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

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; AllianceGenome:HGNC:11245
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: mouse all
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Genomic context

Location:: 4q12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (56809860..56821869, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (60297771..60309781, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (57676026..57688035, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.
Title: SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.
Investigated whether tazarotene-induced gene 1 protein (TIG1) affects the activity of urokinase plasminogen-type activator, which is negatively regulated by serine peptidase inhibitor Kazal type 2 (SPINK2), potentially preventing epithelial mesenchymal transition and suppressing cell migration and invasion.
Title: Tazarotene-Induced Gene 1 (TIG1) Interacts with Serine Protease Inhibitor Kazal-Type 2 (SPINK2) to Inhibit Cellular Invasion of Testicular Carcinoma Cells.
These results demonstrate that SPINK2 is necessary to neutralize proteases during their cellular transit toward the acrosome and that its deficiency induces a pathological continuum ranging from oligoasthenoteratozoospermia in heterozygotes to azoospermia in homozygotes.
Title: SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
Data showed that the expression level of SPINK2 is significantly elevated in most leukemia cell lines except B-lymphoblast TK-6 cells. Data demonstrated that Arg(24) at the P1 site is crucial for the specificity of SPINK2 on target enzyme.
Title: Identification of trypsin-inhibitory site and structure determination of human SPINK2 serine proteinase inhibitor.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: The SPINK gene family and celiac disease susceptibility.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure 29 MedGen: C4748142 OMIM: 618091 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-50821 (e-PCR)
- UniSTS:11310

SHGC4-1789 (e-PCR)
- UniSTS:89907

RH11111 (e-PCR)
- UniSTS:44664

D4S3141 (e-PCR)
- UniSTS:11668

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acrosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatid development	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in acrosomal vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_001271718.2 → NP_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, ENST00000506738.6

Conserved Domains (1) summary

pfam00050
Location:86 → 134

Kazal_1; Kazal-type serine protease inhibitor domain
NM_001271719.2 → NP_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)

BI520020, BI561149
NM_001271720.2 → NP_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, BU853655, HY043430

Consensus CDS

CCDS63972.1

UniProtKB/TrEMBL

D6RC51

Related

ENSP00000423858.1, ENST00000504762.1

Conserved Domains (1) summary

pfam00050
Location:71 → 119

Kazal_1; Kazal-type serine protease inhibitor domain
NM_001271721.2 → NP_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, BC022514, HY043430, HY055610

UniProtKB/Swiss-Prot

P20155
NM_001271722.2 → NP_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)

BC022514, BF589674, HY043430

Consensus CDS

CCDS75128.1

UniProtKB/TrEMBL

A0A087WTA9

Related

ENSP00000477722.1, ENST00000618802.3
NM_021114.4 → NP_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)

BC022514

Consensus CDS

CCDS3508.1

UniProtKB/Swiss-Prot

P20155, Q6FGH2

Related

ENSP00000248701.4, ENST00000248701.8

Conserved Domains (1) summary

pfam00050
Location:36 → 84

Kazal_1; Kazal-type serine protease inhibitor domain

RNA

NR_073417.2 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)

AC022483, AW592089, BC022514
NR_073418.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AA973772, AC022483, AV743457, BC022514, DB451710, HY028205
NR_073419.2 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)

AC022483, BC022514, HY020998