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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (29)   
   RefSeq(nuc) (7)   
   GenBank (11)   
   EMBL (11)   
Protein domain (4)   
   Pfam (4)   
All databases (67)   

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