STRA6 Chromosome 15
Signaling receptor and transporter of retinol STRA6
Upload your DNA to see your personal genotypes for variants in STRA6.
What This Gene Does
The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Solute carrier family 69
Locus Type
gene with protein product
Location
15q24.1
Ensembl
ENSG00000137868
Associated Conditions (11)
Matthew-Wood syndrome
STRA6-related disorder
Inborn genetic diseases
Cervical cancer
Gastric cancer
Lung cancer
Microphthalmia
Malignant tumor of esophagus
Anophthalmia-microphthalmia syndrome
isolated
with coloboma 8
Key Variants
RS116753967
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, Matthew-Wood syndrome
Health Risk
RS139450204
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, STRA6-related disorder, Matthew-Wood syndrome
Health Risk
RS139775570
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, Matthew-Wood syndrome
Health Risk
RS141477248
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, Matthew-Wood syndrome
Health Risk
RS142089943
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, STRA6-related disorder, Matthew-Wood syndrome
Health Risk
RS147428518
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, Matthew-Wood syndrome
Health Risk
RS150860532
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, Matthew-Wood syndrome
Health Risk
RS180889966
Conflicting classifications of pathogenicity
Inborn genetic diseases, Matthew-Wood syndrome, STRA6-related disorder
Health Risk
RS201730717
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, STRA6-related disorder, Gastric cancer
Health Risk
RS202174410
Conflicting classifications of pathogenicity
Inborn genetic diseases, Matthew-Wood syndrome, STRA6-related disorder
Health Risk
RS568924861
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, Matthew-Wood syndrome
Health Risk
RS886051474
Conflicting classifications of pathogenicity
Matthew-Wood syndrome, Matthew-Wood syndrome
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116753967 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS139450204 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, STRA6-related disorder, Matthew-Wood syndrome |
| RS139775570 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS141477248 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS142089943 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, STRA6-related disorder, Matthew-Wood syndrome |
| RS147428518 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS150860532 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS180889966 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Matthew-Wood syndrome, STRA6-related disorder |
| RS201730717 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, STRA6-related disorder, Gastric cancer |
| RS202174410 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Matthew-Wood syndrome, STRA6-related disorder |
| RS568924861 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS886051474 | Health Risk | Conflicting classifications of pathogenicity | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS1173479131 | Health Risk | Likely pathogenic | — |
| RS118203958 | Health Risk | Likely pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS1555457882 | Health Risk | Likely pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS2142004122 | Health Risk | Likely pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS397514639 | Health Risk | Likely pathogenic | Matthew-Wood syndrome, STRA6-related disorder, Matthew-Wood syndrome |
| RS606231127 | Health Risk | Likely pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS750864641 | Health Risk | Likely pathogenic | Microphthalmia, Microphthalmia |
| RS751838285 | Health Risk | Likely pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS759933321 | Health Risk | Likely pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS770136705 | Health Risk | Likely pathogenic | Malignant tumor of esophagus, Malignant tumor of esophagus |
| RS1064793275 | Health Risk | Pathogenic | — |
| RS118203961 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS1367215268 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS144691445 | Health Risk | Pathogenic | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS151341424 | Health Risk | Pathogenic | Microphthalmia, isolated, with coloboma 8 |
| RS1555457919 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS1567177198 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS1595838712 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS2073763723 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS2073766224 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS2073803030 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS2074102664 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS267607096 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS372931895 | Health Risk | Pathogenic | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS397514638 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS397518484 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS570214336 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS606231125 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS606231126 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS794727153 | Health Risk | Pathogenic | — |
| RS869025269 | Health Risk | Pathogenic | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS118203960 | Health Risk | Pathogenic/Likely pathogenic | Matthew-Wood syndrome, STRA6-related disorder, Matthew-Wood syndrome |
| RS773297007 | Health Risk | Pathogenic/Likely pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |