PAX6Gene Detail-Gene Database-Genelibs

PAX6 (paired box 6)

symbol

PAX6

locus group

protein-coding gene

location

11p13

gene_family

PRD class homeoboxes and pseudogenes|Paired boxes

alias symbol

D11S812E|AN|WAGR

alias name

aniridia, keratitis|Aniridia 1|Ani…

entrez id

5080

ensembl gene id

ENSG00000007372

ucsc gene id

uc058abq.1

refseq accession

NM_001604

hgnc_id

HGNC:8620

approved reserved

1986-01-01

11p13

ChineseEnglish

PAX6是一个关键的转录因子基因，属于PAX基因家族（配对盒基因家族），该家族成员均含有一个高度保守的DNA结合结构域——配对盒结构域（PAX domain），负责调控胚胎发育和组织分化。PAX6在眼睛、中枢神经系统和胰腺发育中起核心作用，尤其在眼睛发育中被称为“主控基因”，指导视网膜、晶状体和角膜的形成。其表达产物通过调控下游靶基因（如SOX2和PROX1）的转录，影响细胞增殖、分化和迁移。PAX6突变会导致严重的发育异常，如无虹膜症（ANIRIDIA，表现为虹膜缺失和视力障碍）、小眼畸形或先天性白内障，部分突变还与自闭症谱系障碍和嗅觉缺失相关。PAX6单倍剂量不足（表达量降低）会引发眼部发育缺陷，而过表达则可能导致细胞分化紊乱或肿瘤发生（如神经胶质瘤）。PAX6基因家族（包括PAX1-PAX9）的共性在于通过配对盒结构域结合特定DNA序列调控发育相关基因，成员在器官发生中具有时空特异性。例如，PAX2参与肾脏和耳朵发育，PAX3与肌肉和神经嵴发育相关。PAX6的保守性极高，从果蝇到人类功能相似，其异常表达不仅影响自身靶基因网络，还可能干扰其他PAX家族成员（如PAX2/PAX8）的协同作用，导致多系统发育缺陷。研究PAX6对再生医学（如视网膜修复）和癌症治疗有潜在意义。

该基因编码配对盒基因6，果蝇基因珠三角的许多人类同源之一。除了该基因家族，一个保守的配对盒结构域的标志特征，所编码的蛋白质也含有homeo box结构域。两个域是已知的DNA结合和功能的基因转录的调节。该基因在发育的神经系统中表达，并在显影的眼睛。在这个基因的突变是已知的导致眼部病症，如无虹膜和彼得的异常。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的，2012年5月提供]

This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

OMIM entry for PAX6 Wikipedia entry for PAX6

Nucleotide sequence of PAX6:[NCBI]

Loading Gene Browser...

Protein Sequence

1MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC
41DISRILQVSN GCVSKILGRY YETGSIRPRA IGGSKPRVAT
81
PEVVSKIAQ YKRECPSIFA WEIRDRLLSE GVCTNDNIPS
121VSSINRVLRN LASEKQQMGA DGMYDKLRML NGQTGSWGTR
161P
GWYPGTSV PGQPTQDGCQ QQEGGGENTN SISSNGEDSD
201EAQMRLQLKR KLQRNRTSFT QEQIEALEKE FERTHYPDVF
241AR
ERLAAKI DLPEARIQVW FSNRRAKWRR EEKLRNQRRQ
281ASNTPSHIPI SSSFSTSVYQ PIPQPTTPVS SFTSGSMLGR
321TDT
ALTNTY SALPPMPSFT MANNLPMQPP VPSQTSSYSC
361MLPTSPSVNG RSYDTYTPPH MQTHMNSQPM GTSGTTSTGL
401ISPG
VSVPV QVPGSEPDMS QYWPRLQ

Structure predicted by AlphaFold DB(UniProt: P26367). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

SNP variants of PAX6: Showing partial SNPs

rs495902 rs1540318 rs1540319 rs1540320 rs1806155 rs1806156 rs1806157 rs1806158 rs1806159 rs1806180 rs1806181 rs1806182 rs1806183 rs1806184 rs1806185 rs1806186 rs3026349

Tissue expression of PAX6: [UniProt]

Forward Primer

Forward Tm

Reverse Primer

Reverse Tm

Score

GAATTCTGCAGACCCATGC

AGTCTCGTAATACCTGCCC

CTTTGCTTGGGAAATCCGA

GTTTATTGATGACACGCTTGG

GAATTCTGCAGACCCATGC

AGTCTCGTAATACCTGCCC

GCATGCAGAACAGTCACAG

TACAATCTTCTGCCGGGTG

AAGGGCTGTAAGGTCACAG

TCTACAATCTTCTGCCGGG

CACATCGACCACATTATGGC

GAATCTTCTCCGTTGGAACTG

CTTTGCTTGGGAAATCCGA

GTTTATTGATGACACGCTTGG

TGGAGTGTACTGAGGAATCTG

AAGGAGTTGCTGGTGAGAG

CTTTGCTTGGGAAATCCGA

GTTTATTGATGACACGCTTGG

GAATTCTGCAGACCCATGC

AGTTTATCATACATGCCGTCTG

Transcription Factors

Target Gene

Interaction Type

PubMed References

CTCF

PAX6

Activation

16723452

CTCF

PAX6

Repression

16723452

CTCF

PAX6

Unknown

15096508; 17122106

FOXA2

PAX6

Repression

22911885

OTX2

PAX6

Activation

22085933

PAX6

FABP7

Activation

22583899

PAX6

GCG

Unknown

21824252

PAX6

ITGA5

Unknown

10954416

PAX6

ITGB1

Unknown

10954416

PAX6

KRT12

Unknown

9856765

Subcellular localization of PAX6 (and its protein):

[UniProt] [GenomeNet]

plasma membrane
cytoplasm
extracellular
golgi
vesicle
cytoskeleton
endoplasmic reticulum
nucleus
endosome
lysosome
mitochondrion

Gene Ontology (GO) terms for PAX6:

GO ID

Protein

Source DB

GO:0003677

B1B1I8 (UniProtKB)

IEA

GO:0005634

B1B1I8 (UniProtKB)

IEA

GO:0006351

B1B1I8 (UniProtKB)

IEA

GO:0006355

B1B1I8 (UniProtKB)

IEA

GO:0007275

B1B1I8 (UniProtKB)

IEA

GO:0003677

B1B1I9 (UniProtKB)

IEA

GO:0005634

B1B1I9 (UniProtKB)

IEA

GO:0006351

B1B1I9 (UniProtKB)

IEA

GO:0006355

B1B1I9 (UniProtKB)

IEA

GO:0007275

B1B1I9 (UniProtKB)

IEA

GO:0003677

B1B1J0 (UniProtKB)

IEA

GO:0005634

B1B1J0 (UniProtKB)

IEA

GO:0006351

B1B1J0 (UniProtKB)

IEA

GO:0006355

B1B1J0 (UniProtKB)

IEA

GO:0007275

B1B1J0 (UniProtKB)

IEA

GO:0003677

E9PKM0 (UniProtKB)

IEA

GO:0005634

E9PKM0 (UniProtKB)

IEA

GO:0006351

E9PKM0 (UniProtKB)

IEA

GO:0006355

E9PKM0 (UniProtKB)

IEA

GO:0007275

E9PKM0 (UniProtKB)

IEA

GO:0000122

P26367 (UniProtKB)

IEA

GO:0000132

P26367 (UniProtKB)

IEA

GO:0000790

P26367 (UniProtKB)

IDA

GO:0000978

P26367 (UniProtKB)

IEA

GO:0000979

P26367 (UniProtKB)

IDA

GO:0000981

P26367 (UniProtKB)

IDA

GO:0001077

P26367 (UniProtKB)

IEA

GO:0001227

P26367 (UniProtKB)

IEA

GO:0001568

P26367 (UniProtKB)

IMP

GO:0001654

P26367 (UniProtKB)

TAS

GO:0001709

P26367 (UniProtKB)

IEA

GO:0001764

P26367 (UniProtKB)

IEA

GO:0001933

P26367 (UniProtKB)

IEA

GO:0002052

P26367 (UniProtKB)

IEA

GO:0002088

P26367 (UniProtKB)

IEA

GO:0003309

P26367 (UniProtKB)

IEA

GO:0003322

P26367 (UniProtKB)

IMP

GO:0003677

P26367 (UniProtKB)

TAS

GO:0003682

P26367 (UniProtKB)

IEA

GO:0003700

P26367 (UniProtKB)

TAS

GO:0003700

P26367 (UniProtKB)

TAS

GO:0004842

P26367 (UniProtKB)

ISS

GO:0005515

P26367 (UniProtKB)

IPI

GO:0005515

P26367 (UniProtKB)

IPI

GO:0005634

P26367 (UniProtKB)

IDA

GO:0005654

P26367 (UniProtKB)

IDA

GO:0005737

P26367 (UniProtKB)

IDA

GO:0005737

P26367 (UniProtKB)

IDA

GO:0006366

P26367 (UniProtKB)

IMP

GO:0007224

P26367 (UniProtKB)

IEA

GO:0007411

P26367 (UniProtKB)

IEA

GO:0007417

P26367 (UniProtKB)

TAS

GO:0007435

P26367 (UniProtKB)

IEA

GO:0007601

P26367 (UniProtKB)

TAS

GO:0008134

P26367 (UniProtKB)

ISS

GO:0009611

P26367 (UniProtKB)

IEP

GO:0009786

P26367 (UniProtKB)

IEA

GO:0009887

P26367 (UniProtKB)

TAS

GO:0009950

P26367 (UniProtKB)

IEA

GO:0010628

P26367 (UniProtKB)

IMP

GO:0016567

P26367 (UniProtKB)

IEA

GO:0019901

P26367 (UniProtKB)

ISS

GO:0021778

P26367 (UniProtKB)

IEA

GO:0021796

P26367 (UniProtKB)

IEA

GO:0021797

P26367 (UniProtKB)

IEA

GO:0021798

P26367 (UniProtKB)

IEA

GO:0021902

P26367 (UniProtKB)

IEA

GO:0021905

P26367 (UniProtKB)

IEA

GO:0021912

P26367 (UniProtKB)

IEA

GO:0021913

P26367 (UniProtKB)

IEA

GO:0021918

P26367 (UniProtKB)

IEA

GO:0021983

P26367 (UniProtKB)

IEA

GO:0023019

P26367 (UniProtKB)

IEA

GO:0030216

P26367 (UniProtKB)

IEA

GO:0030334

P26367 (UniProtKB)

IEA

GO:0030858

P26367 (UniProtKB)

IEA

GO:0031625

P26367 (UniProtKB)

IEA

GO:0032808

P26367 (UniProtKB)

IEA

GO:0033365

P26367 (UniProtKB)

IEA

GO:0035035

P26367 (UniProtKB)

ISS

GO:0042462

P26367 (UniProtKB)

IEA

GO:0042593

P26367 (UniProtKB)

IMP

GO:0045665

P26367 (UniProtKB)

IEA

GO:0045893

P26367 (UniProtKB)

IMP

GO:0045944

P26367 (UniProtKB)

ISS

GO:0048505

P26367 (UniProtKB)

IEA

GO:0048596

P26367 (UniProtKB)

IEA

GO:0048663

P26367 (UniProtKB)

NAS

GO:0048708

P26367 (UniProtKB)

IEA

GO:0050680

P26367 (UniProtKB)

IEA

GO:0050768

P26367 (UniProtKB)

ISS

GO:0060041

P26367 (UniProtKB)

IEA

GO:0061072

P26367 (UniProtKB)

IMP

GO:0061303

P26367 (UniProtKB)

IMP

GO:0070410

P26367 (UniProtKB)

IEA

GO:0070412

P26367 (UniProtKB)

IPI

GO:0071837

P26367 (UniProtKB)

IEA

GO:2000178

P26367 (UniProtKB)

IEA

microRNAs potentially regulating PAX6:

hsa-miR-196a hsa-miR-30a hsa-miR-30a* hsa-miR-30b hsa-miR-30b* hsa-miR-30c hsa-miR-30d hsa-miR-30d* hsa-miR-30e hsa-miR-30e*

String

BioGrid

IntAct

mentha

Reactome

Loading…

Interacting Gene	Interaction	Source/Score

KEGG
Reactomepathway

Name
4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550]
4950 Maturity onset diabetes of the young [PATH:hsa04950]

Name
Developmental Biology
Incretin synthesis, secretion, and inactivation
Metabolism of proteins
Peptide hormone metabolism
Regulation of beta-cell development
Regulation of gene expression in beta cells
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

Disease

Score

NofPmids

NofSnps

Source

Disease	Score	NofPmids	NofSnps	Source
Aniridia	0.606164981	152	15	BeFree_CLINVAR_CTD_human_LHGDN_MGD_ORPHANET_UNIPROT
Irido-corneo-trabecular dysgenesis (disorder)	0.562714419	12	4	BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Congenital ocular coloboma (disorder)	0.480814326	4	1	BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Optic Nerve Hypoplasia, Bilateral	0.48	1	1	CLINVAR_CTD_human_ORPHANET_UNIPROT
Gillespie syndrome	0.360271442	1	1	BeFree_CLINVAR_CTD_human_ORPHANET
Coloboma of optic disc	0.36	1	2	CLINVAR_CTD_human_UNIPROT
Keratitis, hereditary	0.32	0	0	CTD_human_MGD_ORPHANET
FOVEAL HYPOPLASIA 1	0.24	1	0	ORPHANET_UNIPROT
Autistic Disorder	0.203452799	6	1	BeFree_CTD_human_GAD_RGD
WAGR Syndrome	0.124071628	15	0	BeFree_ORPHANET

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