SPINK7 serine peptidase inhibitor Kazal type 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPINK7provided by HGNC
Official Full Name: serine peptidase inhibitor Kazal type 7provided by HGNC
Primary source: HGNC:HGNC:24643
See related: Ensembl:ENSG00000145879 MIM:617288; AllianceGenome:HGNC:24643
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: ECG2; ECRG2
Summary: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to act upstream of or within inflammatory response and negative regulation of cytokine production involved in inflammatory response. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward esophagus (RPKM 102.7) See more
Orthologs: mouse all
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Genomic context

Location:: 5q32

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (148312423..148315919)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (148846934..148850430)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (147691986..147695482)

Chromosome 5 - NC_000005.10 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?

SPINK7 expression changes accompanied by HER2, P53 and RB1 can be relevant in predicting oral squamous cell carcinoma at a molecular level.
Title: SPINK7 expression changes accompanied by HER2, P53 and RB1 can be relevant in predicting oral squamous cell carcinoma at a molecular level.
ECRG2, a novel transcriptional target of p53, modulates cancer cell sensitivity to DNA damage.
Title: ECRG2, a novel transcriptional target of p53, modulates cancer cell sensitivity to DNA damage.
ECRG2/SPINK7 is a novel pro-apoptotic target of p53, which is induced by DNA damage in a p53-dependent manner.
Title: ECRG2, a novel transcriptional target of p53, modulates cancer cell sensitivity to DNA damage.
SPINK7 (serine peptidase inhibitor, kazal type 7), is part of the differentiation program of human esophageal epithelium.
Title: The antiprotease SPINK7 serves as an inhibitory checkpoint for esophageal epithelial inflammatory responses.
n cultured keratinocytes, SPINK7 mRNA expression was up-regulated by IL-17A together with IFNgamma
Title: The serine protease inhibitor of Kazal-type 7 (SPINK7) is expressed in human skin.
Negative regulation of RNA-binding protein HuR by tumor-suppressor ECRG2
Title: Negative regulation of RNA-binding protein HuR by tumor-suppressor ECRG2.
ECRG2 in combination with cisplatin (DDP) can inhibit viability and induce apoptosis in esophageal cancer DDP-resistant cells, possibly via upregulation of p53 expression and downregulation of PCNA expression.
Title: ECRG2 enhances the anti-cancer effects of cisplatin in cisplatin-resistant esophageal cancer cells via upregulation of p53 and downregulation of PCNA.
miR-1322 can regulate ECRG2 in an allele-specific manner and that serum levels of miR-1322 can serve as a potential diagnostic biomarker for patients with ESCC.
Title: MicroRNA-1322 regulates ECRG2 allele specifically and acts as a potential biomarker in patients with esophageal squamous cell carcinoma.
Conformational study of ECRG2 using NMR.
Title: NMR structure note: human esophageal cancer-related gene 2.
ECRG2 is a novel member of the Kazal-type serine protease inhibitor family and may function as a tumor suppressor gene regulating the protease cascades during carcinogenesis and invasion of esophageal cancer.
Title: Molecular cloning and characterization of a novel esophageal cancer related gene.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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

Process	Evidence Code	Pubs
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cytokine production involved in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of peptidase activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serine protease inhibitor Kazal-type 7

Names: ECRG-2; esophagus cancer-related gene 2 protein; esophagus cancer-related gene-2; serine peptidase inhibitor, Kazal type 7 (putative)

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_032566.3 → NP_115955.1 serine protease inhibitor Kazal-type 7 precursor

See identical proteins and their annotated locations for NP_115955.1

Status: VALIDATED

Source sequence(s)

AC091948, AF268198, AY359072

Consensus CDS

CCDS4289.1

UniProtKB/Swiss-Prot

P58062, Q32LY0

Related

ENSP00000274565.4, ENST00000274565.5

Conserved Domains (1) summary

cd01327
Location:41 → 85

KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...