplasia. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for STOML2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys140 and Lys145
  • Modification sites at PhosphoSitePlus

Other Protein References for STOML2 Gene

Antibody Products

No data available for DME Specific Peptides for STOML2 Gene

Domains 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 :
  • Q9UJZ1
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:0005102 receptor binding TAS 10713127
GO:0005515 protein binding IPI 17121834
GO:0051020 GTPase binding IPI 24337748
GO:1901612 cardiolipin binding IDA 21746876
genes like me logo Genes that share ontologies with STOML2: view

Phenotypes for STOML2 Gene

MGI mutant phenotypes for STOML2:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with STOML2: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for STOML2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for STOML2 Gene

Localization for STOML2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STOML2 Gene

Mitochondrion inner membrane. Mitochondrion intermembrane space. Cell membrane; Peripheral membrane protein. Membrane raft; Peripheral membrane protein. Note=Behaves as an integral membrane protein of the mitochondrion despite the absence of a detectable transmembrane domain. A minor pool is associated with the plasma membrane and is enriched at the immunological synapse in activated T-cells. Also associates with the actin cytoskeleton and membrane rafts in activated T-cells.

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 3

Gene Ontology (GO) - Cellular Components for STOML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 colocalizes_with immunological synapse IDA 22623988
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane IDA 17121834
GO:0005758 mitochondrial intermembrane space IDA 17121834
GO:0005856 cytoskeleton TAS 10713127
genes like me logo Genes that share ontologies with STOML2: view

Pathways 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:0006851 mitochondrial calcium ion transport IMP 19944461
GO:0006874 cellular calcium ion homeostasis IMP 19944461
GO:0007005 mitochondrion organization IMP 21746876
GO:0010876 lipid localization ISS --
GO:0010918 positive regulation of mitochondrial membrane potential IMP 17121834
genes like me logo Genes that share ontologies with STOML2: view

No data available for Pathways by source for STOML2 Gene

Transcripts for STOML2 Gene

Unigene Clusters for STOML2 Gene

Stomatin (EPB72)-like 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for STOML2

Primer Products

Flow Cytometry Products

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

Protein differential expression in normal tissues for STOML2 Gene

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

Integrated Proteomics: protein expression 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 expressions with STOML2: view

Expression partners for STOML2 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
cow
(Bos Taurus)
Mammalia STOML2 35
  • 92.98 (n)
  • 96.07 (a)
STOML2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STOML2 35
  • 93.91 (n)
  • 97.75 (a)
mouse
(Mus musculus)
Mammalia Stoml2 35
  • 89.42 (n)
  • 94.62 (a)
Stoml2 16
Stoml2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia STOML2 35
  • 99.72 (n)
  • 100 (a)
STOML2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stoml2 35
  • 89.42 (n)
  • 94.33 (a)
oppossum
(Monodelphis domestica)
Mammalia STOML2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STOML2 36
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves STOML2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 71 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia stoml2 35
  • 72.58 (n)
  • 80.23 (a)
Str.1428 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25623 35
zebrafish
(Danio rerio)
Actinopterygii stoml2 35
  • 70.29 (n)
  • 81.99 (a)
zgc63505 35
stoml2 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2970 37
  • 66 (a)
CG2970 35
  • 63.2 (n)
  • 66.06 (a)
CG2970 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009439 35
  • 65.17 (n)
  • 66.67 (a)
worm
(Caenorhabditis elegans)
Secernentea stl-1 37
  • 59 (a)
stl-1 35
  • 58.52 (n)
  • 60.95 (a)
stl-1 36
  • 60 (a)
OneToOne
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)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8638 35
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 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 MAF
rs525052 -- 35,099,339(-) GAGGC(C/T)GAGGT downstream-variant-500B
rs586017 -- 35,100,572(+) GCTCT(A/G)TGCTG intron-variant
rs651424 -- 35,099,363(+) ATTAC(A/G)GGTGT downstream-variant-500B
rs664357 -- 35,100,005(+) CTTGT(A/C/G/T)CCCAG utr-variant-3-prime
rs666549 -- 35,100,471(+) AAGAA(C/T)GAAGG 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

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

MalaCards: The human disease database.

Search for STOML2 Gene in MalaCards »

(1) Diseases for STOML2 Gene including...

(2) University of Copenhagen DISEASES for STOML2 Gene

(7) Novoseek inferred disease relationships for STOML2 Gene

Disease -log(P) Hits PubMed IDs
endometrial carcinoma 42.6 9
carcinoma squamous cell 40.6 8
dysplasia 24.2 2
metastasis 22.9 9
shock 7.67 2

Relevant External Links for STOML2

Genetic Association Database (GAD)
STOML2
Human Genome Epidemiology (HuGE) Navigator
STOML2
genes like me logo Genes that share disorders with STOML2: view

No data available for OMIM , 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
  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 4 23
  3. Mass spectrometrical verification of stomatin-like protein 2 (SLP-2) primary structure. (PMID: 16671055) John J.P. … Lubec G. (Proteins 2006) 3 4 23
  4. A novel member of the stomatin/EPB72/mec-2 family, stomatin-like 2 (STOML2), is ubiquitously expressed and localizes to HSA chromosome 9p13.1. (PMID: 11435687) Owczarek C.M. … Hertzog P.J. (Cytogenet. Cell Genet. 2001) 3 4 23
  5. Modulation of T cell activation by stomatin-like protein 2. (PMID: 18641330) Kirchhof M.G. … Madrenas J. (J. Immunol. 2008) 3 4 23

Products for STOML2 Gene

Sources for STOML2 Gene

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