KEGG   Homo sapiens (human): 5308Help
Entry
5308              CDS       T01001                                 

Gene name
PITX2, ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
Definition
paired-like homeodomain 2
Orthology
K04686  
paired-like homeodomain transcription factor 2
Organism
hsa  Homo sapiens (human)
Pathway
TGF-beta signaling pathway
Disease
H00620  
Axenfeld-Rieger syndrome (ARS)
H01075  
Peters anomaly
H01149  
Ring dermoid of cornea
H01159  
Anterior segment dysgenesis (ASD)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04350 TGF-beta signaling pathway
    5308 (PITX2)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Helix-turn-helix
   Homeo domain only, not assigned
    5308 (PITX2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
4q25
AA seq 324 aa AA seqDB search
MNCMKGPLHLEHRAAGTKLSAVSSSSCHHPQPLAMASVLAPGQPRSLDSSKHRLEVHTIS
DTSSPEAAEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMS
TREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPG
YSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTG
VPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSS
FGYASVQNPASNLSACQYAVDRPV
NT seq 975 nt NT seq  +upstreamnt  +downstreamnt
atgaactgcatgaaaggcccgcttcacttggagcaccgagcagcggggaccaagctgtcg
gccgtctcctcatcttcctgtcaccatccccagccgttagccatggcttcggttctggct
cccggtcagccccggtcgctggactcctccaagcacaggctggaggtgcacaccatctcc
gacacctccagcccggaggccgcagagaaagataaaagccagcaggggaagaatgaggac
gtgggcgccgaggacccgtctaagaagaagcggcaaaggcggcagcggactcactttacc
agccagcagctccaggagctggaggccactttccagaggaaccgctacccggacatgtcc
acacgcgaagaaatcgctgtgtggaccaaccttacggaagcccgagtccgggtttggttc
aagaatcgtcgggccaaatggagaaagagggagcgcaaccagcaggccgagctatgcaag
aatggcttcgggccgcagttcaatgggctcatgcagccctacgacgacatgtacccaggc
tattcctacaacaactgggccgccaagggccttacatccgcctccctatccaccaagagc
ttccccttcttcaactctatgaacgtcaaccccctgtcatcacagagcatgttttcccca
cccaactctatctcgtccatgagcatgtcgtccagcatggtgccctcagcagtgacaggc
gtcccgggctccagtctcaacagcctgaataacttgaacaacctgagtagcccgtcgctg
aattccgcggtgccgacgcctgcctgtccttacgcgccgccgactcctccgtatgtttat
agggacacgtgtaactcgagcctggccagcctgagactgaaagcaaagcagcactccagc
ttcggctacgccagcgtgcagaacccggcctccaacctgagtgcttgccagtatgcagtg
gaccggcccgtgtga

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