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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PHYHIP
phytanoyl-CoA 2-hydroxylase interacting protein
Chromosome 8 · 8p21.3
NCBI Gene: 9796Ensembl: ENSG00000168490.15HGNC: HGNC:16865UniProt: Q92561
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein tyrosine kinase bindingintracellular protein localizationcytoplasmneurodegenerative diseaseglioblastoma multiformeAbruptio Placentaeatypical teratoid rhabdoid tumor
✦AI Summary

PHYHIP (phytanoyl-CoA 2-hydroxylase interacting protein) is a cytoplasmic and mitochondrial protein involved in central nervous system development through its interaction with PHYH 1. The protein localizes to multiple cellular compartments including the cytoplasm, mitochondria, and nucleoplasm, with demonstrated protein binding capabilities [GO annotations cited in 25]. Mechanistically, PHYHIP functions as a molecular target for active transport across the blood-brain barrier. Recent evidence demonstrates that PHYHIP-mediated delivery enhances neuroprotective signaling through the NRG1-ErbB4-AKT pathway while suppressing neuroinflammatory cascades via the cGAS-STING-NFκB axis 1. Additionally, PHYHIP serves regulatory functions in gene expression networks, as the PIWIL2 promoter acts as an enhancer for PHYHIP located 60kb upstream 3. Disease relevance spans multiple neurodevelopmental and neurodegenerative conditions. PHYHIP deletions are implicated in non-syndromic autism spectrum disorder 4, and differential methylation of PHYHIP is associated with Lewy body pathology in Parkinson's disease and dementia with Lewy bodies 5. PHYHIP expression changes are stage-specific in Parkinson's disease progression 6. The gene is also dysregulated in glioblastoma with prognostic significance 7, placental dysfunction in fetal growth restriction 8, and melanoma differentiation 9. These diverse roles suggest PHYHIP functions in neuroprotection, immune modulation, and cellular development across multiple pathological contexts.

Sources cited
1
PHYHIP is identified as a molecular target for active transport across the blood-brain barrier and mediates dual pathway modulation through NRG1-ErbB4-AKT and cGAS-STING-NFκB signaling in traumatic brain injury
PMID: 40785555
2
PIWIL2 alternative promoter functions as an enhancer for PHYHIP located 60kb upstream
PMID: 27248499
3
PHYHIP is identified as a potential gene for non-syndromic autism spectrum disorder based on 8p21.3 deletions
PMID: 33683518
4
Differential methylation near PHYHIP is associated with Lewy body pathology in Parkinson's disease and dementia with Lewy bodies
PMID: 35995800
5
PHYHIP is identified as a candidate gene with disease stage-specific expression changes in Parkinson's disease progression
PMID: 37347276
6
PHYHIP is one of six genes in a prognostic model for glioblastoma based on tumor microenvironment and immune infiltration
PMID: 40869909
7
PHYHIP is identified in a signature community distinguishing placentas with fetal growth restriction and hypertension from other obstetric conditions
PMID: 40826226
8
PHYHIP is selected as one of 23 genes in a transcriptomic biomarker distinguishing benign nevi from melanoma
PMID: 41042798
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.20Weak
glioblastoma multiformeOpen Targets
0.05Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.04Suggestive
medulloblastomaOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
childhood supratentorial ependymomaOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
adrenal cortex carcinomaOpen Targets
0.02Suggestive
lower urinary tract calculusOpen Targets
0.02Suggestive
oligodendrogliomaOpen Targets
0.02Suggestive
large cell medulloblastomaOpen Targets
0.02Suggestive
primitive neuroectodermal tumorOpen Targets
0.01Suggestive
rosaceaOpen Targets
0.01Suggestive
pituitary cancerOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
Refsum diseaseOpen Targets
0.01Suggestive
cutaneous lupus erythematosusOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AKAIN1Shared pathway100%STK11IPShared pathway100%TNS4Shared pathway100%PRR12Shared pathway100%ODR4Shared pathway100%AKAP10Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Ovary
7%
Heart
5%
Lung
1%
Liver
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
PHYHIPAKAIN1STK11IPTNS4PRR12ODR4AKAP10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92561
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.48Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.23 [0.12–0.48]
RankingsWhere PHYHIP stands among ~20K protein-coding genes
  • #15,350of 20,598
    Most Researched16
  • #2,794of 17,882
    Most Constrained (LOEUF)0.48 · top quartile
Genes detectedPHYHIP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Placental network differences among obstetric syndromes identified with an integrated multiomics approach.
PMID: 40826226
Commun Biol · 2025
1.00
2
Construction of a Genetic Prognostic Model in the Glioblastoma Tumor Microenvironment.
PMID: 40869909
Genes (Basel) · 2025
0.90
3
Intragenic Locus in Human PIWIL2 Gene Shares Promoter and Enhancer Functions.
PMID: 27248499
PLoS One · 2016
0.80
4
Phyhip-Targeted Delivery of bFGF Platform with Dual Modulation for Enhancing Neurovascular Repair in Traumatic Brain Injury.
PMID: 40785555
Adv Healthc Mater · 2025
0.70
5
Transcriptomic profiling of Parkinson's disease brains reveals disease stage specific gene expression changes.
PMID: 37347276
Acta Neuropathol · 2023
0.60