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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9439
Gene name	Mediator complex subunit 23
Gene symbol	MED23
Synonyms (NCBI Gene)	ARC130CRSP130CRSP133CRSP3DRIP130MRT18SUR-2SUR2
Chromosome	6
Chromosome location	6q23.2
Summary	The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. T

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs370667926	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs527236035	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs527236036	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs753015353	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs760262127	AAGA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant, downstream transcript variant
rs766478634	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs769471341	G>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs786205583	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs878853110	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1064796306	C>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1293450628	G>A,C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1554257255	A>C	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant

Show/Hide all (60)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029125	hsa-miR-26b-5p	Microarray	19088304
MIRT044390	hsa-miR-320a	CLASH	23622248
MIRT710119	hsa-miR-664a-3p	HITS-CLIP	19536157
MIRT710118	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT710117	hsa-miR-922	HITS-CLIP	19536157
MIRT710116	hsa-miR-214-3p	HITS-CLIP	19536157
MIRT710115	hsa-miR-3619-5p	HITS-CLIP	19536157
MIRT710114	hsa-miR-761	HITS-CLIP	19536157
MIRT710113	hsa-miR-4771	HITS-CLIP	19536157
MIRT710112	hsa-miR-4291	HITS-CLIP	19536157
MIRT710111	hsa-miR-1298-5p	HITS-CLIP	19536157
MIRT710119	hsa-miR-664a-3p	HITS-CLIP	19536157
MIRT710118	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT710117	hsa-miR-922	HITS-CLIP	19536157
MIRT710116	hsa-miR-214-3p	HITS-CLIP	19536157
MIRT710115	hsa-miR-3619-5p	HITS-CLIP	19536157
MIRT710114	hsa-miR-761	HITS-CLIP	19536157
MIRT710113	hsa-miR-4771	HITS-CLIP	19536157
MIRT710112	hsa-miR-4291	HITS-CLIP	19536157
MIRT710111	hsa-miR-1298-5p	HITS-CLIP	19536157
MIRT1141412	hsa-miR-1183	CLIP-seq
MIRT1141413	hsa-miR-1264	CLIP-seq
MIRT1141414	hsa-miR-1273f	CLIP-seq
MIRT1141415	hsa-miR-1297	CLIP-seq
MIRT1141416	hsa-miR-1305	CLIP-seq
MIRT1141417	hsa-miR-1321	CLIP-seq
MIRT1141418	hsa-miR-26a	CLIP-seq
MIRT1141419	hsa-miR-26b	CLIP-seq
MIRT1141420	hsa-miR-3162-5p	CLIP-seq
MIRT1141421	hsa-miR-3163	CLIP-seq
MIRT1141422	hsa-miR-3177-5p	CLIP-seq
MIRT1141423	hsa-miR-361-3p	CLIP-seq
MIRT1141424	hsa-miR-3662	CLIP-seq
MIRT1141425	hsa-miR-3679-3p	CLIP-seq
MIRT1141426	hsa-miR-371-5p	CLIP-seq
MIRT1141427	hsa-miR-371b-5p	CLIP-seq
MIRT1141428	hsa-miR-4465	CLIP-seq
MIRT1141429	hsa-miR-4668-3p	CLIP-seq
MIRT1141430	hsa-miR-4698	CLIP-seq
MIRT1141431	hsa-miR-4739	CLIP-seq
MIRT1141432	hsa-miR-4742-3p	CLIP-seq
MIRT1141433	hsa-miR-4756-5p	CLIP-seq
MIRT1141434	hsa-miR-498	CLIP-seq
MIRT1141435	hsa-miR-1202	CLIP-seq
MIRT1141436	hsa-miR-1257	CLIP-seq
MIRT1141437	hsa-miR-3194-5p	CLIP-seq
MIRT1141438	hsa-miR-3972	CLIP-seq
MIRT1141439	hsa-miR-4643	CLIP-seq
MIRT1141415	hsa-miR-1297	CLIP-seq
MIRT1141418	hsa-miR-26a	CLIP-seq
MIRT1141419	hsa-miR-26b	CLIP-seq
MIRT1141428	hsa-miR-4465	CLIP-seq
MIRT2040107	hsa-miR-548ag	CLIP-seq
MIRT2040108	hsa-miR-548ai	CLIP-seq
MIRT2040109	hsa-miR-548m	CLIP-seq
MIRT2040110	hsa-miR-548p	CLIP-seq
MIRT2040111	hsa-miR-579	CLIP-seq
MIRT2269937	hsa-miR-1285	CLIP-seq
MIRT2269938	hsa-miR-3187-5p	CLIP-seq
MIRT2269939	hsa-miR-612	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	TAS	9989412
GO:0005515	Function	Protein binding	IPI	12421765, 17438371, 20111005, 24882805, 25281560, 25792360, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	24882805
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IDA	9989412
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	9989412
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9989412
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	TAS	9989412
GO:0010628	Process	Positive regulation of gene expression	IBA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016592	Component	Mediator complex	IBA
GO:0016592	Component	Mediator complex	IEA
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	NAS	11559591
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	NAS	11559591
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	NAS	11559591
GO:0070847	Component	Core mediator complex	IPI	24882805
GO:2000409	Process	Positive regulation of T cell extravasation	IEA

MIM	HGNC	e!Ensembl
605042	2372	ENSG00000112282

Q9ULK4

Protein name

Mediator of RNA polymerase II transcription subunit 23 (Activator-recruited cofactor 130 kDa component) (ARC130) (Cofactor required for Sp1 transcriptional activation subunit 3) (CRSP complex subunit 3) (Mediator complex subunit 23) (Protein sur-2 homolog

Protein function

Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent

PDB

6H02 , 7EMF , 7ENA , 7ENC , 7ENJ , 7LBM , 8GXQ , 8GXS , 8T9D , 8TQW , 8TRH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11573	Med23	1 → 1307	Mediator complex subunit 23	Family

Sequence

METQLQSIFEEVVKTEVIEEAFPGMFMDTPEDEKTKLISCLGAFRQFWGGLSQESHEQCI
QWIVKFIHGQHSPKRISFLYDCLAMAVETGLLPPRLVCESLINSDTLEWERTQLWALTFK
LVRKIIGGVDYKGVRDLLKVILEKILTIPNTVSSAVVQQLLAAREVIAYILERNACLLPA
YFAVTEIRKLYPEGKLPHWLLGNLVSDFVDTFRPTARINSICGRCSLLPVVNNSGAICNS
WKLDPATLRFPLKGLLPYDKDLFEPQTALLRYVLEQPYSRDMVCNMLGLNKQHKQRCPVL
EDQLVDLVVYAMERSETEEKFDDGGTSQLLWQHLSSQLIFFVLFQFASFPHMVLSLHQKL
AGRGLIKGRDHLMWVLLQFISGSIQKNALADFLPVMKLFDLLYPEKEYIPVPDINKPQST
HAFAMTCIWIHLNRKAQNDNSKLQIPIPHSLRLHHEFLQQSLRNKSLQMNDYKIALLCNA
YSTNSECFTLPMGALVETIYGNGIMRIPLPGTNCMASGSITPLPMNLLDSLTVHAKMSLI
HSIATRVIKLAHAKSSVALAPALVETYSRLLVYMEIESLGIKGFISQLLPTVFKSHAWGI
LHTLLEMFSYRMHHIQPHYRVQLLSHLHTLAAVAQTNQNQLHLCVESTALRLITALGSSE
VQPQFTRFLSDPKTVLSAESEELNRALILTLARATHVTDFFTGSDSIQGTWCKDILQTIM
SFTPHNWASHTLSCFPGPLQAFFKQNNVPQESRFNLKKNVEEEYRKWKSMSNENDIITHF
SMQGSPPLFLCLLWKMLLETDHINQIGYRVLERIGARALVAHVRTFADFLVYEFSTSAGG
QQLNKCIEILNDMVWKYNIVTLDRLILCLAMRSHEGNEAQVCYFIIQLLLLKPNDFRNRV
SDFVKENSPEHWLQNDWHTKHMNYHKKYPEKLYFEGLAEQVDPPVQIQSPYLPIYFGNVC
LRFLPVFDIVIHRFLELLPVSKSLETLLDHLGGLYKFHDRPVTYLYNTLHYYEMHLRDRA
FLKRKLVHAIIGSLKDNRPQGWCLSDTYLKCAMNAREENPWVPDDTYYCRLIGRLVDTMA
GKSPGPFPNCDWRFNEFPNPAAHALHVTCVELMALAVSGKEVGNALLNVVLKSQPLVPRE
NITAWMNAIGLIITALPEPYWIVLHDRIVSVISSPSLTSETEWVGYPFRLFDFTACHQSY
SEMSCSYTLALAHAVWHHSSIGQLSLIPKFLTEVLLPIVKTEFQLLYVYHLVGPFLQRFQ
QERTRCMIEIGVAFYDMLLNVDQCSTHLNYMDPICDFLYHMKYMFTGDSVKEQVEKIICN
LKPALKLRLRFITHISKMEPAAVPPQAMNSGSPAPQSNQVPVSLPVTQ

Sequence length

1368

Interactions

View interactions

	Reactome
			PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs1776174152	RCV001257654
Intellectual disability, autosomal recessive 18	Likely pathogenic; Pathogenic	rs1775982467, rs771485728, rs2114757071, rs569927513, rs745997916, rs527236035, rs786205583, rs370667926, rs1293450628, rs760262127, rs769471341	RCV001330696 RCV001334892 RCV001789717 RCV001789718 RCV001789720 RCV000132726 RCV003987416 RCV000023395 RCV000504438 RCV000677705 RCV001290680
MED23-related disorder	Likely pathogenic; Pathogenic	rs769471341	RCV004754557

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	rs750247163, rs17060426	RCV005927097 RCV005912063
Cervical cancer	Benign	rs17060426	RCV005912065
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign	rs138742804, rs17060426	RCV005899806 RCV005912066
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs138742804	RCV005899804
Fraser syndrome 3	Uncertain significance	rs1774628358	RCV001251004
Gastric cancer	-	rs2482570711	RCV005930256
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs138742804	RCV005899805
Lung cancer	-	rs2114591980	RCV005930242
Malignant tumor of esophagus	Benign	rs17060426	RCV005912064
Melanoma	Benign	rs17060426	RCV005912071
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs766478634	RCV001779096
Ovarian serous cystadenocarcinoma	-; Conflicting classifications of pathogenicity	rs2482538634, rs138742804	RCV005931692 RCV005899808
Sarcoma	Conflicting classifications of pathogenicity; Benign	rs138742804, rs17060426	RCV005899807 RCV005912067
Thymoma	Conflicting classifications of pathogenicity; Benign	rs138742804, rs17060426	RCV005899809 RCV005912069
Thyroid cancer, nonmedullary, 1	Benign	rs17060426	RCV005912070
Uterine carcinosarcoma	Benign	rs17060426	RCV005912068
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	rs138742804, rs17060426	RCV005899810 RCV005912072

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	32046242
Atrial Fibrillation	Associate	40113094
Brain Diseases	Associate	25845469
Breast Neoplasms	Associate	26899600, 31759986
Carcinoma Hepatocellular	Associate	35069777
Ectrodactyly cardiopathy dysmorphism	Associate	40113094
Heart Defects Congenital	Associate	25845469
Intellectual Disability	Associate	25845469
Mitral Valve Stenosis	Associate	40113094
Muscle Spasticity	Associate	25845469
Neoplasms	Associate	12242338, 26899600, 37999979
Neoplasms	Inhibit	31759986
Triple Negative Breast Neoplasms	Associate	35672824

MED23 (mediator complex subunit 23)