PBX1 Chromosome 1
PBX homeobox 1
Upload your DNA to see your personal genotypes for variants in PBX1.
What This Gene Does
This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]
Gene Info
Gene Group
TALE class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000185630
Associated Conditions (9)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss
abnormal ears
or developmental delay
PBX1-related intellectual disability and pleiotropic developmental defects
Inborn genetic diseases
PBX1-related disorder
Familial pancreatic carcinoma
Autism spectrum disorder
See cases
Key Variants
RS1218945005
Conflicting classifications of pathogenicity
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
RS1553248112
Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
RS1558020021
Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
RS1571217834
Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
RS1571431063
Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
RS1571445295
Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
RS1668978337
Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
RS1669419321
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1669421181
Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
RS1669636373
Likely pathogenic
Health Risk
RS2101688490
Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
RS2102319647
Likely pathogenic
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1218945005 | Health Risk | Conflicting classifications of pathogenicity | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1553248112 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1558020021 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1571217834 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1571431063 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1571445295 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1668978337 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1669419321 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1669421181 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1669636373 | Health Risk | Likely pathogenic | — |
| RS2101688490 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2102319647 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2102336635 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2525298952 | Health Risk | Likely pathogenic | PBX1-related disorder, PBX1-related disorder |
| RS2525299908 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2526809677 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2526810620 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2526855331 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2526855476 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS773334722 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1259895025 | Health Risk | Pathogenic | PBX1-related disorder, Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears |
| RS1553247020 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1553247028 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1553248075 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1553248081 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1553248110 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1553249136 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1553249146 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1571416477 | Health Risk | Pathogenic | — |
| RS1571416623 | Health Risk | Pathogenic | — |
| RS1571431145 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS1668981132 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2101678386 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2101678623 | Health Risk | Pathogenic | — |
| RS2102302158 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2102336603 | Health Risk | Pathogenic | — |
| RS2525299549 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2526809998 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2526810325 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2526881783 | Health Risk | Pathogenic | — |
| RS544057798 | Health Risk | Pathogenic | See cases, Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears |
| RS763332823 | Health Risk | Pathogenic | — |
| RS866426234 | Health Risk | Pathogenic | — |
| RS1423937629 | Health Risk | Pathogenic/Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2102302170 | Health Risk | Pathogenic/Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2102319548 | Health Risk | Pathogenic/Likely pathogenic | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| RS2102345680 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, PBX1-related disorder, Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss |
| RS2102345684 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears |