KEGG   Homo sapiens (human): 117581
Entry
117581            CDS       T01001                                 
Symbol
TWIST2, AMS, BBRSAY, DERMO1, FFDD3, SETLSS, bHLHa39
Name
(RefSeq) twist family bHLH transcription factor 2
  KO
K09069  twist
Organism
hsa  Homo sapiens (human)
Pathway
hsa05205  Proteoglycans in cancer
Disease
H01932  Ablepharon-macrostomia syndrome
H01934  Barber-Say syndrome
H02083  Focal facial dermal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    117581 (TWIST2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    117581 (TWIST2)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Tal/Twist/Atonal/Hen, Mesodermal Twist-like factors
    117581 (TWIST2)
SSDB
Motif
Pfam: HLH HTH_51 CDK5RAP3
Other DBs
NCBI-GeneID: 117581
NCBI-ProteinID: NP_001258822
OMIM: 607556
HGNC: 20670
Ensembl: ENSG00000233608
UniProt: Q8WVJ9
LinkDB
Position
2:238848085..238910534
AA seq 160 aa
MEEGSSSPVSPVDSLGTSEEELERQPKRFGRKRRYSKKSSEDGSPTPGKRGKKGSPSAQS
FEELQSQRILANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQV
LQSDEMDNKMTSCSYVAHERLSYAFSVWRMEGAWSMSASH
NT seq 483 nt   +upstreamnt  +downstreamnt
atggaggagggctccagctcgcccgtgtcccccgtggacagcctgggcaccagcgaggag
gagctcgagaggcagcccaagcgcttcggccggaagcggcgctacagcaagaagtcgagc
gaagatggcagcccgaccccgggcaagcgcggcaagaagggcagccccagcgcgcagtcc
ttcgaggagctgcagagccagcgcatcctggccaacgtgcgcgagcgccagcgcacccag
tcgctcaacgaggccttcgcggcgctgcgcaagatcatccccacgctgccctctgacaag
ctgagcaagatccagacgctcaagctggccgccaggtacatagacttcctctaccaggtc
ctgcagagcgacgagatggacaataagatgaccagctgcagctacgtggcccacgagcgc
ctcagctacgccttctccgtgtggcgcatggagggcgcgtggtccatgtccgcctcccac
tag

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