PHIP - pleckstrin homology domain interacting protein Gene

Homo sapiens

Also known as ndrp; BRWD2; DIDOD; WDR11; DCAF14; CHUJANS

Gene ID: 55023 | Gene type: protein coding

About PHIP

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:78,934,419-79,078,254 (from NCBI)

This gene has 15 transcripts (splice variants), 134 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 13.2), endometrium (RPKM 7.1) and 25 other tissues.

Summary

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]

PHIP Products(1)

mRNA	Protein	Name
NM_017934.7	NP_060404.4	PH-interacting protein

PHIP Protein Structure

WD40

Bromodomain

0
300
600
900
1200
1500
1821 a.a.

Protein Preferred Names

Protein Names

PH-interacting protein

DDB1 and CUL4 associated factor 14

Related Diseases

Diseases

Alias

Chung-Jansen Syndrome

CHUJANS	Developmental Delay, Intellectual Disability, Obesity, And Dysmorphism
Didod	Developmental Delay, Intellectual Disability, Obesity, And Dysmorphic Features

Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome

Chung-Jansen Syndrome

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Syndromic Intellectual Disability

Schuurs-Hoeijmakers Syndrome

SHMS	Pacs1-Related Syndrome
Mrd17	Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Intellectual Developmental Disorder, Autosomal Dominant 17	Autosomal Dominant Intellectual Disability-17
Autosomal Dominant Mental Retardation 17	Pacs1 Syndrome
Mental Retardation, Autosomal Dominant 17

Metaphyseal Chondrodysplasia, Jansen Type

Metaphyseal Chondrodysplasia, Murk Jansen Type	Jansen'S Metaphyseal Chondrodysplasia
MCDJ	Murk Jansen Type Metaphyseal Chondrodysplasia
Jansen Type Metaphyseal Chondrodysplasia	Jansen Disease
Jansen Metaphyseal Chondrodysplasia	Jansen Metaphyseal Dysostosis
Metaphyseal Chondrodysplasia Murk Jansen Type	Chondrodysplasia, Metaphyseal, Murk Jansen Type

Phimosis

Tight Foreskin	Tight Frenulum
Congenital Phimosis

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-118716	PhIP		99.85%	Phase 1

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10436	PHIP Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PHIP	RGD	RGD:1564964
Canis familiaris	PHIP	VGNC	VGNC:44495
Macaca mulatta	PHIP	VGNC	VGNC:75803
Mus musculus	PHIP	MGD	MGI:1932404
Bos taurus	PHIP	VGNC	VGNC:32829
Felis catus	PHIP	VGNC	VGNC:64148
Others	PHIP	NCBI

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