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

Identity

Other namesECRG2
ECG2
MGC133105
MGC133106
HGNC (Hugo) SPINK7
Location 5q33.1
Location_base_pair Starts at 147672183 and ends at 147675674 bp from pter ( according to hg18-Mar_2006)  [Mapping]
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

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.
  

External links

Nomenclature
HGNC (Hugo)SPINK7   24643
Entrez_Gene (NCBI)SPINK7  84651  serine peptidase inhibitor, Kazal type 7 (putative)
Cards
AtlasSPINK7ID40396ch5q33
GeneCards (Weizmann)SPINK7
Ensembl (Hinxton)ENSG00000145879 [Gene_View]  SPINK7 [Vega]
AceView (NCBI)SPINK7
Genatlas (Paris)SPINK7
euGene (Indiana)84651
SOURCE (Stanford)NM_032566
Gene Expression (Array Express) ENSG00000145879
Genomic and cartography
GoldenPath (UCSC)SPINK7  -  5q33.1   chr5:147672183-147675674 +  5q32   [Description]    (hg18-Mar_2006)
EnsemblSPINK7 - 5q32 [CytoView]
Mapping of homologs : NCBISPINK7 [Mapview]
OMIM
Gene and transcription
Gene : Genbank (Entrez)AF268198 AY359072 BC109385 BC110067
Reference sequence (RefSeq transcript) :SRSNM_032566
Reference transcript : EntrezNM_032566
RefSeq genomic : SRSAC_000048 AC_000137 NC_000005 NT_029289 NW_001838953 NW_922784
RefSeq genomic : EntrezAC_000048 AC_000137 NC_000005 NT_029289 NW_001838953 NW_922784
Consensus coding sequences : CCDS NCBISPINK7
Cluster EST : UnigeneHs.244569 [ SRS ] Hs.244569 [ NCBI ]
Alternative Splicing : Fast-db (Paris)11768
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP58062 (SRS) P58062 (Expasy) P58062 (Uniprot)
With graphics : InterProP58062
Splice isoforms : VarSplice FASTAP58062(VarSplice FASTA)
Domaine pattern : Prosite (SRS)KAZAL_1 (PS00282)    KAZAL_2 (PS51465)   
Domain pattern : Prosite (Expaxy)KAZAL_1 (PS00282)    KAZAL_2 (PS51465)   
Domains : Interpro (SRS)Prot_inh_Kazal   
Domains : Interpro (EBI)Prot_inh_Kazal   
Related proteins : CluSTrP58062
Domain families : Pfam SRSKazal_1 (PF00050)   
Domain families : Pfam SangerKazal_1 (PF00050)   
Domain families : Pfam NCBIpfam00050   
Domain families : Smart EMBLKAZAL (SM00280)  
Blocks (Seattle)P58062
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD16850
Protein Interaction databases
DIP (DOE-UCLA)P58062
IntAct (EBI)P58062
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBISPINK7
SNP : GeneSNP UtahSPINK7
SNP : HGBaseSPINK7
Genetic variants : HAPMAPSPINK7
Somatic Mutations in Cancer : COSMICSPINK7 
Mutations and Diseases : HGMDSPINK7
Hereditary diseases : OMIM
Hereditary diseases : GENETests
Diseases : Genetic AssociationSPINK7
General knowledge
Homologs : HomoloGeneSPINK7
Homology/Alignments : Family Browser UCSCSPINK7
Phylogenetic Trees/Animal Genes : TreeFamSPINK7
Chemical/Protein Interactions : CTD84651
Keywords Ontology : AmiGOserine-type endopeptidase inhibitor activity  protein binding  extracellular region  peptidase inhibitor activity  
Keywords Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  protein binding  extracellular region  peptidase inhibitor activity  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesSPINK7 Related clones (RZPD - Berlin)
Literature
PubMed14 Pubmed reference(s) in Entrez
PubGeneSPINK7

Bibliography

[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
 
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
 
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
 
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
 
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
 
[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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written04-2007Xiying Yu, Shih-Hsin Lu
Department of Etiology and Carcinogenesis, Cancer Institute Peking Union, Medical College and Chinese Academy of Medical Sciences Beijing 100021

Citation

This paper should be referenced as such :
Yu X, Lu SH . SPINK7 (serine peptidase inhibitor, Kazal type 7 (putative)). Atlas Genet Cytogenet Oncol Haematol. April 2007 .
URL : http://AtlasGeneticsOncology.org/Genes/SPINK7ID40396ch5q33.html

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indexed on : Sat Feb 27 10:53:22 CET 2010

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