Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5079
Gene name Gene Name - the full gene name approved by the HGNC.
Paired box 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PAX5
Synonyms (NCBI Gene) Gene synonyms aliases
ALL3, BSAP, PAX-5
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT614883 hsa-miR-153-5p HITS-CLIP 19536157
MIRT614877 hsa-miR-1305 HITS-CLIP 19536157
MIRT614876 hsa-miR-335-3p HITS-CLIP 19536157
MIRT555835 hsa-miR-6867-5p HITS-CLIP 21572407
MIRT555834 hsa-miR-4666a-5p HITS-CLIP 21572407
Transcription factors
Transcription factor Regulation Reference
TP53 Activation 21319196
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
167414 8619 ENSG00000196092
Protein
UniProt ID Q02548
Protein name Paired box protein Pax-5 (B-cell-specific transcription factor) (BSAP)
Protein function 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 activatin
PDB 1K78 , 1MDM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00292 PAX 16 140 Domain
PF12403 Pax2_C 279 390 Paired-box protein 2 C terminal Family
Sequence
Sequence length 391
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Transcriptional misregulation in cancer   RUNX1 regulates transcription of genes involved in BCR signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Leukemia Acute lymphoid leukemia N/A N/A ClinVar
Lymphoblastic Leukemia leukemia, acute lymphoblastic, susceptibility to, 3 N/A N/A ClinVar, GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32509861
Adrenocortical Carcinoma Associate 35929659
Arthritis Rheumatoid Associate 24213554
Ataxia Telangiectasia Associate 32366930
Autistic Disorder Associate 25418537
Bipolar Disorder Inhibit 17553960
Bone Diseases Metabolic Associate 25565391
Breast Neoplasms Associate 16837628, 20197384, 22765268, 28076843, 30792990, 37403081
Breast Neoplasms Male Associate 22765268
Bronchiolitis Obliterans Syndrome Associate 28851699