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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALL3
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Burkitt`s lymphoma Burkitt Lymphoma rs28933407, rs121918683, rs121918684 22578776, 17179230, 24013638, 21962897
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29695241
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
29695241
Lymphoblastic leukemia Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor B-cell lymphoblastic leukemia, LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3, Precursor B-cell acute lymphoblastic leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699
View all (13 more)
26214592, 24013638, 30643249, 17179230, 21962897, 22578776
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 27479909, 29662059, 30718901 ClinVar
Lymphoblastic Leukemia leukemia, acute lymphoblastic, susceptibility to, 3 SIRT1 sensitized ALL cells to panobinostat through activation of the mitochondrial apoptosis pathway GenCC, CBGDA
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Bipolar Disorder Bipolar Disorder GWAS
Associations from Text Mining
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