PHIP Chromosome 6
PHIP subunit of CUL4-Ring ligase complex
Upload your DNA to see your personal genotypes for variants in PHIP.
What This Gene Does
This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
Bromodomain and WD repeat domain containing
Locus Type
gene with protein product
Location
6q14.1
Ensembl
ENSG00000146247
Associated Conditions (12)
PHIP-related disorder
Early onset severe obesity
Inborn genetic diseases
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Intellectual disability
X-linked 102
Rare genetic intellectual disability
See cases
Neurodevelopmental delay
Schizophrenia
Colorectal cancer
Syndromic intellectual disability
Key Variants
RS1216420598
Conflicting classifications of pathogenicity
PHIP-related disorder, Early onset severe obesity, PHIP-related disorder
Health Risk
RS1258760779
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1369466541
Conflicting classifications of pathogenicity
Health Risk
RS147542012
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149110742
Conflicting classifications of pathogenicity
Health Risk
RS1554193405
Conflicting classifications of pathogenicity
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Health Risk
RS1771389382
Conflicting classifications of pathogenicity
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Health Risk
RS1774230017
Conflicting classifications of pathogenicity
Health Risk
RS200004724
Conflicting classifications of pathogenicity
Inborn genetic diseases, PHIP-related disorder, Inborn genetic diseases
Health Risk
RS200020269
Conflicting classifications of pathogenicity
Inborn genetic diseases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases
Health Risk
RS202187736
Conflicting classifications of pathogenicity
Inborn genetic diseases, PHIP-related disorder, Inborn genetic diseases
Health Risk
RS2482046323
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (166)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1216420598 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related disorder, Early onset severe obesity, PHIP-related disorder |
| RS1258760779 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1369466541 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147542012 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149110742 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1554193405 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1771389382 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1774230017 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200004724 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PHIP-related disorder, Inborn genetic diseases |
| RS200020269 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases |
| RS202187736 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PHIP-related disorder, Inborn genetic diseases |
| RS2482046323 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2482078362 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS2482078406 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS372154191 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS373292877 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376750610 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS563243550 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases, PHIP-related disorder |
| RS567684136 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS747312156 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PHIP-related disorder, Inborn genetic diseases |
| RS748247534 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Intellectual disability, X-linked 102 |
| RS751404890 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related disorder, PHIP-related disorder |
| RS752534420 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753967999 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS754764007 | Health Risk | Conflicting classifications of pathogenicity | Rare genetic intellectual disability, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Rare genetic intellectual disability |
| RS755306887 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756471447 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS765827406 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS767093546 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS767618585 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PHIP-related disorder, Inborn genetic diseases |
| RS771336256 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775026712 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PHIP-related disorder, Inborn genetic diseases |
| RS776162259 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS778338346 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related disorder, Inborn genetic diseases, PHIP-related disorder |
| RS778714691 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS944956263 | Health Risk | Conflicting classifications of pathogenicity | PHIP-related disorder, PHIP-related disorder |
| RS1057518337 | Health Risk | Likely pathogenic | — |
| RS1085307845 | Health Risk | Likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1131691771 | Health Risk | Likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1270288366 | Health Risk | Likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1363133370 | Health Risk | Likely pathogenic | — |
| RS1554198312 | Health Risk | Likely pathogenic | — |
| RS1562171209 | Health Risk | Likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1562217773 | Health Risk | Likely pathogenic | — |
| RS1582175173 | Health Risk | Likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1582206547 | Health Risk | Likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1766898088 | Health Risk | Likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1769694196 | Health Risk | Likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1770032894 | Health Risk | Likely pathogenic | — |
| RS1770803533 | Health Risk | Likely pathogenic | — |