HR

Chr 8p21.3

HR lysine demethylase and nuclear receptor corepressor

Aliases:: KDM3D, AU
MANE:: ENST00000381418.9

OMIM: 602302 ↗NCBI: 55806 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

HR · O43593

v62025-08-01

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

Mean pLDDT

55.2/ 100

Low

1,189 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)17%
Low(50–70)9%
Very low(< 50)55%

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Non-syndromic hypotrichosis
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

atrichia with papular lesions
0.74
alopecia universalis congenita
0.73
Alopecia universalis
0.65
hypotrichosis 4
0.63
Marie Unna hereditary hypotrichosis
0.40
hereditary disease
0.19
peripheral neuropathy
0.18
inflammatory bowel disease
0.18
syringocystadenoma papilliferum
0.11
Alopecia-intellectual disability syndrome
0.11

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

Protein function (UniProt)

Lysine-specific demethylase hairless

Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle