SPINK9 serine peptidase inhibitor Kazal type 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPINK9provided by HGNC
Official Full Name: serine peptidase inhibitor Kazal type 9provided by HGNC
Primary source: HGNC:HGNC:32951
See related: Ensembl:ENSG00000204909 MIM:613511; AllianceGenome:HGNC:32951
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: LEKTI2
Summary: The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiation in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [provided by RefSeq, Dec 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 5q32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (148321305..148339852)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (148855816..148874362)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (147715122..147719415)

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
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?

SPINK9 has a role in stimulating metalloprotease/EGFR-dependent keratinocyte migration by purinergic receptor pathway activation
Title: SPINK9 stimulates metalloprotease/EGFR-dependent keratinocyte migration via purinergic receptor activation.
the inhibition and binding of different SPINK9 variants towards KLK5, KLK7, KLK8 and KLK14
Title: Characterization of SPINK9, a KLK5-specific inhibitor expressed in palmo-plantar epidermis.
mSPINK12 shows an inhibitory activity against murine keratinocyte-derived trypsin-like proteolytic activity, and thus, appears orthologous to human LEKTI2 and may play an role in the regulation of epithelial cell functions.
Title: Expression and regulation of murine SPINK12, a potential orthologue of human LEKTI2.
possible role for SPINK9 in the site-specific epidermal differentiation of palms and soles
Title: SPINK9: a selective, skin-specific Kazal-type serine protease inhibitor.
A new KLK5-inhibiting peptide encoded by a member of the Spink family, designated as Spink9 located on chromosome 5p33.1, was identified.
Title: Identification of lympho-epithelial Kazal-type inhibitor 2 in human skin as a kallikrein-related peptidase 5-specific protease inhibitor.

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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

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	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: serine protease inhibitor Kazal-type 9

Names: lymphoepithelial Kazal-type-related inhibitor 2

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.