MED12L - mediator complex subunit 12L Gene

Homo sapiens

Also known as NOPAR; TRALP; NIZIDS; TNRC11L; TRALPUSH

Gene ID: 116931 | Gene type: protein coding

About MED12L

Cytogenetic location: 3q25.1 Genomic coordinates (GRCh38): 3:151,085,664-151,436,653 (from NCBI)

This gene has 14 transcripts (splice variants), 126 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in testis (RPKM 2.2), brain (RPKM 1.5) and 18 other tissues.

Summary

The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]

MED12L Products(2)

mRNA	Protein	Name
NM_001393769.1	NP_001380698.1	mediator of RNA polymerase II transcription subunit 12-like protein isoform 1
NM_053002.6	NP_443728.3	mediator of RNA polymerase II transcription subunit 12-like protein isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MED12L Protein Structure

Med12

Med12-LCEWAV

Med12-PQL

0
400
800
1200
1600
2000
2145 a.a.

Protein Preferred Names

Protein Names

mediator of RNA polymerase II transcription subunit 12-like protein

mediator complex subunit 12 like

MED12L Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MED12L	Q86YW9	MSRB3	Homo sapiens	Q8IXL7-2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Nizon-Isidor Syndrome

NIZIDS

Bleeding Disorder, Platelet-Type, 8

Bleeding Disorder Due To P2ry12 Defect	Platelet-Type Bleeding Disorder 8
BDPLT8	Adp Platelet Receptor P2y12 Defect
P2y12 Defect	Bleeding Disorder Due To Adp Platelet Receptor P2y12 Defect
Bleeding Disorder Due To P2y12 Defect	Bleeding Disorder Due To P2rx1 Defect, Somatic
Bleeding Disorder, Platelet-Type 8	Adp Platelet Receptor P2y12 Deficiency
P2ry12 Deficiency	P2y12 Deficiency
Bleeding Disorder, Platelet Type 8

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Autosomal Dominant Non-Syndromic Intellectual Disability

Developmental And Epileptic Encephalopathy 87

DEE87	Epileptic Encephalopathy, Early Infantile, 87
Eiee87	Developmental And Epileptic Encephalopathy, 87
Early Infantile Epileptic Encephalopathy 87

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

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

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

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-RS08282	MED12L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MED12L	VGNC	VGNC:43121
Rattus norvegicus	MED12L	RGD	RGD:1592212
Macaca mulatta	MED12L	VGNC	VGNC:74515
Mus musculus	MED12L	MGD	MGI:2139916
Felis catus	MED12L	VGNC	VGNC:63432
Bos taurus	MED12L	VGNC	VGNC:53588

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