HOXC13

Chr 12q13.13

homeobox C13

MANE:: ENST00000243056.5

OMIM: 142976 ↗NCBI: 3229 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

HOXC13 · P31276

v62025-08-01

Predicted Aligned Error matrix for HOXC13 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.3/ 100

Low

330 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)3%
Low(50–70)28%
Very low(< 50)52%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia without a known gene mutation
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pure hair and nail ectodermal dysplasia
0.68
hair color
0.47
tinea unguium
0.40
colorectal adenocarcinoma
0.37
nail anomaly
0.37
alopecia
0.32
dermatophytosis
0.31
breast carcinoma
0.30
lung adenocarcinoma
0.28
head and neck squamous cell carcinoma
0.28

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

Protein function (UniProt)

Homeobox protein Hox-C13

Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity)