Aliases for SPINT4 Gene

Aliases for SPINT4 Gene

  • Serine Peptidase Inhibitor, Kunitz Type 4 2 3 5
  • C20orf137 2 3 4
  • Kunitz-Type Protease Inhibitor 4 3 4
  • DJ601O1.1 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Serine Protease Inhibitor, Kunitz Type 1 3
  • Serine Protease Inhibitor, Kunitz Type 4 3
  • SPINT3 3
  • SPINT4 5

External Ids for SPINT4 Gene

Previous HGNC Symbols for SPINT4 Gene

  • C20orf137

Previous GeneCards Identifiers for SPINT4 Gene

  • GC00U901027
  • GC20P043785
  • GC20P044350
  • GC20P041092

Summaries for SPINT4 Gene

GeneCards Summary for SPINT4 Gene

SPINT4 (Serine Peptidase Inhibitor, Kunitz Type 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is TFPI2.

Additional gene information for SPINT4 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPINT4 Gene

Genomics for SPINT4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPINT4 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
GH20J045722 Promoter 0.3 EPDnew 600.7 0.0 -17 0.1 SPINT4 WFDC10B WFDC3
GH20J045695 Enhancer 0.2 Ensembl 11 -26.7 -26746 0.8 piR-46002-350 piR-52368-085 WFDC3 SPINT4 WFDC13 WFDC10B WFDC11
GH20J045725 Enhancer 0.8 ENCODE 0.7 +2.9 2908 0.1 GATAD2A TFE3 NFKBIZ RCOR2 RXRB IRF2 SP1 CEBPA SOX13 RFX3 HNRNPA1P3 SPINT5P WFDC13 SPINT4 piR-41306-164 WFDC3
GH20J045777 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.2 +59.3 59254 7.6 CREB1 ATF7 PRDM10 ZNF629 ZNF692 TARDBP ZHX2 JUND FOXA1 ZIC2 lnc-TNNC2-2 WFDC10B WFDC3 DNTTIP1 WFDC13 RF00619-020 RNU6ATAC38P piR-57133-369 lnc-WFDC3-1 SPINT4
GH20J045770 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.2 +50.4 50444 4 GATAD2A CTCF TFE3 JUND FOXA1 PRDM1 ZNF143 POLR2A RXRB REST WFDC3 WFDC13 SPINT5P HNRNPA1P3 UBE2C SNX21 TNNC2 EPPIN EPPIN-WFDC6 HSPD1P21
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPINT4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPINT4

Top Transcription factor binding sites by QIAGEN in the SPINT4 gene promoter:
  • AhR
  • Arnt
  • Brachyury
  • GATA-1
  • GATA-2
  • GATA-3
  • Gfi-1
  • Pax-4a
  • Pax-6
  • STAT3

Genomic Locations for SPINT4 Gene

Genomic Locations for SPINT4 Gene
chr20:45,722,347-45,725,830
(GRCh38/hg38)
Size:
3,484 bases
Orientation:
Plus strand
chr20:44,350,988-44,354,469
(GRCh37/hg19)
Size:
3,482 bases
Orientation:
Plus strand

Genomic View for SPINT4 Gene

Genes around SPINT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPINT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINT4 Gene

Proteins for SPINT4 Gene

  • Protein details for SPINT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UDR6-SPIT4_HUMAN
    Recommended name:
    Kunitz-type protease inhibitor 4
    Protein Accession:
    Q6UDR6
    Secondary Accessions:
    • Q9BQN3

    Protein attributes for SPINT4 Gene

    Size:
    99 amino acids
    Molecular mass:
    11421 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPINT4 Gene

Post-translational modifications for SPINT4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPINT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPINT4 Gene

Domains & Families for SPINT4 Gene

Gene Families for SPINT4 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for SPINT4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPINT4 Gene

GenScript: Design optimal peptide antigens:
  • Kunitz-type protease inhibitor 4 (SPIT4_HUMAN)
genes like me logo Genes that share domains with SPINT4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPINT4 Gene

Function for SPINT4 Gene

Gene Ontology (GO) - Molecular Function for SPINT4 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 SPINT4: view

Phenotypes for SPINT4 Gene

GenomeRNAi human phenotypes for SPINT4:
genes like me logo Genes that share phenotypes with SPINT4: view

Animal Model Products

CRISPR Products

miRNA for SPINT4 Gene

miRTarBase miRNAs that target SPINT4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPINT4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPINT4 Gene

Localization for SPINT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINT4 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 SPINT4 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SPINT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with SPINT4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPINT4 Gene

Pathways & Interactions for SPINT4 Gene

PathCards logo

SuperPathways for SPINT4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPINT4 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 --
genes like me logo Genes that share ontologies with SPINT4: view

No data available for Pathways by source and SIGNOR curated interactions for SPINT4 Gene

Drugs & Compounds for SPINT4 Gene

No Compound Related Data Available

Transcripts for SPINT4 Gene

mRNA/cDNA for SPINT4 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPINT4

Alternative Splicing Database (ASD) splice patterns (SP) for SPINT4 Gene

No ASD Table

Relevant External Links for SPINT4 Gene

GeneLoc Exon Structure for
SPINT4

Expression for SPINT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPINT4 Gene

Protein differential expression in normal tissues from HIPED for SPINT4 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPINT4 Gene



Protein tissue co-expression partners for SPINT4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPINT4

SOURCE GeneReport for Unigene cluster for SPINT4 Gene:

Hs.677891

Evidence on tissue expression from TISSUES for SPINT4 Gene

  • Eye(2.9)
genes like me logo Genes that share expression patterns with SPINT4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPINT4 Gene

Orthologs for SPINT4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPINT4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPINT4 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPINT4 30 31
  • 85.47 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Spint4 30 17 31
  • 70.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPINT4 31
  • 54 (a)
OneToOne
Species where no ortholog for SPINT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 SPINT4 Gene

ENSEMBL:
Gene Tree for SPINT4 (if available)
TreeFam:
Gene Tree for SPINT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPINT4: view image

Paralogs for SPINT4 Gene

(6) SIMAP similar genes for SPINT4 Gene using alignment to 1 proteins:

  • SPIT4_HUMAN
genes like me logo Genes that share paralogs with SPINT4: view

Variants for SPINT4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPINT4 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs16990631 - p.Ala30Glu
rs6017667 - p.Gly73Ser

Additional dbSNP identifiers (rs#s) for SPINT4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SPINT4 Gene

Variant ID Type Subtype PubMed ID
dgv1247e212 CNV loss 25503493
dgv4320n100 CNV loss 25217958
dgv4321n100 CNV loss 25217958
dgv7590n54 CNV loss 21841781
dgv7591n54 CNV loss 21841781
dgv7592n54 CNV loss 21841781
esv23805 CNV gain 19812545
esv24579 CNV loss 19812545
esv2678145 CNV deletion 23128226
esv2751915 CNV loss 17911159
esv2751916 CNV loss 17911159
esv2763671 CNV loss 21179565
esv33602 CNV loss 17666407
esv3557119 CNV deletion 23714750
esv3645939 CNV loss 21293372
nsv458986 CNV loss 19166990
nsv514940 CNV gain 21397061
nsv586081 CNV loss 21841781
nsv586115 CNV loss 21841781
nsv586116 CNV loss 21841781
nsv586121 CNV loss 21841781

Variation tolerance for SPINT4 Gene

Residual Variation Intolerance Score: 76.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPINT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPINT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINT4 Gene

Disorders for SPINT4 Gene

Additional Disease Information for SPINT4

No disorders were found for SPINT4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPINT4 Gene

Publications for SPINT4 Gene

  1. Three genes expressing Kunitz domains in the epididymis are related to genes of WFDC-type protease inhibitors and semen coagulum proteins in spite of lacking similarity between their protein products. (PMID: 21988899) Clauss A … Lundwall Å (BMC biochemistry 2011) 2 3
  2. Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans. (PMID: 21536719) Ferreira Z … Seixas S (Molecular biology and evolution 2011) 3
  3. Transcriptome analysis of a cDNA library from adult human epididymis. (PMID: 18390568) Li JY … Zhang YL (DNA research : an international journal for rapid publication of reports on genes and genomes 2008) 3
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 4

Products for SPINT4 Gene

Sources for SPINT4 Gene