Homo sapiens (human): 5308
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Homeodomain
OAR
Homeobox_KN
XRCC4_C
Motif
Other DBs
NCBI-GeneID:
5308
NCBI-ProteinID:
NP_001191326
OMIM:
601542
HGNC:
9005
Ensembl:
ENSG00000164093
UniProt:
Q99697
Structure
PDB
LinkDB
All DBs
Position
4:complement(110617423..110642123)
Genome browser
AA seq
317 aa
AA seq
DB search
METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGA
NEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV
WTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWA
AKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLN
SLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQ
NPASNLSACQYAVDRPV
NT seq
954 nt
NT seq
+upstream
nt +downstream
nt
atggagaccaactgccgcaaactggtgtcggcgtgtgtgcaattaggcgtgcagccggcg
gccgttgaatgtctcttctccaaagactccgaaatcaaaaaggtcgagttcacggactct
cctgagagccgaaaagaggcagccagcagcaagttcttcccgcggcagcatcctggcgcc
aatgagaaagataaaagccagcaggggaagaatgaggacgtgggcgccgaggacccgtct
aagaagaagcggcaaaggcggcagcggactcactttaccagccagcagctccaggagctg
gaggccactttccagaggaaccgctacccggacatgtccacacgcgaagaaatcgctgtg
tggaccaaccttacggaagcccgagtccgggtttggttcaagaatcgtcgggccaaatgg
agaaagagggagcgcaaccagcaggccgagctatgcaagaatggcttcgggccgcagttc
aatgggctcatgcagccctacgacgacatgtacccaggctattcctacaacaactgggcc
gccaagggccttacatccgcctccctatccaccaagagcttccccttcttcaactctatg
aacgtcaaccccctgtcatcacagagcatgttttccccacccaactctatctcgtccatg
agcatgtcgtccagcatggtgccctcagcagtgacaggcgtcccgggctccagtctcaac
agcctgaataacttgaacaacctgagtagcccgtcgctgaattccgcggtgccgacgcct
gcctgtccttacgcgccgccgactcctccgtatgtttatagggacacgtgtaactcgagc
ctggccagcctgagactgaaagcaaagcagcactccagcttcggctacgccagcgtgcag
aacccggcctccaacctgagtgcttgccagtatgcagtggaccggcccgtgtga
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