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Gene id |
5076 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
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|
Gene Symbol |
PAX2 Gene UCSC Ensembl |
|
Aliases |
FSGS7, PAPRS |
|
Gene name |
paired box 2 |
|
Alternate names |
paired box protein Pax-2, paired box homeotic gene 2, |
|
Gene location |
10q24.31 (100735395: 100829943) Exons: 14 NC_000010.11
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|
Gene summary(Entrez) |
PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcrip
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|
OMIM |
167409 |
Protein Summary
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|
| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Henoch-Schonlein purpura | GAD: 16509931 |
| Alzheimer's disease | GAD: 16385451 |
| Endometriosis | INFBASE: 22473392 |
| Genital development | MIK: 11115062 |
| Cryptorchidism | MIK: 23686327 |
| Renal coloboma syndrome | KEGG: H01026 |
| Papillorenal syndrome | OMIM: 167409 |
| Glomerulosclerosis | OMIM: 167409 |
| Role in coordinating epididymal function | MIK: 24006278 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24006278 |
Role in co
ordinating
epididyma
l function
|
|
|
|
Male infertility |
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Show abstract |
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