full name
paired box 6

synonyms
AN, AN2, D11S812E, MGDA, WAGR, PAX6, ENSG00000007372

HGNC
HGNC:8620

Entrez Gene
Gene:5080

ENSEMBL
ENSG00000007372

location
chr: 11
start: 31806340
stop: 31839509
strand: -

OMIM
OMIM:607108: PAX6 (Autosomal dominant inheritance)
OMIM:120430: ?Coloboma of optic nerve
OMIM:120200: ?Coloboma, ocular
OMIM:120430: ?Morning glory disc anomaly
OMIM:106210: Aniridia
OMIM:604229: Anterior segment dysgenesis 5, multiple subtypes
OMIM:106210: Cataract with late-onset corneal dystrophy
OMIM:136520: Foveal hypoplasia 1
OMIM:148190: Keratitis
OMIM:165550: Optic nerve hypoplasia

transcripts
NM_001127612.1
NM_001258462.1
NM_001258463.1
NM_001258464.1
NM_001604.5
NM_000280.4
NM_001258465.1

pathways
Activation of HOX genes during differentiation [NCBI:1339139] [REACTOME:R-HSA-5619507] [PUBMED:19923920] [PUBMED:25804734] [PUBMED:23973942] [PUBMED:23650639] [PUBMED:20435029] [PUBMED:24529385]
Activation of anterior HOX genes in hindbrain development during early embryogenesis [NCBI:1339140] [REACTOME:R-HSA-5617472] [PUBMED:19575673] [PUBMED:23973942] [PUBMED:18394579] [PUBMED:24529385] [PUBMED:24115586] [PUBMED:18412118] [PUBMED:19651303] [PUBMED:25804734] [PUBMED:22770981] [PUBMED:19923920] [PUBMED:16155570] [PUBMED:18816852] [PUBMED:25560970] [PUBMED:10068641] [PUBMED:10662633] [PUBMED:20435029] [PUBMED:17368312] [PUBMED:21497760] [PUBMED:10668974]
CDC42 signaling events [NCBI:137994] [Pathway Interaction Database:cdc42_pathway] [PUBMED:7629060] [PUBMED:7652575] [PUBMED:8653792] [PUBMED:18448434] [PUBMED:19822663] [PUBMED:19454477] [PUBMED:18662680] [PUBMED:15882626] [PUBMED:11948177] [PUBMED:9860974] [PUBMED:15225553] [PUBMED:8643625] [PUBMED:8107774] [PUBMED:8670801] [PUBMED:8034624] [PUBMED:10934474] [PUBMED:10734320] [PUBMED:17522712] [PUBMED:11525734] [PUBMED:15649357] [PUBMED:10473551] [PUBMED:16157700] [PUBMED:9822598] [PUBMED:15723051] [PUBMED:7600582] [PUBMED:18319301] [PUBMED:9042860] [PUBMED:10613909] [PUBMED:17580073] [PUBMED:12745076] [PUBMED:16253996] [PUBMED:10840034] [PUBMED:10360579] [PUBMED:11907268] [PUBMED:10934475] [PUBMED:10219243] [PUBMED:17038317] [PUBMED:8910292] [PUBMED:9403696] [PUBMED:11285260] [PUBMED:10995437] [PUBMED:9368021] [PUBMED:14970210] [PUBMED:9694656] [PUBMED:14505571] [PUBMED:17115031] [PUBMED:9317150] [PUBMED:14653992] [PUBMED:17081755] [PUBMED:12676083] [PUBMED:18216334] [PUBMED:19826000] [PUBMED:8702968] [PUBMED:11304531] [PUBMED:10973943] [PUBMED:11309380] [PUBMED:18586681] [PUBMED:15479449] [PUBMED:19097998] [PUBMED:16892055] [PUBMED:17244649] [PUBMED:8625410] [PUBMED:8497321] [PUBMED:15485841] [PUBMED:16407834] [PUBMED:11804587] [PUBMED:9867866] [PUBMED:10747870] [PUBMED:7600581] [PUBMED:12610628] [PUBMED:19435802] [PUBMED:15572110] [PUBMED:7592586] [PUBMED:11696321] [PUBMED:10559936]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Incretin synthesis, secretion, and inactivation [NCBI:1268750] [REACTOME:R-HSA-400508] [PUBMED:19074620] [PUBMED:17498508] [PUBMED:17263764]
Maturity onset diabetes of the young [NCBI:83096] [KEGG:hsa04950] [PUBMED:14614204] [PUBMED:15604203] [PUBMED:15028942] [PUBMED:15298336]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Peptide hormone metabolism [NCBI:1268746] [REACTOME:R-HSA-2980736] [PUBMED:2663045] [PUBMED:21805235]
Regulation of beta-cell development [NCBI:1270337] [REACTOME:R-HSA-186712] [PUBMED:15298336] [PUBMED:18094957] [PUBMED:11575290] [PUBMED:12591178]
Regulation of gene expression in beta cells [NCBI:1270341] [REACTOME:R-HSA-210745] [PUBMED:12591178] [PUBMED:15298336]
Signaling pathways regulating pluripotency of stem cells [NCBI:1026136] [KEGG:hsa04550] [PUBMED:20705693] [PUBMED:23653415] [PUBMED:16518401] [PUBMED:17211451] [PUBMED:22649650] [PUBMED:24910449] [PUBMED:19551525] [PUBMED:22298652] [PUBMED:23370346] [PUBMED:24315442] [PUBMED:18414030] [PUBMED:17647265] [PUBMED:18295576] [PUBMED:24957798] [PUBMED:24147644] [PUBMED:16153702] [PUBMED:19427042] [PUBMED:18220859] [PUBMED:19571885] [PUBMED:23585347]
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) [NCBI:1268751] [REACTOME:R-HSA-381771] [PUBMED:11564718] [PUBMED:17928588] [PUBMED:1499644] [PUBMED:17263764] [PUBMED:19074620] [PUBMED:17498508]
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) [NCBI:1268752] [REACTOME:R-HSA-400511] [PUBMED:19074620] [PUBMED:17498508] [PUBMED:17263764]