UBA2

Chr 19q13.11

ubiquitin like modifier activating enzyme 2

Aliases:: FLJ13058, HRIHFB2115
MANE:: ENST00000246548.9

OMIM: 613295 ↗NCBI: 10054 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

UBA2 · Q9UBT2

v62025-08-01

Predicted Aligned Error matrix for UBA2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.3/ 100

Confident

640 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)18%
Low(50–70)4%
Very low(< 50)12%

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, NOT imprinted
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies cancer susceptibility
Other

Disease associations (Open Targets)

ACCES syndrome
0.78
split hand-foot malformation
0.56
aplasia cutis congenita
0.56
neurodegenerative disease
0.54
Ectrodactyly
0.49
Split hand-split foot malformation
0.49
hereditary disease
0.47
split hand or/and split foot malformation
0.46
19q13.11 microdeletion syndrome
0.34
chromosome 19q13.11 deletion syndrome
0.34

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

Protein function (UniProt)

SUMO-activating enzyme subunit 2

The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2