P26367

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	PAX6_HUMAN; P26367;
Entrez ID	5080
GenBank Protein ID	NM_000280.4; NM_001127612.1; NM_001258464.1; NM_001258465.1; NM_001310159.1; NM_001310161.1; NM_001604.5;
GenBank Nucleotide ID	NP_000271.1; NP_001121084.1; NP_001245393.1; NP_001245394.1; NP_001297088.1; NP_001297090.1; NP_001595.2;
Protein Name	Paired box protein Pax-6 (Aniridia type II protein) (Oculorhombin)
Gene Name	PAX6; AN2
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. Functional Description 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.
Sequence (Fasta)	MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN GCVSKILGRY 60 YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW EIRDRLLSEG VCTNDNIPSV 120 SSINRVLRNL ASEKQQMGAD GMYDKLRMLN GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ 180 EGGGENTNSI SSNGEDSDEA QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR 240 ERLAAKIDLP EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP 300 QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQPPVPSQ TSSYSCMLPT 360 SPSVNGRSYD TYTPPHMQTH MNSQPMGTSG TTSTGLISPG VSVPVQVPGS EPDMSQYWPR 420 LQ 423 Fasta Sequence >P26367\|PAX6; AN2\|Homo sapiens (Human) MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Methylation	Gastric cancer		P		24513424
1	[Reference]: We demonstrated PIK3CA gene was specifically amplified in gastric cancers, but not in normal gastric tissues. Moreover, frequent methylation of RASSF1A and PAX6 was also found in gastric cancers

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 20) (view all)	MESH:D015783 ; Aniridia MESH:C536370 ; Aniridia cerebellar ataxia mental deficiency MESH:D001321 ; Autistic Disorder OMIM:180500 ; AXENFELD-RIEGER SYNDROME, TYPE 1 MESH:C535970 ; Coloboma of optic nerve MESH:D019465 ; Craniofacial Abnormalities MESH:D003921 ; Diabetes Mellitus, Experimental MESH:D003924 ; Diabetes Mellitus, Type 2 MESH:D008607 ; Intellectual Disability MESH:C537022 ; Keratitis, hereditary MESH:D008545 ; Melanoma MESH:D009361 ; Neoplasm Invasiveness MESH:D009421 ; Nervous System Malformations MESH:C537858 ; O'Donnell Pappas syndrome MESH:D009901 ; Optic Nerve Diseases MESH:C563492 ; Optic Nerve Hypoplasia, Bilateral MESH:C537884 ; Peters anomaly MESH:D013274 ; Stomach Neoplasms MESH:D014071 ; Tooth Abnormalities MESH:D017624 ; WAGR Syndrome
HGMD (count: 314) (view all)	CE984699; Increased promoter activity, association with; Repeat variations CP015902; Aniridia; Complex rearrangements CP984558; Aniridia; Complex rearrangements CP068170; Aniridia; Complex rearrangements CP035745; Aniridia; Complex rearrangements CD085828; Aniridia; Small deletions CD952115; Aniridia; Small deletions CD075495; Aniridia ?; Small deletions CD983713; Aniridia; Small deletions CD045108; Aniridia; Small deletions CD982855; Aniridia; Small deletions CD982858; Aniridia; Small deletions CD082172; Aniridia; Small deletions CD093091; Foveal hypoplasia; Small deletions CD982854; Aniridia; Small deletions CD931041; Aniridia; Small deletions CD082173; Aniridia; Small deletions CD082174; Aniridia; Small deletions CD982863; Aniridia; Small deletions CD071381; Aniridia; Small deletions CD045109; Aniridia; Small deletions CD030589; Aniridia; Small deletions CD082175; Aniridia; Small deletions CD082176; Aniridia; Small deletions CD982859; Aniridia; Small deletions CD083337; Aniridia; Small deletions CD972376; Aniridia; Small deletions CD030587; Aniridia; Small deletions CD044792; Aniridia; Small deletions CD087353; Aniridia; Small deletions CD064608; Aniridia; Small deletions CD982856; Aniridia; Small deletions CD066385; Aniridia; Small deletions CD993842; Aniridia; Small deletions CD072461; Aniridia; Small deletions CD073683; Aniridia; Small deletions CD075496; Aniridia; Small deletions CD093090; Foveal hypoplasia; Small deletions CD994019; Aniridia; Small deletions CD983714; Aniridia; Small deletions CD982861; Aniridia; Small deletions CD992539; Aniridia; Small deletions CD003536; Aniridia; Small deletions CD973066; Aniridia; Small deletions CD064609; Aniridia; Small deletions CD020347; Aniridia; Small deletions CD920901; Aniridia; Small deletions CD994018; Aniridia; Small deletions CD068287; Aniridia; Small deletions CD994017; Aniridia; Small deletions CD068288; Aniridia; Small deletions CD030586; Aniridia; Small deletions CD083338; Aniridia; Small deletions CD015899; Aniridia; Small deletions CD056199; Aniridia; Small deletions CD992541; Aniridia; Small deletions CD982860; Aniridia; Small deletions CD982853; Aniridia; Small deletions CD082177; Aniridia; Small deletions CD064610; Aniridia; Small deletions CD992540; Aniridia; Small deletions CD941755; Aniridia; Small deletions CD066386; Aniridia; Small deletions CD031069; Pineal gland, absence of; Small deletions CD030588; Aniridia; Small deletions CD982864; Aniridia; Small deletions CD982857; Aniridia; Small deletions CD001003; Aniridia; Small deletions CD982862; Aniridia; Small deletions CD001002; Aniridia; Small deletions CD992274; Aniridia; Small deletions CD031536; Aniridia; Small deletions CD973065; Aniridia; Small deletions CD066387; Aniridia; Small deletions CD982852; Aniridia; Small deletions CD941754; Aniridia; Small deletions CD001004; Aniridia; Small deletions CD068289; Aniridia; Small deletions CD044793; Aniridia; Small deletions CD057037; Aniridia; Small deletions CD068290; Aniridia; Small deletions CD030346; Aniridia; Small deletions CD972375; Aniridia; Small deletions CD030347; Aniridia; Small deletions CG082393; Aniridia; Gross deletions CG075843; WAGR syndrome; Gross deletions CG005140; Aniridia; Gross deletions CG984430; Aniridia; Gross deletions CG962924; Aniridia; Gross deletions CG005141; Aniridia; Gross deletions CG973518; Aniridia; Gross deletions CG005142; Aniridia; Gross deletions CG005143; WAGR syndrome; Gross deletions CG083436; Aniridia; Gross deletions CG083437; Aniridia; Gross deletions CG083438; Aniridia; Gross deletions CG083439; Aniridia; Gross deletions CG075844; Aniridia ?; Gross deletions CG082394; WAGR syndrome; Gross deletions CG035300; Aniridia; Gross deletions CG994983; Aniridia; Gross deletions CN035585; Aniridia; Gross insertions CN984509; Aniridia; Gross insertions CX983282; Aniridia; Small indels CX082310; Aniridia; Small indels CP984556; Aniridia; Small indels CX061566; Aniridia; Small indels CX992586; Aniridia; Small indels CX983281; Aniridia; Small indels CX992587; Aniridia; Small indels CP984557; Aniridia; Small indels CX004455; Aniridia; Small indels CX073796; Aniridia; Small indels CX973309; Aniridia; Small indels CX083411; Aniridia; Small indels CX992588; Aniridia; Small indels CX001037; Aniridia; Small indels CI033879; Aniridia; Small insertions CI920952; Aniridia; Small insertions CI992573; Aniridia; Small insertions CI068291; Aniridia; Small insertions CI994030; Aniridia; Small insertions CI075672; Aniridia ?; Small insertions CI080974; Aniridia; Small insertions CI931099; Aniridia; Small insertions CI044824; Aniridia; Small insertions CI085842; Aniridia; Small insertions CI083401; Aniridia; Small insertions CI068292; Aniridia; Small insertions CI983726; Aniridia; Small insertions CI001031; Aniridia; Small insertions CI983184; Aniridia; Small insertions CI983183; Aniridia; Small insertions CI082275; Aniridia; Small insertions CI001032; Aniridia; Small insertions CI941900; Aniridia; Small insertions CI962325; Aniridia; Small insertions CI941899; Aniridia; Small insertions CI995140; Aniridia; Small insertions CI931098; Aniridia; Small insertions CI083402; Aniridia; Small insertions CI064716; Aniridia; Small insertions CI920951; Aniridia; Small insertions CI085843; Aniridia; Small insertions CI972659; Aniridia; Small insertions CI020361; Aniridia; Small insertions CI082276; Aniridia; Small insertions CI994029; Aniridia; Small insertions CI082277; Aniridia; Small insertions CM992377; Aniridia; Missense/nonsense CM068268; Aniridia; Missense/nonsense CM993962; Aniridia; Missense/nonsense CM081390; Aniridia; Missense/nonsense CM068267; Aniridia; Missense/nonsense CM068277; Aniridia; Missense/nonsense CM083006; Aniridia; Missense/nonsense CM981463; Aniridia; Missense/nonsense CM025269; Peters' anomaly; Missense/nonsense CM981464; Cataract, secondary glaucoma; Missense/nonsense CM030485; Aniridia; Missense/nonsense CM941142; Peters' anomaly; Missense/nonsense CM083005; Aniridia; Missense/nonsense CM993963; Aniridia; Missense/nonsense CM981465; Aniridia; Missense/nonsense CM991010; Aniridia; Missense/nonsense CM078153; Aniridia; Missense/nonsense CM068272; Aniridia; Missense/nonsense CM081729; Elliptical anterior iris stromal defects ; Missense/nonsense CM065370; Optic-nerve malformations; Missense/nonsense CM073258; Aniridia ?; Missense/nonsense CM983675; Aniridia; Missense/nonsense CM068273; Aniridia; Missense/nonsense CM992378; Aniridia; Missense/nonsense CM991011; Aniridia; Missense/nonsense CM971138; Aniridia; Missense/nonsense CM981466; Aniridia; Missense/nonsense CM071917; Optic-nerve malformations; Missense/nonsense CM030264; Aniridia; Missense/nonsense CM981467; Aniridia; Missense/nonsense CM068274; Aniridia; Missense/nonsense CM083007; Aniridia; Missense/nonsense CM068278; Aniridia; Missense/nonsense CM068270; Aniridia; Missense/nonsense CM065369; Optic-nerve malformations; Missense/nonsense CM030265; Aniridia; Missense/nonsense CM992379; Aniridia; Missense/nonsense CM078152; Aniridia; Missense/nonsense CM030266; Aniridia; Missense/nonsense CM981468; Aniridia; Missense/nonsense CM992380; Aniridia; Missense/nonsense CM991012; Cataract, with nystagmus; Missense/nonsense CM981469; Aniridia; Missense/nonsense CM031316; Optic-nerve malformations; Missense/nonsense CM093092; Foveal hypoplasia; Missense/nonsense CM030267; Aniridia; Missense/nonsense CM071918; Optic-nerve malformations; Missense/nonsense CM015884; Foveal hypoplasia; Missense/nonsense CM992381; Aniridia; Missense/nonsense CM030268; Aniridia; Missense/nonsense CM971139; Aniridia; Missense/nonsense CM085629; Aniridia; Missense/nonsense CM973040; Aniridia; Missense/nonsense CM941143; Aniridia; Missense/nonsense CM068279; Aniridia; Missense/nonsense CM941144; Aniridia; Missense/nonsense CM081388; Aniridia; Missense/nonsense CM003465; Nystagmus; Missense/nonsense CM013024; Aniridia; Missense/nonsense CM993965; Aniridia; Missense/nonsense CM085630; Aniridia; Missense/nonsense CM083010; Aniridia; Missense/nonsense CM991013; Ectopia pupillae; Missense/nonsense CM081389; Nystagmus; Missense/nonsense CM961092; Foveal hypoplasia; Missense/nonsense CM068269; Aniridia; Missense/nonsense CM981470; Aniridia; Missense/nonsense CM930571; Aniridia; Missense/nonsense CM030269; Aniridia; Missense/nonsense CM981471; Aniridia; Missense/nonsense CM973361; Aniridia; Missense/nonsense CM083009; Aniridia; Missense/nonsense CM066960; Aniridia; Missense/nonsense CM066959; Aniridia; Missense/nonsense CM981472; Aniridia; Missense/nonsense CM030486; Aniridia; Missense/nonsense CM950910; Aniridia; Missense/nonsense CM000822; Aniridia; Missense/nonsense CM068271; Aniridia; Missense/nonsense CM993966; Aniridia; Missense/nonsense CM993967; Aniridia; Missense/nonsense CM950911; Aniridia; Missense/nonsense CM031317; Optic-nerve malformations; Missense/nonsense CM992382; Aniridia; Missense/nonsense CM930572; Aniridia; Missense/nonsense CM983676; Aniridia; Missense/nonsense CM083008; Aniridia; Missense/nonsense CM981473; Aniridia; Missense/nonsense CM074401; Aniridia; Missense/nonsense CM983677; Aniridia; Missense/nonsense CM032655; Aniridia; Missense/nonsense CM920567; Aniridia; Missense/nonsense CM020290; Aniridia ?; Missense/nonsense CM983678; Aniridia; Missense/nonsense CM012178; Aniridia; Missense/nonsense CM081391; Aniridia; Missense/nonsense CM073259; Aniridia; Missense/nonsense CM031318; Optic-nerve malformations; Missense/nonsense CM992383; Aniridia; Missense/nonsense CM941145; Aniridia; Missense/nonsense CM081392; Aniridia; Missense/nonsense CM971140; Aniridia; Missense/nonsense CM993968; Aniridia; Missense/nonsense CM061161; Aniridia; Missense/nonsense CM031319; Optic-nerve malformations; Missense/nonsense CM068275; Aniridia; Missense/nonsense CM068276; Aniridia; Missense/nonsense CM032656; Aniridia; Missense/nonsense CM030487; Aniridia; Missense/nonsense CM930573; Aniridia; Missense/nonsense CM074402; High myopia ?; Missense/nonsense CM995135; Aniridia; Missense/nonsense CM941146; Aniridia; Missense/nonsense CM981474; Aniridia; Missense/nonsense CM031320; Optic-nerve malformations; Missense/nonsense CM981475; Aniridia; Missense/nonsense CM011452; Aniridia; Missense/nonsense CM031321; Optic-nerve malformations; Missense/nonsense CM031322; Optic-nerve malformations; Missense/nonsense CM031323; Optic-nerve malformations; Missense/nonsense CM981476; Ocular anterior segment anomaly; Missense/nonsense CM011453; Aniridia; Missense/nonsense CM012445; Aniridia; Missense/nonsense CS951501; Keratitis, autosomal dominant; Splicing CS068282; Aniridia; Splicing CS982311; Aniridia; Splicing CS075198; Aniridia; Splicing CS015890; Aniridia; Splicing CS973052; Aniridia; Splicing CS951502; Aniridia; Splicing CS983705; Aniridia; Splicing CS992463; Aniridia; Splicing CS068283; Aniridia; Splicing CS982312; Aniridia; Splicing CS971849; Aniridia; Splicing CS951503; Aniridia; Splicing CS072275; Optic-nerve malformations; Splicing CS066302; Gillespie syndrome, atypical; Splicing CS992462; Aniridia; Splicing CS004350; Aniridia; Splicing CS982308; Aniridia; Splicing CS030543; Aniridia; Splicing CS982309; Aniridia; Splicing CS941528; Aniridia; Splicing CS930855; Aniridia; Splicing CS081954; Aniridia; Splicing CS067107; Aniridia; Splicing CS032708; Aniridia; Splicing CS067108; Aniridia; Splicing CS035579; Aniridia ?; Splicing CS030544; Aniridia; Splicing CS930856; Aniridia; Splicing CS083247; Aniridia; Splicing CS993994; Aniridia; Splicing CS982310; Aniridia; Splicing CS068284; Aniridia; Splicing CS983703; Aniridia; Splicing CS971847; Aniridia; Splicing CS920772; Aniridia; Splicing CS035580; Foveal hypoplasia; Splicing CS983704; Aniridia ?; Splicing CS030312; Aniridia; Splicing CS971848; Aniridia; Splicing CS081955; Aniridia; Splicing CS000899; Aniridia; Splicing
GWASdb (count: 4)	rs3026401; Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption); hypertension rs662702; Myopia (severe); myopia rs2071754; Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption); hypertension rs3026354; Obesity-related traits; obesity

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 8) (view all)	215 RKLQRNRTSFTQEQI dbPAF 216 KLQRNRTSFTQEQIE dbPAF 218 QRNRTSFTQEQIEAL dbPAF 281 QRRQASNTPSHIPIS dbPAF 303 YQPIPQPTTPVSSFT dbPAF 304 QPIPQPTTPVSSFTS dbPAF 373 GRSYDTYTPPHMQTH dbPAF 61 SKILGRYYETGSIRP dbPAF
Acetylation (count: 1)	145 GADGMYDKLRMLNGQ PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

O94829	P26367	IntAct; MINT
O95343	P26367	HPRD
P26367	P51532	MINT
P26367	P78352	MINT
P26367	Q96F44	IntAct
P26367	Q99626	HPRD
P26367	Q9NSC5	IntAct
P26367	Q9NYR9	IntAct