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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPINK8 Gene

protein-coding GIFtS: 33
GCID: GC03M048348

serine peptidase inhibitor, Kazal type 8 (putative)

Explore 1 disease affiliated with
SPINK8 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Serine Peptidase Inhibitor, Kazal Type 8 (Putative)¹ ²
Serine Protease Inhibitor Kazal-Type 8²

External Ids:	HGNC: 33160¹	Entrez Gene: 646424²	Ensembl: ENSG00000229453⁷	UniProtKB: P0C7L1³

Export aliases for SPINK8 gene to outside databases

Previous GC identifer: GC03M048324

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: ISK8_HUMAN, P0C7L1

Function: Probable serine protease inhibitor (By similarity)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPINK8 gene promoter:
USF1 RFX1 Pbx1a SREBP-1c LUN-1 YY1 SREBP-1b AREB6 SREBP-1a USF-1
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPINK8

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

Entrez Gene cytogenetic band: 3p21.31 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.31

SPINK8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINK8 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M048348: view genomic region (about GC identifiers)

Start:	48,348,336 bp from pter	End:	48,369,831 bp from pter
Size:	21,496 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ISK8_HUMAN, P0C7L1 (See protein sequence)

Recommended Name: Serine protease inhibitor Kazal-type 8 precursor

Size: 97 amino acids; 10821 Da

Subcellular location: Secreted (Potential)

Explore the universe of human proteins at neXtProt for SPINK8: NX_P0C7L1

SPINK8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001073994.1

ENSEMBL proteins:

ENSP00000407497

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	Uscn Proteins for SPINK8

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

SPINK8 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SPINK8 for domains About GeneDecksing

1 InterPro domain/family:

IPR002350 Prot_inh_Kazal

Graphical View of Domain Structure for InterPro Entry P0C7L1

ProtoNet protein and cluster: P0C7L1

UniProtKB/Swiss-Prot: ISK8_HUMAN, P0C7L1

Similarity: Contains 1 Kazal-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ISK8_HUMAN, P0C7L1

Function: Probable serine protease inhibitor (By similarity)

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	--

SPINK8 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SPINK8

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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Search CenterWatch for drugs/clinical trials and news about SPINK8 / ISK8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for SPINK8 gene:

NM_001080525.1

Unigene Cluster for SPINK8:

Serine peptidase inhibitor, Kazal type 8 (putative)

Hs.257687 [show with all ESTs]

Unigene Representative Sequence: NM_001080525

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000434006(uc003csq.1)

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1 DOTS entry:

DT.120868221

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPINK8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SPINK8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Sertoli cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SPINK8 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.257687

SABiosciences Custom PCR Arrays for SPINK8

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In Situ
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(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)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for SPINK8 gene from 1/3 species (see all 3) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Spink8^{1 , 5}	serine peptidase inhibitor, Kazal type 8^{1, 5}	70.1(n)¹ 56.7(a)¹		9 (59.77 cM)⁵ 78709¹ NM_183136.2¹ NP_898959.2¹ 109812280⁵

ENSEMBL Gene Tree for SPINK8 (if available)
TreeFam Gene Tree for SPINK8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201058322^1,2	C	--	48347858(-)	`TCTGTA/CAAAAA`	1	--	ds500¹		0	--	--	--	--
rs7620674^1,2	C,H	--	48347899(+)	`ACTCTC/TAGTCA`	1	--	ds500¹		4		NS EA	396
rs7632297^1,2	C,F,A,H,	--	48348163(+)	`CAGAAA/CGCTTG`	1	--	ds500¹		7		NS NA EA	360
rs145280503^1,2		--	48348231(+)	`CAGAGA/GGAACC`	1	--	ds500¹		0	--	--	--	--
rs200345541^1,2		--	48348514(+)	`CTGCTG/TAGAGA`	1	--	int¹		0	--	--	--	--
rs79089926^1,2	C,F,	--	48348564(+)	`GGTAAA/CCACAA`	1	--	int¹		5		NA WA EA	362
rs191610122^1,2		--	48348643(+)	`TTCACC/TGGAGA`	1	--	int¹		0	--	--	--	--
rs74316698^1,2	F,	--	48348754(+)	`ATAGAG/CGCAGT`	1	--	int¹		1		WA	118
rs201393297^1,2		--	48348865(+)	`TTTCC-/TTTTCC`	1	--	int¹		0	--	--	--	--
rs183707648^1,2		--	48348866(+)	`TTTCCA/TTTCCC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SPINK8 (48348336 - 48369831 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SPINK8
1 Indel: 40530

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SPINK8 for disorders About GeneDecksing

1 disease for SPINK8: About MalaCards

epididymitis

Human Genome Epidemiology (HuGE) Navigator: SPINK8 (1 document)

Export disorders for SPINK8 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)
About This Section

PubMed articles for SPINK8 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SPINK8)

Utopia: connect your pdf to the dynamic
world of online information

Novel epididymal protease inhibitors with Kazal or WAP family domain. (PubMed id 16930550)^{1, 3} Jalkanen J....Poutanen M. (2006)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)² Muzny D.M....Gibbs R.A. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 646424	HGNC: 33160	Ensembl:ENSG00000229453	euGenes: HUgn646424	ECgene: SPINK8
H-InvDB: SPINK8

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SPINK8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SPINK8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SPINK8 gene:
Search GeneIP for patents involving SPINK8

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

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About This Section


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SPINK8 Gene

serine peptidase inhibitor, Kazal type 8 (putative)

Aliases
for SPINK8 gene

Summaries
for SPINK8 gene

Genomic Views
for SPINK8 gene

Proteins
for SPINK8 gene

Protein Domains /
Families
for SPINK8 gene

Function
for SPINK8 gene

Pathways & Interactions
for SPINK8 gene

Drugs & Compounds
for SPINK8 gene

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for SPINK8 gene

Expression
for SPINK8 gene

Orthologs
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for SPINK8 gene

Genomic Variants
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SPINK8 Gene

serine peptidase inhibitor, Kazal type 8 (putative)

Aliasesfor SPINK8 gene

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Genome Databases showing SPINK8 gene

Other Databases showing SPINK8 gene

Specialized Databases showing SPINK8 gene

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View Random Gene

Aliases
for SPINK8 gene

Summaries
for SPINK8 gene

Genomic Views
for SPINK8 gene

Proteins
for SPINK8 gene

Protein Domains /
Families
for SPINK8 gene

Function
for SPINK8 gene

Pathways & Interactions
for SPINK8 gene

Drugs & Compounds
for SPINK8 gene

Transcripts
for SPINK8 gene

Expression
for SPINK8 gene

Orthologs
for SPINK8 gene

Paralogs
for SPINK8 gene

Genomic Variants
for SPINK8 gene

Disorders / Diseases
for SPINK8 gene

Publications
for SPINK8 gene

Intellectual Property
for SPINK8 gene

Products
for SPINK8 gene