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Aliases for SPINK8 Gene

Aliases for SPINK8 Gene

  • Serine Peptidase Inhibitor, Kazal Type 8 (Putative) 2 3 5

External Ids for SPINK8 Gene

Previous GeneCards Identifiers for SPINK8 Gene

  • GC03M048324

Summaries for SPINK8 Gene

GeneCards Summary for SPINK8 Gene

SPINK8 (Serine Peptidase Inhibitor, Kazal Type 8 (Putative)) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for SPINK8 Gene

  • Probable serine protease inhibitor.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPINK8 Gene

Genomics for SPINK8 Gene

Regulatory Elements for SPINK8 Gene

Enhancers for SPINK8 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
GH03F048424 1.4 Ensembl ENCODE 10.3 -102.3 -102346 12.2 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 TMA7 SHISA5 FBXW12 NME6 SPINK8 RNU7-128P NDUFB1P1 CDC25A TREX1 LAMB2
GH03F048464 1.2 ENCODE 9.4 -141.7 -141748 11.4 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 TMA7 ATRIP SHISA5 ENSG00000223343 ENSG00000244380 CCDC51 PLXNB1 MIR711 COL7A1 PFKFB4
GH03F048239 1.1 ENCODE 9.7 +87.4 87418 2.8 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF589 LAMB2 CCDC71 QRICH1 CDC25A PLXNB1 NME6 IMPDH2 TMA7 CCDC51
GH03F048235 1.1 Ensembl ENCODE 9.7 +91.6 91640 1.8 ELF3 PKNOX1 ZNF133 FEZF1 THRB RARA SCRT2 THAP11 ZEB2 ZNF341 CDC25A FBXW12 NDUFB1P1 RNU7-128P PLXNB1 NME6 CCDC51 TMA7 ATRIP ENSG00000244380
GH03F048623 1.1 ENCODE 9.1 -296.0 -295972 1.6 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ZNF143 ZNF207 WDR6 ENSG00000223343 MIR711 COL7A1 PFKFB4 UCN2 NICN1 ENSG00000244380 ATRIP FBXW12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPINK8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPINK8 Gene

Chromosome:
3
Start:
48,306,842 bp from pter
End:
48,328,341 bp from pter
Size:
21,500 bases
Orientation:
Minus strand

Genomic View for SPINK8 Gene

Genes around SPINK8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINK8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPINK8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINK8 Gene

Proteins for SPINK8 Gene

  • Protein details for SPINK8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7L1-ISK8_HUMAN
    Recommended name:
    Serine protease inhibitor Kazal-type 8
    Protein Accession:
    P0C7L1

    Protein attributes for SPINK8 Gene

    Size:
    97 amino acids
    Molecular mass:
    10821 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPINK8 Gene

Post-translational modifications for SPINK8 Gene

Other Protein References for SPINK8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPINK8 Gene

Domains & Families for SPINK8 Gene

Gene Families for SPINK8 Gene

Protein Domains for SPINK8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPINK8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C7L1

UniProtKB/Swiss-Prot:

ISK8_HUMAN :
  • Contains 1 Kazal-like domain.
Domain:
  • Contains 1 Kazal-like domain.
genes like me logo Genes that share domains with SPINK8: view

Function for SPINK8 Gene

Molecular function for SPINK8 Gene

UniProtKB/Swiss-Prot Function:
Probable serine protease inhibitor.

Gene Ontology (GO) - Molecular Function for SPINK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SPINK8: view
genes like me logo Genes that share phenotypes with SPINK8: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPINK8 Gene

Localization for SPINK8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINK8 Gene

Secreted.

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 SPINK8 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for SPINK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IBA --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
genes like me logo Genes that share ontologies with SPINK8: view

Pathways & Interactions for SPINK8 Gene

SuperPathways for SPINK8 Gene

No Data Available

Interacting Proteins for SPINK8 Gene

Gene Ontology (GO) - Biological Process for SPINK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0060046 regulation of acrosome reaction IBA --
GO:1900004 negative regulation of serine-type endopeptidase activity IBA --
genes like me logo Genes that share ontologies with SPINK8: view

No data available for Pathways by source and SIGNOR curated interactions for SPINK8 Gene

Transcripts for SPINK8 Gene

mRNA/cDNA for SPINK8 Gene

(3) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPINK8 Gene

Serine peptidase inhibitor, Kazal type 8 (putative):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPINK8 Gene

No ASD Table

Relevant External Links for SPINK8 Gene

GeneLoc Exon Structure for
SPINK8
ECgene alternative splicing isoforms for
SPINK8

Expression for SPINK8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPINK8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPINK8 Gene

This gene is overexpressed in Whole Blood (x9.0), Esophagus - Mucosa (x6.5), and Brain - Spinal cord (cervical c-1) (x4.7).

NURSA nuclear receptor signaling pathways regulating expression of SPINK8 Gene:

SPINK8

SOURCE GeneReport for Unigene cluster for SPINK8 Gene:

Hs.257687
genes like me logo Genes that share expression patterns with SPINK8: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SPINK8 Gene

Orthologs for SPINK8 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPINK8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINK8 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia SPINK8 34 35
  • 78.52 (n)
cow
(Bos Taurus)
Mammalia LOC101904056 34
  • 77.9 (n)
SPINK8 35
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spink8 34
  • 73.88 (n)
mouse
(Mus musculus)
Mammalia Spink8 34 16 35
  • 70.1 (n)
Species where no ortholog for SPINK8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SPINK8 Gene

ENSEMBL:
Gene Tree for SPINK8 (if available)
TreeFam:
Gene Tree for SPINK8 (if available)

Paralogs for SPINK8 Gene

(2) SIMAP similar genes for SPINK8 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SPINK8: view

No data available for Paralogs for SPINK8 Gene

Variants for SPINK8 Gene

Sequence variations from dbSNP and Humsavar for SPINK8 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs11130164 -- 48,327,544(+) CTGAT(A/G)CCAAT intron-variant
rs1114321 -- 48,316,496(+) ggcac(A/G)gtggc intron-variant, upstream-variant-2KB
rs111549036 -- 48,330,195(+) ATATA(C/T)TTTTA upstream-variant-2KB, utr-variant-5-prime
rs111793188 -- 48,323,255(+) TTTTC(A/G)TGACT intron-variant
rs112073313 -- 48,332,199(+) AGGCC(A/G)TGACT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SPINK8 Gene

Variant ID Type Subtype PubMed ID
nsv834683 CNV gain 17160897
esv3596104 CNV loss 21293372
esv2661878 CNV deletion 23128226

Variation tolerance for SPINK8 Gene

Residual Variation Intolerance Score: 73.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.06; 75.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPINK8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPINK8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINK8 Gene

Disorders for SPINK8 Gene

Relevant External Links for SPINK8

Genetic Association Database (GAD)
SPINK8
Human Genome Epidemiology (HuGE) Navigator
SPINK8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPINK8

No disorders were found for SPINK8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPINK8 Gene

Publications for SPINK8 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Novel epididymal protease inhibitors with Kazal or WAP family domain. (PMID: 16930550) Jalkanen J. … Poutanen M. (Biochem. Biophys. Res. Commun. 2006) 2 3 64
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for SPINK8 Gene

Sources for SPINK8 Gene

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