MED13L - mediator complex subunit 13L Gene

Homo sapiens

Also known as MRFACD; THRAP2; TRAP240L; PROSIT240

Gene ID: 23389 | Gene type: protein coding

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

Bioactive Molecules (1)

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

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