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Aliases for SPINK4 Gene

Aliases for SPINK4 Gene

  • Serine Peptidase Inhibitor, Kazal Type 4 2 3 5
  • Peptide PEC-60 Homolog 3 4
  • Serine Protease Inhibitor, Kazal Type 4 2
  • Serine Protease Inhibitor Kazal-Type 4 3
  • Epididymis Luminal Protein 136 3
  • Gastrointestinal Peptide 3
  • HEL136 3
  • PEC-60 3
  • PEC60 3

External Ids for SPINK4 Gene

Previous GeneCards Identifiers for SPINK4 Gene

  • GC09P033552
  • GC09P033409
  • GC09P033208

Summaries for SPINK4 Gene

GeneCards Summary for SPINK4 Gene

SPINK4 (Serine Peptidase Inhibitor, Kazal Type 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity.

Additional gene information for SPINK4 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPINK4 Gene

Genomics for SPINK4 Gene

GeneHancer (GH) Regulatory Elements for SPINK4 Gene

Promoters and enhancers for SPINK4 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
GH09I033239 Promoter/Enhancer 1.5 EPDnew ENCODE 561.9 +21.8 21808 1.3 PKNOX1 SMAD1 ATF1 ARNT ARID4B TCF12 ZNF766 GATA2 ATF7 NCOA1 SPINK4 BAG1 CHMP5 SMU1 B4GALT1 B4GALT1-AS1 RNU4ATAC15P NFX1 GC09P033251 GC09M033166
GH09I033286 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 9.9 +74.8 74762 13 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D NFX1 PIR32325 B4GALT1 BAG1 ENSG00000228352 DFFBP1 ANXA2P2 SMU1 CHMP5 DDX58
GH09I033133 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.5 -78.2 -78231 12.9 HDGF FOXA2 MLX ZFP64 ARID4B DMAP1 IRF4 ZNF48 ETS1 YY1 B4GALT1 B4GALT1-AS1 RNU4ATAC15P SPINK4 SMU1 BAG1 CHMP5 OSTCP8
GH09I033080 Enhancer 1.1 Ensembl ENCODE 11.5 -136.4 -136379 3 PKNOX1 FOXA2 ARID4B ZNF2 SLC30A9 ARID2 ZNF143 ATF7 RUNX3 DEK APTX B4GALT1-AS1 B4GALT1 RNU4ATAC15P SPINK4 SMU1
GH09I033123 Enhancer 1 Ensembl ENCODE dbSUPER 11 -93.2 -93187 3.7 CTCF MAX EBF1 MNT BRCA1 RAD21 FOSL1 ZFHX2 IKZF1 SCRT2 B4GALT1 B4GALT1-AS1 RNU4ATAC15P SPINK4 OSTCP8 SMU1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPINK4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPINK4 gene promoter:

Genomic Locations for SPINK4 Gene

Genomic Locations for SPINK4 Gene
chr9:33,218,365-33,248,567
(GRCh38/hg38)
Size:
30,203 bases
Orientation:
Plus strand
chr9:33,218,363-33,248,565
(GRCh37/hg19)

Genomic View for SPINK4 Gene

Genes around SPINK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPINK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINK4 Gene

Proteins for SPINK4 Gene

  • Protein details for SPINK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60575-ISK4_HUMAN
    Recommended name:
    Serine protease inhibitor Kazal-type 4
    Protein Accession:
    O60575
    Secondary Accessions:
    • Q2YDT7

    Protein attributes for SPINK4 Gene

    Size:
    86 amino acids
    Molecular mass:
    9454 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPINK4 Gene

Post-translational modifications for SPINK4 Gene

No Post-translational modifications

Other Protein References for SPINK4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPINK4 Gene

Domains & Families for SPINK4 Gene

Gene Families for SPINK4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SPINK4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPINK4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPINK4: view

No data available for UniProtKB/Swiss-Prot for SPINK4 Gene

Function for SPINK4 Gene

Phenotypes From GWAS Catalog for SPINK4 Gene

Gene Ontology (GO) - Molecular Function for SPINK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SPINK4: view
genes like me logo Genes that share phenotypes with SPINK4: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPINK4 Gene

Localization for SPINK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINK4 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 SPINK4 gene
Compartment Confidence
extracellular 5
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPINK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with SPINK4: view

Pathways & Interactions for SPINK4 Gene

SuperPathways for SPINK4 Gene

No Data Available

Interacting Proteins for SPINK4 Gene

Selected Interacting proteins: O60575-ISK4_HUMAN for SPINK4 Gene via IID

Gene Ontology (GO) - Biological Process for SPINK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0042493 response to drug IEA --
genes like me logo Genes that share ontologies with SPINK4: view

No data available for Pathways by source and SIGNOR curated interactions for SPINK4 Gene

Drugs & Compounds for SPINK4 Gene

No Compound Related Data Available

Transcripts for SPINK4 Gene

mRNA/cDNA for SPINK4 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPINK4 Gene

Serine peptidase inhibitor, Kazal type 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPINK4 Gene

No ASD Table

Relevant External Links for SPINK4 Gene

GeneLoc Exon Structure for
SPINK4
ECgene alternative splicing isoforms for
SPINK4

Expression for SPINK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPINK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPINK4 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x37.4) and Colon - Transverse (x13.9).

Protein differential expression in normal tissues from HIPED for SPINK4 Gene

This gene is overexpressed in Rectum (34.5), Colon (20.4), and Fetal gut (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPINK4 Gene



Protein tissue co-expression partners for SPINK4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPINK4 Gene:

SPINK4

SOURCE GeneReport for Unigene cluster for SPINK4 Gene:

Hs.555934

Evidence on tissue expression from TISSUES for SPINK4 Gene

  • Intestine(2.6)
genes like me logo Genes that share expression patterns with SPINK4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPINK4 Gene

Orthologs for SPINK4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPINK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINK4 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia SPINK4 33 34
  • 82.95 (n)
cow
(Bos Taurus)
Mammalia SPINK4 33 34
  • 81.78 (n)
rat
(Rattus norvegicus)
Mammalia Spink4 33
  • 79.11 (n)
mouse
(Mus musculus)
Mammalia Spink4 33 16 34
  • 77.13 (n)
oppossum
(Monodelphis domestica)
Mammalia SPINK4 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPINK4 34
  • 28 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SPINK4 34
  • 45 (a)
OneToOne
Species where no ortholog for SPINK4 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)
  • 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)
  • 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)

Evolution for SPINK4 Gene

ENSEMBL:
Gene Tree for SPINK4 (if available)
TreeFam:
Gene Tree for SPINK4 (if available)

Paralogs for SPINK4 Gene

(8) SIMAP similar genes for SPINK4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SPINK4: view

No data available for Paralogs for SPINK4 Gene

Variants for SPINK4 Gene

Sequence variations from dbSNP and Humsavar for SPINK4 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000085858 -- 33,245,454(+) T/G intron_variant
rs1000494958 -- 33,243,597(+) C/T intron_variant
rs1000645423 -- 33,238,590(+) A/T upstream_transcript_variant
rs1000905796 -- 33,238,770(+) C/G upstream_transcript_variant
rs1001580543 -- 33,241,276(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPINK4 Gene

Variant ID Type Subtype PubMed ID
dgv7515n100 CNV gain 25217958
dgv7516n100 CNV gain 25217958
esv2762813 CNV gain 21179565
nsv1023246 CNV gain 25217958
nsv519369 CNV gain 19592680
nsv614146 CNV gain 21841781

Variation tolerance for SPINK4 Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPINK4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPINK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINK4 Gene

Disorders for SPINK4 Gene

Additional Disease Information for SPINK4

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

No disorders were found for SPINK4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPINK4 Gene

Publications for SPINK4 Gene

  1. The SPINK gene family and celiac disease susceptibility. (PMID: 17333166) Wapenaar MC … Wijmenga C (Immunogenetics 2007) 2 3 44 58
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  3. 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) 3 4 58
  4. Molecular cloning of PEC-60 and expression of its mRNA and peptide in the gastrointestinal tract and immune system. (PMID: 1400298) Metsis M … Mutt V (The Journal of biological chemistry 1992) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SPINK4 Gene

Sources for SPINK4 Gene

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