SPINK14 Gene - Serine Peptidase Inhibitor Kazal Type 14

A comprehensive biomedical overview of SPINK14, including genomic context, expression, and disease associations.

Gene Information Card

Symbol SPINK14
Full Name Serine Peptidase Inhibitor Kazal Type 14
Gene Type protein-coding
Chromosomal Location 5q32
NCBI Gene ID 100287596 ncbi.nlm.nih.gov/gene/100287596
Ensembl ID ENSG00000255374
UniProt ID A6NGZ9
OMIM ID 616963
HGNC ID 43935
Aliases SPINK14; MGC129647

Description

SPINK14 (Serine Peptidase Inhibitor Kazal Type 14) is a protein-coding gene located on chromosome 5q32. It belongs to the Kazal-type serine protease inhibitor family, which typically function as protease inhibitors. SPINK14 is predicted to encode a secreted protein containing a Kazal-like domain. Its exact physiological role is not fully characterized, but it may be involved in protease regulation in specific tissues. Expression data from the Human Protein Atlas indicate low to moderate expression in certain tissues, with limited disease associations reported.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association Not established No curated disease associations found in OMIM or ClinVar as of current data.

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 0.4 Low
Thyroid 0.3 Low
Adrenal gland 0.2 Low
Prostate 0.2 Low
Skin 0.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 0.1 Low expression
HeLa (cervical cancer) 0.0 Not detected
HepG2 (liver cancer) 0.0 Not detected
K562 (leukemia) 0.0 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No curated variants Not applicable Not available No pathogenic variants reported in ClinVar or COSMIC.
Mutation functional classification

Loss of Function (LOF)

No evidence of loss-of-function mutations in SPINK14.

Gain of Function (GOF)

No evidence of gain-of-function mutations in SPINK14.

Dominant Negative (DN)

No evidence of dominant-negative mutations in SPINK14.

Gene Ontology (GO)

• serine-type endopeptidase inhibitor activity • extracellular region

Pathways

No specific pathways curated for SPINK14 in major databases.

Protein Summary

SPINK14 is a predicted secreted protein with a Kazal-type serine protease inhibitor domain. It is likely involved in regulating proteolytic activity in extracellular environments. The protein is encoded by a gene on chromosome 5q32 and shows low expression in a few tissues, suggesting a specialized or limited role. Its function remains largely uncharacterized, and no disease associations have been established.

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Displaying Records 1 To 4 Of 4 Records
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