PAX5

Chr 9p13.2

paired box 5

Aliases:: BSAP, PAX-5
MANE:: ENST00000358127.9

OMIM: 167414 ↗NCBI: 5079 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PAX5 · Q02548

v62025-08-01

Predicted Aligned Error matrix for PAX5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.2/ 100

Low

391 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)9%
Low(50–70)16%
Very low(< 50)47%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

leukemia, acute lymphoblastic, susceptibility to, 3
0.60
acute lymphoblastic leukemia
0.59
neurodegenerative disease
0.51
neurodevelopmental disorder
0.49
major depressive disorder
0.48
hereditary disease
0.45
prostate adenocarcinoma
0.41
insomnia
0.40
bipolar disorder
0.39
B-cell acute lymphoblastic leukemia
0.37

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

Protein function (UniProt)

Paired box protein Pax-5

Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage (PubMed:10811620, PubMed:27181361). Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes (PubMed:10811620, PubMed:27181361). In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signaling and promotes development to the mature B-cell stage (PubMed:32612238). Repression of the cohesin-release factor WAPL causes global changes of the chromosomal architecture in pro-B cells to facilitate the generation of a diverse antibody repertoire (PubMed:32612238)