KCTD19
Potassium Channel Tetramerization Domain Containing 19
Gene Information Card
| Symbol | KCTD19 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 146212 ncbi.nlm.nih.gov/gene/146212 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q6ZWB6 |
| OMIM ID | 617577 |
| HGNC ID | 28463 |
| Aliases | FLJ32709, MGC35169 |
Description
KCTD19 (Potassium Channel Tetramerization Domain Containing 19) is a protein-coding gene located on chromosome 16q23.1. The encoded protein contains a BTB/POZ domain and is involved in spermatogenesis. KCTD19 is predominantly expressed in testis and is essential for male fertility. Mutations in KCTD19 have been associated with non-obstructive azoospermia and spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia | Loss-of-function mutations impair spermatogenesis | PMID: 31474318 |
| Spermatogenic failure | Disruption of meiotic progression | PMID: 31474318 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Brain | 0.5 | Low |
| Lung | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (Sertoli cells) | 30.2 | High expression |
| Testis (spermatocytes) | 25.1 | High expression |
| HEK293 | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | Rare | Loss of function |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of spermatogenesis function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • spermatogenesis (GO:0007283) | • identical protein binding (GO:0042802) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
Protein Summary
The KCTD19 protein contains a BTB/POZ domain and is localized to the nucleus. It is involved in transcriptional regulation during spermatogenesis. The protein interacts with other KCTD family members and is essential for meiotic progression in male germ cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD19 Knockout HEK293 Cell Line | EDJ-KQ10467 | Human | 146212 | Details Get a Quote |
| KCTD19 Knockout HeLa Cell Line | EDJ-KQ58537 | Human | 146212 | Details Get a Quote |
| KCTD19 Knockout A-549 Cell Line | EDJ-KQ67028 | Human | 146212 | Details Get a Quote |
| KCTD19 Knockout HCT 116 Cell Line | EDJ-KQ75428 | Human | 146212 | Details Get a Quote |
