2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
20PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingprotein transport along microtubuleduodenitisarthritissyndromic intellectual disabilityAlzheimer disease
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.
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: 348820912
FHIP2A interacts with Rab1 in a membrane-dependent manner and functions as a dynein adaptor for ER-Golgi intermediate compartment recruitment
PMID: 41493270β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
syndromic intellectual disabilityOpen Targets
Alzheimer diseaseOpen Targets
retinitis pigmentosaOpen Targets
hyperostosis corticalis generalisataOpen Targets
cone-rod synaptic disorder syndrome, congenital nonprogressiveOpen Targets
Early-onset X-linked optic atrophyOpen Targets
optic atrophy 2Open Targets
Leber hereditary optic neuropathyOpen Targets
risk-taking behaviourOpen Targets
tooth diseaseOpen Targets
Intellectual disabilityOpen Targets
triple-negative breast cancerOpen Targets
systemic juvenile idiopathic arthritisOpen Targets
ulcerative colitisOpen Targets
NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter)Likely pathogenic
Syndromic intellectual disability
ββββ2019β Residue 39