KIF5C

Chr 2q23.1-q23.2

kinesin family member 5C

Aliases:: NKHC2
MANE:: ENST00000435030.6

OMIM: 604593 ↗NCBI: 3800 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

KIF5C · O60282

v62025-08-01

Predicted Aligned Error matrix for KIF5C — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

957 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)56%
Low(50–70)7%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis

Disease associations (Open Targets)

Genetic central nervous system malformation
0.75
neurodegenerative disease
0.43
complex cortical dysplasia with other brain malformations
0.37
type 2 diabetes mellitus
0.28
cerebral cortical dysplasia
0.27
disturbances of sensation of smell and taste
0.27
placenta praevia
0.27
hypertensive disorder
0.23
complication
0.23
hereditary disease
0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Kinesin heavy chain isoform 5C

Microtubule-associated force-producing protein that may play a role in organelle transport. Has ATPase activity (By similarity). Involved in synaptic transmission (PubMed:24812067). Mediates dendritic trafficking of mRNAs (By similarity). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity)