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SPINT4 Gene

protein-coding   GIFtS: 31
GCID: GC20P044350

Serine Peptidase Inhibitor, Kunitz Type 4

(Previous names: chromosome 20 open reading frame 137, serine peptidase inhibitor,...)
(Previous symbol: C20orf137)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serine Peptidase Inhibitor, Kunitz Type 41 2     dJ601O1.12
C20orf1371 2 3     Kunitz-Type Protease Inhibitor 42
Chromosome 20 Open Reading Frame 1371     Serine Protease Inhibitor, Kunitz Type 12
SPINT32     Serine Protease Inhibitor, Kunitz Type 42

External Ids:    HGNC: 161301   Entrez Gene: 3912532   Ensembl: ENSG000001496517   UniProtKB: Q6UDR63   

Export aliases for SPINT4 gene to outside databases

Previous GC identifers: GC00U901027 GC20P043785 GC20P041092


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPINT4 Gene:
SPINT4 (serine peptidase inhibitor, Kunitz type 4) is a protein-coding gene. Diseases associated with SPINT4 include epididymitis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SPINT4 gene promoter:
         AhR   GATA-3   Brachyury   Pax-6   Arnt   GATA-1   GATA-2   Gfi-1   STAT3   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPINT4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

SPINT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINT4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P044350:  view genomic region     (about GC identifiers)

Start:
44,350,988 bp from pter      End:
44,354,469 bp from pter
Size:
3,482 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
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UniProtKB/Swiss-Prot: SPIT4_HUMAN, Q6UDR6 (See protein sequence)
Recommended Name: Kunitz-type protease inhibitor 4 precursor  
Size: 99 amino acids; 11421 Da
Secondary accessions: Q9BQN3

Explore the universe of human proteins at neXtProt for SPINT4: NX_Q6UDR6

Explore proteomics data for SPINT4 at MOPED


See SPINT4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_848550.1  
ENSEMBL proteins: 
 ENSP00000279058  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR002223 Prot_inh_Kunz-m

Graphical View of Domain Structure for InterPro Entry Q6UDR6

ProtoNet protein and cluster: Q6UDR6

UniProtKB/Swiss-Prot: SPIT4_HUMAN, Q6UDR6
Similarity: Contains 1 BPTI/Kunitz inhibitor domain


SPINT4 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004867serine-type endopeptidase inhibitor activity IEA--
     
SPINT4 for ontologies           About GeneDecksing


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
SPIT4_HUMAN, Q6UDR6: Secreted (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular4

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

SPINT4 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPINT4
Interactions:

    Search GeneGlobe Interaction Network for SPINT4

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for SPINT4 (SPIT4)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SPINT4 gene: 
NM_178455.1  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000279058(uc002xpe.1)
miRNA
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4 AceView cDNA sequences:

AY372173 AW303354 AY372174 BI827564 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SPINT4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AATTTTGGAA
SPINT4 Expression
About this image

SPINT4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SPINT4 Protein Expression
    Custom PCR Arrays for SPINT4
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINT4

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and mouse.

Orthologs for SPINT4 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Spint41 , 5 serine protease inhibitor, Kunitz type 41, 5 70.75(n)1
58.16(a)1
  2 (85.26 cM)5
782391  NM_030058.21  NP_084334.11 
 1646985015 


ENSEMBL Gene Tree for SPINT4 (if available)
TreeFam Gene Tree for SPINT4 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SPINT4 gene
6 SIMAP similar genes for SPINT4 using alignment to 1 protein entry:     SPIT4_HUMAN:
AMBP    COL28A1    COL6A3    TFPI2    TFPI    WFDC8

SPINT4 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SPINT4 (see all 162)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1861964981,2
--44349074(+) CCCATC/GAATGA 1 -- us2k10--------
rs130447351,2
C,F--44349076(+) catcaG/Atgata 1 -- us2k1 tfbs32Minor allele frequency- A:0.50NA 4
rs60324681,2
C,F--44349105(+) tgataC/Ttgaaa 1 -- us2k1 tfbs33Minor allele frequency- T:0.50NA WA 6
rs1452827881,2
C--44349109(+) CTGAA-/ATATATA 1 -- us2k10--------
rs574509851,2
C--44349110(+) ATATA-/AT/TA 
        
CACAC
1 -- us2k10--------
rs776171161,2
C,F--44349194(+) TGGATG/AGAGCT 1 -- us2k12Minor allele frequency- A:0.08WA 120
rs1122002241,2
F--44349201(+) AGCTCG/AAAGCA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
rs60324691,2
C,F,A--44349417(+) TGTGCG/AGCAAA 1 -- us2k18Minor allele frequency- A:0.41NA WA CSA EA 367
rs759711101,2
C,F--44349449(+) ATGTAT/AGTAAC 1 -- us2k12Minor allele frequency- A:0.10CSA WA 120
rs1436431241,2
--44349458(+) ACAAAA/CCTGCA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for SPINT4 (44350988 - 44354469 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for SPINT4:    About this table    
Variant IDTypeSubtypePubMed ID
esv2678145CNV Deletion23128226
esv33602CNV Loss17666407
nsv458986CNV Loss19166990
esv2751915CNV Loss17911159
esv24579CNV Loss19812545
esv2751916CNV Loss17911159
esv23805CNV Gain19812545
nsv514940CNV Complex21397061

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for SPINT4:    
About MalaCards
epididymitis


SPINT4 for disorders           About GeneDecksing


Export disorders for SPINT4 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for SPINT4 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SPINT4)
    Utopia: connect your pdf to the dynamic
world of online information

  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. (PubMed id 21988899)1, 3 Clauss A....Lundwall A.8. (BMC Biochem. 2011)
  2. Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans. (PubMed id 21536719)1 Ferreira Z....Seixas S. (Mol. Biol. Evol. 2011)
  3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)2 Deloukas P....Rogers J. (Nature 2001)
  4. (PubMed id )2 

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 391253 HGNC: 16130 AceView: C20orf137 Ensembl:ENSG00000149651 euGenes: HUgn391253
ECgene: SPINT4 H-InvDB: SPINT4

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for SPINT4 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for SPINT4 gene:
Search GeneIP for patents involving SPINT4

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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