| Gene Symbol |
PAX6
|
| Entrez Gene |
5080
|
| Alt Symbol |
AN, AN2, D11S812E, FVH1, MGDA, WAGR
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
paired box 6
|
| Other Description |
aniridia type II protein|oculorhombin|paired box homeotic gene-6|paired box protein Pax-6
|
| Swissprots |
Q99413 P26367 Q6N006
|
| Accessions |
AAB30690 AAB30691 AAB30692 AAN86817 AAO27433 AAP57671 AAP74576 AAR10412 AAR10413 AAS44593 AAS44594 ABB55262 ABB55263 ADP65746 EAW68233 EAW68234 EAW68235 EAW68236 P26367 AB209177 BAD92414 AB593092 BAJ84032 AB593093 BAJ84033 AB593094 BAJ84034 AK074881 BAG52023 AK094172 AK094249 AK314470 AY047583 AAK95849 AY707088 AAU12168 BC011953 AAH11953 BE221553 BI789171 BI816814 BM313099 BM557761 BM725029 BP394398 BP394576 BU072567 BX089704 BX114225 BX440968 BX640762 CAE45868 CA397536 CD673930 CV569250 DA078958 DA079367 DA141443 DA183294 DQ891436 ABM82362 DQ894612 ABM85538 F07809 GQ141695 ACZ28705 KP255960 M77844 AAA59962 M93650 AAA36416 XM_005252954 XP_005253011 XM_005252955 XP_005253012 XM_005252956 XP_005253013 XM_005252958 XP_005253015 XM_006718246 XP_006718309 XM_011520146 XP_011518448 XM_011520147 XP_011518449 XM_011520148 XP_011518450 XM_011520149 XP_011518451 XM_011520150 XP_011518452 XM_011520151 XP_011518453 XM_011520152 XP_011518454 XM_011520153 XP_011518455 NM_000280 NP_000271 NM_001127612 NP_001121084 NM_001258462 NP_001245391 NM_001258463 NP_001245392 NM_001258464 NP_001245393 NM_001258465 NP_001245394 NM_001604 NP_001595
|
| Function |
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes. {ECO:0000250}.
|
| Subcellular Location |
Nucleus.
|
| Tissue Specificity |
Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.
|
| Top Pathways |
Maturity onset diabetes of the young, Signaling pathways regulating pluripotency of stem cells
|
![Western Blot: PAX6 Overexpression Lysate (Adult Normal) [NBP2-08189] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for PAX6.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_1/14662_PAX6%2520Overexpression%2520Lysate%2520%2528Adult%2520Normal%2529-Western%2520Blot-NBP2-08189-img0001.jpg)