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
H01075  Peters anomaly
H01149  Ring dermoid of cornea
H01159  Anterior segment dysgenesis
H01700  Hypopituitarism
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 only, not assigned
    5308 (PITX2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Homeodomain 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: 

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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (9)   
   KEGG DISEASE (5)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (2)   
   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 (5)   
   Pfam (5)   
All databases (72)   

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