KIF7

Chr 15q26.1

kinesin family member 7

Aliases:: JBTS12
MANE:: ENST00000394412.8

OMIM: 611254 ↗NCBI: 374654 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

KIF7 · Q2M1P5

v62025-08-01

Predicted Aligned Error matrix for KIF7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.2/ 100

Low

1,343 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)44%
Low(50–70)10%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

acrocallosal syndrome
0.84
Joubert syndrome
0.73
multiple epiphyseal dysplasia, Al-Gazali type
0.71
hydrolethalus syndrome 2
0.70
Hydrolethalus
0.56
hereditary disease
0.50
autosomal recessive non-syndromic intellectual disability
0.47
Joubert syndrome with orofaciodigital defect
0.39
orofaciodigital syndrome type 6
0.38
orofacial cleft 1
0.34

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

Protein function (UniProt)

Kinesin-like protein KIF7

Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity)