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
RS1554194287	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554210066	Health Risk	Pathogenic	PHIP-related disorder, PHIP-related disorder
RS1554212744	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562114190	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562127631	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562128924	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562134961	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562150844	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562189451	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562203136	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1582082104	Health Risk	Pathogenic	—
RS1582111930	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1582164609	Health Risk	Pathogenic	—
RS1582180665	Health Risk	Pathogenic	PHIP-related disorder, PHIP-related disorder
RS1766794792	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1767411335	Health Risk	Pathogenic	—
RS1767424632	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1769197412	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1770802469	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1771354257	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1774283406	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127683593	Health Risk	Pathogenic	Schizophrenia, Schizophrenia
RS2127690980	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127691868	Health Risk	Pathogenic	See cases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, See cases
RS2127721830	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2127748476	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481766143	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2481797579	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481832989	Health Risk	Pathogenic	—
RS2481833141	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481866114	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481866319	Health Risk	Pathogenic	—
RS2481878430	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481963256	Health Risk	Pathogenic	PHIP-related disorder, PHIP-related disorder
RS2481974697	Health Risk	Pathogenic	—
RS2482006049	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482046568	Health Risk	Pathogenic	—
RS2482068501	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482077737	Health Risk	Pathogenic	—
RS2482131737	Health Risk	Pathogenic	—
RS2482185944	Health Risk	Pathogenic	—
RS2482188475	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482188501	Health Risk	Pathogenic	—
RS2482189571	Health Risk	Pathogenic	—
RS2482350552	Health Risk	Pathogenic	—
RS565098856	Health Risk	Pathogenic	Early onset severe obesity, Early onset severe obesity
RS756993002	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS774075356	Health Risk	Pathogenic	—
RS961624298	Health Risk	Pathogenic	—
RS1064796868	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

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