KEGG   Homo sapiens (human): 8929
Entry
8929              CDS       T01001                                 

Gene name
PHOX2B, CCHS, NBLST2, NBPhox, PMX2B
Definition
(RefSeq) paired like homeobox 2B
  KO
K09330  paired mesoderm homeobox protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00916  Congenital central hypoventilation syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    8929 (PHOX2B)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain only, Prd
    8929 (PHOX2B)
SSDB
Motif
Pfam: Homeodomain Homeobox_KN
Other DBs
NCBI-GeneID: 8929
NCBI-ProteinID: NP_003915
OMIM: 603851
HGNC: 9143
Ensembl: ENSG00000109132
Vega: OTTHUMG00000099379
Pharos: Q99453(Tbio)
UniProt: Q99453
LinkDB
Position
4p13
AA seq 314 aa
MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSL
TPGSCSLGTLRDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAET
HYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAAAAAAAAAKNGSSGKKSDSSR
DDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGPSPAGAPGAAGPGGPGGEPGKGG
AAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPITSIPDSLGGPFASVLSSLQR
PNGAKAALVKSSMF
NT seq 945 nt   +upstreamnt  +downstreamnt
atgtataaaatggaatattcttacctcaattcctctgcctacgagtcctgtatggctggg
atggacacctcgagcctggcttcagcctatgctgacttcagttcctgcagccaggccagt
ggcttccagtataacccgataaggaccacttttggggccacgtccggctgcccttccctc
acgccgggatcctgcagcctgggcaccctcagggaccaccagagcagtccgtacgccgca
gttccttacaaactcttcacggaccacggcggcctcaacgagaagcgcaagcagcggcgc
atccgcaccactttcaccagtgcccagctcaaagagctggaaagggtcttcgcggagact
cactaccccgacatctacactcgggaggagctggccctgaagatcgacctcacagaggcg
cgagtccaggtgtggttccagaaccgccgcgccaagtttcgcaagcaggagcgcgcagcg
gcagccgcagcggccgcggccaagaacggctcctcgggcaaaaagtctgactcttccagg
gacgacgagagcaaagaggccaagagcactgacccggacagcactgggggcccaggtccc
aatcccaaccccacccccagctgcggggcgaatggaggcggcggcggcgggcccagcccg
gctggagctccgggggcggcggggcccgggggcccgggaggcgaacccggcaagggcggc
gcagcagcagcggcggcggccgcggcagcggcggcggcggcagcggcagcggcggcagct
ggaggcctggctgcggctgggggccctggacaaggctgggctcccggccccggccccatc
acctccatcccggattcgcttgggggtcccttcgccagcgtcctatcttcgctccaaaga
cccaacggtgccaaagccgccttagtgaagagcagtatgttctga

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