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	81857
Gene name	Mediator complex subunit 25
Gene symbol	MED25
Synonyms (NCBI Gene)	ACID1ARC92BVSYSCMT2B2P78PTOV2TCBAP0758
Chromosome	19
Chromosome location	19q13.33
Summary	This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in p

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142353864	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs535472885	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs776291104	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1223073957	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555802864	C>T	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052170	hsa-let-7b-5p	CLASH	23622248
MIRT043009	hsa-miR-324-3p	CLASH	23622248
MIRT038966	hsa-miR-21-3p	CLASH	23622248

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	17641689
GO:0001223	Function	Transcription coactivator binding	IPI	17641689
GO:0005515	Function	Protein binding	IPI	17641689, 21378963, 21378965, 24882805, 25281560, 25792360, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	24882805
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0016592	Component	Mediator complex	IBA
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	NAS	11559591
GO:0035563	Process	Positive regulation of chromatin binding	IMP	17641689
GO:0042974	Function	Nuclear retinoic acid receptor binding	IPI	17641689
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17641689
GO:0046965	Function	Nuclear retinoid X receptor binding	IPI	17641689
GO:0048147	Process	Negative regulation of fibroblast proliferation	IMP	17641689
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:2001178	Process	Positive regulation of mediator complex assembly	IMP	17641689

MIM	HGNC	e!Ensembl
610197	28845	ENSG00000104973

Q71SY5

Protein name

Mediator of RNA polymerase II transcription subunit 25 (Activator interaction domain-containing protein 1) (Activator-recruited cofactor 92 kDa component) (ARC92) (Mediator complex subunit 25) (p78)

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

2KY6 , 2L23 , 2L6U , 2XNF , 7EMF , 7LBM , 8GXQ , 8GXS , 8T9D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11265	Med25_VWA	12 → 226	Mediator complex subunit 25 von Willebrand factor type A	Family
PF11235	Med25_SD1	228 → 383	Mediator complex subunit 25 synapsin 1	Domain
PF11232	Med25	396 → 546	Mediator complex subunit 25 PTOV activation and synapsin 2	Domain
PF11244	Med25_NR-box	658 → 747	Mediator complex subunit 25 C-terminal NR box-containing	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Highest levels in brain, heart, kidney, peripheral leukocytes, placenta, skeletal muscle and spleen. {ECO:0000269|PubMed:14657022, ECO:0000269|PubMed:14983011}.

Sequence

MVPGSEGPARAGSVVADVVFVIEGTANLGPYFEGLRKHYLLPAIEYFNGGPPAETDFGGD
YGGTQYSLVVFNTVDCAPESYVQCHAPTSSAYEFVTWLDGIKFMGGGGESCSLIAEGLST
ALQLFDDFKKMREQIGQTHRVCLLICNSPPYLLPAVESTTYSGCTTENLVQQIGERGIHF
SIVSPRKLPALRLLFEKAAPPALLEPLQPPTDVSQDPRHMVLVRGLVLPVGGGSAPGPLQ
SKQPVPLPPAAPSGATLSAAPQQPLPPVPPQYQVPGNLSAAQVAAQNAVEAAKNQKAGLG
PRFSPITPLQQAAPGVGPPFSQAPAPQLPPGPPGAPKPPPASQPSLVSTVAPGSGLAPTA
QPGAPSMAGTVAPGGVSGPSPAQLGAPALGGQQSVSNKLLAWSGVLEWQEKPKPASVDAN
TKLTRSLPCQVYVNHGENLKTEQWPQKLIMQLIPQQLLTTLGPLFRNSRMVQFHFTNKDL
ESLKGLYRIMGNGFAGCVHFPHTAPCEVRVLMLLYSSKKKIFMGLIPYDQSGFVNGIRQV
ITNHKQVQQQKLEQQQRGMGGQQAPPGLGPILEDQARPSQNLLQLRPPQPQPQGTVGASG
ATGQPQPQGTAQPPPGAPQGPPGAASGPPPPGPILRPQNPGANPQLRSLLLNPPPPQTGV
PPPQASLHHLQPPGAPALLPPPHQGLGQPQLGPPLLHPPPAQSWPAQLPPRAPLPGQMLL
SGGPRGPVPQPGLQPSVMEDDILMDLI

Sequence length

747

Interactions

View interactions

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

881

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease type 2	Likely pathogenic; Pathogenic	rs781140315	RCV000689030
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	Likely pathogenic; Pathogenic	rs781140315, rs794729668, rs2514495299	RCV004556753 RCV000185605 RCV003988254
Neurodevelopmental disorder	Likely pathogenic	rs551069830	RCV001374945

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs1530882, rs183713569	RCV005919876 RCV005922544
Autism	Uncertain significance	rs2073953656	RCV004698539
Charcot-Marie-Tooth disease	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs752522, rs57854058, rs114843375, rs145770066, rs77400039, rs199743509, rs147538736, rs185100172, rs143148835, rs2017698, rs193291405, rs371157406, rs142353864, rs74863643, rs145574885 View all (56 more)	RCV001173675 RCV001173681 RCV001173680 RCV000192241 RCV001173677 RCV001174293 RCV001172681 RCV001173682 RCV001174292 RCV001173676 RCV001173683 RCV001173679 RCV001173465 RCV001173684 RCV001172674 RCV001172666 RCV001172682 RCV001173674 RCV001173468 RCV001173466 RCV001172672 RCV001172671 RCV001174287 RCV001172675 RCV001174294 RCV001172677 RCV001173449 RCV001173462 RCV001173454 RCV001173456 RCV001172664 RCV001174290 RCV001174288 RCV001172661 RCV001173446 RCV001173453 RCV001173464 RCV001172673 RCV001173685 RCV001172665 RCV001172663 RCV001172669 RCV001173673 RCV001173460 RCV001172667 RCV001172668 RCV001174289 RCV001173461 RCV001173447 RCV001172670 RCV001173450 RCV001173672 RCV001173458 RCV001174291 RCV001173452 RCV001173467 RCV001172662 RCV001173469 RCV001172678 RCV001174286 RCV001173455 RCV001173459 RCV001173678 RCV001172676 RCV001173448 RCV001173463 RCV001173451 RCV001172680 RCV001172679 RCV001172683 RCV001173457
Charcot-Marie-Tooth disease type 2B2	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs748546983, rs145770066, rs148214958, rs2017698, rs79635160, rs746210338, rs535472885, rs775622130, rs369117035, rs770792425, rs1280659782	RCV005369974 RCV000001387 RCV000765458 RCV000625156 RCV002487457 RCV005355650 RCV001249635 RCV003483737 RCV002507488 RCV001249636 RCV001250994
Cholangiocarcinoma	Benign	rs1530882	RCV005919882
Colorectal cancer	Uncertain significance	rs1568624159	RCV005934879
Gastric cancer	Benign; Likely benign; Uncertain significance	rs1530882, rs183713569, rs377259236	RCV005919878 RCV005922547 RCV005901670
Lung cancer	Benign; Conflicting classifications of pathogenicity	rs1530882, rs199743509	RCV005919883 RCV005889849
Malignant lymphoma, large B-cell, diffuse	Benign	rs1530882	RCV005919877
Malignant tumor of esophagus	Likely benign	rs183713569	RCV005922545
MED25-related disorder	Likely benign; Conflicting classifications of pathogenicity	rs530025381, rs1397405011, rs145770066, rs370554586, rs1185106322, rs142353864, rs2514497682, rs761005224, rs144892223, rs147869920, rs762594410, rs549136898, rs759800230, rs753910880, rs199982073	RCV003951034 RCV003923525 RCV003924791 RCV003898715 RCV003936628 RCV003967768 RCV003949713 RCV003926786 RCV003912807 RCV003937999 RCV003948066 RCV003948118 RCV003955643 RCV003948138 RCV003965705
Neurodevelopmental delay	Conflicting classifications of pathogenicity	rs776291104, rs918394135	RCV002274097 RCV002274129
Ovarian serous cystadenocarcinoma	Benign	rs1530882	RCV005919879
Polyneuropathy	Benign; Likely benign	rs371157406, rs773627830, rs780086993	RCV000850336 RCV000850332 RCV000850294
Sarcoma	Likely benign	rs183713569	RCV005922546
Thymoma	Benign	rs1530882	RCV005919881
Tip-toe gait	Conflicting classifications of pathogenicity; Uncertain significance	rs145770066, rs775019484, rs199761611, rs535472885, rs76613506	RCV002227925 RCV003318728 RCV001822857 RCV003319988 RCV004597974
Uterine carcinosarcoma	Benign; Likely benign	rs1530882, rs183713569	RCV005919880 RCV005922548
Uterine corpus endometrial carcinoma	Likely benign	rs376067132	RCV005924356

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	30039206
Carcinogenesis	Associate	34137598
Carcinoma Hepatocellular	Associate	35069777
Charcot Marie Tooth Disease	Associate	26556829, 30039206
Charcot Marie Tooth disease Type 2B2	Associate	30039206
Neoplasm Metastasis	Associate	34137598
Peripheral Nervous System Diseases	Associate	26556829
Respiratory Syncytial Virus Infections	Associate	35907573
Spastic Paraplegia Hereditary	Associate	26556829
Triple Negative Breast Neoplasms	Associate	34137598, 38527936

MED25 (mediator complex subunit 25)