PHIP pleckstrin homology domain interacting protein
Gene ID: 55023, updated on 3-Apr-2024Gene type: protein coding
Also known as: ndrp; BRWD2; DIDOD; WDR11; DCAF14; CHUJANS
- See all available tests in GTR for this gene
- Go to complete Gene record for PHIP
- Go to Variation Viewer for PHIP variants
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]
Associated conditions
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-04-13) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-04-13) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 6q14.1
- Sequence:
- Chromosome: 6; NC_000006.12 (78934419..79078254, complement)
- Total number of exons:
- 41
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PHIP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PHIP@LOVD
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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