HOXD13

Chr 2q31.1

homeobox D13

MANE:: ENST00000392539.4

OMIM: 142989 ↗NCBI: 3239 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

HOXD13 · P35453

v62025-08-01

Predicted Aligned Error matrix for HOXD13 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

55.3/ 100

Low

343 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)3%
Low(50–70)18%
Very low(< 50)63%

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
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
VACTERL-like phenotypes

Disease associations (Open Targets)

synpolydactyly type 1
0.79
brachydactyly-syndactyly syndrome
0.74
syndactyly type 5
0.74
Syndactyly type 2
0.72
brachydactyly type E1
0.71
brachydactyly type E
0.68
non-syndromic brachydactyly
0.66
brachydactyly
0.55
VACTERL/vater association
0.52
hereditary disease
0.50

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

Protein function (UniProt)

Homeobox protein Hox-D13

Sequence-specific transcription factor that binds gene promoters and activates their transcription (PubMed:24789103). Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis (By similarity)