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

Symbol
PITX2, ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
Name
(RefSeq) paired like homeodomain 2
  KO
K04686  paired-like homeodomain transcription factor 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04350  TGF-beta signaling pathway
Disease
H00620  Axenfeld-Rieger syndrome
H01149  Ring dermoid of cornea
H01159  Anterior segment dysgenesis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    5308 (PITX2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    5308 (PITX2)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain Paired-related
    5308 (PITX2)
SSDB
Motif
Pfam: Homeodomain OAR XRCC4 Homeobox_KN
Other DBs
NCBI-GeneID: 5308
NCBI-ProteinID: NP_001191326
OMIM: 601542
HGNC: 9005
Ensembl: ENSG00000164093
Vega: OTTHUMG00000132837
Pharos: Q99697(Tbio)
UniProt: Q99697
Structure
PDB: 
2LKX 2L7M 2L7F

Position
4q25
AA seq 317 aa
METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGA
NEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV
WTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWA
AKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLN
SLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQ
NPASNLSACQYAVDRPV
NT seq 954 nt   +upstreamnt  +downstreamnt
atggagaccaactgccgcaaactggtgtcggcgtgtgtgcaattaggcgtgcagccggcg
gccgttgaatgtctcttctccaaagactccgaaatcaaaaaggtcgagttcacggactct
cctgagagccgaaaagaggcagccagcagcaagttcttcccgcggcagcatcctggcgcc
aatgagaaagataaaagccagcaggggaagaatgaggacgtgggcgccgaggacccgtct
aagaagaagcggcaaaggcggcagcggactcactttaccagccagcagctccaggagctg
gaggccactttccagaggaaccgctacccggacatgtccacacgcgaagaaatcgctgtg
tggaccaaccttacggaagcccgagtccgggtttggttcaagaatcgtcgggccaaatgg
agaaagagggagcgcaaccagcaggccgagctatgcaagaatggcttcgggccgcagttc
aatgggctcatgcagccctacgacgacatgtacccaggctattcctacaacaactgggcc
gccaagggccttacatccgcctccctatccaccaagagcttccccttcttcaactctatg
aacgtcaaccccctgtcatcacagagcatgttttccccacccaactctatctcgtccatg
agcatgtcgtccagcatggtgccctcagcagtgacaggcgtcccgggctccagtctcaac
agcctgaataacttgaacaacctgagtagcccgtcgctgaattccgcggtgccgacgcct
gcctgtccttacgcgccgccgactcctccgtatgtttatagggacacgtgtaactcgagc
ctggccagcctgagactgaaagcaaagcagcactccagcttcggctacgccagcgtgcag
aacccggcctccaacctgagtgcttgccagtatgcagtggaccggcccgtgtga

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