MED24 (mediator complex subunit 24)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9862
Gene name Mediator complex subunit 24
Gene symbol MED24
Synonyms (NCBI Gene)
ARC100CRSP100CRSP4DRIP100MED5THRAP4TRAP100
Chromosome 17
Chromosome location 17q21.1
Summary This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activ
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs760297650 C>T Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1568162263 G>C Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
433
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (433)
miRTarBase ID miRNA Experiments Reference
MIRT018060 hsa-miR-335-5p Microarray 18185580
MIRT027655 hsa-miR-98-5p Microarray 19088304
MIRT030488 hsa-miR-24-3p Microarray 19748357
MIRT051295 hsa-miR-16-5p CLASH 23622248
MIRT048129 hsa-miR-197-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IBA
GO:0003712 Function Transcription coregulator activity IDA 10198638
GO:0003713 Function Transcription coactivator activity IDA 12218053
GO:0003713 Function Transcription coactivator activity NAS 10235266
GO:0005515 Function Protein binding IPI 24882805, 25792360, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607000 22963 ENSG00000008838
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75448
Protein name Mediator of RNA polymerase II transcription subunit 24 (Activator-recruited cofactor 100 kDa component) (ARC100) (Cofactor required for Sp1 transcriptional activation subunit 4) (CRSP complex subunit 4) (Mediator complex subunit 24) (Thyroid hormone recep
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 , 8GXQ , 8GXS , 8T9D , 8TQW , 8TRH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11277 Med24_N 1 → 987 Mediator complex subunit 24 N-terminal Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Abundant in skeletal muscle, heart and placenta. {ECO:0000269|PubMed:9653119}.
Sequence 
MKVVNLKQAILQAWKERWSDYQWAINMKKFFPKGATWDILNLADALLEQAMIGPSPNPLI
LSYLKYAISSQMVSYSSVLTAISKFDDFSRDLCVQALLDIMDMFCDRLSCHGKAEECIGL
CRALLSALHWLLRCTAASAERLREGLEAGTPAAGEKQLAMCLQRLEKTLSSTKNRALLHI
AKLEEASSWTAIEHSLLKLGEILANLSNPQLRSQAEQCGTLIRSIPTMLSVHAEQMHKTG
FPTVHAVILLEGTMNLTGETQSLVEQLTMVKRMQHIPTPLFVLEIWKACFVGLIESPEGT
EELKWTAFTFLKIPQVLVKLKKYSHGDKDFTEDVNCAFEFLLKLTPLLDKADQRCNCDCT
NFLLQECGKQGLLSEASVNNLMAKRKADREHAPQQKSGENANIQPNIQLILRAEPTVTNI
LKTMDADHSKSPEGLLGVLGHMLSGKSLDLLLAAAAATGKLKSFARKFINLNEFTTYGSE
ESTKPASVRALLFDISFLMLCHVAQTYGSEVILSESRTGAEVPFFETWMQTCMPEEGKIL
NPDHPCFRPDSTKVESLVALLNNSSEMKLVQMKWHEACLSISAAILEILNAWENGVLAFE
SIQKITDNIKGKVCSLAVCAVAWLVAHVRMLGLDEREKSLQMIRQLAGPLFSENTLQFYN
ERVVIMNSILERMCADVLQQTATQIKFPSTGVDTMPYWNLLPPKRPIKEVLTDIFAKVLE
KGWVDSRSIHIFDTLLHMGGVYWFCNNLIKELLKETRKEHTLRAVELLYSIFCLDMQQVT
LVLLGHILPGLLTDSSKWHSLMDPPGTALAKLAVWCALSSYSSHKGQASTRQKKRHREDI
EDYISLFPLDDVQPSKLMRLLSSNEDDANILSSPTDRSMSSSLSASQLHTVNMRDPLNRV
LANLFLLISSILGSRTAGPHTQFVQWFMEECVDCLEQGGRGSVLQFMPFTTVSELVKVSA
MSSPKVVLAITDLSLPLGRQVAAKAIAAL
Sequence length 989
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Thyroid hormone signaling pathway   PPARA activates gene expression
Generic Transcription Pathway
Transcriptional regulation of white adipocyte differentiation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature Likely pathogenic rs760297650, rs1568162263 RCV000736133
RCV000736132
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (13)
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.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma GWASDB_DG 20860503
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 22037903 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma BEFREE 23452035, 27163155
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 40562893 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31811111, 35069777 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 22037903 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 35044082 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung Neoplasms BEFREE 31248101
★★★★★
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma GWASCAT_DG 23502783
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Multiple Myeloma Multiple myeloma GWASDB_DG 23502783
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations