MED13L - mediator complex subunit 13L Gene

Also Known as MRFACD; THRAP2; TRAP240L; PROSIT240

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23389

About MED13L

Cytogenetic location: 12q24.21 Genomic coordinates (GRCh38): 12:115,958,576-116,277,693 (from NCBI)

This gene has 32 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 23.0), ovary (RPKM 14.7) and 25 other tissues.

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 heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]

MED13L Products (1)

mRNA	Protein	Name
NM_015335.5	NP_056150.1	mediator of RNA polymerase II transcription subunit 13-like

MED13L Protein Structure

Med13_N

Med13_C

0
400
800
1200
1600
2000
2210 a.a.

Protein Preferred Names	Protein Names
mediator of RNA polymerase II transcription subunit 13-like	mediator complex subunit 13 like

Related Diseases

Diseases	Alias
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Asadollahi-Rauch Syndrome MRFACD Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects Mental Retardation, Distinctive Facial Features With/Without Cardiac Defects
Med13l Haploinsufficiency Syndrome	Cardiac Anomalies-Developmental Delay-Facial Dysmorphism Syndrome Intellectual Disability And Distinctive Facial Features With Or Without Cardiac Defects Med13l Syndrome Developmental Delay-Facial Dysmorphism Syndrome Due To Med13l Deficiency Cardiac Anomalies - Developmental Delay - Facial Dysmorphism Syndrome Asadollahi-Rauch Syndrome Asras Med13l-Related Intellectual Disability Mrfacd Med13l-Related Intellectual Disability Syndrome
Transposition Of The Great Arteries, Dextro-Looped	Transposition Of The Great Arteries DTGA1 Dextro-Looped Transposition Of The Great Arteries DTGA Congenitally Uncorrected Transposition Of The Great Arteries Congenitally Uncorrected Transposition Of The Great Vessels D-Tga Isolated Ventriculoarterial Discordance Ventriculoarterial Discordance With Atrioventricular Concordance Dextro-Transposition Of The Great Arteries Transposition Of The Great Vessels Great Vessels Transposition Transposition Of The Great Arteries, Dextro-Looped 1 Arteries, Great, Transposition, Dextro-Looped Ventriculoarterial Discordance, Isolated D-Transposition Of The Great Arteries Complete Transposition Tga Tgv Transposition Of Great Vessels Transposition Of The Great Arteries Dextro-Looped 1 Dextro-Looped Transposition Of The Great Arteries 1 Discordant Ventriculoarterial Connection Complete Transposition Of Great Vessels Great Vessels Complete Transposition Total Great Vessel Transposition Transposition Of Great Arteries Complete Tga - [Transposition Of The Great Arteries] Tga - [Transposition Of Great Arteries] Tgv - [Transposition Of Great Vessels] Transposition Of Great Vessels Nos Transposed Vessels Nos
Metatarsus Adductus
Pierre Robin Syndrome	Pierre Robin Sequence Glossoptosis, Micrognathia, And Cleft Palate Pierre Robin Syndrome Skeletal Dysplasia Polydactyly Pierre-Robin Syndrome Isolated Pierre Robin Sequence Isolated Pierre-Robin Syndrome PRBNS Robin Sequence Robin Syndrome Isolated Pierre Robin Syndrome
Rare Disease With Pierre Robin Syndrome
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Scoliosis
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Isolated Congenitally Uncorrected Transposition Of The Great Arteries	Isolated Congenitally Uncorrected Transposition Of The Great Vessels
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Opitz-Kaveggia Syndrome	Fg Syndrome Fgs1 Fgs Keller Syndrome OKS Fg Syndrome 1 Fg Syndrome Type 1 Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
Developmental And Epileptic Encephalopathy 87	DEE87 Epileptic Encephalopathy, Early Infantile, 87 Eiee87 Developmental And Epileptic Encephalopathy, 87 Early Infantile Epileptic Encephalopathy 87
Ohdo Syndrome	Young Simpson Syndrome Ohdo Blepharophimosis Syndrome Blepharophimosis Syndrome Ohdo Type Blepharophimosis Intellectual Disability Syndromes Bmrs Blepharophimosis-Intellectual Disability Syndrome Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth Sbbys Syndrome Say Barber Biesecker Young-Simpson Syndrome Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type Bmrs, Ohdo Type Blepharophimosis Syndrome, Ohdo Type Ohdo-Madokoro-Sonoda Syndrome Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type Blepharophimosis - Intellectual Disability Syndrome
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Developmental And Epileptic Encephalopathy 60	DEE60 Epileptic Encephalopathy, Early Infantile, 60 Eiee60 Developmental And Epileptic Encephalopathy, 60 Early Infantile Epileptic Encephalopathy 60
Schuurs-Hoeijmakers Syndrome	SHMS Pacs1-Related Syndrome Mrd17 Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome Intellectual Developmental Disorder, Autosomal Dominant 17 Autosomal Dominant Intellectual Disability-17 Autosomal Dominant Mental Retardation 17 Pacs1 Syndrome Mental Retardation, Autosomal Dominant 17
Atrial Septal Defect 5	ASD5 Atrial Heart Septal Defect 5 Septal Defect, Atrial, Type 5
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Acromesomelic Dysplasia 1	Acromesomelic Dysplasia, Maroteaux Type Amdm Acromesomelic Dysplasia 1, Maroteaux Type AMD1 St. Helena Dysplasia Acromesomelic Dysplasia-1 Acromesomelic Dysplasia Maroteaux Type Acromesomelic Dwarfism Maroteux Type Dysplasia, Acromesomelic, Type 1, Maroteaux Acromesomelic Dysplasia Hunter-Thompson Type
Developmental And Epileptic Encephalopathy 11	Epileptic Encephalopathy, Early Infantile, 11 DEE11 Eiee11 Developmental And Epileptic Encephalopathy, 11 Early Infantile Epileptic Encephalopathy 11 Encephalopathy, Developmental And Epileptic, Type 11
Glass Syndrome	Chromosome 2q32-Q33 Deletion Syndrome Satb2-Associated Syndrome 2q33.1 Microdeletion Syndrome Sas 2q32-Q33 Microdeletion Syndrome 2q32q33 Microdeletion Syndrome Monosomy 2q32 Monosomy 2q32-Q33 Monosomy 2q32q33 2q32 Deletion Syndrome Del(2)(Q32) Del(2)(Q32q33) GLASS 2q32q33 Microdeletion Syndromes Satb2 Syndrome Satb2-Associated Syndrome Due To A Chromosomal Rearrangement Del(2)(Q33.1) Monosomy 2q33.1 Satb2-Associated Syndrome Due To A Pathogenic Variant Satb2-Associated Syndrome Due To A Point Mutation Satb2 Associated Disorder
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Syndromic Intellectual Disability
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08284	MED13L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MED13L	RGD	RGD:1305884
Macaca mulatta	MED13L	VGNC	VGNC:74555
Canis familiaris	MED13L	VGNC	VGNC:43123
Mus musculus	MED13L	MGD	MGI:2670178
Bos taurus	MED13L	VGNC	VGNC:31351
Felis catus	MED13L	VGNC	VGNC:63434
Others	MED13L	NCBI