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SPINK7 (serine peptidase inhibitor, Kazal type 7 (putative))

Written2007-04Xiying Yu, Shih-Hsin Lu
Department of Etiology, Carcinogenesis, Cancer Institute Peking Union, Medical College, Chinese Academy of Medical Sciences Beijing 100021

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)ECG2
ECRG2
Other aliasMGC133105
MGC133106
HGNC (Hugo) SPINK7
LocusID (NCBI) 84651
Atlas_Id 40396
Location 5q32  [Link to chromosome band 5q32]
Location_base_pair Starts at 148312427 and ends at 148315918 bp from pter ( according to hg19-Feb_2009)  [Mapping SPINK7.png]
Local_order telomeric to SPINK5L3 and centromeric to SPINK1

DNA/RNA

 
  Diagram of ECRG2 gene. Exons are represented by red boxes. Exons 1 to 4 from 5' to 3' direction.
Description The ECRG2 gene contains 4 exons and spans about 3540 bp.
Transcription The full-length of cDNA of ECRG2 gene was revealed 569 bp, the open reading frame (ORF) is 258 bp. The sequence upstream of the exon-1 upon the NT_2023158.1 genomic sequence revealed a typical TATA box contained promotor at 44 bp from the predicted translation start site. The transcription start site is just 6 bp upstream of the 5' end sequence.
Pseudogene None

Protein

Note The N-terminal 1-19 is the single peptide of the protein. The C-terminal 30-85 of the protein contains a typical x(8)-C-x(6)-C-x(7)-C-x(6)-Y-x(3)-C-x(2,3)-C-x(17)-C conserve region, coding a Kazal type serine protease inhibitors (Kazal) domain.
 
Description The molecular weight of the encoding protein contained 85 amino acids is about 9.23 kDa. ECRG2 gene contains a typical Kazal serine protease inhibitors conserved domain about 56 amino acids at its C-terminal and three kinase phosphorlation site (protein kinase C, Casein kinase II and Tyrosine kinase).
Expression ECRG2 gene was expressed in normal tissues, such as esophagus, liver, colon and lung. But it was less expressed in the cancerous tissues, especially low frequency of expression of ECRG2 gene in esophageal cancer but was less expressed in the cancerous tissues, especially low frequency of expression of ECRG2 gene in esophageal cancer.
Localisation The protein was localized on the cell membrane.
Function The expression of ECRG2 can inhibit the migratory ability of high metastasic tumor cells.
Homology The sequence of the ECRG2 gene did not reveal remarkable similarity to the known sequence in the homology analysis with the public database of GenBank while the deduced amino acid sequence showed 97% homology to a tumor associated KAZAL-type serine protease inhibitor peptide (US patent 5851987).

Mutations

Note None

Implicated in

Note
  
Entity Esophageal cancer
Note Expression profile of ECRG2 gene in 7 normal esophageal epithelia, 51 esophageal cancer and 33 tumor adjacent tissues were 100%, 21% and 52% respectively. About 79% of ECRG2 gene was no expressed in the esophageal cancer. ECRG2 was highly expressed in the adult normal esophageal tissue, low expressed in the fetal esophageal tissue and completely loss of expression in the esophageal cancer and corresponding adjacent tissues. The results show that the ECRG2 gene may be a specific gene for carcinogenesis of esophagus.
The studies provide more evidences on the role of ECRG2 in the inhibition of tumor cell proliferation, migration and metastasis, and give a straightforward way to block enzymatic activity in extra-cellular matrix to achieve the therapeutic benefit in the tested human cancers.
1. Short tandem repeat polymorphism in a novel esophageal cancer-related gene (ECRG2) implicates susceptibility to esophageal cancer
2. Potential interaction partner for ECRG2 might be involved in regulation of cell proliferation and apoptosis and in various physiological processes.
3. Data suggest that the physical interaction of esophageal cancer related gene 2 (ECRG2) and metallothionein2A (MT2A) may play an important role in the carcinogenesis of esophageal cancer.
  

Bibliography

ECRG2, a novel candidate of tumor suppressor gene in the esophageal carcinoma, interacts directly with metallothionein 2A and links to apoptosis.
Cui Y, Wang J, Zhang X, Lang R, Bi M, Guo L, Lu SH
Biochemical and biophysical research communications. 2003 ; 302 (4) : 904-915.
PMID 12646258
 
Using yeast two-hybrid system to identify ECRG2 associated proteins and their possible interactions with ECRG2 gene.
Cui YP, Wang JB, Zhang XY, Bi MX, Guo LP, Lu SH
World journal of gastroenterology : WJG. 2003 ; 9 (9) : 1892-1896.
PMID 12970870
 
Monoclonal antibodies to esophageal cancer-related gene2 protein.
Huang G, Wang D, Guo L, Zhao N, Li Y, Lu SH
Hybridoma (2005). 2005 ; 24 (2) : 86-91.
PMID 15857172
 
Short tandem repeat polymorphisms of exon 4 in Kazal-type gene ECRG2 in pancreatic carcinoma and chronic pancreatitis.
Kaifi JT, Cataldegirmen G, Wachowiak R, Schurr PG, Kleinhans H, Kosti G, Yekebas EF, Mann O, Kutup A, Kalinin V, Strate T, Izbicki JR
Anticancer research. 2007 ; 27 (1A) : 69-73.
PMID 17352218
 
[Inhibitory effects of esophageal cancer related gene 2 on proliferation of human esophageal cancer cell EC9706]
Li MN, Huang G, Guo LP, Lu SH
Zhonghua yi xue za zhi. 2005 ; 85 (39) : 2785-2788.
PMID 16324322
 
[Cloning and identification of cDNA fragments related to human esophageal cancer]
Su T, Liu H, Lu S
Zhonghua zhong liu za zhi [Chinese journal of oncology]. 1998 ; 20 (4) : 254-257.
PMID 10920976
 
Short tandem repeat polymorphism in a novel esophageal cancer-related gene (ECRG2) implicates susceptibility to esophageal cancer in Chinese population.
Yue CM, Bi MX, Tan W, Deng DJ, Zhang XY, Guo LP, Lin DX, Lu SH
International journal of cancer. Journal international du cancer. 2004 ; 108 (2) : 232-236.
PMID 14639608
 

Citation

This paper should be referenced as such :
Yu, Xiying ; Lu, Shih-Hsin
SPINK7 (serine peptidase inhibitor, Kazal type 7 (putative))
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):283-284.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SPINK7ID40396ch5q33.html


External links

Nomenclature
HGNC (Hugo)SPINK7   24643
Cards
AtlasSPINK7ID40396ch5q33
Entrez_Gene (NCBI)SPINK7  84651  serine peptidase inhibitor, Kazal type 7 (putative)
AliasesECG2; ECRG2
GeneCards (Weizmann)SPINK7
Ensembl hg19 (Hinxton)ENSG00000145879 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145879 [Gene_View]  chr5:148312427-148315918 [Contig_View]  SPINK7 [Vega]
ICGC DataPortalENSG00000145879
TCGA cBioPortalSPINK7
AceView (NCBI)SPINK7
Genatlas (Paris)SPINK7
WikiGenes84651
SOURCE (Princeton)SPINK7
Genetics Home Reference (NIH)SPINK7
Genomic and cartography
GoldenPath hg38 (UCSC)SPINK7  -     chr5:148312427-148315918 +  5q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPINK7  -     5q32   [Description]    (hg19-Feb_2009)
EnsemblSPINK7 - 5q32 [CytoView hg19]  SPINK7 - 5q32 [CytoView hg38]
Mapping of homologs : NCBISPINK7 [Mapview hg19]  SPINK7 [Mapview hg38]
OMIM617288   
Gene and transcription
Genbank (Entrez)AF268198 AK311570 AY359072 BC109385 BC110067
RefSeq transcript (Entrez)NM_032566
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPINK7
Cluster EST : UnigeneHs.244569 [ NCBI ]
CGAP (NCI)Hs.244569
Alternative Splicing GalleryENSG00000145879
Gene ExpressionSPINK7 [ NCBI-GEO ]   SPINK7 [ EBI - ARRAY_EXPRESS ]   SPINK7 [ SEEK ]   SPINK7 [ MEM ]
Gene Expression Viewer (FireBrowse)SPINK7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84651
GTEX Portal (Tissue expression)SPINK7
Protein : pattern, domain, 3D structure
UniProt/SwissProtP58062   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP58062  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP58062
Splice isoforms : SwissVarP58062
PhosPhoSitePlusP58062
Domaine pattern : Prosite (Expaxy)KAZAL_1 (PS00282)    KAZAL_2 (PS51465)   
Domains : Interpro (EBI)Kazal_dom   
Domain families : Pfam (Sanger)Kazal_1 (PF00050)   
Domain families : Pfam (NCBI)pfam00050   
Domain families : Smart (EMBL)KAZAL (SM00280)  
Conserved Domain (NCBI)SPINK7
DMDM Disease mutations84651
Blocks (Seattle)SPINK7
PDB (SRS)2LEO   
PDB (PDBSum)2LEO   
PDB (IMB)2LEO   
PDB (RSDB)2LEO   
Structural Biology KnowledgeBase2LEO   
SCOP (Structural Classification of Proteins)2LEO   
CATH (Classification of proteins structures)2LEO   
SuperfamilyP58062
Human Protein AtlasENSG00000145879
Peptide AtlasP58062
HPRD16850
IPIIPI00010630   IPI00975677   
Protein Interaction databases
DIP (DOE-UCLA)P58062
IntAct (EBI)P58062
FunCoupENSG00000145879
BioGRIDSPINK7
STRING (EMBL)SPINK7
ZODIACSPINK7
Ontologies - Pathways
QuickGOP58062
Ontology : AmiGOacrosomal vesicle  serine-type endopeptidase inhibitor activity  protein binding  extracellular space  regulation of acrosome reaction  negative regulation of serine-type endopeptidase activity  
Ontology : EGO-EBIacrosomal vesicle  serine-type endopeptidase inhibitor activity  protein binding  extracellular space  regulation of acrosome reaction  negative regulation of serine-type endopeptidase activity  
NDEx NetworkSPINK7
Atlas of Cancer Signalling NetworkSPINK7
Wikipedia pathwaysSPINK7
Orthology - Evolution
OrthoDB84651
GeneTree (enSembl)ENSG00000145879
Phylogenetic Trees/Animal Genes : TreeFamSPINK7
HOVERGENP58062
HOGENOMP58062
Homologs : HomoloGeneSPINK7
Homology/Alignments : Family Browser (UCSC)SPINK7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPINK7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPINK7
dbVarSPINK7
ClinVarSPINK7
1000_GenomesSPINK7 
Exome Variant ServerSPINK7
ExAC (Exome Aggregation Consortium)SPINK7 (select the gene name)
Genetic variants : HAPMAP84651
Genomic Variants (DGV)SPINK7 [DGVbeta]
DECIPHERSPINK7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPINK7 
Mutations
ICGC Data PortalSPINK7 
TCGA Data PortalSPINK7 
Broad Tumor PortalSPINK7
OASIS PortalSPINK7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPINK7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPINK7
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPINK7
DgiDB (Drug Gene Interaction Database)SPINK7
DoCM (Curated mutations)SPINK7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPINK7 (select a term)
intoGenSPINK7
NCG5 (London)SPINK7
Cancer3DSPINK7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617288   
Orphanet
MedgenSPINK7
Genetic Testing Registry SPINK7
NextProtP58062 [Medical]
TSGene84651
GENETestsSPINK7
Target ValidationSPINK7
Huge Navigator SPINK7 [HugePedia]
snp3D : Map Gene to Disease84651
BioCentury BCIQSPINK7
ClinGenSPINK7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84651
Chemical/Pharm GKB GenePA143485620
Clinical trialSPINK7
Miscellaneous
canSAR (ICR)SPINK7 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPINK7
EVEXSPINK7
GoPubMedSPINK7
iHOPSPINK7
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:37:38 CEST 2017

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