Detailed information for PANK2
Basic information
| Official symbol | PANK2 |
|---|---|
| Official full name | pantothenate kinase 2 |
| Location | 20p13 |
| Gene type | protein-coding |
| Synonyms | C20orf48|HARP|HSS|NBIA1|PKAN |
| Quick links | Entrez ID:80025; HGNC:15894; MIM:606157; Ensembl:ENSG00000125779; HPRD:OTTHUMG00000031768; Vega: |
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:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0043168 | anion binding | 2402 | 40 | 26.72 | 1.50 | 0.0048 | 0.0336 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr20 | 3868485 | 3905502 | 607236 | HARP syndrome | 3 | 606157 | 20p13 |
| chr20 | 3868485 | 3905502 | 234200 | Neurodegeneration with brain iron accumulation 1 | 3 | 606157 | 20p13 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0003631 | nervous system phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005367 | renal/urinary system phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005369 | muscle phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005370 | liver/biliary system phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005376 | homeostasis/metabolism phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005378 | growth/size phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005379 | endocrine/exocrine gland phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005384 | cellular phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005386 | behavior/neurological phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005387 | immune system phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005389 | reproductive system phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005391 | vision/eye phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0005397 | hematopoietic system phenotype |
| chr20 | 3868485 | 3905502 | 80025 | Pank2 | MGI:1921700 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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