KEGG   Homo sapiens (human): 392255Help
Entry
392255            CDS       T01001                                 

Gene name
GDF6, BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, SGM1, SYNS4
Definition
(RefSeq) growth differentiation factor 6
  KO
K20012  growth differentiation factor 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
Disease
H00837  Leber congenital amaurosis (LCR)
H00852  Klippel-Feil syndrome(KFS)
H01027  Anophthalmia and microphthalmia (A/M)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04350 TGF-beta signaling pathway
    392255 (GDF6)
   04390 Hippo signaling pathway
    392255 (GDF6)
Cytokines [BR:hsa04052]
 TGF-beta family
  GDF5 subfamily
   392255 (GDF6)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: TGF_beta TGFb_propeptide
Motif
Other DBs
NCBI-GeneID: 392255
NCBI-ProteinID: NP_001001557
OMIM: 601147
HGNC: 4221
Ensembl: ENSG00000156466
Vega: OTTHUMG00000164710
Pharos: Q6KF10(Tbio)
UniProt: Q6KF10 A0A0S2A5D6
LinkDB All DBs
Position
8q22.1
AA seq 455 aa AA seqDB search
MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDA
GREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQS
SKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPP
AGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGEL
DAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGSA
EAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLH
VNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCC
VPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR
NT seq 1368 nt NT seq  +upstreamnt  +downstreamnt
atggatactcccagggtcctgctctcggccgtcttcctcatcagttttctgtgggatttg
cccggtttccagcaggcttccatctcatcctcctcgtcgtccgccgagctgggttccacc
aagggcatgcgaagccgcaaggaaggcaagatgcagcgggcgccgcgcgacagtgacgcg
ggccgggagggccaggaaccacagccgcggcctcaggacgaaccccgggctcagcagccc
cgggcgcaggagccgccaggcaggggtccgcgcgtggtgccccacgagtacatgctgtca
atctacaggacttactccatcgctgagaagctgggcatcaatgccagctttttccagtct
tccaagtcggctaatacgatcaccagctttgtagacaggggactagacgatctctcgcac
actcctctccggagacagaagtatttgtttgatgtgtccatgctctcagacaaagaagag
ctggtgggcgcggagctgcggctctttcgccaggcgccctcagcgccctgggggccacca
gccgggccgctccacgtgcagctcttcccttgcctttcgcccctactgctggacgcgcgg
accctggacccgcagggggcgccgccggccggctgggaagtcttcgacgtgtggcagggc
ctgcgccaccagccctggaagcagctgtgcttggagctgcgggccgcatggggcgagctg
gacgccggggaggccgaggcgcgcgcgcggggaccccagcaaccgccgcccccggacctg
cggagtctgggcttcggccggagggtgcggcctccccaggagcgggccctgctggtggta
ttcaccagatcccagcgcaagaacctgttcgcagagatgcgcgagcagctgggctcggcc
gaggctgcgggcccgggcgcgggcgccgaggggtcgtggccgccgccgtcgggcgccccg
gatgccaggccttggctgccctcgcccggccgccggcggcggcgcacggccttcgccagt
cgccatggcaagcggcacggcaagaagtccaggctacgctgcagcaagaagcccctgcac
gtgaacttcaaggagctgggctgggacgactggattatcgcgcccctggagtacgaggcc
tatcactgcgagggtgtatgcgacttcccgctgcgctcgcacctggagcccaccaaccac
gccatcatccagacgctgatgaactccatggaccccggctccaccccgcccagctgctgc
gtgcccaccaaattgactcccatcagcattctatacatcgacgcgggcaataatgtggtc
tacaagcagtacgaggacatggtggtggagtcgtgcggctgcaggtag

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