KEGG   Homo sapiens (human): 6925Help
Entry
6925              CDS       T01001                                 

Gene name
TCF4, E2-2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, bHLHb19
Definition
(RefSeq) transcription factor 4
  KO
K15603  transcription factor 4/12
Organism
hsa  Homo sapiens (human)
Disease
H00756  Pitt-Hopkins syndrome
Brite
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Basic helix-loop-helix (bHLH)
   Ubiquitous (class A) factors
    6925 (TCF4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: HLH
Motif
Other DBs
NCBI-GeneID: 6925
NCBI-ProteinID: NP_003190
OMIM: 602272
HGNC: 11634
Ensembl: ENSG00000196628
Vega: OTTHUMG00000132713
Pharos: P15884(Tbio)
UniProt: P15884 B3KVA4 A0A024R2C0
Position
18q21.2
AA seq 667 aa AA seqDB search
MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWG
NGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQG
CHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGL
PSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAG
MLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPA
NGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTA
VWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHG
IIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ
SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKD
IKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKP
QTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDA
SNHMGQM
NT seq 2004 nt NT seq  +upstreamnt  +downstreamnt
atgcatcaccaacagcgaatggctgccttagggacggacaaagagctgagtgatttactg
gatttcagtgcgatgttttcacctcctgtgagcagtgggaaaaatggaccaacttctttg
gcaagtggacattttactggctcaaatgtagaagacagaagtagctcagggtcctggggg
aatggaggacatccaagcccgtccaggaactatggagatgggactccctatgaccacatg
accagcagggaccttgggtcacatgacaatctctctccaccttttgtcaattccagaata
caaagtaaaacagaaaggggctcatactcatcttatgggagagaatcaaacttacagggt
tgccaccagcagagtctccttggaggtgacatggatatgggcaacccaggaaccctttcg
cccaccaaacctggttcccagtactatcagtattctagcaataatccccgaaggaggcct
cttcacagtagtgccatggaggtacagacaaagaaagttcgaaaagttcctccaggtttg
ccatcttcagtctatgctccatcagcaagcactgccgactacaatagggactcgccaggc
tatccttcctccaaaccagcaaccagcactttccctagctccttcttcatgcaagatggc
catcacagcagtgacccttggagctcctccagtgggatgaatcagcctggctatgcagga
atgttgggcaactcttctcatattccacagtccagcagctactgtagcctgcatccacat
gaacgtttgagctatccatcacactcctcagcagacatcaattccagtcttcctccgatg
tccactttccatcgtagtggtacaaaccattacagcacctcttcctgtacgcctcctgcc
aacgggacagacagtataatggcaaatagaggaagcggggcagccggcagctcccagact
ggagatgctctggggaaagcacttgcttcgatctattctccagatcacactaacaacagc
ttttcatcaaacccttcaactcctgttggctctcctccatctctctcagcaggcacagct
gtttggtctagaaatggaggacaggcctcatcgtctcctaattatgaaggacccttacac
tctttgcaaagccgaattgaagatcgtttagaaagactggatgatgctattcatgttctc
cggaaccatgcagtgggcccatccacagctatgcctggtggtcatggggacatgcatgga
atcattggaccttctcataatggagccatgggtggtctgggctcagggtatggaaccggc
cttctttcagccaacagacattcactcatggtggggacccatcgtgaagatggcgtggcc
ctgagaggcagccattctcttctgccaaaccaggttccggttccacagcttcctgtccag
tctgcgacttcccctgacctgaacccaccccaggacccttacagaggcatgccaccagga
ctacaggggcagagtgtctcctctggcagctctgagatcaaatccgatgacgagggtgat
gagaacctgcaagacacgaaatcttcggaggacaagaaattagatgacgacaagaaggat
atcaaatcaattactagcaataatgacgatgaggacctgacaccagagcagaaggcagag
cgtgagaaggagcggaggatggccaacaatgcccgagagcgtctgcgggtccgtgacatc
aacgaggctttcaaagagctcggccgcatggtgcagctccacctcaagagtgacaagccc
cagaccaagctcctgatcctccaccaggcggtggccgtcatcctcagtctggagcagcaa
gtccgagaaaggaatctgaatccgaaagctgcgtgtctgaaaagaagggaggaagagaag
gtgtcctcagagcctccccctctctccttggccggcccacaccctggaatgggagacgca
tcgaatcacatgggacagatgtaa

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