Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5089 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
PBX homeobox 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PBX2 |
SynonymsGene synonyms aliases
|
G17, HOX12, PBX2MHC |
ChromosomeChromosome number
|
6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6p21.32 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P40425 |
Protein name |
Pre-B-cell leukemia transcription factor 2 (Homeobox protein PBX2) (Protein G17) |
Protein function |
Transcriptional activator that binds the sequence 5'-ATCAATCAA-3'. Activates transcription of PF4 in complex with MEIS1. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03792 |
PBC |
50 → 243 |
PBC domain |
Family |
PF00046 |
Homeodomain |
245 → 304 |
Homeodomain |
Domain |
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Sequence |
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Sequence length |
430 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
21804548 |
Age-related macular degeneration |
Age related macular degeneration |
rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475 |
26691988 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
17804836, 21156761 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
28540026 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Development disorder |
Child Development Disorders, Pervasive |
|
28540026 |
Exudative macular degeneration |
Exudative age-related macular degeneration, exudative macular degeneration |
|
26691988 |
Geographic atrophy |
Geographic Atrophy |
|
26691988 |
Hodgkin disease |
Hodgkin Disease |
|
24149102 |
Lupus erythematosus |
Lupus Erythematosus, Systemic |
|
24871463 |
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