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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.

Additional gene information for SPINK8 Gene

No data available for Entrez Gene Summary , CIViC 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
GH03H048424 1.6 Ensembl ENCODE dbSUPER 10.3 -102.3 -102287 12 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TMA7 SHISA5 FBXW12 NME6 SPINK8 CDC25A RNU7-128P NDUFB1P1 TREX1 LAMB2
GH03H048464 1.4 ENCODE dbSUPER 9.4 -141.7 -141748 11 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 TMA7 ATRIP SHISA5 ENSG00000244380 CCDC51 PLXNB1 ENSG00000223343 COL7A1 PFKFB4 UCN2
GH03H048401 1.2 Ensembl ENCODE dbSUPER 10.5 -74.1 -74130 1 PAF1 JUN BHLHE40 USF2 MAX MNT FOSL1 JUND POLR2A FOS SHISA5 PLXNB1 FBXW12 CCDC51 TMA7 ATRIP NME6 ENSG00000244380 SPINK8 RN7SL321P
GH03H048400 1.1 ENCODE dbSUPER 10.5 -72.7 -72738 0 CTCF ZNF792 RB1 ZMYM3 RAD21 RFX5 TEAD3 ZNF121 CC2D1A GATA3 PLXNB1 FBXW12 TMA7 CCDC51 ATRIP NME6 SHISA5 ENSG00000244380 SPINK8 RN7SL321P
GH03H048221 1.1 Ensembl ENCODE 9.9 +105.3 105320 2 CTCF NFIB ZNF133 MAX CEBPG ZFHX2 ZNF766 CTBP1 POLR2A EED CDC25A RNU7-128P NDUFB1P1 NME6 SPINK8 ZNF589 PIR41492 CAMP
- 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

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

No data available for UniProtKB/Swiss-Prot for SPINK8 Gene

Function for SPINK8 Gene

Molecular function for SPINK8 Gene

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

Phenotypes From GWAS Catalog for SPINK8 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPINK8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPINK8 Gene

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

Drugs & Compounds for SPINK8 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPINK8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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

Evidence on tissue expression from TISSUES for SPINK8 Gene

  • Blood(4)
  • Lymph node(4)
  • Spleen(4)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia SPINK8 33 34
  • 78.52 (n)
cow
(Bos Taurus)
Mammalia LOC101904056 33
  • 77.9 (n)
SPINK8 34
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spink8 33
  • 73.88 (n)
mouse
(Mus musculus)
Mammalia Spink8 33 16 34
  • 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
rs1000086144 -- 48,318,574(+) GTCAG(C/T)GTCTG intron-variant
rs1000153344 -- 48,317,263(+) GCAGG(C/T)TGATC intron-variant, upstream-variant-2KB
rs1000196982 -- 48,311,703(+) ACTCA(A/C)AACTA intron-variant
rs1000429565 -- 48,314,394(+) AATTG(C/T)TGCTT intron-variant
rs1000476068 -- 48,330,465(+) AGTAA(A/G)CCGAG upstream-variant-2KB

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

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

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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Novel epididymal protease inhibitors with Kazal or WAP family domain. (PMID: 16930550) Jalkanen J … Poutanen M (Biochemical and biophysical research communications 2006) 2 3 60
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 60
  5. Evolutionary families of peptidase inhibitors. (PMID: 14705960) Rawlings ND … Barrett AJ (The Biochemical journal 2004) 3 60

Products for SPINK8 Gene

Sources for SPINK8 Gene

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