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STOML2 (stomatin (EPB72)-like 2)

Identity

Other namesHSPC108
SLP-2
HGNC (Hugo) STOML2
LocusID (NCBI) 30968
Location 9p13.3
Location_base_pair Starts at 35099773 and ends at 35103192 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

 
Description The gene encoding SLP-2 was 3250 bp long and consisted of ten exons interrupted by nine introns.
Transcription There are 5 transcripts in this gene. However, a single 1.3 kb mRNA transcript encoding SLP-2 was ubiquitously expressed, and the translation length is 356 residues (Owczarek et al., 2001).
Pseudogene No known pseudogenes.

Protein

 
  Figure A. ALA-RICH, Alanine-rich region profile: 224-274: score = 8.657.
Figure B. MYRISTYL, N-myristoylation site: 16-21: GSllAS, 31-36: GLprNT, 209-214: GTreSA, 314-319: GVvgAL, 326-331: GTpdSL, 341-346: GtdaSL; PKC-PHOSPHO-SITE, Protein kinase C phosphorylation site: 21-23: SgR, 78-80: SlK, 133-135: TmR, 335-337: SsR; CAMP-PHOSPHO-SITE, Camp-and-cGMP-dependent protein kinase phosphorylation site: 26-29: RRaS, 200-203: KRaT; CK2-PHOSPHO-SITE, Casein kinase II phosphorylation site: 78-81: SlkE, 156-159: SivD, 203-206: TvlE, 229-232: SeaE, 277-280: TvaE, 335-338: SsrD, 345-348: SldE; ASN-GLYCOSYLATION, N-glycosylation site: 96-99: NVTL, 154-157: NASI; AMIDATION, amidation site: 219-222: eGKK.
Description NP_038470; 356 aa.
Human SLP-2 is presented on chromosome 9p13. The sequence at the 5'-end of the mRNA is interesting for the presence of three potential ATG initiator sites, all sharing the same open reading frame however, commonly forms a 356 amino acid residue polypeptide with a predicted molecular weight of 38.5 kDa. Similar to other family members, SLP-2 as well as the stomatin from other species shares a characteristic NH2-terminal hydrophobic domain as well as a consensus cognate stomatin signature sequence that defines the stomatin gene family, however, it lacks the NH2-terminal hydrophobic domain (Wang et al., 2000). The SLP-2 protein contains an alanine-rich domain and a number of potential protein kinase C phosphorylation sites, cAMP-and-cGMP-dependent protein kinase phosphorylation sites and casein kinase II phosphorylation sites.
Expression SLP-2 is widely expressed in many tissues and thought as a new component of the peripheral membrane skeleton. Especially, in the erythrocyte membrane, it also appears to exist at least partially as an oligomeric protein complex. The overexpression of SLP-2 can be found in many kinds of human tumors, such as esophageal squamous cell carcinoma, laryngeal squamous cell carcinoma, endometrial adenocarcinoma, and lung cancer.
Localisation Predominantly on plasma membrane and in the cytoplasm.
Function Human SLP-2 protein with unknown function, we hypothesize that SLP-2 may link stomatin or other integral membrane proteins to the peripheral cytoskeleton and thereby play a role in regulating ion channel conductances or the organization of sphingolipid and cholesterol-rich lipid rafts. Some recent results indicated that SLP-2 protein can significantly influence on multi-tumor progression, which allowed us to identify this unwell-known gene that maybe modulate invasion and metastasis of different cancers.
Homology SLP-2 is one of the members of the Stomatin superfamily, among which identified vertebrate homologues are SLP-1, SLP-2, and SLP-3. SLP-1 is most abundant in brain and shares many similarities with UNC-24 (STOML1). SLP-3 is specifically expressed in olfactory sensory neurons (Seidel et al., 1998; Goldstein et al., 2003).

Mutations

Note No mutations have been reported for SLP-2. Mutation detection of SLP-2 exons was done using PCR and automated sequencing with 30 patient-matched human esophageal cancer tissues. No mutation was found within the open-reading frame of SLP-2 after sequencing results were aligned by the procedure SeqMan of DNAStar software (Zhang et al., 2006).

Implicated in

Entity Various cancers
Note SLP-2 has been shown to be over-expressed in a number of different cancers, including esophageal squamous cell carcinoma (ESCC), laryngeal squamous cell carcinoma (LSCC), endometrial adenocarcinoma (EAC), lung cancer (LC) and breast cancer (see below).
  
Entity Esophageal squamous cell carcinoma (ESCC)
Prognosis As shown in human ESCC, a significant correlation exists between SLP-2 protein high expression and the depth of ESCC invasion (P=0.033) (Wang et al., 2009). Also, decreased cell growth and tumorigenesis in the antisense transfectants revealed that SLP-2 may be important in ESCC tumorigenesis (Zhang et al., 2006).
  
Entity Laryngeal squamous cell carcinoma (LSCC)
Prognosis In addition, SLP-2 takes part in human LSCC malignant phenotype formation and development. High-level expression of SLP-2 protein could contribute to the prognostic characteristics of lymph node metastasis in human LSCC (Cao et al., 2007).
  
Entity Breast cancer
Prognosis High-level expression of SLP-2 protein shows a worse prognosis, including increase in tumor size, progress in clinical stage, and appearance of lymph node and/or distant metastasis and is associated with decreased overall survival (P=0.011). Moreover, SLP-2 can be strongly associated with another important prognostic factor, HER-2/neu protein expression, which shows that they may act as dependent prognostic factors to indicate poor prognosis (Cao et al., 2007).
  
Entity Endometrial adenocarcinoma
Prognosis Similarly, SLP-2 is also overexpressed in human endometrial adenocarcinoma (EAC) at both mRNA and protein level. Sense transfection of SLP-2 in EAC cell line accelerated cell growth whereas the antisense transfection reduced cell growth in vitro (Cui et al., 2007).
  
Entity Lung cancer
Prognosis At last, SLP-2 was overexpressed in human lung cancer (Zhang et al., 2006). High-level SLP-2 expression was significantly correlated with distant metastasis, decreased overall survival and disease-free survival. SLP-2 overexpression was an independent prognostic factor in multivariate analysis using the Cox regression model (p<0.05) (Chang et al., 2009).
  
Entity Mitochondrial component
Note SLP-2 localizes in mitochondria, affects mitochondrial membrane potential (MMP) and ATP production. Hence, SLP-2 is a mitochondrial protein and therefore, functions in energy process by MMP maintenance, and subsequently affecting cell motility, proliferation and chemosensitivity (Wang et al., 2009).
  

External links

Nomenclature
HGNC (Hugo)STOML2   14559
Cards
AtlasSTOML2ID44346ch9p13
Entrez_Gene (NCBI)STOML2  30968  stomatin (EPB72)-like 2
GeneCards (Weizmann)STOML2
Ensembl (Hinxton)ENSG00000165283 [Gene_View]  chr9:35099773-35103192 [Contig_View]  STOML2 [Vega]
ICGC DataPortalENSG00000165283
cBioPortalSTOML2
AceView (NCBI)STOML2
Genatlas (Paris)STOML2
WikiGenes30968
SOURCE (Princeton)NM_001287031 NM_001287032 NM_001287033 NM_013442
Genomic and cartography
GoldenPath (UCSC)STOML2  -  9p13.3   chr9:35099773-35103192 -  9p13.1   [Description]    (hg19-Feb_2009)
EnsemblSTOML2 - 9p13.1 [CytoView]
Mapping of homologs : NCBISTOML2 [Mapview]
OMIM608292   
Gene and transcription
Genbank (Entrez)AA657517 AF161458 AF190167 AF282596 AK027405
RefSeq transcript (Entrez)NM_001287031 NM_001287032 NM_001287033 NM_013442
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NT_008413 NW_001839149 NW_004929342
Consensus coding sequences : CCDS (NCBI)STOML2
Cluster EST : UnigeneHs.3439 [ NCBI ]
CGAP (NCI)Hs.3439
Alternative Splicing : Fast-db (Paris)GSHG0030783
Alternative Splicing GalleryENSG00000165283
Gene ExpressionSTOML2 [ NCBI-GEO ]     STOML2 [ SEEK ]   STOML2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UJZ1 (Uniprot)
NextProtQ9UJZ1  [Medical]
With graphics : InterProQ9UJZ1
Splice isoforms : SwissVarQ9UJZ1 (Swissvar)
Domains : Interpro (EBI)Band_7 [organisation]   QmcA-like [organisation]   Stomatin_fam [organisation]  
Related proteins : CluSTrQ9UJZ1
Domain families : Pfam (Sanger)Band_7 (PF01145)   
Domain families : Pfam (NCBI)pfam01145   
Domain families : Smart (EMBL)PHB (SM00244)  
DMDM Disease mutations30968
Blocks (Seattle)Q9UJZ1
Human Protein AtlasENSG00000165283 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9UJZ1
HPRD16310
IPIIPI00334190   IPI00908723   IPI00442543   
Protein Interaction databases
DIP (DOE-UCLA)Q9UJZ1
IntAct (EBI)Q9UJZ1
FunCoupENSG00000165283
BioGRIDSTOML2
InParanoidQ9UJZ1
Interologous Interaction database Q9UJZ1
IntegromeDBSTOML2
STRING (EMBL)STOML2
Ontologies - Pathways
Ontology : AmiGOimmunological synapse  receptor binding  protein binding  mitochondrial inner membrane  mitochondrial intermembrane space  cytoskeleton  mitochondrial calcium ion transport  cellular calcium ion homeostasis  mitochondrion organization  COP9 signalosome  lipid localization  positive regulation of mitochondrial membrane potential  actin cytoskeleton  extrinsic component of plasma membrane  interleukin-2 production  mitochondrial protein processing  CD4-positive, alpha-beta T cell activation  T cell receptor complex  mitochondrial ATP synthesis coupled proton transport  membrane raft  T cell receptor signaling pathway  protein oligomerization  positive regulation of mitochondrial DNA replication  positive regulation of cardiolipin metabolic process  cardiolipin binding  stress-induced mitochondrial fusion  
Ontology : EGO-EBIimmunological synapse  receptor binding  protein binding  mitochondrial inner membrane  mitochondrial intermembrane space  cytoskeleton  mitochondrial calcium ion transport  cellular calcium ion homeostasis  mitochondrion organization  COP9 signalosome  lipid localization  positive regulation of mitochondrial membrane potential  actin cytoskeleton  extrinsic component of plasma membrane  interleukin-2 production  mitochondrial protein processing  CD4-positive, alpha-beta T cell activation  T cell receptor complex  mitochondrial ATP synthesis coupled proton transport  membrane raft  T cell receptor signaling pathway  protein oligomerization  positive regulation of mitochondrial DNA replication  positive regulation of cardiolipin metabolic process  cardiolipin binding  stress-induced mitochondrial fusion  
Protein Interaction DatabaseSTOML2
Wikipedia pathwaysSTOML2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)STOML2
snp3D : Map Gene to Disease30968
SNP (GeneSNP Utah)STOML2
SNP : HGBaseSTOML2
Genetic variants : HAPMAPSTOML2
Exome VariantSTOML2
1000_GenomesSTOML2 
ICGC programENSG00000165283 
Somatic Mutations in Cancer : COSMICSTOML2 
CONAN: Copy Number AnalysisSTOML2 
Mutations and Diseases : HGMDSTOML2
Genomic VariantsSTOML2  STOML2 [DGVbeta]
dbVarSTOML2
ClinVarSTOML2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM608292   
MedgenSTOML2
GENETestsSTOML2
Disease Genetic AssociationSTOML2
Huge Navigator STOML2 [HugePedia]  STOML2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSTOML2
Homology/Alignments : Family Browser (UCSC)STOML2
Phylogenetic Trees/Animal Genes : TreeFamSTOML2
Chemical/Protein Interactions : CTD30968
Chemical/Pharm GKB GenePA37897
Clinical trialSTOML2
Cancer Resource (Charite)ENSG00000165283
Other databases
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
CoreMineSTOML2
iHOPSTOML2
OncoSearchSTOML2

Bibliography

Molecular cloning of hSLP-1, a novel human brain-specific member of the band 7/MEC-2 family similar to Caenorhabditis elegans UNC-24.
Seidel G, Prohaska R.
Gene. 1998 Dec 28;225(1-2):23-9.
PMID 9931417
 
Identification and characterization of human SLP-2, a novel homologue of stomatin (band 7.2b) present in erythrocytes and other tissues.
Wang Y, Morrow JS.
J Biol Chem. 2000 Mar 17;275(11):8062-71.
PMID 10713127
 
A novel member of the STOMATIN/EPB72/mec-2 family, stomatin-like 2 (STOML2), is ubiquitously expressed and localizes to HSA chromosome 9p13.1.
Owczarek CM, Treutlein HR, Portbury KJ, Gulluyan LM, Kola I, Hertzog PJ.
Cytogenet Cell Genet. 2001;92(3-4):196-203.
PMID 11435687
 
Cloning and characterization of SLP3: a novel member of the stomatin family expressed by olfactory receptor neurons.
Goldstein BJ, Kulaga HM, Reed RR.
J Assoc Res Otolaryngol. 2003 Mar;4(1):74-82. Epub 2002 Sep 23.
PMID 12239636
 
Stomatin-like protein 2 is overexpressed in cancer and involved in regulating cell growth and cell adhesion in human esophageal squamous cell carcinoma.
Zhang L, Ding F, Cao W, Liu Z, Liu W, Yu Z, Wu Y, Li W, Li Y, Liu Z.
Clin Cancer Res. 2006 Mar 1;12(5):1639-46.
PMID 16533792
 
High-level SLP-2 expression and HER-2/neu protein expression are associated with decreased breast cancer patient survival.
Cao W, Zhang B, Liu Y, Li H, Zhang S, Fu L, Niu Y, Ning L, Cao X, Liu Z, Sun B.
Am J Clin Pathol. 2007 Sep;128(3):430-6.
PMID 17709317
 
Prognostic significance of stomatin-like protein 2 overexpression in laryngeal squamous cell carcinoma: clinical, histologic, and immunohistochemistry analyses with tissue microarray.
Cao WF, Zhang LY, Liu MB, Tang PZ, Liu ZH, Sun BC.
Hum Pathol. 2007 May;38(5):747-52. Epub 2007 Feb 15.
PMID 17306333
 
Stomatin-like protein 2 is overexpressed and related to cell growth in human endometrial adenocarcinoma.
Cui Z, Zhang L, Hua Z, Cao W, Feng W, Liu Z.
Oncol Rep. 2007 Apr;17(4):829-33.
PMID 17342323
 
Downregulation of a mitochondria associated protein SLP-2 inhibits tumor cell motility, proliferation and enhances cell sensitivity to chemotherapeutic reagents.
Wang Y, Cao W, Yu Z, Liu Z.
Cancer Biol Ther. 2009 Sep;8(17):1651-8. Epub 2009 Sep 17.
PMID 19597348
 
SLP-2 overexpression is associated with tumour distant metastasis and poor prognosis in pulmonary squamous cell carcinoma.
Chang D, Ma K, Gong M, Cui Y, Liu ZH, Zhou XG, Zhou CN, Wang TY.
Biomarkers. 2010 Mar;15(2):104-10.
PMID 19839737
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written02-2010Wenfeng Cao, Liyong Zhang, Fang Ding, Zhumei Cui, Zhihua Liu
State Key Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China (WC, LZ, DF, ZL); Department of Pathology, Tianjin Medical University Cancer Institute and Hospital, Key Laboratory of Cancer Prevention and Therapy, Tianjin 300060, China (WC); Department of Obstetrics and Gynecology, Affiliated Hospital of Medical College, Qingdao University, Qingdao 266011, China (ZC)

Citation

This paper should be referenced as such :
Cao, W ; Zhang, L ; Ding, F ; Cui, Z ; Liu, Z
STOML2 (stomatin (EPB72)-like 2)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(12):-.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/STOML2ID44346ch9p13.html

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indexed on : Fri Aug 8 11:04:16 CEST 2014

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