Human Gene SPINK2 (ENST00000248701.8) from GENCODE V44
  Description: Homo sapiens serine peptidase inhibitor Kazal type 2 (SPINK2), transcript variant 2, mRNA. (from RefSeq NM_021114)
RefSeq Summary (NM_021114): This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012].
Gencode Transcript: ENST00000248701.8
Gencode Gene: ENSG00000128040.13
Transcript (Including UTRs)
   Position: hg38 chr4:56,809,861-56,821,742 Size: 11,882 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr4:56,810,139-56,821,662 Size: 11,524 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:56,809,861-56,821,742)mRNA (may differ from genome)Protein (84 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ISK2_HUMAN
DESCRIPTION: RecName: Full=Serine protease inhibitor Kazal-type 2; AltName: Full=Acrosin-trypsin inhibitor; AltName: Full=Epididymis tissue protein Li 172; AltName: Full=HUSI-II; Flags: Precursor;
FUNCTION: Strong inhibitor of acrosin in male and/or female genital tract. Also inhibits trypsin.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed in epididymis (at protein level).
SIMILARITY: Contains 1 Kazal-like domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 264.16 RPKM in Testis
Total median expression: 277.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.5080-0.406 Picture PostScript Text
3' UTR -59.80278-0.215 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002350 - Prot_inh_Kazal

Pfam Domains:
PF00050 - Kazal-type serine protease inhibitor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2JXD - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P20155
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004866 endopeptidase inhibitor activity
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0030414 peptidase inhibitor activity

Biological Process:
GO:0010466 negative regulation of peptidase activity
GO:0060046 regulation of acrosome reaction
GO:1900004 negative regulation of serine-type endopeptidase activity

Cellular Component:
GO:0001669 acrosomal vesicle
GO:0005576 extracellular region
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  BC022514 - Homo sapiens serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor), mRNA (cDNA clone MGC:26562 IMAGE:4812189), complete cds.
GU727622 - Homo sapiens epididymis tissue protein Li 172 mRNA, complete cds.
X57655 - H.sapiens RNA for acrosin-trypsin inhibitor (HUSI-II).
JD429315 - Sequence 410339 from Patent EP1572962.
JD467775 - Sequence 448799 from Patent EP1572962.
JD498919 - Sequence 479943 from Patent EP1572962.
JD316486 - Sequence 297510 from Patent EP1572962.
JD449666 - Sequence 430690 from Patent EP1572962.
AK312222 - Homo sapiens cDNA, FLJ92511, Homo sapiens serine protease inhibitor, Kazal type, 2(acrosin-trypsin inhibitor) (SPINK2), mRNA.
KJ897594 - Synthetic construct Homo sapiens clone ccsbBroadEn_06988 SPINK2 gene, encodes complete protein.
DQ895533 - Synthetic construct Homo sapiens clone IMAGE:100009993; FLH185350.01L; RZPDo839A04147D serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) (SPINK2) gene, encodes complete protein.
EU176199 - Synthetic construct Homo sapiens clone IMAGE:100006615; FLH264073.01X; RZPDo839B09257D serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) (SPINK2) gene, encodes complete protein.
CR542135 - Homo sapiens full open reading frame cDNA clone RZPDo834H0125D for gene SPINK2, serine protease inhibitor, Kazal type, 2 (acrosin-trypsin inhibitor); complete cds, without stopcodon.
DQ596286 - Homo sapiens piRNA piR-34352, complete sequence.
JD399885 - Sequence 380909 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000248701.1, ENST00000248701.2, ENST00000248701.3, ENST00000248701.4, ENST00000248701.5, ENST00000248701.6, ENST00000248701.7, ISK2_HUMAN, NM_021114, P20155, Q6FGH2, uc003hcg.1, uc003hcg.2, uc003hcg.3
UCSC ID: ENST00000248701.8
RefSeq Accession: NM_021114
Protein: P20155 (aka ISK2_HUMAN)
CCDS: CCDS3508.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.