Paired box 6 (PAX6) Associated conditions: 1. Morning glory disc anomaly 2. Irido-corneo-trabecular dysgenesis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001368921.2 | NP_001355850.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001368908.2 | NP_001355837.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001368909.2 | NP_001355838.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001368910.2 | NP_001355839.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001368911.2 | NP_001355840.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001368912.2 | NP_001355841.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001368913.2 | NP_001355842.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001368914.2 | NP_001355843.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001368915.2 | NP_001355844.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_001368916.2 | NP_001355845.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_001368917.2 | NP_001355846.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 12 | REVIEWED | NM_001368918.2 | NP_001355847.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_001368919.2 | NP_001355848.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 14 | REVIEWED | NM_001368920.2 | NP_001355849.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 15 | REVIEWED | NM_001368907.2 | NP_001355836.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 16 | REVIEWED | NM_001368922.2 | NP_001355851.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 17 | REVIEWED | NM_001368923.2 | NP_001355852.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 18 | REVIEWED | NM_001368924.2 | NP_001355853.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 19 | REVIEWED | NM_001368925.2 | NP_001355854.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 20 | REVIEWED | NM_001368926.2 | NP_001355855.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 21 | REVIEWED | NM_001368927.2 | NP_001355856.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 22 | REVIEWED | NM_001368928.2 | NP_001355857.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 23 | REVIEWED | NM_001368929.2 | NP_001355858.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 24 | REVIEWED | NM_001368930.2 | NP_001355859.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 25 | REVIEWED | NM_001604.6 | NP_001595.2 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 26 | REVIEWED | NR_160916.2 | - | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 27 | REVIEWED | NR_160917.2 | - | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 28 | REVIEWED | NM_001368890.2 | NP_001355819.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 29 | REVIEWED | NM_001127612.3 | NP_001121084.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 30 | REVIEWED | NM_001258462.3 | NP_001245391.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 31 | REVIEWED | NM_001258463.2 | NP_001245392.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 32 | REVIEWED | NM_001258464.2 | NP_001245393.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 33 | REVIEWED | NM_001258465.3 | NP_001245394.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 34 | REVIEWED | NM_001310158.2 | NP_001297087.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 35 | REVIEWED | NM_001310159.1 | NP_001297088.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 36 | REVIEWED | NM_001310160.2 | NP_001297089.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 37 | REVIEWED | NM_001310161.3 | NP_001297090.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 38 | REVIEWED | NM_001368887.2 | NP_001355816.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 39 | REVIEWED | NM_001368888.2 | NP_001355817.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 40 | REVIEWED | NM_001368889.2 | NP_001355818.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 41 | REVIEWED | NM_000280.6 | NP_000271.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 42 | REVIEWED | NM_001368891.2 | NP_001355820.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 43 | REVIEWED | NM_001368892.2 | NP_001355821.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 44 | REVIEWED | NM_001368893.2 | NP_001355822.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 45 | REVIEWED | NM_001368894.2 | NP_001355823.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 46 | REVIEWED | NM_001368899.2 | NP_001355828.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 47 | REVIEWED | NM_001368900.2 | NP_001355829.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 48 | REVIEWED | NM_001368901.2 | NP_001355830.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 49 | REVIEWED | NM_001368902.2 | NP_001355831.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 50 | REVIEWED | NM_001368903.2 | NP_001355832.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 51 | REVIEWED | NM_001368904.2 | NP_001355833.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 52 | REVIEWED | NM_001368905.2 | NP_001355834.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 53 | REVIEWED | NM_001368906.2 | NP_001355835.1 | NC_000011.10 | (31789025..31817960, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Paired box 6 (PAX6) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Paired box 6 (PAX6)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | involved_in | negative regulation of transcription by RNA polymerase II | Process | - |
| 2 | Homo sapiens | ISS | involved_in | negative regulation of transcription by RNA polymerase II | Process | - |
| 3 | Homo sapiens | IDA | located_in | chromatin | Component | 20592023 |
| 4 | Homo sapiens | IEA | located_in | chromatin | Component | - |
| 5 | Homo sapiens | ISA | located_in | chromatin | Component | - |
| 6 | Homo sapiens | IEA | enables | transcription cis-regulatory region binding | Function | - |
| 7 | Homo sapiens | ISS | enables | transcription cis-regulatory region binding | Function | - |
| 8 | Homo sapiens | IBA | enables | RNA polymerase II cis-regulatory region sequence-specific DNA binding | Function | - |
| 9 | Homo sapiens | IDA | enables | RNA polymerase II cis-regulatory region sequence-specific DNA binding | Function | 20592023 24802670 |
| 10 | Homo sapiens | IEA | enables | RNA polymerase II cis-regulatory region sequence-specific DNA binding | Function | - |
| 11 | Homo sapiens | IEA | enables | RNA polymerase II core promoter sequence-specific DNA binding | Function | - |
| 12 | Homo sapiens | IBA | enables | DNA-binding transcription factor activity, RNA polymerase II-specific | Function | - |
| 13 | Homo sapiens | IDA | enables | DNA-binding transcription factor activity, RNA polymerase II-specific | Function | 20592023 |
| 14 | Homo sapiens | IEA | enables | DNA-binding transcription factor activity, RNA polymerase II-specific | Function | - |
| 15 | Homo sapiens | ISA | enables | DNA-binding transcription factor activity, RNA polymerase II-specific | Function | - |
| 16 | Homo sapiens | IEA | enables | transcription coregulator binding | Function | - |
| 17 | Homo sapiens | ISS | enables | transcription coregulator binding | Function | - |
| 18 | Homo sapiens | IEA | enables | DNA-binding transcription repressor activity, RNA polymerase II-specific | Function | - |
| 19 | Homo sapiens | IDA | enables | DNA-binding transcription activator activity, RNA polymerase II-specific | Function | 24802670 |
| 20 | Homo sapiens | IEA | enables | DNA-binding transcription activator activity, RNA polymerase II-specific | Function | - |
| 21 | Homo sapiens | IMP | involved_in | blood vessel development | Process | 7550230 |
| 22 | Homo sapiens | TAS | involved_in | eye development | Process | 10747901 |
| 23 | Homo sapiens | IBA | involved_in | type B pancreatic cell differentiation | Process | - |
| 24 | Homo sapiens | IEA | involved_in | pancreatic A cell development | Process | - |
| 25 | Homo sapiens | IMP | involved_in | pancreatic A cell development | Process | 20592023 |
| 26 | Homo sapiens | IEA | enables | DNA binding | Function | - |
| 27 | Homo sapiens | TAS | enables | DNA binding | Function | 10441571 |
| 28 | Homo sapiens | IEA | enables | chromatin binding | Function | - |
| 29 | Homo sapiens | IEA | enables | DNA-binding transcription factor activity | Function | - |
| 30 | Homo sapiens | TAS | enables | DNA-binding transcription factor activity | Function | 10441571 10747901 |
| 31 | Homo sapiens | IEA | enables | RNA binding | Function | - |
| 32 | Homo sapiens | IPI | enables | protein binding | Function | 16098226 21084637 32296183 |
| 33 | Homo sapiens | IBA | is_active_in | nucleus | Component | - |
| 34 | Homo sapiens | IDA | located_in | nucleus | Component | 17291498 |
| 35 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 36 | Homo sapiens | IDA | located_in | nucleoplasm | Component | - |
| 37 | Homo sapiens | IDA | located_in | cytoplasm | Component | 17291498 |
| 38 | Homo sapiens | IEA | involved_in | chromatin remodeling | Process | - |
| 39 | Homo sapiens | IEA | involved_in | regulation of DNA-templated transcription | Process | - |
| 40 | Homo sapiens | IBA | involved_in | regulation of transcription by RNA polymerase II | Process | - |
| 41 | Homo sapiens | IEA | involved_in | nervous system development | Process | - |
| 42 | Homo sapiens | IMP | involved_in | nervous system development | Process | 24802670 |
| 43 | Homo sapiens | IEA | involved_in | central nervous system development | Process | - |
| 44 | Homo sapiens | TAS | involved_in | central nervous system development | Process | 10747901 |
| 45 | Homo sapiens | IBA | involved_in | brain development | Process | - |
| 46 | Homo sapiens | IBA | involved_in | sensory organ development | Process | - |
| 47 | Homo sapiens | TAS | involved_in | visual perception | Process | 10441571 |
| 48 | Homo sapiens | IEP | involved_in | response to wounding | Process | 17982423 |
| 49 | Homo sapiens | IEA | involved_in | anatomical structure morphogenesis | Process | - |
| 50 | Homo sapiens | TAS | involved_in | animal organ morphogenesis | Process | 10441571 |
| 51 | Homo sapiens | IEA | involved_in | positive regulation of gene expression | Process | - |
| 52 | Homo sapiens | IMP | involved_in | positive regulation of gene expression | Process | 20592023 |
| 53 | Homo sapiens | IEA | enables | protein kinase binding | Function | - |
| 54 | Homo sapiens | ISS | enables | protein kinase binding | Function | - |
| 55 | Homo sapiens | IEA | involved_in | ventral spinal cord development | Process | - |
| 56 | Homo sapiens | ISS | involved_in | ventral spinal cord development | Process | - |
| 57 | Homo sapiens | IEA | involved_in | cerebral cortex development | Process | - |
| 58 | Homo sapiens | IEA | involved_in | cell differentiation | Process | - |
| 59 | Homo sapiens | IEA | involved_in | neuron differentiation | Process | - |
| 60 | Homo sapiens | IBA | involved_in | forebrain development | Process | - |
| 61 | Homo sapiens | IEA | enables | chromatin DNA binding | Function | - |
| 62 | Homo sapiens | IEA | enables | ubiquitin protein ligase binding | Function | - |
| 63 | Homo sapiens | IEA | enables | histone acetyltransferase binding | Function | - |
| 64 | Homo sapiens | ISS | enables | histone acetyltransferase binding | Function | - |
| 65 | Homo sapiens | IMP | involved_in | glucose homeostasis | Process | 11756345 |
| 66 | Homo sapiens | IEA | involved_in | camera-type eye development | Process | - |
| 67 | Homo sapiens | IEA | enables | sequence-specific DNA binding | Function | - |
| 68 | Homo sapiens | IDA | involved_in | positive regulation of DNA-templated transcription | Process | 20725088 |
| 69 | Homo sapiens | IEA | involved_in | positive regulation of DNA-templated transcription | Process | - |
| 70 | Homo sapiens | IMP | involved_in | positive regulation of DNA-templated transcription | Process | 20592023 |
| 71 | Homo sapiens | IEA | involved_in | positive regulation of transcription by RNA polymerase II | Process | - |
| 72 | Homo sapiens | IMP | involved_in | positive regulation of transcription by RNA polymerase II | Process | 20592023 |
| 73 | Homo sapiens | ISS | involved_in | positive regulation of transcription by RNA polymerase II | Process | - |
| 74 | Homo sapiens | NAS | involved_in | neuron fate commitment | Process | 17291498 |
| 75 | Homo sapiens | ISS | involved_in | negative regulation of neurogenesis | Process | - |
| 76 | Homo sapiens | IEA | involved_in | nervous system process | Process | - |
| 77 | Homo sapiens | IBA | involved_in | retina development in camera-type eye | Process | - |
| 78 | Homo sapiens | IMP | involved_in | iris morphogenesis | Process | 7550230 |
| 79 | Homo sapiens | IMP | involved_in | cornea development in camera-type eye | Process | 7550230 |
| 80 | Homo sapiens | IEA | enables | co-SMAD binding | Function | - |
| 81 | Homo sapiens | IEA | enables | R-SMAD binding | Function | - |
| 82 | Homo sapiens | IPI | enables | R-SMAD binding | Function | 17251190 |
| 83 | Homo sapiens | IEA | enables | HMG box domain binding | Function | - |
| 84 | Homo sapiens | IDA | involved_in | positive regulation of miRNA transcription | Process | 24802670 |
| 85 | Homo sapiens | IDA | enables | sequence-specific double-stranded DNA binding | Function | 28473536 |