MOCS2

Chr 5q11.2

molybdenum cofactor synthesis 2

Aliases:: MOCO1, MOCS2A, MOCS2B
MANE:: ENST00000396954.8

OMIM: 603708 ↗NCBI: 4338 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MOCS2 · O96007

v62025-08-01

Predicted Aligned Error matrix for MOCS2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.0/ 100

Confident

188 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)3%
Low(50–70)16%
Very low(< 50)13%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
0.80
sulfite oxidase deficiency due to molybdenum cofactor deficiency
0.67
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
0.46
encephalopathy due to sulfite oxidase deficiency
0.37
liver disorder
0.35
acne
0.30
schizophrenia
0.27
autism spectrum disorder
0.27
major depressive disorder
0.27
anorexia nervosa
0.27

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

Protein function (UniProt)

Molybdopterin synthase catalytic subunit

Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group (By similarity) (PubMed:12732628, PubMed:15073332, PubMed:25709896). Together with MBIP, inhibits the activity of stress kinase EIF2AK2/PKR; this may suppress JNK activation and subsequent stress-responsive transcription, or suppress eIF2a phosphorylation to favor translation (PubMed:26705305)

Curated MONDO disease pages that list MOCS2 among their top associated genes.

liver disorderRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with MOCS2