Gene Gene information from NCBI Gene database.
Entrez ID 9969
Gene name Mediator complex subunit 13
Gene symbol MED13
Synonyms (NCBI Gene)
ARC250DRIP250HSPC221MRD61THRAP1TRAP240
Chromosome 17
Chromosome location 17q23.2
Summary This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activ
SNPs SNP information provided by dbSNP.
12
SNP ID Visualize variation Clinical significance Consequence
rs773685207 G>A,C,T Pathogenic Stop gained, missense variant, synonymous variant, coding sequence variant
rs780070113 A>G,T Pathogenic Stop gained, missense variant, coding sequence variant
rs1044065786 G>A,C Pathogenic Missense variant, coding sequence variant, stop gained
rs1567938478 G>A Likely-pathogenic Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567940265 C>T Pathogenic Coding sequence variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
945
miRTarBase ID miRNA Experiments Reference
MIRT003912 hsa-miR-208a-3p Luciferase reporter assayqRT-PCRWestern blot 17379774
MIRT003912 hsa-miR-208a-3p Luciferase reporter assayqRT-PCRWestern blot 17379774
MIRT019505 hsa-miR-151a-3p Sequencing 20371350
MIRT027154 hsa-miR-103a-3p Sequencing 20371350
MIRT031923 hsa-miR-16-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0003712 Function Transcription coregulator activity IDA 10198638
GO:0003712 Function Transcription coregulator activity IEA
GO:0003713 Function Transcription coactivator activity IBA
GO:0003713 Function Transcription coactivator activity IDA 12218053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603808 22474 ENSG00000108510
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHV7
Protein name Mediator of RNA polymerase II transcription subunit 13 (Activator-recruited cofactor 250 kDa component) (ARC250) (Mediator complex subunit 13) (Thyroid hormone receptor-associated protein 1) (Thyroid hormone receptor-associated protein complex 240 kDa com
Protein function 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 basal RN
PDB 8T9D , 8TQ2 , 8TQC , 8TQW , 8TRH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18296 MID_MedPIWI 1367 1724 MID domain of medPIWI Domain
PF06333 Med13_C 1760 2163 Mediator complex subunit 13 C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10198638}.
Sequence
MSASFVPNGASLEDCHCNLFCLADLTGIKWKKYVWQGPTSAPILFPVTEEDPILSSFSRC
LKADVLGVWRRDQRPGRRELWIFWWGEDPSFADLIHHDLSEEEDGVWENGLSYECRTLLF
KAVHNLLERCLMNRNFVRIGKWFVKPYEKDEKPINKSEHLSCSFTFFLHGDSNVCTSVEI
NQHQPVYLLSEEHITLAQQSNSPFQVILCPFGLNGTLTGQAFKMSDSATKKLIGEWKQFY
PISCCLKEMSEEKQEDMDWEDDSLAAVEVLVAGVRMIYPACFVLVPQSDIPTPSPVGSTH
CSSSCLGVHQVPASTRDPAMSSVTLTPPTSPEEVQTVDPQSVQKWVKFSSVSDGFNSDST
SHHGGKIPRKLANHVVDRVWQECNMNRAQNKRKYSASSGGLCEEATAAKVASWDFVEATQ
RTNCSCLRHKNLKSRNAGQQGQAPSLGQQQQILPKHKTNEKQEKSEKPQKRPLTPFHHRV
SVSDDVGMDADSASQRLVISAPDSQVRFSNIRTNDVAKTPQMHGTEMANSPQPPPLSPHP
CDVVDEGVTKTPSTPQSQHFYQMPTPDPLVPSKPMEDRIDSLSQSFPPQYQEAVEPTVYV
GTAVNLEEDEANIAWKYYKFPKKKDVEFLPPQLPSDKFKDDPVGPFGQESVTSVTELMVQ
CKKPLKVSDELVQQYQIKNQCLSAIASDAEQEPKIDPYAFVEGDEEFLFPDKKDRQNSER
EAGKKHKVEDGTSSVTVLSHEEDAMSLFSPSIKQDAPRPTSHARPPSTSLIYDSDLAVSY
TDLDNLFNSDEDELTPGSKKSANGSDDKASCKESKTGNLDPLSCISTADLHKMYPTPPSL
EQHIMGFSPMNMNNKEYGSMDTTPGGTVLEGNSSSIGAQFKIEVDEGFCSPKPSEIKDFS
YVYKPENCQILVGCSMFAPLKTLPSQYLPPIKLPEECIYRQSWTVGKLELLSSGPSMPFI
KEGDGSNMDQEYGTAYTPQTHTSFGMPPSSAPPSNSGAGILPSPSTPRFPTPRTPRTPRT
PRGAGGPASAQGSVKYENSDLYSPASTPSTCRPLNSVEPATVPSIPEAHSLYVNLILSES
VMNLFKDCNFDSCCICVCNMNIKGADVGVYIPDPTQEAQYRCTCGFSAVMNRKFGNNSGL
FLEDELDIIGRNTDCGKEAEKRFEALRATSAEHVNGGLKESEKLSDDLILLLQDQCTNLF
SPFGAADQDPFPKSGVISNWVRVEERDCCNDCYLALEHGRQFMDNMSGGKVDEALVKSSC
LHPWSKRNDVSMQCSQDILRMLLSLQPVLQDAIQKKRTVRPWGVQGPLTWQQFHKMAGRG
SYGTDESPEPLPIPTFLLGYDYDYLVLSPFALPYWERLMLEPYGSQRDIAYVVLCPENEA
LLNGAKSFFRDLTAIYESCRLGQHRPVSRLLTDGIMRVGSTASKKLSEKLVAEWFSQAAD
GNNEAFSKLKLYAQVCRYDLGPYLASLPLDSSLLSQPNLVAPTSQSLITPPQMTNTGNAN
TPSATLASAASSTMTVTSGVAISTSVATANSTLTTASTSSSSSSNLNSGVSSNKLPSFPP
FGSMNSNAAGSMSTQANTVQSGQLGGQQTSALQTAGISGESSSLPTQPHPDVSESTMDRD
KVGIPTDGDSHAVTYPPAIVVYIIDPFTYENTDESTNSSSVWTLGLLRCFLEMVQTLPPH
IKSTVSVQIIPCQYLLQPVKHEDREIYPQHLKSLAFSAFTQCRR
PLPTSTNVKTLTGFGP
GLAMETALRSPDRPECIRLYAPPFILAPVKDKQTELGETFGEAGQKYNVLFVGYCLSHDQ
RWILASCTDLYGELLETCIINIDVPNRARRKKSSARKFGLQKLWEWCLGLVQMSSLPWRV
VIGRLGRIGHGELKDWSCLLSRRNLQSLSKRLKDMCRMCGISAADSPSILSACLVAMEPQ
GSFVIMPDSVSTGSVFGRSTTLNMQTSQLNTPQDTSCTHILVFPTSASVQVASATYTTEN
LDLAFNPNNDGADGMGIFDLLDTGDDLDPDIINILPASPTGSPVHSPGSHYPHGGDAGKG
QSTDRLLSTEPHEEVPNILQQPLALGYFVSTAKAGPLPDWFWSACPQAQYQCPLFLKASL
HLHVPSVQSDELLHSKHSHPLDSNQTSDVLRFVLEQYNALSWLTCDPATQDRRSCLPIHF
VVL
NQLYNFIMNML
Sequence length 2174
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thyroid hormone signaling pathway   PPARA activates gene expression
Generic Transcription Pathway
Transcriptional regulation of white adipocyte differentiation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
167
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CDK8-kinase module-associated disorder Likely pathogenic rs1567938478 RCV000735245
Intellectual developmental disorder 61 Likely pathogenic; Pathogenic rs2143672313, rs2143471373, rs2143687619, rs2143386698, rs750570850, rs2509281902, rs2509282203, rs2509241751, rs2509205248, rs2509275463, rs2509243601, rs1300242966, rs2509246568, rs2509216769, rs780070113
View all (4 more)
RCV001779499
RCV002272624
RCV002272993
RCV002274479
RCV002274480
RCV002287635
RCV003985872
RCV002467480
RCV003148232
RCV003152958
RCV003224937
RCV003314064
RCV003320347
RCV004577421
RCV000999501
RCV000999500
RCV000999503
RCV001252060
RCV005634011
MED13-related disorder Likely pathogenic rs2509282650 RCV003414433
Neurodevelopmental disorder Likely pathogenic rs752067544 RCV002277704
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs114013865 RCV005903778
Autism spectrum disorder Likely benign rs2509170579, rs2509281729 RCV003127315
RCV003127316
Autistic behavior Uncertain significance rs2080074570 RCV001255850
Cervical cancer Uncertain significance; Benign rs2509275382, rs114013865 RCV005927054
RCV005903781
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 37512036
Androgen Insensitivity Syndrome Associate 23259508
Attention Deficit Disorder with Hyperactivity Associate 29740699
Autism Spectrum Disorder Associate 29740699, 32553196
Breast Neoplasms Associate 11331760, 27506935
Colorectal Neoplasms Associate 27129500, 29507187
Developmental Disabilities Associate 29740699, 37512036, 38453051
Diastrophic dysplasia Associate 29740699
Duane Retraction Syndrome Associate 29740699
Ectrodactyly cardiopathy dysmorphism Associate 40113094