KEGG   Homo sapiens (human): 117581Help
Entry
117581            CDS       T01001                                 

Gene name
TWIST2, AMS, BBRSAY, DERMO1, FFDD3, SETLSS, bHLHa39
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: HLH HTH_51 DUF773 GDH_N
Motif
Other DBs
NCBI-GeneID: 117581
NCBI-ProteinID: NP_001258822
OMIM: 607556
HGNC: 20670
Ensembl: ENSG00000233608
Vega: OTTHUMG00000152836
Pharos: Q8WVJ9(Tbio)
UniProt: Q8WVJ9 A0A024R4D4
LinkDB All DBs
Position
2q37.3
AA seq 160 aa AA seqDB search
MEEGSSSPVSPVDSLGTSEEELERQPKRFGRKRRYSKKSSEDGSPTPGKRGKKGSPSAQS
FEELQSQRILANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQV
LQSDEMDNKMTSCSYVAHERLSYAFSVWRMEGAWSMSASH
NT seq 483 nt NT seq  +upstreamnt  +downstreamnt
atggaggagggctccagctcgcccgtgtcccccgtggacagcctgggcaccagcgaggag
gagctcgagaggcagcccaagcgcttcggccggaagcggcgctacagcaagaagtcgagc
gaagatggcagcccgaccccgggcaagcgcggcaagaagggcagccccagcgcgcagtcc
ttcgaggagctgcagagccagcgcatcctggccaacgtgcgcgagcgccagcgcacccag
tcgctcaacgaggccttcgcggcgctgcgcaagatcatccccacgctgccctctgacaag
ctgagcaagatccagacgctcaagctggccgccaggtacatagacttcctctaccaggtc
ctgcagagcgacgagatggacaataagatgaccagctgcagctacgtggcccacgagcgc
ctcagctacgccttctccgtgtggcgcatggagggcgcgtggtccatgtccgcctcccac
tag

KEGG   Homo sapiens (human): 7291Help
Entry
7291              CDS       T01001                                 

Gene name
TWIST1, ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, TWIST, bHLHa38
Definition
(RefSeq) twist family bHLH transcription factor 1
  KO
K09069  twist
Organism
hsa  Homo sapiens (human)
Pathway
hsa05205  Proteoglycans in cancer
Disease
H00458  Syndromic craniosynostoses
H01991  Saethre-Chotzen syndrome
H02160  Craniosynostoses
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    7291 (TWIST1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    7291 (TWIST1)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Basic helix-loop-helix (bHLH)
   Tal/Twist/Atonal/Hen, Mesodermal Twist-like factors
    7291 (TWIST1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: HLH HTH_51 DUF773 GDH_N
Motif
Other DBs
NCBI-GeneID: 7291
NCBI-ProteinID: NP_000465
OMIM: 601622
HGNC: 12428
Ensembl: ENSG00000122691
Vega: OTTHUMG00000090821
Pharos: Q15672(Tbio)
UniProt: Q15672
LinkDB All DBs
Position
7p21.1
AA seq 202 aa AA seqDB search
MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGV
GGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQR
TQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQVLQSDELDSKMASCSYVAH
ERLSYAFSVWRMEGAWSMSASH
NT seq 609 nt NT seq  +upstreamnt  +downstreamnt
atgatgcaggacgtgtccagctcgccagtctcgccggccgacgacagcctgagcaacagc
gaggaagagccagaccggcagcagccgccgagcggcaagcgcgggggacgcaagcggcgc
agcagcaggcgcagcgcgggcggcggcgcggggcccggcggagccgcgggtgggggcgtc
ggaggcggcgacgagccgggcagcccggcccagggcaagcgcggcaagaagtctgcgggc
tgtggcggcggcggcggcgcgggcggcggcggcggcagcagcagcggcggcgggagtccg
cagtcttacgaggagctgcagacgcagcgggtcatggccaacgtgcgggagcgccagcgc
acccagtcgctgaacgaggcgttcgccgcgctgcggaagatcatccccacgctgccctcg
gacaagctgagcaagattcagaccctcaagctggcggccaggtacatcgacttcctctac
caggtcctccagagcgacgagctggactccaagatggcaagctgcagctatgtggctcac
gagcggctcagctacgccttctcggtctggaggatggagggggcctggtccatgtccgcg
tcccactag

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