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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myoclonic epilepsy in infancy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	29730647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22153617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	29730647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	29730647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	37517035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32633372, 36786527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35069777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	33443317, 37517035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	33443317, 37517035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22153617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33443317, 37517035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33443317, 37517035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37517035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	37517035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33443317, 37517035	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Medulloblastoma	Medulloblastoma	BEFREE	22153617		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26797421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36786527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	37517035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	37517035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26797421, 29730647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29693135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33443317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36786527	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MED27 (mediator complex subunit 27)