KEGG   Homo sapiens (human): 6662
Entry
6662              CDS       T01001                                 
Symbol
SOX9, CMD1, CMPD1, ENH13, SRA1, SRXX2, SRXY10, TES, TESCO
Name
(RefSeq) transcription factor SOX-9
  KO
K18435  transcription factor SOX9 (SOX group E)
Organism
hsa  Homo sapiens (human)
Pathway
hsa04024  cAMP signaling pathway
Disease
H00442  Campomelic dysplasia
H00598  46,XX testicular disorder of sex development
H00607  46,XY gonadal dysgenesis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04024 cAMP signaling pathway
    6662 (SOX9)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6662 (SOX9)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   HMG SOX
    6662 (SOX9)
SSDB
Motif
Pfam: HMG_box Sox_N HMG_box_2 HMG_WDHD1
Other DBs
NCBI-GeneID: 6662
NCBI-ProteinID: NP_000337
OMIM: 608160
HGNC: 11204
Ensembl: ENSP00000245479.2
UniProt: P48436
Structure
LinkDB
Position
17:72121020..72126416
AA seq 509 aa
MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDL
KKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAAR
RKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRK
SVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT
PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPP
NGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPP
QPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAY
SPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI
ADTSGVPSIPQTHSPQHWEQPVYTQLTRP
NT seq 1530 nt   +upstreamnt  +downstreamnt
atgaatctcctggaccccttcatgaagatgaccgacgagcaggagaagggcctgtccggc
gcccccagccccaccatgtccgaggactccgcgggctcgccctgcccgtcgggctccggc
tcggacaccgagaacacgcggccccaggagaacacgttccccaagggcgagcccgatctg
aagaaggagagcgaggaggacaagttccccgtgtgcatccgcgaggcggtcagccaggtg
ctcaaaggctacgactggacgctggtgcccatgccggtgcgcgtcaacggctccagcaag
aacaagccgcacgtcaagcggcccatgaacgccttcatggtgtgggcgcaggcggcgcgc
aggaagctcgcggaccagtacccgcacttgcacaacgccgagctcagcaagacgctgggc
aagctctggagacttctgaacgagagcgagaagcggcccttcgtggaggaggcggagcgg
ctgcgcgtgcagcacaagaaggaccacccggattacaagtaccagccgcggcggaggaag
tcggtgaagaacgggcaggcggaggcagaggaggccacggagcagacgcacatctccccc
aacgccatcttcaaggcgctgcaggccgactcgccacactcctcctccggcatgagcgag
gtgcactcccccggcgagcactcggggcaatcccagggcccaccgaccccacccaccacc
cccaaaaccgacgtgcagccgggcaaggctgacctgaagcgagaggggcgccccttgcca
gaggggggcagacagccccctatcgacttccgcgacgtggacatcggcgagctgagcagc
gacgtcatctccaacatcgagaccttcgatgtcaacgagtttgaccagtacctgccgccc
aacggccacccgggggtgccggccacgcacggccaggtcacctacacgggcagctacggc
atcagcagcaccgcggccaccccggcgagcgcgggccacgtgtggatgtccaagcagcag
gcgccgccgccacccccgcagcagcccccacaggccccgccggccccgcaggcgcccccg
cagccgcaggcggcgcccccacagcagccggcggcacccccgcagcagccacaggcgcac
acgctgaccacgctgagcagcgagccgggccagtcccagcgaacgcacatcaagacggag
cagctgagccccagccactacagcgagcagcagcagcactcgccccaacagatcgcctac
agccccttcaacctcccacactacagcccctcctacccgcccatcacccgctcacagtac
gactacaccgaccaccagaactccagctcctactacagccacgcggcaggccagggcacc
ggcctctactccaccttcacctacatgaaccccgctcagcgccccatgtacacccccatc
gccgacacctctggggtcccttccatcccgcagacccacagcccccagcactgggaacaa
cccgtctacacacagctcactcgaccttga

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