PHIP Chromosome 6

PHIP subunit of CUL4-Ring ligase complex

166 variants 166 Health Risk

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

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

Health Risk

RS1771389382

Conflicting classifications of pathogenicity

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
RS1304822359	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases
RS1411448554	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554196416	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554196907	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554210073	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554210094	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1582100341	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1767406859	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1771386636	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1773798418	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS200788163	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder, Colorectal cancer
RS2127741566	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482428927	Health Risk	Pathogenic/Likely pathogenic	PHIP-related disorder, PHIP-related disorder
RS759380520	Health Risk	Pathogenic/Likely pathogenic	Syndromic intellectual disability, Syndromic intellectual disability
RS768324201	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases
RS771126523	Health Risk	Pathogenic/Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, See cases, PHIP-related disorder

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