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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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for SPINK8 Gene

Promoters and enhancers for SPINK8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I048328 Promoter 0.5 EPDnew 550.8 -0.1 -100 0.1 SPINK8 FBXW12
GH03I048424 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.3 -102.3 -102286 12.1 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 LOC105377077 PLXNB1 TMA7 SHISA5 FBXW12 NME6 SPINK8 CDC25A RNU7-128P NDUFB1P1
GH03I048464 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.4 -141.7 -141748 11.4 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SHISA5 TREX1 TMA7 ATRIP NME6 QRICH1 USP19 MRPS18AP1 TMEM89 RHOA-IT1
GH03I048239 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.7 +87.4 87417 2.8 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF589 GC03M048234 QRICH1 NME6 CCDC71 ATRIP PTPN23 USP19 MRPS18AP1 TMEM89
GH03I048221 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 9.9 +105.3 105320 2.4 NFIB ZNF133 ZNF766 SCRT2 IKZF2 RUNX3 THAP11 CEBPB ELF1 NFIC CAMP CDC25A RNU7-128P NDUFB1P1 NME6 SPINK8 ZNF589 PIR41492
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPINK8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPINK8 gene promoter:

Genomic Locations for SPINK8 Gene

Genomic Locations for SPINK8 Gene
chr3:48,306,842-48,328,341
(GRCh38/hg38)
Size:
21,500 bases
Orientation:
Minus strand
chr3:48,348,336-48,369,831
(GRCh37/hg19)

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

Clone 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

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:

Clone 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 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

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 16 34 33
  • 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 Variation AA Info Type
rs1000086144 -- 48,318,574(-) C/T intron_variant
rs1000153344 -- 48,317,263(-) C/T intron_variant
rs1000196982 -- 48,311,703(-) A/C intron_variant
rs1000429565 -- 48,314,394(-) C/T intron_variant
rs1000476068 -- 48,330,465(-) G/A upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for SPINK8

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

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 44 58
  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 58
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4 58
  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 58
  5. Evolutionary families of peptidase inhibitors. (PMID: 14705960) Rawlings ND … Barrett AJ (The Biochemical journal 2004) 3 58

Products for SPINK8 Gene

Sources for SPINK8 Gene

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