Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
NKX2-2 - NK2 homeobox 2
Function
Transcriptional activator involved in the development of insulin-producting beta cells in the endocrine pancreas (By similarity). May also be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Binds to elements within the NEUROD1 promoter (By similarity).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 4821 | ENSG00000125820 | NKX2-2 | O95096 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000125820 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-02000 | PCDH9 | up-regulates | NKX2-2 | represses | R-3293 | 17 | 5 | Drugs (4) |
| CMF-02003 | PCDH9 | up-regulates | NKX2-2 | represses | R-3291 | 17 | 5 | Drugs (4) Regulator Drugs (0)Regulon Drugs (4)DICHLORPHENAMIDE, SULTHIAME, ACETAZOLAMIDE, ACETAZOLAMIDE SODIUM |
| CMF-04607 | LAMC3 | up-regulates | NKX2-2 | represses | R-3293 | 17 | 6 | Drugs (4) |
| CMF-05259 | C6orf170 | up-regulates | NKX2-2 | activates | R-3289 | 17 | 4 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-05720 | FAT2 | down-regulates | NKX2-2 | activates | R-3289 | 17 | 5 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-05830 | SYNE2 | down-regulates | NKX2-2 | activates | R-3289 | 17 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-07698 | PLCXD3 | up-regulates | NKX2-2 | represses | R-3291 | 17 | 3 | Drugs (4) Regulator Drugs (0)Regulon Drugs (4)DICHLORPHENAMIDE, SULTHIAME, ACETAZOLAMIDE, ACETAZOLAMIDE SODIUM |
| CMF-10451 | ADAMTS10 | up-regulates | NKX2-2 | activates | R-3292 | 17 | 1 | Drugs (10) Regulator Drugs (0)Regulon Drugs (10)AMG-780, MEDI-3617, ENIBARCIMAB, F16SIP 131I, TREBANANIB, F16IL2, VANUCIZUMAB, FARICIMAB, CVX-060, NESVACUMAB |
| CMF-14682 | MYO1A | up-regulates | NKX2-2 | represses | R-3291 | 17 | 1 | Drugs (4) Regulator Drugs (0)Regulon Drugs (4)DICHLORPHENAMIDE, SULTHIAME, ACETAZOLAMIDE, ACETAZOLAMIDE SODIUM |
| CMF-16264 | USP11 | up-regulates | NKX2-2 | represses | R-3291 | 17 | 4 | Drugs (4) Regulator Drugs (0)Regulon Drugs (4)DICHLORPHENAMIDE, SULTHIAME, ACETAZOLAMIDE, ACETAZOLAMIDE SODIUM |
| CMF-17356 | CDKL5 | up-regulates | NKX2-2 | represses | R-3293 | 17 | 2 | Drugs (4) |
| CMF-18096 | DLGAP2 | up-regulates | NKX2-2 | activates | R-3292 | 17 | 2 | Drugs (10) Regulator Drugs (0)Regulon Drugs (10)AMG-780, MEDI-3617, ENIBARCIMAB, F16SIP 131I, TREBANANIB, F16IL2, VANUCIZUMAB, FARICIMAB, CVX-060, NESVACUMAB |
| CMF-18675 | CHRND | up-regulates | NKX2-2 | activates | R-3289 | 17 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-20636 | ABCD2 | down-regulates | NKX2-2 | activates | R-3289 | 17 | 3 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-21193 | ATM | up-regulates | NKX2-2 | activates | R-3292 | 17 | 2 | Drugs (10) Regulator Drugs (0)Regulon Drugs (10)AMG-780, MEDI-3617, ENIBARCIMAB, F16SIP 131I, TREBANANIB, F16IL2, VANUCIZUMAB, FARICIMAB, CVX-060, NESVACUMAB |
| CMF-24170 | HEATR5A | up-regulates | NKX2-2 | activates | R-3292 | 17 | 1 | Drugs (10) Regulator Drugs (0)Regulon Drugs (10)AMG-780, MEDI-3617, ENIBARCIMAB, F16SIP 131I, TREBANANIB, F16IL2, VANUCIZUMAB, FARICIMAB, CVX-060, NESVACUMAB |
| CMF-25836 | CD163 | up-regulates | NKX2-2 | represses | R-3293 | 17 | 2 | Drugs (4) |
| CMF-27729 | FAM83H | up-regulates | NKX2-2 | represses | R-3293 | 17 | 3 | Drugs (4) |
| CMF-27731 | FAM83H | up-regulates | NKX2-2 | represses | R-3291 | 17 | 3 | Drugs (4) Regulator Drugs (0)Regulon Drugs (4)DICHLORPHENAMIDE, SULTHIAME, ACETAZOLAMIDE, ACETAZOLAMIDE SODIUM |
| CMF-28247 | REPIN1 | down-regulates | NKX2-2 | represses | R-3293 | 17 | 2 | Drugs (4) |