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.
View complete mutation data:
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.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPINK14 Knockout HEK293 Cell Line | EDJ-KQ11838 | Human | 408187 | Details Get a Quote |
| SPINK14 Knockout HeLa Cell Line | EDJ-KQ60353 | Human | 408187 | Details Get a Quote |
| SPINK14 Knockout A-549 Cell Line | EDJ-KQ68820 | Human | 408187 | Details Get a Quote |
| SPINK14 Knockout HCT 116 Cell Line | EDJ-KQ77184 | Human | 408187 | Details Get a Quote |
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