UBAP2L

Chr 1q21.3

ubiquitin associated protein 2 like

Aliases:: NICE-4, KIAA0144
MANE:: ENST00000428931.6

OMIM: 616472 ↗NCBI: 9898 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UBAP2L · Q14157

v62025-08-01

Predicted Aligned Error matrix for UBAP2L — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

42.8/ 100

Very low

1,087 residues

Confidence breakdown

Very high(≥ 90)4%
Confident(70–90)2%
Low(50–70)11%
Very low(< 50)84%

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
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
0.65
neurodegenerative disease
0.49
Neurodevelopmental abnormality
0.34
neurodevelopmental disorder
0.22
smoking initiation
0.20
atrial fibrillation
0.15
substance abuse
0.14
attention deficit-hyperactivity disorder
0.14
Global developmental delay
0.11
hepatocellular carcinoma
0.10

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

Protein function (UniProt)

Ubiquitin-associated protein 2-like

Recruits the ubiquitination machinery to RNA polymerase II for polyubiquitination, removal and degradation, when the transcription-coupled nucleotide excision repair (TC-NER) machinery fails to resolve DNA damage (PubMed:35633597). Plays an important role in the activity of long-term repopulating hematopoietic stem cells (LT-HSCs) (By similarity). Is a regulator of stress granule assembly, required for their efficient formation (PubMed:29395067, PubMed:35977029). Required for proper brain development and neocortex lamination (By similarity)