KEGG   Homo sapiens (human): 79977
Entry
79977             CDS       T01001                                 
Symbol
GRHL2, BOM, DFNA28, ECTDS, PPCD4, TFCP2L3
Name
(RefSeq) grainyhead like transcription factor 2
  KO
K09275  transcription factor CP2 and related proteins
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
H00961  Posterior polymorphous corneal dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    79977 (GRHL2)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   Grainyhead
    79977 (GRHL2)
SSDB
Motif
Pfam: CP2 Sp-DndD
Other DBs
NCBI-GeneID: 79977
NCBI-ProteinID: NP_079191
OMIM: 608576
HGNC: 2799
Ensembl: ENSG00000083307
UniProt: Q6ISB3
Structure
Position
8:101492439..101681200
AA seq 625 aa
MSQESDNNKRLVALVPMPSDPPFNTRRAYTSEDEAWKSYLENPLTAATKAMMSINGDEDS
AAALGLLYDYYKVPRDKRLLSVSKASDSQEDQEKRNCLGTSEAQSNLSGGENRVQVLKTV
PVNLSLNQDHLENSKREQYSISFPESSAIIPVSGITVVKAEDFTPVFMAPPVHYPRGDGE
EQRVVIFEQTQYDVPSLATHSAYLKDDQRSTPDSTYSESFKDAATEKFRSASVGAEEYMY
DQTSSGTFQYTLEATKSLRQKQGEGPMTYLNKGQFYAITLSETGDNKCFRHPISKVRSVV
MVVFSEDKNRDEQLKYWKYWHSRQHTAKQRVLDIADYKESFNTIGNIEEIAYNAVSFTWD
VNEEAKIFITVNCLSTDFSSQKGVKGLPLMIQIDTYSYNNRSNKPIHRAYCQIKVFCDKG
AERKIRDEERKQNRKKGKGQASQTQCNSSSDGKLAAIPLQKKSDITYFKTMPDLHSQPVL
FIPDVHFANLQRTGQVYYNTDDEREGGSVLVKRMFRPMEEEFGPVPSKQMKEEGTKRVLL
YVRKETDDVFDALMLKSPTVKGLMEAISEKYGLPVEKIAKLYKKSKKGILVNMDDNIIEH
YSNEDTFILNMESMVEGFKVTLMEI
NT seq 1878 nt   +upstreamnt  +downstreamnt
atgtcacaagagtcggacaataataaaagactagtggccttagtgcccatgcccagtgac
cctccattcaatacccgaagagcctacaccagtgaggatgaagcctggaagtcatacttg
gagaatcccctgacagcagccaccaaggccatgatgagcattaatggtgatgaggacagt
gctgctgccctcggcctgctctatgactactacaaggttcctcgagacaagaggctgctg
tctgtaagcaaagcaagtgacagccaagaagaccaggagaaaagaaactgccttggcacc
agtgaagcccagagtaatttgagtggaggagaaaaccgagtgcaagtcctaaagactgtt
ccagtgaacctttccctaaatcaagatcacctggagaattccaagcgggaacagtacagc
atcagcttccccgagagctctgccatcatcccggtgtcgggaatcacggtggtgaaagct
gaagatttcacaccagttttcatggccccacctgtgcactatccccggggagatggggaa
gagcaacgagtggttatctttgaacagactcagtatgacgtgccctcgctggccacccac
agcgcctatctcaaagacgaccagcgcagcactccggacagcacatacagcgagagcttc
aaggacgcagccacagagaaatttcggagtgcttcagttggggctgaggagtacatgtat
gatcagacatcaagtggcacatttcagtacaccctggaagccaccaaatctctccgtcag
aagcagggggagggccccatgacctacctcaacaaaggacagttctatgccataacactc
agcgagaccggagacaacaaatgcttccgacaccccatcagcaaagtcaggagtgtggtg
atggtggtcttcagtgaagacaaaaacagagatgaacagctcaaatactggaaatactgg
cactctcggcagcatacggcgaagcagagggtccttgacattgccgattacaaggagagc
tttaatacgattggaaacattgaagagattgcatataatgctgtttcctttacctgggac
gtgaatgaagaggcgaagattttcatcaccgtgaattgcttgagcacagatttctcctcc
caaaaaggggtgaaaggacttcctttgatgattcagattgacacatacagttataacaat
cgtagcaataaacccattcatagagcttattgccagatcaaggtcttctgtgacaaagga
gcagaaagaaaaatccgagatgaagagcggaagcagaacaggaagaaagggaaaggccag
gcctcccaaactcaatgcaacagctcctctgatgggaagttggctgccatacctttacag
aagaagagtgacatcacctacttcaaaaccatgcctgatctccactcacagccagttctc
ttcatacctgatgttcactttgcaaacctgcagaggaccggacaggtgtattacaacacg
gatgatgaacgagaaggtggcagtgtccttgttaaacggatgttccggcccatggaagag
gagtttggtccagtgccttcaaagcagatgaaagaagaagggacaaagcgagtgctcttg
tacgtgaggaaggagactgacgatgtgttcgatgcattgatgttgaagtctcccacagtg
aagggcctgatggaagcgatatctgagaaatatgggctgcccgtggagaagatagcaaag
ctttacaagaaaagcaaaaaaggcatcttggtgaacatggatgacaacatcatcgagcac
tactcgaacgaggacaccttcatcctcaacatggagagcatggtggagggcttcaaggtc
acgctcatggaaatctag

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