MED12L - mediator complex subunit 12L Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 116931

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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	MED12L	NCBI