KIAA1217
A gene encoding a protein of unknown function, associated with skeletal dysplasia and cancer.
Gene Information Card
| Symbol | KIAA1217 |
|---|---|
| Full Name | KIAA1217 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.31 |
| NCBI Gene ID | 57543 ncbi.nlm.nih.gov/gene/57543 |
| Ensembl ID | ENSG00000165807 |
| UniProt ID | Q5VWQ8 |
| OMIM ID | 617075 |
| HGNC ID | 29232 |
| Aliases | SKD1, FLJ23577 |
Description
KIAA1217 is a protein-coding gene located on chromosome 10p12.31. The encoded protein is of unknown function but is predicted to be involved in cellular processes. Mutations in KIAA1217 have been associated with skeletal dysplasia, and altered expression has been observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skeletal dysplasia (short stature, brachydactyly) | Loss-of-function mutations in KIAA1217 disrupt normal skeletal development. | ClinVar; OMIM #617075 |
| Lung adenocarcinoma | Reduced expression of KIAA1217 may contribute to tumor progression. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.7 | Low |
| Adrenal gland | 6.2 | Low |
| Brain | 4.1 | Low |
| Liver | 2.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.8 | Low expression |
| HeLa (cervical carcinoma) | 3.2 | Not detected |
| MCF7 (breast carcinoma) | 7.1 | Low expression |
| K562 (leukemia) | 1.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with skeletal dysplasia |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; associated with skeletal dysplasia |
| c.890A>G (p.Gln297Arg) | Missense | 0.02% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature termination and loss of protein function, linked to skeletal dysplasia.
Gain of Function (GOF)
No evidence of gain-of-function mutations in KIAA1217.
Dominant Negative (DN)
No evidence of dominant-negative mutations in KIAA1217.
View complete mutation data：
Gene Ontology (GO)
| • cellular_component: cytoplasm | • molecular_function: protein binding |
| • biological_process: skeletal system development |
Pathways
• Not assigned to any curated pathway.
Protein Summary
The KIAA1217 protein (UniProt Q5VWQ8) is 1,217 amino acids long with no characterized domains. It is predicted to localize to the cytoplasm and may interact with other proteins. Its exact function remains unknown, but it is essential for normal skeletal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIAA1217 Knockout HEK293 Cell Line | EDJ-KQ13924 | Human | 56243 | Details Get a Quote |
| KIAA1217 Knockout A-549 Cell Line | EDJ-KQ43797 | Human | 56243 | Details Get a Quote |
| KIAA1217 Knockout HCT 116 Cell Line | EDJ-KQ43798 | Human | 56243 | Details Get a Quote |
| KIAA1217 Knockout HeLa Cell Line | EDJ-KQ43799 | Human | 56243 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
