Gene Gene information from NCBI Gene database.
Entrez ID 116931
Gene name Mediator complex subunit 12L
Gene symbol MED12L
Synonyms (NCBI Gene)
NIZIDSNOPARTNRC11LTRALPTRALPUSH
Chromosome 3
Chromosome location 3q25.1
Summary 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.
2
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.
441
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IEA
GO:0003713 Function Transcription coactivator activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0006357 Process Regulation of transcription by RNA polymerase II IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611318 16050 ENSG00000144893
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
90
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Pathogenic rs1560115921, rs1560108090, rs1560103306, rs1559855453 RCV000779622
RCV000779623
RCV000779624
RCV000779625
Nizon-Isidor syndrome Likely pathogenic; Pathogenic rs878982061, rs2149096532, rs1724263784, rs2473572861, rs2474008510, rs2473757315, rs2474225919, rs2473757305, rs1560069336, rs2530392269, rs1560108090, rs1723551652, rs1711989766 RCV001537880
RCV001724765
RCV002272608
RCV002283789
RCV002468850
RCV003147873
RCV003335899
RCV003387613
RCV003444083
RCV003492904
RCV001090066
RCV001090064
RCV001090065
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs771092834, rs186287395 RCV005926965
RCV005939021
Developmental disorder Likely benign; Uncertain significance rs1237286376, rs2473957992, rs1723870830 RCV003127995
RCV003127996
RCV003764465
MED12L-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs761030969, rs138249004, rs199730852, rs748555256, rs2474209969, rs1714002662, rs2474224895, rs2473681844, rs1713987552, rs2473613799, rs1755452288, rs768984130, rs753466604, rs1380964632, rs369982334
View all (11 more)
RCV003418431
RCV003900915
RCV003963794
RCV003402482
RCV003404211
RCV003417157
RCV003402372
RCV003416726
RCV003412520
RCV003421192
RCV003420723
RCV003400023
RCV003402750
RCV003410785
RCV003921455
RCV003981474
RCV003981669
RCV003911950
RCV003899316
RCV003901365
RCV003941758
RCV003959571
RCV003949862
RCV003969254
RCV003971584
RCV003962309
MED12L-related neurodevelopmental disorder Uncertain significance rs2473537987, rs150905004 RCV002467382
RCV001270761
Associations from Text MiningDisease associations identified through Pubtator
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