Gene Gene information from NCBI Gene database.
Entrez ID 23389
Gene name Mediator complex subunit 13L
Gene symbol MED13L
Synonyms (NCBI Gene)
MRFACDPROSIT240THRAP2TRAP240L
Chromosome 12
Chromosome location 12q24.21
Summary The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the he
SNPs SNP information provided by dbSNP.
97
SNP ID Visualize variation Clinical significance Consequence
rs121918333 T>C Pathogenic Coding sequence variant, missense variant
rs147976828 G>-,GG Pathogenic Frameshift variant, coding sequence variant
rs370245982 G>A Conflicting-interpretations-of-pathogenicity Intron variant
rs869025286 CT>- Pathogenic Coding sequence variant, frameshift variant
rs869025287 GCCAATAT>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
819
miRTarBase ID miRNA Experiments Reference
MIRT016185 hsa-miR-590-3p Sequencing 20371350
MIRT027821 hsa-miR-98-5p Microarray 19088304
MIRT028166 hsa-miR-93-5p Sequencing 20371350
MIRT052519 hsa-let-7a-5p CLASH 23622248
MIRT051444 hsa-let-7e-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IEA
GO:0003713 Function Transcription coactivator activity IDA 22249253
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0006357 Process Regulation of transcription by RNA polymerase II IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608771 22962 ENSG00000123066
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q71F56
Protein name Mediator of RNA polymerase II transcription subunit 13-like (Mediator complex subunit 13-like) (Thyroid hormone receptor-associated protein 2) (Thyroid hormone receptor-associated protein complex 240 kDa component-like)
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11597 Med13_N 11 261 Mediator complex subunit 13 N-terminal Domain
PF18296 MID_MedPIWI 1416 1760 MID domain of medPIWI Domain
PF06333 Med13_C 1796 2199 Mediator complex subunit 13 C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain. {ECO:0000269|PubMed:14638541, ECO:0000269|PubMed:15145061}.
Sequence
MTAAANWVANGASLEDCHSNLFSLAELTGIKWRRYNFGGHGDCGPIISAPAQDDPILLSF
IRCLQANLLCVWRRDVKPDCKELWIFWWGDEPNLVGVIHHELQVVEEGLWENGLSYECRT
LLFKAIHNLLERCLMDKNFVRIGKWFVRPYEKDEKPVNKSEHLSCAFTFFLHGESNVCTS
VEIAQHQPIYLINEEHIHMAQSSPAPFQVLVSPYGLNGTLTGQAYKMSDPATRKLIEEWQ
YFYPMVLKKKEESKEEDELGY
DDDFPVAVEVIVGGVRMVYPSAFVLISQNDIPVPQSVAS
AGGHIAVGQQGLGSVKDPSNCGMPLTPPTSPEQAILGESGGMQSAASHLVSQDGGMITMH
SPKRSGKIPPKLHNHMVHRVWKECILNRTQSKRSQMSTPTLEEEPASNPATWDFVDPTQR
VSCSCSRHKLLKRCAVGPNRPPTVSQPGFSAGPSSSSSLPPPASSKHKTAERQEKGDKLQ
KRPLIPFHHRPSVAEELCMEQDTPGQKLGLAGIDSSLEVSSSRKYDKQMAVPSRNTSKQM
NLNPMDSPHSPISPLPPTLSPQPRGQETESLDPPSVPVNPALYGNGLELQQLSTLDDRTV
LVGQRLPLMAEVSETALYCGIRPSNPESSEKWWHSYRLPPSDDAEFRPPELQGERCDAKM
EVNSESTALQRLLAQPNKRFKIWQDKQPQLQPLHFLDPLPLSQQPGDSLGEVNDPYTFED
GDIKYIFTANKKCKQGTEKDSLKKNKSEDGFGTKDVTTPGHSTPVPDGKNAMSIFSSATK
TDVRQDNAAGRAGSSSLTQVTDLAPSLHDLDNIFDNSDDDELGAVSPALRSSKMPAVGTE
DRPLGKDGRAAVPYPPTVADLQRMFPTPPSLEQHPAFSPVMNYKDGISSETVTALGMMES
PMVSMVSTQLTEFKMEVEDGLGSPKPEEIKDFSYVHKVPSFQPFVGSSMFAPLKMLPSHC
LLPLKIPDACLFRPSWAIPPKIEQLPMPPAATFIRDGYNNVPSVGSLADPDYLNTPQMNT
PVTLNSAAPASNSGAGVLPSPATPRFSVPTPRTPRTPRTPRGGGTASGQGSVKYDSTDQG
SPASTPSTTRPLNSVEPATMQPIPEAHSLYVTLILSDSVMNIFKDRNFDSCCICACNMNI
KGADVGLYIPDSSNEDQYRCTCGFSAIMNRKLGYNSGLFLEDELDIFGKNSDIGQAAERR
LMMCQSTFLPQVEGTKKPQEPPISLLLLLQNQHTQPFASLNFLDYISSNNRQTLPCVSWS
YDRVQADNNDYWTECFNALEQGRQYVDNPTGGKVDEALVRSATVHSWPHSNVLDISMLSS
QDVVRMLLSLQPFLQDAIQKKRTGRTWENIQHVQGPLTWQQFHKMAGRGTYGSEESPEPL
PIPTLLVGYDKDFLTISPFSLPFWERLLLDPYGGHRDVAYIVVCPENEALLEGAKTFFRD
LSAVYEMCRLGQHKPICKVLRDGIMRVGKTVAQKLTDELVSEWFNQPWSGEENDNHSRLK
LYAQVCRHHLAPYLATLQLDSSLLIPPKYQTPPAAAQGQATPGNAGPLAPNGSAAPPAGS
AFNPTSNSSSTNPAASSSASGSSVPPVSSSASAPGISQISTTSSSGFSGSVGGQNPSTGG
ISADRTQGNIGCGGDTDPGQSSSQPSQDGQESVTERERIGIPTEPDSADSHAHPPAVVIY
MVDPFTYAAEEDSTSGNFWLLSLMRCYTEMLDNLPEHMRNSFILQIVPCQYMLQTMKDEQ
VFYIQYLKSMAFSVYCQCRR
PLPTQIHIKSLTGFGPAASIEMTLKNPERPSPIQLYSPPF
ILAPIKDKQTELGETFGEASQKYNVLFVGYCLSHDQRWLLASCTDLHGELLETCVVNIAL
PNRSRRSKVSARKIGLQKLWEWCIGIVQMTSLPWRVVIGRLGRLGHGELKDWSILLGECS
LQTISKKLKDVCRMCGISAADSPSILSACLVAMEPQGSFVVMPDAVTMGSVFGRSTALNM
QSSQLNTPQDASCTHILVFPTSSTIQVAPANYPNEDGFSPNNDDMFVDLPFPDDMDNDIG
ILMTGNLHSSPNSSPVPSPGSPSGIGVGSHFQHSRSQGERLLSREAPEELKQQPLALGYF
VSTAKAENLPQWFWSSCPQAQNQCPLFLKASLHHHISVAQTDELLPARNSQRVPHPLDSK
TTSDVLRFVLEQYNALSWLTCNPATQDRTSCLPVHFVVL
TQLYNAIMNIL
Sequence length 2210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thyroid hormone signaling pathway   PPARA activates gene expression
Transcriptional regulation of white adipocyte differentiation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
52
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Pathogenic rs1592919048 RCV001291369
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome Pathogenic; Likely pathogenic rs1877403231, rs1877686983, rs2137373056, rs2137446876, rs2137307992, rs2137274539, rs2137241977, rs2137216530, rs2137373566, rs2137264830, rs2137287115, rs2137404791, rs2137278830, rs2137307119, rs2137290161
View all (97 more)
RCV001336283
RCV001336282
RCV001788493
RCV001788492
RCV005253849
View all (107 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chromatinopathy Pathogenic rs1877531485 RCV001261221
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development Pathogenic rs1555247805 RCV000626928
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 28645799, 30905399 Associate
★☆☆☆☆
Found in Text Mining only
Apraxias Apraxia Pubtator 25758992 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 25712080, 28645799 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 25167861, 28645799 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 28626070 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only