SPINK4 serine peptidase inhibitor Kazal type 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPINK4provided by HGNC
Official Full Name: serine peptidase inhibitor Kazal type 4provided by HGNC
Primary source: HGNC:HGNC:16646
See related: Ensembl:ENSG00000122711 MIM:613929; AllianceGenome:HGNC:16646
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PEC60; HEL136; PEC-60
Summary: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity and response to xenobiotic stimulus. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in colon (RPKM 295.5), small intestine (RPKM 212.3) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (33240167..33248567)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (33258882..33267284)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (33240165..33248565)

Chromosome 9 - NC_000009.12 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
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?

this study shows that downregulated SPINK4 is associated with poor survival in colorectal cancer
Title: Downregulated SPINK4 is associated with poor survival in colorectal cancer.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: The SPINK gene family and celiac disease susceptibility.

Submit: New GeneRIF Correction

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

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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Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
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 4

Names: epididymis luminal protein 136; gastrointestinal peptide; peptide PEC-60 homolog

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_014471.3 → NP_055286.1 serine protease inhibitor Kazal-type 4 precursor

See identical proteins and their annotated locations for NP_055286.1

Status: VALIDATED

Source sequence(s)

AA296922, AF048700

Consensus CDS

CCDS6536.1

UniProtKB/Swiss-Prot

O60575, Q2YDT7

UniProtKB/TrEMBL

V9HWG8

Related

ENSP00000369045.3, ENST00000379721.4

Conserved Domains (1) summary

cl00097
Location:42 → 86

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...