Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9968
Gene name Gene Name - the full gene name approved by the HGNC.	Mediator complex subunit 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MED12
Synonyms (NCBI Gene) Gene synonyms aliases	ARC240, CAGH45, FGS1, HDKR, HOPA, Kto, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.	The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subco

Show/Hide all(51)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338758	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs80338759	A>G	Pathogenic	Coding sequence variant, missense variant
rs138984044	T>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs187377817	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs192656109	C>T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs202009066	A>G	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs202120461	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202125318	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs369083173	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs372344160	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376058351	A>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387907360	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs387907361	T>C	Pathogenic	Missense variant, coding sequence variant
rs387907362	C>A	Pathogenic	Missense variant, coding sequence variant
rs397515554	G>A	Pathogenic	Missense variant, coding sequence variant
rs398124197	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs531754497	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587780391	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs727503868	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs757160341	CAG>-,CAGCAG,CAGCAGCAG	Benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs759857680	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs762905361	G>A	Pathogenic	Coding sequence variant, missense variant
rs765417606	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794727576	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794727673	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs797045698	C>A,T	Likely-benign, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs863223696	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs867655376	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs879255526	A>G	Pathogenic	Missense variant, coding sequence variant
rs879255527	->C	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs879255528	G>T	Uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant
rs886041581	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057518921	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519381	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519912	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521988	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307941	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691350	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1255849432	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1266845318	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1556334114	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556334780	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556334793	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556334969	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556337085	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556338764	->GGCG	Pathogenic	Frameshift variant, coding sequence variant
rs1556340124	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1569481124	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569482153	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569482431	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602299778	G>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051310	hsa-miR-16-5p	CLASH	23622248
MIRT050915	hsa-miR-17-5p	CLASH	23622248
MIRT049860	hsa-miR-31-5p	CLASH	23622248
MIRT048665	hsa-miR-99a-5p	CLASH	23622248
MIRT048529	hsa-miR-100-5p	CLASH	23622248
MIRT048529	hsa-miR-100-5p	CLASH	23622248
MIRT048228	hsa-miR-196a-5p	CLASH	23622248
MIRT047700	hsa-miR-10a-5p	CLASH	23622248
MIRT044626	hsa-miR-320a	CLASH	23622248
MIRT039241	hsa-miR-454-3p	CLASH	23622248

Show/Hide all(45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0003682	Function	Chromatin binding	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	12037571, 12218053
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	NAS	10235266
GO:0003713	Function	Transcription coactivator activity	TAS	10198638
GO:0005515	Function	Protein binding	IPI	11984006, 17000779, 21293490, 23178117, 25281560, 26496610, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	10235267, 17000779
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016592	Component	Mediator complex	IBA
GO:0016592	Component	Mediator complex	IDA	10198638, 12037571
GO:0016592	Component	Mediator complex	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0042809	Function	Nuclear vitamin D receptor binding	NAS	10235266
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10198638
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12037571
GO:0046966	Function	Nuclear thyroid hormone receptor binding	IDA	10198638
GO:0048568	Process	Embryonic organ development	IEA
GO:0048702	Process	Embryonic neurocranium morphogenesis	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	12218053
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0090245	Process	Axis elongation involved in somitogenesis	IEA
GO:1990403	Process	Embryonic brain development	IEA
GO:1990508	Component	CKM complex	IPI	19047373
GO:1990508	Component	CKM complex	ISS

MIM	HGNC	e!Ensembl
300188	11957	ENSG00000184634

Protein

UniProt ID

Q93074

Protein name

Mediator of RNA polymerase II transcription subunit 12 (Activator-recruited cofactor 240 kDa component) (ARC240) (CAG repeat protein 45) (Mediator complex subunit 12) (OPA-containing protein) (Thyroid hormone receptor-associated protein complex 230 kDa co

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

8TQ2 , 8TQC , 8TQW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09497	Med12	105 → 161	Transcription mediator complex subunit Med12	Domain
PF12145	Med12-LCEWAV	286 → 757	Eukaryotic Mediator 12 subunit domain	Domain
PF12144	Med12-PQL	1819 → 2022	Eukaryotic Mediator 12 catenin-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10198638}.

Sequence

MAAFGILSYEHRPLKRPRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAK
NVSFNPAKISSNFSSIIAEKLRCNTLPDTGRRKPQVNQKDNFWLVTARSQSAINTWFTDL
AGTKPLTQLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAISETKVKKRHV
DPFMEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHDVEVAIRQWDYTEKLA
MFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYF
CTRRLALQLDGVSSHSSHVISAQSTSTLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVF
GLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAK
LREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSL
CNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAER
CGESEAADEKGSIASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLF
CELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPADDPEHKEAEGSSSSKLEDP
GLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPPKEKIEG
TLGVLYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILK
VLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYD
QHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNEL
SVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMN
RSDGSSAERCILAYLYDLYTSCSHLKNKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPE
FMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAE
LTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQC
LLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIR
SSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVTGGTEELPEEEGGGGSGG
RRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRL
MQLICYPHRLLDNEDGENPQRQRIKRILQNLDQWTMRQSSLELQLMIKQTPNNEMNSLLE
NIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQ
GHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLL
TSLYSQVHQIVNNWRDDQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAML
LLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLAKKL
QKELGERQSDSLEKVRQLLPLPKQTRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVS
TKQKISPWDLFEGLKPSAPLSWGWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLE
PLPLPPEDEEPPAPTLLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKTE
DYGMGPGRSGPYGVTVPPDLLHHPNPGSITHLNYRQGSIGLYTQNQPLPAGGPRVDPYRP
VRLPMQKLPTRPTYPGVLPTTMTGVMGLEPSSYKTSVYRQQQPAVPQGQRLRQQLQQSQG
MLGQSSVHQMTPSSSYGLQTSQGYTPYVSHVGLQQHTGPAGTMVPPSYSSQPYQSTHPST
NPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMISTMTPMSAQGVQA
GVRSTAILPEQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQILRQQQQQQQQQQQ
QQQQQQQQQQQQQQQHQQQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQ
QLSNTQPQPSTNIFGRY

Sequence length

2177

Interactions

View interactions

	KEGG		Reactome
	Thyroid hormone signaling pathway		PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Blepharophimosis-Mental Retardation Syndrome	Blepharophimosis - intellectual disability syndrome, MKB type	rs1556334519, rs80338758, rs727503868, rs1085307941, rs387907361, rs387907362, rs1556334969	N/A
FG Syndrome	FG syndrome 1, fg syndrome	rs867655376, rs794727576, rs1556334519, rs2092317530, rs863223706, rs80338758, rs1057519381, rs1556337063, rs879255527, rs80338759, rs1569481124, rs1085307941, rs387907361, rs1556334969, rs1602299778, rs387907362 View all (1 more)	N/A
Mental retardation	intellectual disability	rs80338758	N/A
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection	rs1556337063, rs1569482431	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cholestasis	cholestasis-pigmentary retinopathy-cleft palate syndrome	N/A	N/A	GenCC
Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome, classic type	N/A	N/A	ClinVar
Glioblastoma	glioblastoma	N/A	N/A	ClinVar
Hemangiosarcoma	Angiosarcoma	N/A	N/A	ClinVar
Nephroblastoma	nephroblastoma	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (90)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormal Karyotype	Associate	29666002
Agenesis of Corpus Callosum	Associate	17369503
Alzheimer Disease	Associate	21293490
Angiomyoma	Associate	37889065
Anxiety	Associate	18973276
Ataxia Telangiectasia	Associate	27203213
Ataxia Telangiectasia	Stimulate	35418189
ATR X syndrome	Associate	30729724
Auditory Perceptual Disorders	Associate	18973276
Autistic Disorder	Associate	33244165
Blepharophimosis syndrome Ohdo type	Associate	23395478, 33244166, 34573309, 36271811, 38492468, 39986018
Breast Diseases	Associate	34261476
Breast Neoplasms	Associate	25839987, 25855048, 25865354, 27806318, 28771672, 29440396, 34261476, 38380720, 40565184
Carcinogenesis	Associate	28054945, 29666002, 30647905
Carcinoma Acinar Cell	Associate	27713419
Carcinoma Hepatocellular	Associate	35069777
Carcinoma Renal Cell	Associate	24504440
Cardiomyopathy Dilated	Associate	38129817
Cleft Lip	Associate	35385219
Cognition Disorders	Associate	19938245
Colorectal Neoplasms	Associate	23132392, 28183795, 29440396, 29507187
Congenital Abnormalities	Associate	23091001, 36894399
Conotruncal cardiac defects	Associate	32682435
Corneal Dystrophy Fleck	Associate	36342087
Craniocerebral Trauma	Associate	17369503
Developmental Disabilities	Associate	33244165, 36894399
Dianzani autoimmune lymphoproliferative syndrome	Associate	30467240
Dystonic Disorders	Associate	27187686
Epilepsies Partial	Associate	36894399
Epilepsy	Associate	36894399
Esophageal Squamous Cell Carcinoma	Inhibit	18234960
Facial Dysmorphism with Multiple Malformations	Associate	33244165
Feeding and Eating Disorders	Associate	33244165
Fibroadenoma	Associate	25839987, 25855048, 26832993, 27806318, 28513873, 29315289, 30851086, 33046803, 33376197, 33727697, 36823780, 38055384
Fibrocystic Breast Disease	Associate	27713419
Fibroma	Associate	27806318
Fibrosis	Associate	27967206
Fumaric aciduria	Associate	27187686
Glioblastoma	Associate	22952576
Glioblastoma	Stimulate	35091793
Granulosa Cell Tumor	Associate	32203090
Growth Disorders	Associate	33244165
Hardikar syndrome	Associate	33244166, 35385210, 36894399
Heart Defects Congenital	Associate	32682435
Hereditary Breast and Ovarian Cancer Syndrome	Associate	25855048, 25865354, 26832993, 27806318, 30467240, 30647905, 33046803, 33376197
Hereditary leiomyomatosis and renal cell cancer	Associate	27187686
Hyperkinesis	Associate	18973276
Intellectual Disability	Associate	17369503, 23091001, 25649377, 30729724, 31906484, 33244165, 33244166, 36271811, 36894399
Leiomyoma	Associate	22182697, 22428002, 22768200, 23222489, 23443020, 24390224, 24986214, 25325994, 26787895, 26820714, 27363490, 27967206, 28432313, 28592321, 29333096 View all (27 more)
Leiomyosarcoma	Associate	23132392, 23222489, 24390224, 24986214, 25865354, 26891131, 27363490, 27889101, 28592321
Leukemia Lymphocytic Chronic B Cell	Associate	25595892, 29440396, 33277788
Leukemia Myeloid Acute	Associate	30737482
Leukemia Prolymphocytic T Cell	Associate	28771672
Lujan Fryns syndrome	Associate	17369503, 18691967, 23091001, 30729724, 33244165, 33244166, 34573309, 36271811
Lung Neoplasms	Associate	27050271
Malignant mesenchymal tumor	Associate	32889887
Megalencephaly	Associate	17369503
Mental Disorders	Associate	18973276
Mental Retardation X Linked	Associate	17369503, 18691967, 33244165
Mental Retardation X Linked 1	Associate	34573309
Musculoskeletal Abnormalities	Associate	23091001
Neoplasms	Associate	18234960, 23132392, 23222489, 23443020, 25108465, 25435355, 25593300, 25621995, 26355235, 26820714, 26832993, 27015034, 27187686, 27602765, 27806318 View all (24 more)
Neoplasms	Inhibit	22768200, 27602765, 28183795
Neoplasms Fibroepithelial	Associate	32322022
Neuralgia	Associate	24986214
Oncogenic osteomalacia	Associate	32277576
Opitz Kaveggia syndrome	Associate	17369503, 18691967, 18973276, 19200522, 19938245, 23091001, 30729724, 33244166, 34573309, 36271811
Pelvic Inflammatory Disease	Associate	28432313
Personality Disorders	Associate	18973276
Phyllodes Tumor	Associate	25593300, 25839987, 25865354, 26355235, 26832993, 27806318, 28267263, 29315289, 33727697, 36823780, 39597083
Phyllodes Tumor of the Prostate	Associate	25855048
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	27602765
Prostatic Neoplasms	Associate	22610119, 28067867, 34250416, 35347810, 37461056, 39253786, 40133664
Prostatic Neoplasms Castration Resistant	Associate	28067867
Prostatitis	Associate	22610119
Rhabdomyosarcoma Alveolar	Associate	37315267
Say syndrome	Associate	23395478
Seizures	Associate	36894399
Small Cell Lung Carcinoma	Associate	28055980
Smooth Muscle Tumor	Associate	22768200, 23222489, 24390224, 28592321
Soft Tissue Injuries	Associate	28591699
Soft Tissue Neoplasms	Associate	22768200
Spongiform Encephalopathy with Neuropsychiatric Features	Associate	30729724
Thyroid Neoplasms	Associate	28634282
Triple Negative Breast Neoplasms	Associate	29807833
Uterine Diseases	Associate	25615570, 29440396
Ventricular Outflow Obstruction Right	Associate	35385219
Voice Disorders	Associate	17369503
Weight Loss	Associate	36150519
Young Simpson syndrome	Associate	23395478

MED12 (mediator complex subunit 12)