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SPINK2 serine peptidase inhibitor, Kazal type 2 [ Homo sapiens (human) ]

Gene ID: 6691, updated on 22-Sep-2018

Summary

Official Symbol
SPINK2provided by HGNC
Official Full Name
serine peptidase inhibitor, Kazal type 2provided by HGNC
Primary source
HGNC:HGNC:11245
See related
Ensembl:ENSG00000128040 MIM:605753; Vega:OTTHUMG00000128769
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPGF29; HUSI-II
Summary
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]
Expression
Restricted expression toward testis (RPKM 57.3) See more
Orthologs

Genomic context

See SPINK2 in Genome Data Viewer
Location:
4q12
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (56809860..56822210, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57676026..57688035, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377668 Neighboring gene RNA, 7SL, cytoplasmic 357, pseudogene Neighboring gene RE1 silencing transcription factor Neighboring gene nitric oxide associated 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
negative regulation of serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
acrosomal vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
serine protease inhibitor Kazal-type 2
Names
epididymis tissue protein Li 172
serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001271718.1NP_001258647.1  serine protease inhibitor Kazal-type 2 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AA973772, BI561149, BI562269, HY028205
    Consensus CDS
    CCDS63971.1
    UniProtKB/TrEMBL
    D6RI10
    Related
    ENSP00000425961.1, OTTHUMP00000218967, ENST00000506738.5, OTTHUMT00000362242
    Conserved Domains (1) summary
    pfam00050
    Location:86134
    Kazal_1; Kazal-type serine protease inhibitor domain
  2. NM_001271719.1NP_001258648.1  serine protease inhibitor Kazal-type 2 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region which results in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 3 which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA973772, AC022483, BI520020, BI561149
  3. NM_001271720.1NP_001258649.1  serine protease inhibitor Kazal-type 2 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 4 which is shorter than isoform 1.
    Source sequence(s)
    AA973772, AC022483, BU853655, HY043430
    Consensus CDS
    CCDS63972.1
    UniProtKB/TrEMBL
    D6RC51
    Related
    ENSP00000423858.1, OTTHUMP00000218968, ENST00000504762.1, OTTHUMT00000362243
    Conserved Domains (1) summary
    pfam00050
    Location:71119
    Kazal_1; Kazal-type serine protease inhibitor domain
  4. NM_001271721.1NP_001258650.1  serine protease inhibitor Kazal-type 2 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses two alternate splice sites in the 5' coding region which results in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 5 which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA776754, AA973772, AC022483, BC022514, HY043430, HY055610
    UniProtKB/Swiss-Prot
    P20155
  5. NM_001271722.1NP_001258651.1  serine protease inhibitor Kazal-type 2 isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two exons in the coding region which results in a frameshift, compared to variant 1. It encodes isoform 6 which has a distinct C-terminus and is the same length as isoform 1.
    Source sequence(s)
    AA973772, AC022483, BC022514, BF589674, HY043430
    Consensus CDS
    CCDS75128.1
    UniProtKB/Swiss-Prot
    P20155
    UniProtKB/TrEMBL
    A0A087WTA9
    Related
    ENSP00000477722.1, ENST00000618802.3
  6. NM_021114.3NP_066937.1  serine protease inhibitor Kazal-type 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_066937.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1
    Source sequence(s)
    AA973772, AC022483, BC022514, HY028205
    Consensus CDS
    CCDS3508.1
    UniProtKB/Swiss-Prot
    P20155
    UniProtKB/TrEMBL
    A0A024RD95
    Related
    ENSP00000248701.4, OTTHUMP00000158971, ENST00000248701.8, OTTHUMT00000250690
    Conserved Domains (1) summary
    pfam00050
    Location:3684
    Kazal_1; Kazal-type serine protease inhibitor domain

RNA

  1. NR_073417.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA973772, AW592089, BC022514
  2. NR_073418.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate 5' exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a predicted ORF meeting protein length quality criteria.
    Source sequence(s)
    AA973772, AC022483, AV743457, BC022514, DB451710, HY028205
  3. NR_073419.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA973772, AC022483, BC022514, HY020998

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    56809860..56822210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454191.1XP_024309959.1  serine protease inhibitor Kazal-type 2 isoform X1

  2. XM_011534405.1XP_011532707.1  serine protease inhibitor Kazal-type 2 isoform X2

    Conserved Domains (1) summary
    pfam00050
    Location:138186
    Kazal_1; Kazal-type serine protease inhibitor domain
  3. XM_011534406.2XP_011532708.1  serine protease inhibitor Kazal-type 2 isoform X3

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