Detailed information for PEX2
Basic information
| Official symbol | PEX2 |
|---|---|
| Official full name | peroxisomal biogenesis factor 2 |
| Location | 8q21.1 |
| Gene type | protein-coding |
| Synonyms | PAF1|PBD5A|PBD5B|PMP3|PMP35|PXMP3|RNF72|ZWS3 |
| Quick links | Entrez ID:5828; HGNC:9717; MIM:170993; Ensembl:ENSG00000164751; HPRD:01367; Vega:OTTHUMG00000164530 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0044707 | single-multicellular organism process | 5612 | 143 | 69.81 | 2.05 | 9.21e-29 | 7.72e-27 |
| GO:0032501 | multicellular organismal process | 5644 | 143 | 70.21 | 2.04 | 1.83e-28 | 1.43e-26 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Peroxisome | KEGG | 79 | 5 | 0.36 | 14.07 | 3.01e-05 | 0.0002 |
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|
| Hsapiens_Module_463 | 13 | 2 | 0.13 | 14.98 | 0.0076 | 0.0304 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr8 | 77891493 | 77913524 | 614866 | Peroxisome biogenesis disorder 5A (Zellweger) | 3 | 170993 | 8q21.11 |
| chr8 | 77891493 | 77913524 | 614867 | Peroxisome biogenesis disorder 5B | 3 | 170993 | 8q21.11 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0003631 | nervous system phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0005367 | renal/urinary system phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0005370 | liver/biliary system phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0005376 | homeostasis/metabolism phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0005378 | growth/size phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0005379 | endocrine/exocrine gland phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0005380 | embryogenesis phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0005382 | craniofacial phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0005386 | behavior/neurological phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0005390 | skeleton phenotype |
| chr8 | 77891493 | 77913524 | 5828 | Pex2 | MGI:107486 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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