KEGG   Homo sapiens (human): 9968
Entry
9968              CDS       T01001                                 
Symbol
MED12, ARC240, CAGH45, FGS1, HDKR, HOPA, Kto, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230
Name
(RefSeq) mediator complex subunit 12
  KO
K15162  mediator of RNA polymerase II transcription subunit 12
Organism
hsa  Homo sapiens (human)
Pathway
hsa04919  Thyroid hormone signaling pathway
Disease
H00889  Lujan-Fryns syndrome
H00894  FG syndrome
H01640  Uterine leiomyoma
H01795  Blepharophimosis-mental retardation syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04919 Thyroid hormone signaling pathway
    9968 (MED12)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    9968 (MED12)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Mediator complex
    CDK-module
     9968 (MED12)
SSDB
Motif
Pfam: Med12-LCEWAV Med12-PQL Med12
Other DBs
NCBI-GeneID: 9968
NCBI-ProteinID: NP_005111
OMIM: 300188
HGNC: 11957
Ensembl: ENSG00000184634
UniProt: Q93074
Position
X:71118596..71142450
AA seq 2177 aa
MAAFGILSYEHRPLKRPRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAK
NVSFNPAKISSNFSSIIAEKLRCNTLPDTGRRKPQVNQKDNFWLVTARSQSAINTWFTDL
AGTKPLTQLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAISETKVKKRHV
DPFMEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHDVEVAIRQWDYTEKLA
MFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYF
CTRRLALQLDGVSSHSSHVISAQSTSTLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVF
GLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAK
LREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSL
CNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAER
CGESEAADEKGSIASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLF
CELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPADDPEHKEAEGSSSSKLEDP
GLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPPKEKIEG
TLGVLYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILK
VLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYD
QHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNEL
SVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMN
RSDGSSAERCILAYLYDLYTSCSHLKNKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPE
FMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAE
LTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQC
LLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIR
SSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVTGGTEELPEEEGGGGSGG
RRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRL
MQLICYPHRLLDNEDGENPQRQRIKRILQNLDQWTMRQSSLELQLMIKQTPNNEMNSLLE
NIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQ
GHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLL
TSLYSQVHQIVNNWRDDQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAML
LLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLAKKL
QKELGERQSDSLEKVRQLLPLPKQTRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVS
TKQKISPWDLFEGLKPSAPLSWGWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLE
PLPLPPEDEEPPAPTLLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKTE
DYGMGPGRSGPYGVTVPPDLLHHPNPGSITHLNYRQGSIGLYTQNQPLPAGGPRVDPYRP
VRLPMQKLPTRPTYPGVLPTTMTGVMGLEPSSYKTSVYRQQQPAVPQGQRLRQQLQQSQG
MLGQSSVHQMTPSSSYGLQTSQGYTPYVSHVGLQQHTGPAGTMVPPSYSSQPYQSTHPST
NPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMISTMTPMSAQGVQA
GVRSTAILPEQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQILRQQQQQQQQQQQ
QQQQQQQQQQQQQQQHQQQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQ
QLSNTQPQPSTNIFGRY
NT seq 6534 nt   +upstreamnt  +downstreamnt
atggcggccttcgggatcttgagctacgaacaccggcccctgaagcggccgcggctgggg
cctcccgatgtttaccctcaggaccccaaacagaaggaggatgaactgacggccttgaat
gtaaaacaaggtttcaataaccagcctgctgtctctggggatgagcatggcagtgccaag
aacgtcagcttcaatcctgccaagatcagttccaacttcagcagcattattgcagagaaa
ttacgttgtaatacccttcctgacactggtcgcaggaagccccaagtgaaccagaaggat
aacttctggctggtgactgcacgatcccagagtgccattaacacttggttcactgacttg
gctggcaccaagccactcacgcaactagccaaaaaggtccccattttcagtaagaaggaa
gaggtgtttgggtacttagccaaatacacagtgcctgtgatgcgggctgcctggctcatt
aagatgacctgtgcctactatgcagcaatctctgagaccaaggttaagaagagacatgtt
gaccctttcatggaatggactcagatcatcaccaagtacttatgggagcagttacagaag
atggctgaatactaccggccagggcctgcaggaagtgggggctgtggttccacgataggg
cccttgccccatgatgtagaggtggcaatccggcagtgggattacaccgagaagctggcc
atgttcatgtttcaggatggaatgctggacagacatgagttcctgacctgggtgcttgag
tgttttgagaagatccgccctggagaggatgaattgcttaaactgctgctgcctctgctt
ctccgatactctggggaatttgttcagtctgcatacctgtcccgccggcttgcctacttc
tgtacacggagactggccctgcagctggatggtgtgagcagtcactcatctcatgttata
tctgctcagtcaacaagcacgctacccaccacccctgctcctcagcccccaactagcagc
acaccctcgactccctttagtgacctgcttatgtgccctcagcaccggcccctggttttt
ggcctcagctgtatcctacagaccatcctcctgtgctgtcctagtgccttggtttggcac
tactcactgactgatagcagaattaagaccggctcaccacttgaccacttgcctattgcc
ccgtccaacctgcccatgccagagggtaacagtgccttcactcagcaggtccgtgcaaag
ttgcgggagatcgagcagcagatcaaggagcggggacaggcagttgaagttcgctggtct
ttcgataaatgccaggaagctactgcaggcttcaccattggacgggtacttcatactttg
gaagtgctggacagccatagttttgaacgctctgacttcagcaactctcttgactccctt
tgtaaccgaatctttggattgggacctagcaaggatgggcatgagatctcctcagatgat
gatgctgtggtgtcattgctatgtgaatgggctgtcagctgcaagcgttctggtcggcat
cgtgctatggtggtagccaagctcctggagaagagacaggcggagattgaggctgagcgt
tgtggagaatcagaagccgcagatgagaagggttccatcgcctctggctccctttctgct
cccagtgctcccattttccaggatgtcctcctgcagtttctggatacacaggctcccatg
ctgacggaccctcgaagtgagagtgagcgggtggaattctttaacttagtactgctgttc
tgtgaactgattcgacatgatgttttctcccacaacatgtatacttgcactctcatctcc
cgaggggaccttgcctttggagcccctggtccccggcctccctctccctttgatgatcct
gccgatgacccagagcacaaggaggctgaaggcagcagcagcagcaagctggaagatcca
gggctctcagaatctatggacattgaccctagttccagtgttctctttgaggacatggag
aagcctgatttctcattgttctcccctactatgccctgtgaggggaagggcagtccatcc
cctgagaagccagatgtcgagaaggaggtgaagcccccacccaaggagaagattgaaggg
acccttggggttctttacgaccagccacgacacgtgcagtacgccacccattttcccatc
ccccaggaggagtcatgcagccatgagtgcaaccagcggttggtcgtactgtttggggtg
ggaaagcagcgagatgatgcccgccatgccatcaagaaaatcaccaaggatatcttgaag
gttctgaaccgcaaagggacagcagaaactgaccagcttgctcctattgtgcctctgaat
cctggagacctgacattcttaggtggggaggatgggcagaagcggcgacgcaaccggcct
gaagccttccccactgctgaagatatctttgctaagttccagcacctttcacattatgac
caacaccaggtcacggctcaggtctcccggaatgttctggagcagatcacgagctttgcc
cttggcatgtcataccacttgcctctggtgcagcatgtgcagttcatcttcgacctcatg
gaatattcactcagcatcagtggcctcatcgactttgccattcagctgctgaatgaactg
agtgtagttgaggctgagctgcttctcaaatcctcggatctggtgggcagctacactact
agcctgtgcctgtgcatcgtggctgtcctgcggcactatcatgcctgcctcatcctcaac
caggaccagatggcacaggtctttgaggggctgtgtggcgtcgtgaagcatgggatgaac
cggtccgatggctcctctgcagagcgctgtatccttgcttatctctatgatctgtacacc
tcctgtagccatttaaagaacaaatttggggagctcttcagcgacttttgctcaaaggtg
aagaacaccatctactgcaacgtggagccatcggaatcaaatatgcgctgggcacctgag
ttcatgatcgacactctagagaaccctgcagctcacaccttcacctacacggggctaggc
aagagtcttagtgagaaccctgctaaccgctacagctttgtctgcaatgcccttatgcac
gtctgtgtggggcaccatgatcccgatagggtgaatgacatcgcaatcctgtgtgcagag
ctgaccggctattgcaagtcactgagtgcagaatggctaggagtgcttaaggccttgtgc
tgctcctctaacaatggcacttgtggtttcaacgatctcctctgcaatgttgatgtcagt
gacctatcttttcatgactcgctggctacttttgttgccatcctcatcgctcggcagtgt
ttgctcctggaagatctgattcgctgtgctgccatcccttcactccttaatgctgcttgt
agtgaacaggactctgagccaggggcccggcttacctgccgcatcctccttcaccttttc
aagacaccgcagctcaatccttgccagtctgatggaaacaagcctacagtaggaatccgc
tcctcctgcgaccgccacctgctggctgcctcccagaaccgcatcgtggatggagccgtg
tttgctgttctcaaggctgtgtttgtacttggggatgcggaactgaaaggttcaggcttc
actgtgacaggaggaacagaagaacttccagaggaggagggaggaggtggcagtggtggt
cggaggcagggtggccgcaacatctctgtggagacagccagtctggatgtctatgccaag
tacgtgctgcgcagcatctgccaacaggaatgggtaggagaacgttgccttaagtctctg
tgtgaggacagcaatgacctgcaagacccagtgttgagtagtgcccaggcgcagcgcctc
atgcagctcatttgctatccacatcgactgctggacaatgaggatggggaaaacccccag
cggcagcgcataaagcgcattctccagaacttggaccagtggaccatgcgccagtcttcc
ttggagctgcagctcatgatcaagcagacccctaacaatgagatgaactccctcttggag
aacatcgccaaggccacaatcgaggttttccaacagtcagcagagacagggtcatcttct
ggaagtactgcaagcaacatgcccagcagcagcaagaccaagcctgtgctcagctctcta
gagcgctctggtgtatggctggtggcccccctcattgctaaactgcccacctcagtccag
ggacatgtgttaaaggctgctggggaagaattggagaagggtcagcacctgggttcctct
tcacgcaaagaacgtgatcgacaaaagcagaagagcatgtccctattgagccagcagccc
ttcttatcgctggtgctaacatgtctgaaagggcaggatgaacaacgcgagggactcctt
acctccctctacagccaggtgcaccagattgtgaataattggcgagatgaccagtactta
gatgattgcaaaccaaagcagcttatgcatgaggcactcaaactgcggctcaacctggtg
gggggcatgtttgacacggtgcagcgcagcacccagcagaccacggagtgggccatgctc
ctcctggagatcatcatcagcggcactgtcgacatgcagtccaacaatgagctcttcact
actgtgttggacatgctgagcgtgctcatcaatgggacattggctgcagacatgtctagc
atctcgcaaggtagcatggaggaaaacaagcgtgcatacatgaacctggcgaagaagttg
cagaaggagttgggggagcgccagtcagacagtctggaaaaggttcgccagctgctgcca
ctgcccaagcagacccgagatgtcatcacgtgtgagccacagggctcccttatcgatacc
aagggcaacaagattgctggcttcgattccatcttcaagaaggagggtctacaggtttcc
accaaacagaagatctcgccctgggatctttttgaggggttgaagccgtcagcaccactc
tcttggggctggtttggaacagtccgagtggaccggcgagtggctcgaggagaggagcag
cagcggttgctgctctaccacacacacctgaggccccggccccgcgcctattacctggag
ccactgccactgcccccagaagatgaggagccgcctgctcctaccctgctagagcctgag
aaaaaggctccagagccccccaaaactgacaaaccgggggctgctccacccagtactgag
gaacgcaagaagaagtccaccaagggcaagaaacgcagccagccagctaccaagacagag
gactatggaatgggcccgggtcggagcggcccttatggtgtgacagtgcctccggacctc
ctgcaccacccaaaccctggttctataacacaccttaactacaggcaaggctccataggc
ctgtacacccagaaccagccactacctgcaggtggccctcgtgtggacccataccgtcct
gtgcgcttaccaatgcagaagctgcccacccgaccaacttaccctggagtgctgcccaca
accatgactggcgtcatgggtttagaaccctcctcttataagacctctgtgtaccggcag
cagcaacctgcggtgccccaaggacagcgccttcgccaacagctccagcagagtcagggc
atgttgggacagtcatctgtccatcagatgactcccagctcttcctacggtttgcagact
tcccagggctatactccttatgtttctcatgtgggattgcagcaacacacaggccctgca
ggtaccatggtgccccccagctactccagccagccttaccagagcacccacccttctacc
aatcctactcttgtagatcctacccgccacctgcaacagcggcccagtggctatgtgcac
cagcaggcccccacctatggacatggactgacctccactcaaaggttttcacaccagaca
ctgcagcagacacccatgataagtaccatgactccaatgagtgcccagggcgtccaggca
ggcgtccgttcaacagccatcctacctgagcagcagcagcagcagcaacagcagcaacag
caacagcagcagcagcagcaacagcaacagcagcagcagcagcagcagtaccacatccgg
cagcagcagcagcagcagatcctgcggcagcagcagcaacagcaacagcagcagcagcag
cagcagcaacagcaacagcagcagcagcaacagcaacaacagcaacaccagcagcaacag
cagcaacaggcggctcctccccaaccccagccccagtcccagccccagttccagcgccag
gggcttcagcagacccagcagcagcaacagacagcagctttggtccggcaacttcaacaa
cagctctctaatacccagccacagcccagtaccaacatatttggacgctactga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (35)   
   RefSeq(nuc) (13)   
   GenBank (11)   
   EMBL (11)   
Protein domain (3)   
   Pfam (3)   
All databases (89)   

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