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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 Protein 2, Mitochondrial 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 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

Additional gene information for STOML2 Gene

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

Genomics for STOML2 Gene

Regulatory Elements for STOML2 Gene

Enhancers for STOML2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H034999 1.3 Ensembl ENCODE dbSUPER 10.5 +102.2 102167 3 PKNOX1 TAL1 ETV1 CEBPG BATF FOSL1 TCF12 CTBP1 GATA2 NCOR1 VCP FANCG C9orf131 PHF24 ENSG00000234181 PIGO STOML2 ENSG00000279489 GC09P034997
GH09H035552 1.3 Ensembl ENCODE dbSUPER 9.9 -450.4 -450409 2.7 CTCF KLF1 RB1 SAP130 ARID4B SIN3A RAD21 RFX5 CC2D1A CTBP1 RUSC2 ENSG00000234181 PIGO STOML2 OR13J1 ENSG00000227388 PIR61372 FAM166B
GH09H035078 1 ENCODE 11.6 +23.7 23742 2.8 HDGF ATF1 ARID4B SIN3A DMAP1 YY1 ETS1 ZNF121 SLC30A9 GLIS2 VCP FANCG STOML2 FAM214B PIR34260
GH09H035257 1.1 Ensembl ENCODE 10.5 -155.2 -155165 1.5 ELF3 FOXA2 ATF1 ARID4B RAD21 YY1 ZNF143 CREM MIXL1 THAP11 UNC13B STOML2 ENSG00000234181 PIGO FAM214B FAM205C GC09M035186 ENSG00000279083
GH09H035025 1.1 Ensembl ENCODE 10 +75.9 75923 4.1 PKNOX1 ATF1 TCF12 ZNF766 CREM CAVIN1 REST ZEB2 HDAC8 ZNF592 PIGO FANCG TMEM8B DNAJB5 ENSG00000230074 SPAG8 PHF24 STOML2 ENSG00000234181 CREB3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STOML2 on UCSC Golden Path with GeneCards custom track

Promoters for STOML2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234596 295 1001 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Locations for STOML2 Gene

Genomic Locations for STOML2 Gene
chr9:35,099,776-35,103,195
(GRCh38/hg38)
Size:
3,420 bases
Orientation:
Minus strand
chr9:35,099,888-35,103,154
(GRCh37/hg19)

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

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 posLast=145145
  • Modification sites at PhosphoSitePlus

Other Protein References for STOML2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for STOML2 (SLP-2)
  • Abcam antibodies for STOML2
  • Santa Cruz Biotechnology (SCBT) Antibodies for STOML2

No data available for DME Specific Peptides for STOML2 Gene

Domains & Families for STOML2 Gene

Gene Families for STOML2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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.

Phenotypes From GWAS Catalog for STOML2 Gene

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:0008289 lipid binding IEA --
GO:0051020 GTPase binding IPI 24337748
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STOML2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
cytoskeleton 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

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:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005758 mitochondrial intermembrane space IDA,IEA 17121834
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:0006851 mitochondrial calcium ion transport TAS,IMP --
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 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for STOML2 Gene



Protein tissue co-expression partners for STOML2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STOML2 Gene:

STOML2

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).

Evidence on tissue expression from TISSUES for STOML2 Gene

  • Nervous system(4.9)
  • Pancreas(4.7)
  • Skin(4.7)
  • Lung(4.6)
  • Liver(4.5)
  • Muscle(4.5)
  • Heart(4.4)
  • Blood(4.2)
  • Intestine(2.8)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with STOML2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STOML2 33
  • 93.91 (n)
cow
(Bos Taurus)
Mammalia STOML2 33 34
  • 92.98 (n)
mouse
(Mus musculus)
Mammalia Stoml2 33 16 34
  • 89.42 (n)
rat
(Rattus norvegicus)
Mammalia Stoml2 33
  • 89.42 (n)
oppossum
(Monodelphis domestica)
Mammalia STOML2 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STOML2 34
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves STOML2 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 81 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia stoml2 33
  • 72.58 (n)
Str.1428 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25623 33
zebrafish
(Danio rerio)
Actinopterygii stoml2 34 33
  • 70.29 (n)
OneToOne
zgc63505 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009439 33
  • 65.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2970 35 33 34
  • 63.2 (n)
worm
(Caenorhabditis elegans)
Secernentea stl-1 35 33 34
  • 58.52 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G54100 33
  • 57.96 (n)
rice
(Oryza sativa)
Liliopsida Os08g0158500 33
  • 56.69 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05633 33
  • 60.82 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC16G5.07c 33
  • 56.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1681 34
  • 56 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8638 33
Species where no ortholog for STOML2 was found in the sources mined by GeneCards:
  • 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
rs1000472513 -- 35,101,773(+) AGCTG(C/G)GTGAC reference, synonymous-codon
rs1000712162 -- 35,102,070(+) AGAGC(A/G)CCCAT intron-variant
rs1001434604 -- 35,102,982(+) ATTTC(A/G)CTCTT intron-variant
rs1001445158 -- 35,103,767(+) GAGCA(C/T)GTCAC intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1002036528 -- 35,101,095(+) AAGGC(A/C)CATGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259
nsv1030303 CNV gain 25217958

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STOML2

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

Disorders for STOML2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
multiple myeloma
  • plasma cell neoplasm
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 of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2. (PMID: 17121834) Hájek P … Attardi G (The Journal of biological chemistry 2007) 2 3 4 22 60
  2. 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 JS (The Journal of biological chemistry 2000) 2 3 4 22 60
  3. Modulation of T cell activation by stomatin-like protein 2. (PMID: 18641330) Kirchhof MG … Madrenas J (Journal of immunology (Baltimore, Md. : 1950) 2008) 3 4 22 60
  4. Mass spectrometrical verification of stomatin-like protein 2 (SLP-2) primary structure. (PMID: 16671055) John JP … Lubec G (Proteins 2006) 3 4 22 60
  5. 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 CM … Hertzog PJ (Cytogenetics and cell genetics 2001) 3 4 22 60

Products for STOML2 Gene

Sources for STOML2 Gene

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