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

Gene name
PITX2, ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
Definition
(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 (ARS)
H01075  Peters anomaly
H01149  Ring dermoid of cornea
H01159  Anterior segment dysgenesis (ASD)
H01700  Hypopituitarism
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
Pfam: Homeobox OAR XRCC4 Homeobox_KN Pinin_SDK_N
Motif
Other DBs
NCBI-GeneID: 5308
NCBI-ProteinID: NP_001191326
OMIM: 601542
HGNC: 9005
Ensembl: ENSG00000164093
Vega: OTTHUMG00000132837
Pharos: Q99697(Tbio)
UniProt: Q99697
Structure
PDB: 

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

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