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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Pathogenic rs1560115921, rs1560108090, rs1560103306, rs1559855453 RCV000779622
RCV000779623
RCV000779624
RCV000779625
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nizon-Isidor syndrome Likely pathogenic; Pathogenic rs878982061, rs2149096532, rs1724263784, rs2473572861, rs2474008510, rs2473757315, rs2474225919, rs2473757305, rs1560069336, rs2530392269, rs1560108090, rs1723551652, rs1711989766 RCV001537880
RCV001724765
RCV002272608
RCV002283789
RCV002468850
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER DUE TO P2RY12 DEFECT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 31155615 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 30514930
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 31155615 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability Non-Syndromic Intellectual Disability Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bleeding Disorder Due To P2RY12 Defect Platelet-type bleeding disorder CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay Motor delay GENOMICS_ENGLAND_DG 31155615
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 31155615 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 31155615 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diverticular Diseases Diverticular Diseases GWASCAT_DG 30177863
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 35175489 Associate
★☆☆☆☆
Found in Text Mining only