MPDZ Chromosome 9
Multiple PDZ domain crumbs cell polarity complex component
Upload your DNA to see your personal genotypes for variants in MPDZ.
What This Gene Does
The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"PDZ domain containing|Crumbs complex components"
Locus Type
gene with protein product
Location
9p23
Ensembl
ENSG00000107186
Associated Conditions (6)
Inborn genetic diseases
MPDZ-related disorder
Hydrocephalus
nonsyndromic
autosomal recessive 2
Congenital hydrocephalus
Key Variants
RS1206985138
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139791147
Conflicting classifications of pathogenicity
Inborn genetic diseases, MPDZ-related disorder, Hydrocephalus
Health Risk
RS144992780
Conflicting classifications of pathogenicity
Inborn genetic diseases, MPDZ-related disorder, Inborn genetic diseases
Health Risk
RS148433683
Conflicting classifications of pathogenicity
Hydrocephalus, nonsyndromic, autosomal recessive 2
Health Risk
RS150393677
Conflicting classifications of pathogenicity
MPDZ-related disorder, Hydrocephalus, nonsyndromic
Health Risk
RS181479224
Conflicting classifications of pathogenicity
MPDZ-related disorder, MPDZ-related disorder
Health Risk
RS184213204
Conflicting classifications of pathogenicity
Hydrocephalus, nonsyndromic, autosomal recessive 2
Health Risk
RS184229465
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS188840960
Conflicting classifications of pathogenicity
MPDZ-related disorder, MPDZ-related disorder
Health Risk
RS191190036
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS192227753
Conflicting classifications of pathogenicity
Hydrocephalus, nonsyndromic, autosomal recessive 2
Health Risk
RS193284839
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (143)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554678324 | Health Risk | Likely pathogenic | — |
| RS1563840864 | Health Risk | Likely pathogenic | — |
| RS1586841546 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS1587783980 | Health Risk | Likely pathogenic | — |
| RS1942752972 | Health Risk | Likely pathogenic | — |
| RS1945141397 | Health Risk | Likely pathogenic | — |
| RS1951349487 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS1951383421 | Health Risk | Likely pathogenic | — |
| RS1959088978 | Health Risk | Likely pathogenic | — |
| RS1959174597 | Health Risk | Likely pathogenic | — |
| RS1959559533 | Health Risk | Likely pathogenic | — |
| RS2131668162 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS2133382439 | Health Risk | Likely pathogenic | — |
| RS2134192926 | Health Risk | Likely pathogenic | — |
| RS2493075833 | Health Risk | Likely pathogenic | — |
| RS2494469980 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS2497668341 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS2538474549 | Health Risk | Likely pathogenic | — |
| RS746360632 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS750355280 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS757886671 | Health Risk | Likely pathogenic | — |
| RS767539728 | Health Risk | Likely pathogenic | — |
| RS767669471 | Health Risk | Likely pathogenic | — |
| RS775394111 | Health Risk | Likely pathogenic | MPDZ-related disorder, Hydrocephalus, nonsyndromic |
| RS778600333 | Health Risk | Likely pathogenic | — |
| RS928594835 | Health Risk | Likely pathogenic | — |
| RS1220735820 | Health Risk | Pathogenic | — |
| RS1223873838 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1267168609 | Health Risk | Pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS1297645338 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1347266016 | Health Risk | Pathogenic | — |
| RS1362046514 | Health Risk | Pathogenic | — |
| RS1453829048 | Health Risk | Pathogenic | — |
| RS1490841403 | Health Risk | Pathogenic | — |
| RS1563886845 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1563948056 | Health Risk | Pathogenic | — |
| RS1564026963 | Health Risk | Pathogenic | — |
| RS1942945941 | Health Risk | Pathogenic | — |
| RS1947102571 | Health Risk | Pathogenic | — |
| RS1947104738 | Health Risk | Pathogenic | — |
| RS1956840371 | Health Risk | Pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS1958831021 | Health Risk | Pathogenic | — |
| RS1959180291 | Health Risk | Pathogenic | — |
| RS200131423 | Health Risk | Pathogenic | — |
| RS2131610068 | Health Risk | Pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS2133385585 | Health Risk | Pathogenic | — |
| RS2489784650 | Health Risk | Pathogenic | — |
| RS2490783211 | Health Risk | Pathogenic | — |
| RS2490785037 | Health Risk | Pathogenic | — |
| RS2493637951 | Health Risk | Pathogenic | — |