Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9969
Gene name Gene Name - the full gene name approved by the HGNC.
Mediator complex subunit 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MED13
Synonyms (NCBI Gene) Gene synonyms aliases
ARC250, DRIP250, HSPC221, MRD61, THRAP1, TRAP240
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRD61
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003912 hsa-miR-208a-3p Luciferase reporter assay, qRT-PCR, Western blot 17379774
MIRT003912 hsa-miR-208a-3p Luciferase reporter assay, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IBA 21873635
GO:0003712 Function Transcription coregulator activity IDA 10198638
GO:0003713 Function Transcription coactivator activity IDA 12218053
GO:0005634 Component Nucleus IDA 10235267
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603808 22474 ENSG00000108510
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019 29740699
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
29740699
Mental retardation Moderate intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
29740699
Ovarian cancer Malignant neoplasm of ovary rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828
View all (31 more)
21964575
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Parkinson Disease Parkinson Disease GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
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