Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
116931
Gene name Gene Name - the full gene name approved by the HGNC.
Mediator complex subunit 12L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MED12L
Synonyms (NCBI Gene) Gene synonyms aliases
NIZIDS, NOPAR, TNRC11L, TRALP, TRALPUSH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NIZIDS
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1559855453 ->C Pathogenic Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1560115921 C>T Pathogenic Stop gained, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028147 hsa-miR-93-5p Sequencing 20371350
MIRT042329 hsa-miR-484 CLASH 23622248
MIRT208722 hsa-miR-19a-3p PAR-CLIP 20371350
MIRT208723 hsa-miR-19b-3p PAR-CLIP 20371350
MIRT208731 hsa-miR-3662 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0006357 Process Regulation of transcription by RNA polymerase II IBA 21873635
GO:0008013 Function Beta-catenin binding IEA
GO:0008134 Function Transcription factor binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611318 16050 ENSG00000144893
Protein
UniProt ID Q86YW9
Protein name Mediator of RNA polymerase II transcription subunit 12-like protein (Mediator complex subunit 12-like protein) (Thyroid hormone receptor-associated-like protein) (Trinucleotide repeat-containing gene 11 protein-like)
Protein function May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09497 Med12 105 161 Transcription mediator complex subunit Med12 Domain
PF12145 Med12-LCEWAV 283 730 Eukaryotic Mediator 12 subunit domain Domain
PF12144 Med12-PQL 1802 2019 Eukaryotic Mediator 12 catenin-binding domain Domain
Sequence
MAAFGLLSYEQRPLKRPRLGPPDVYPQDPKQKEDELTAVNVKQGFNNQPAFTGDEHGSAR
NIVINPSKIGAYFSSILAEKLKLNTFQDTGKKKPQVNAKDNYWLVTARSQSAIHSWFSDL
AGNKPLSILAKKVPILSKKEDVFAYLAKYSVPMVRATWLIK
MTCAYYSAISEAKIKKRQA
PDPNLEWTQISTRYLREQLAKISDFYHMASSTGDGPVPVPPEVEQAMKQWEYNEKLAFHM
FQEGMLEKHEYLTWILDVLEKIRPMDDDLLKLLLPLMLQYSDEFVQSAYLSRRLAYFCAR
RLSLLLSDSPNLLAAHSPHMMIGPNNSSIGAPSPGPPGPGMSPVQLAFSDFLSCAQHGPL
VYGLSCMLQTVTLCCPSALVWNYSTNENKSANPGSPLDLLQVAPSSLPMPGGNTAFNQQV
RARIYEVEQQIKQRGRAVEVRWSFDKCQESTAGVTISRVLHTLEVLDRHCFDRTDSSNSM
ETLYHKIFWANQNKDNQEVAPNDEAVVTLLCEWAVSCKRSGKHRAMAVAKLLEKRQAEIE
AERCGESEVLDEKESISSSSLAGSSLPVFQNVLLRFLDTQAPSLSDPNSECEKVEFVNLV
LLFCEFIRHDVFSHDAYMCTLISRGDLSVTASTRPRSPVGENADEHYSKDHDVKMEIFSP
MPGESCENANTSLGRRMSVNCEKLVKREKPRELIFPSNYDLLRHLQYATHFPIPLDESSS
HECNQRTILL
YGVGKERDEARHQLKKITKDILKILNKKSTTETGVGDEGQKARKNKQETF
PTLETVFTKLQLLSYFDQHQVTSQISNNVLEQITSFASGTSYHLPLAHHIQLIFDLMEPA
LNINGLIDFAIQLLNELSVVEAELLLKSSSLAGSYTTGLCVCIVAVLRRYHSCLILNPDQ
TAQVFEGLCGVVKHVVNPSECSSPERCILAYLYDLYVSCSHLRSKFGDLFSSACSKVKQT
IYNNVMPANSNLRWDPDFMMDFIENPSARSINYSMLGKILSDNAANRYSFVCNTLMNVCM
GHQDAGRINDIANFSSELTACCTVLSSEWLGVLKALCCSSNHVWGFNDVLCTVDVSDLSF
HDSLATFIAILIARQCFSLEDVVQHVALPSLLAAACGDADAEPGARMTCRLLLHLFRAPQ
ACFLPQATGKPFPGIRSSCDRHLLAAAHNSIEVGAVFAVLKAIMMLGDAKIGNNSVSSLK
NDDFTMRGLRCDGNADDIWTASQNPKSCGKSISIETANLREYARYVLRTICQQEWVGEHC
LKEPERLCTDKELILDPVLSNMQAQKLLQLICYPHGIKECTEGDNLQRQHIKRILQNLEQ
WTLRQSWLELQLMIKQCLKDPGSGSVAEMNNLLDNIAKATIEVFQQSADLNNSSNSGMSL
FNPNSIGSADTSSTRQNGIKTFLSSSERRGVWLVAPLIARLPTSVQGRVLKAAGEELEKG
QHLGSSSKKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLLTSLQNQVNQILSNW
REERYQDDIKARQMMHEALQLRLNLVGGMFDTVQRSTQWTTDWALLLLQIITSGTVDMHT
NNELFTTVLDMLGVLINGTLASDLSNASPGGSEENKRAYMNLVKKLKKELGDKRSESIDK
VRQLLPLPKQTCDVITCEPMGSLIDTKGNKIAGFDSIDKKQGLQVSTKQKVSPWDLFEGQ
KNPAPLSWAWFGTVRVDRRVIKYEEQHHLLLYHTHPMPKPRSYYLQPLPLPPEEEEEEPT
SPVSQEPERKSAELSDQGKTTTDEEKKTKGRKRKTKSSSRVDEYPQSNIYRVPPNYSPIS
SQMMHHPQSTLWGYNLVGQPQQPGFFLQNQSLTPGGSRLDPAGSFVPTNTKQALSNMLQR
RSGAMMQPPSLHAITSQQQLIQMKLLQQQQQQRLLRQAQTRPFQQGQPGDQAALFAAQAR
PSPQLPQYPGLQQAQTMPQGYTMYGTQMPLQQTSQQQAGSVVLSPSYNSRAYPAAHSNPV
LMERLRQIQQQPSGYVQQQASPYLQPLTGSQRLNHQALQ
QSPLVGGGIDAVLTSAHPNLP
SVPLPQDPMRPRQPQVRQQQRLLQMQQPQQPQPQQPPQPQQSSQSQSQTLGLQAMQPQQP
LFPRQGLQQTQQQQQTAALVRQLQKQLSSNQPQQGVTPYGHPSHF
Sequence length 2145
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Thyroid hormone signaling pathway  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
30514930
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
31155615
Non-syndromic intellectual disability Autosomal dominant non-syndromic intellectual disability rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Platelet-type bleeding disorder Bleeding Disorder Due To P2RY12 Defect rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972
View all (26 more)
Unknown
Disease term Disease name Evidence References Source
Non-Syndromic Intellectual Disability autosomal dominant non-syndromic intellectual disability GenCC
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 31155615
Autism Spectrum Disorder Associate 31155615
Congenital Abnormalities Associate 31155615
Developmental Disabilities Associate 31155615
Epilepsy Associate 35175489
Intellectual Disability Associate 31155615
Myocardial Infarction Associate 30143348
Prostatic Neoplasms Associate 28067867
Prostatic Neoplasms Castration Resistant Associate 28067867
Pulmonary Atelectasis Associate 34089082