TRPV6 Chromosome 7
Transient receptor potential cation channel subfamily V member 6
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What This Gene Does
This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
Gene Info
Gene Group
"Transient receptor potential cation channels|Ankyrin repeat domain containing"
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000165125
Associated Conditions (10)
Hyperparathyroidism
transient neonatal
Malignant tumor of urinary bladder
Clear cell carcinoma of kidney
Sarcoma
Ovarian serous cystadenocarcinoma
Cervical cancer
Slender long bone
Embryonic calcium dysregulation
Metaphyseal fractures
Key Variants
RS1327315227
Conflicting classifications of pathogenicity
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
RS151308770
Conflicting classifications of pathogenicity
Malignant tumor of urinary bladder, Clear cell carcinoma of kidney, Sarcoma
Health Risk
RS529924080
Conflicting classifications of pathogenicity
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
RS1266068657
Likely pathogenic
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
RS1281361203
Likely pathogenic
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
RS1586190048
Likely pathogenic
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
RS2486212016
Likely pathogenic
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
RS750624044
Likely pathogenic
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
RS755916513
Likely pathogenic
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
RS759393722
Likely pathogenic
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
RS780306040
Likely pathogenic
Slender long bone, Hyperparathyroidism, Embryonic calcium dysregulation
Health Risk
RS1200458339
Pathogenic
Hyperparathyroidism, transient neonatal, Hyperparathyroidism
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1327315227 | Health Risk | Conflicting classifications of pathogenicity | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS151308770 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of urinary bladder, Clear cell carcinoma of kidney, Sarcoma |
| RS529924080 | Health Risk | Conflicting classifications of pathogenicity | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS1266068657 | Health Risk | Likely pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS1281361203 | Health Risk | Likely pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS1586190048 | Health Risk | Likely pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS2486212016 | Health Risk | Likely pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS750624044 | Health Risk | Likely pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS755916513 | Health Risk | Likely pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS759393722 | Health Risk | Likely pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS780306040 | Health Risk | Likely pathogenic | Slender long bone, Hyperparathyroidism, Embryonic calcium dysregulation |
| RS1200458339 | Health Risk | Pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS1342435095 | Health Risk | Pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |
| RS2486203523 | Health Risk | Pathogenic | — |
| RS766719790 | Health Risk | Pathogenic | Hyperparathyroidism, transient neonatal, Hyperparathyroidism |