PRDM13

Chr 6q16.2

PR/SET domain 13

Aliases:: PFM10
MANE:: ENST00000369215.5

OMIM: 616741 ↗NCBI: 59336 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PRDM13 · Q9H4Q3

v62025-08-01

Predicted Aligned Error matrix for PRDM13 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

52.2/ 100

Low

707 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)28%
Low(50–70)10%
Very low(< 50)61%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Differences in sex development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pontocerebellar hypoplasia, IIA 17
0.68
cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
0.65
North Carolina macular dystrophy
0.48
congenital hypogonadotropic hypogonadism
0.42
hereditary disease
0.42
Abnormality of the skeletal system
0.39
neurodegenerative disease
0.37
ovarian dysfunction
0.28
enuresis
0.20
skin disorder
0.20

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

Protein function (UniProt)

PR domain zinc finger protein 13

May be involved in transcriptional regulation. Is required for the differentiation of KISS1-expressing neurons in the arcuate (Arc) nucleus of the hypothalamus. Is a critical regulator of GABAergic cell fate in the cerebellum, required for normal postnatal cerebellar development (By similarity)