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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9442
Gene name	Mediator complex subunit 27
Gene symbol	MED27
Synonyms (NCBI Gene)	CRAP34CRSP34CRSP8MED3NEDSCACTRAP37
Chromosome	9
Chromosome location	9q34.13
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

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miRTarBase ID	miRNA	Experiments
MIRT2040166	hsa-miR-1237	CLIP-seq
MIRT2040167	hsa-miR-1248	CLIP-seq
MIRT2040168	hsa-miR-151-5p	CLIP-seq
MIRT2040169	hsa-miR-151b	CLIP-seq
MIRT2040170	hsa-miR-4643	CLIP-seq
MIRT2040171	hsa-miR-4717-3p	CLIP-seq
MIRT2040172	hsa-miR-4777-5p	CLIP-seq
MIRT2040173	hsa-miR-4778-3p	CLIP-seq
MIRT2040174	hsa-miR-4802-3p	CLIP-seq
MIRT2040175	hsa-miR-516a-3p	CLIP-seq
MIRT2040176	hsa-miR-518d-5p	CLIP-seq
MIRT2040177	hsa-miR-519b-5p	CLIP-seq
MIRT2040178	hsa-miR-519c-5p	CLIP-seq
MIRT2040179	hsa-miR-520c-5p	CLIP-seq
MIRT2040180	hsa-miR-526a	CLIP-seq
MIRT2040181	hsa-miR-652	CLIP-seq
MIRT2040168	hsa-miR-151-5p	CLIP-seq
MIRT2040169	hsa-miR-151b	CLIP-seq
MIRT2040170	hsa-miR-4643	CLIP-seq
MIRT2040171	hsa-miR-4717-3p	CLIP-seq
MIRT2040174	hsa-miR-4802-3p	CLIP-seq
MIRT2040168	hsa-miR-151-5p	CLIP-seq
MIRT2040169	hsa-miR-151b	CLIP-seq
MIRT2040170	hsa-miR-4643	CLIP-seq
MIRT2040171	hsa-miR-4717-3p	CLIP-seq
MIRT2569074	hsa-miR-1226	CLIP-seq
MIRT2040166	hsa-miR-1237	CLIP-seq
MIRT2040167	hsa-miR-1248	CLIP-seq
MIRT2040168	hsa-miR-151-5p	CLIP-seq
MIRT2040169	hsa-miR-151b	CLIP-seq
MIRT2569075	hsa-miR-1910	CLIP-seq
MIRT2569076	hsa-miR-2114	CLIP-seq
MIRT2569077	hsa-miR-3152-5p	CLIP-seq
MIRT2569078	hsa-miR-3157-5p	CLIP-seq
MIRT2569079	hsa-miR-335	CLIP-seq
MIRT2569080	hsa-miR-4294	CLIP-seq
MIRT2569081	hsa-miR-4297	CLIP-seq
MIRT2569082	hsa-miR-4419a	CLIP-seq
MIRT2569083	hsa-miR-4510	CLIP-seq
MIRT2569084	hsa-miR-4540	CLIP-seq
MIRT2569085	hsa-miR-455-3p	CLIP-seq
MIRT2040170	hsa-miR-4643	CLIP-seq
MIRT2569086	hsa-miR-4691-3p	CLIP-seq
MIRT2040171	hsa-miR-4717-3p	CLIP-seq
MIRT2569087	hsa-miR-4727-3p	CLIP-seq
MIRT2569088	hsa-miR-4774-3p	CLIP-seq
MIRT2040172	hsa-miR-4777-5p	CLIP-seq
MIRT2040173	hsa-miR-4778-3p	CLIP-seq
MIRT2569089	hsa-miR-4794	CLIP-seq
MIRT2040174	hsa-miR-4802-3p	CLIP-seq
MIRT2040175	hsa-miR-516a-3p	CLIP-seq
MIRT2040176	hsa-miR-518d-5p	CLIP-seq
MIRT2040177	hsa-miR-519b-5p	CLIP-seq
MIRT2040178	hsa-miR-519c-5p	CLIP-seq
MIRT2040179	hsa-miR-520c-5p	CLIP-seq
MIRT2040180	hsa-miR-526a	CLIP-seq
MIRT2569090	hsa-miR-634	CLIP-seq
MIRT2569091	hsa-miR-767-3p	CLIP-seq
MIRT2569074	hsa-miR-1226	CLIP-seq
MIRT2040166	hsa-miR-1237	CLIP-seq
MIRT2040167	hsa-miR-1248	CLIP-seq
MIRT2040168	hsa-miR-151-5p	CLIP-seq
MIRT2040169	hsa-miR-151b	CLIP-seq
MIRT2569075	hsa-miR-1910	CLIP-seq
MIRT2569076	hsa-miR-2114	CLIP-seq
MIRT2569077	hsa-miR-3152-5p	CLIP-seq
MIRT2569078	hsa-miR-3157-5p	CLIP-seq
MIRT2569079	hsa-miR-335	CLIP-seq
MIRT2569080	hsa-miR-4294	CLIP-seq
MIRT2569081	hsa-miR-4297	CLIP-seq
MIRT2569082	hsa-miR-4419a	CLIP-seq
MIRT2569083	hsa-miR-4510	CLIP-seq
MIRT2569084	hsa-miR-4540	CLIP-seq
MIRT2569085	hsa-miR-455-3p	CLIP-seq
MIRT2040170	hsa-miR-4643	CLIP-seq
MIRT2569086	hsa-miR-4691-3p	CLIP-seq
MIRT2040171	hsa-miR-4717-3p	CLIP-seq
MIRT2569087	hsa-miR-4727-3p	CLIP-seq
MIRT2569088	hsa-miR-4774-3p	CLIP-seq
MIRT2040172	hsa-miR-4777-5p	CLIP-seq
MIRT2040173	hsa-miR-4778-3p	CLIP-seq
MIRT2569089	hsa-miR-4794	CLIP-seq
MIRT2040174	hsa-miR-4802-3p	CLIP-seq
MIRT2040175	hsa-miR-516a-3p	CLIP-seq
MIRT2040176	hsa-miR-518d-5p	CLIP-seq
MIRT2040177	hsa-miR-519b-5p	CLIP-seq
MIRT2040178	hsa-miR-519c-5p	CLIP-seq
MIRT2040179	hsa-miR-520c-5p	CLIP-seq
MIRT2040180	hsa-miR-526a	CLIP-seq
MIRT2569090	hsa-miR-634	CLIP-seq
MIRT2569091	hsa-miR-767-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	9989412, 10882111
GO:0003713	Function	Transcription coactivator activity	TAS	9989412
GO:0005515	Function	Protein binding	IPI	12584197, 24882805, 24981860, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	9989412, 24882805
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	9989412
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9989412
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:0016567	Process	Protein ubiquitination	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:0035019	Process	Somatic stem cell population maintenance	IEA
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:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070847	Component	Core mediator complex	IPI	24882805

MIM	HGNC	e!Ensembl
605044	2377	ENSG00000160563

Q6P2C8

Protein name

Mediator of RNA polymerase II transcription subunit 27 (Cofactor required for Sp1 transcriptional activation subunit 8) (CRSP complex subunit 8) (Mediator complex subunit 27) (P37 TRAP/SMCC/PC2 subunit) (Transcriptional coactivator CRSP34)

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

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11571	Med27	228 → 310	Mediator complex subunit 27	Family

Sequence

MADVINVSVNLEAFSQAISAIQALRSSVSRVFDCLKDGMRNKETLEGREKAFIAHFQDNL
HSVNRDLNELERLSNLVGKPSENHPLHNSGLLSLDPVQDKTPLYSQLLQAYKWSNKLQYH
AGLASGLLNQQSLKRSANQMGVSAKRRPKAQPTTLVLPPQYVDDVISRIDRMFPEMSIHL
SRPNGTSAMLLVTLGKVLKVIVVMRSLFIDRTIVKGYNENVYTEDGKLDIWSKSNYQVFQ
KVTDHATTALLHYQLPQMPDVVVRSFMTWLRSYIKLFQAPCQRCGKFLQDGLPPTWRDFR
TLEAFHDTCRQ

Sequence length

311

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	Pathogenic	rs1838678412, rs2131076903, rs1024055178	RCV001374868 RCV001374870 RCV001374873

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Intellectual disability	Uncertain significance	rs1218659650	RCV001007812
See cases	Uncertain significance	rs1830742874	RCV003128511
Severe myoclonic epilepsy in infancy	Conflicting classifications of pathogenicity	rs774276967	RCV005860222

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Basal Ganglia Diseases	Associate	37517035
Breast Neoplasms	Associate	32633372, 36786527
Carcinoma Hepatocellular	Associate	35069777
Cataract	Associate	33443317, 37517035
Cerebellar Hypoplasia	Associate	33443317, 37517035
Developmental Disabilities	Associate	33443317, 37517035
Dystonia	Associate	33443317, 37517035
Epilepsy	Associate	37517035
Epileptic Encephalopathy Early Infantile 3	Associate	37517035
Gait Ataxia	Associate	37517035
Intellectual Disability	Associate	33443317, 37517035
Melanoma	Associate	36786527
Microcephaly	Associate	37517035
Movement Disorders	Associate	37517035
Muscle Hypotonia	Associate	37517035
Muscle Spasticity	Associate	33443317, 37517035
Neoplasm Metastasis	Inhibit	36786527
Neoplasms	Associate	32633372, 36786527
Seizures	Associate	33443317
Spinocerebellar Degenerations	Associate	37517035
Thyroid Neoplasms	Stimulate	36786527

MED27 (mediator complex subunit 27)