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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FHIP2A
FHF complex subunit HOOK interacting protein 2A
Chromosome 10 Β· 10q25.3
NCBI Gene: 57700Ensembl: ENSG00000151553.16HGNC: HGNC:29320UniProt: Q5W0V3
20PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein transport along microtubuleduodenitisarthritissyndromic intellectual disabilityAlzheimer disease
✦AI Summary

Based on limited published evidence, FHIP2A is a FHF complex subunit required for proper nervous system functioning. FHIP2A functions as a dynein adaptor protein that mediates cargo transport along microtubules through protein-protein interactions 1. Specifically, FHIP2A assembles with FTS and Hook2 to form complexes that colocalize with Rab1A-tagged ER-to-Golgi cargos and facilitate their microtubule-dependent motility 1. FHIP2A also interacts with Rab1 in a membrane-dependent manner to recruit dynein to the ER-Golgi intermediate compartment 2.

Sources cited
1
FHIP2A assembles with FTS and Hook2 to form cargo adaptor complexes that associate with Rab1A-tagged ER-to-Golgi cargos and facilitate their dynein-mediated microtubule transport
PMID: 34882091
2
FHIP2A interacts with Rab1 in a membrane-dependent manner and functions as a dynein adaptor for ER-Golgi intermediate compartment recruitment
PMID: 41493270
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
duodenitisOpen Targets
0.31Weak
arthritisOpen Targets
0.30Weak
syndromic intellectual disabilityOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.05Suggestive
retinitis pigmentosaOpen Targets
0.04Suggestive
hyperostosis corticalis generalisataOpen Targets
0.03Suggestive
cone-rod synaptic disorder syndrome, congenital nonprogressiveOpen Targets
0.03Suggestive
Early-onset X-linked optic atrophyOpen Targets
0.03Suggestive
optic atrophy 2Open Targets
0.03Suggestive
Leber hereditary optic neuropathyOpen Targets
0.03Suggestive
risk-taking behaviourOpen Targets
0.02Suggestive
tooth diseaseOpen Targets
0.02Suggestive
azoospermiaOpen Targets
0.01Suggestive
AtaxiaOpen Targets
0.01Suggestive
microcephalyOpen Targets
0.01Suggestive
Intellectual disabilityOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter)Likely pathogenic
Syndromic intellectual disability
β˜†β˜†β˜†β˜†2019β†’ Residue 39
View on ClinVar β†—
Related Genes
FHIP1AShared pathway50%FHIP1BShared pathway17%HOOK1Shared pathway13%HOOK2Shared pathway11%AKTIPShared pathway10%CLIP3Shared pathway10%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
45%
Lung
42%
Ovary
41%
Heart
38%
Brain
33%
Gene Interaction Network
Click a node to explore
FHIP2AFHIP1AFHIP1BHOOK1HOOK2AKTIPCLIP3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5W0V3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.67LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.49 [0.37–0.67]
RankingsWhere FHIP2A stands among ~20K protein-coding genes
  • #14,154of 20,598
    Most Researched20
  • #5,374of 5,498
    Most Pathogenic Variants1
  • #4,917of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedFHIP2A
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
A Rab1 interactome illuminates a dual role in autophagy and membrane trafficking.
PMID: 41493270
J Cell Biol Β· 2026
1.00
2
Cytoplasmic dynein-1 cargo diversity is mediated by the combinatorial assembly of FTS-Hook-FHIP complexes.
PMID: 34882091
Elife Β· 2021
0.50