KEGG   Homo sapiens (human): 6925
Entry
6925              CDS       T01001                                 
Symbol
TCF4, CDG2T, E2-2, FCD2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, bHLHb19
Name
(RefSeq) transcription factor 4
  KO
K15603  transcription factor 4/12
Organism
hsa  Homo sapiens (human)
Disease
H00756  Pitt-Hopkins syndrome
H00960  Fuchs corneal dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6925 (TCF4)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Ubiquitous (class A) factors
    6925 (TCF4)
SSDB
Motif
Pfam: HLH
Other DBs
NCBI-GeneID: 6925
NCBI-ProteinID: NP_003190
OMIM: 602272
HGNC: 11634
Ensembl: ENSG00000196628
UniProt: P15884 B3KVA4
Structure
Position
18:complement(55222185..55635957)
AA seq 667 aa
MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWG
NGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQG
CHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGL
PSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAG
MLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPA
NGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTA
VWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHG
IIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ
SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKD
IKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKP
QTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDA
SNHMGQM
NT seq 2004 nt   +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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Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (49)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (46)   
DNA sequence (152)   
   RefSeq(nuc) (46)   
   GenBank (53)   
   EMBL (53)   
3D Structure (4)   
   PDB (4)   
Protein domain (1)   
   Pfam (1)   
All databases (232)   

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