MED12 - mediator complex subunit 12 Gene

Also Known as Kto; OKS; FGS1; HDKR; HOPA; OPA1; OHDOX; ARC240; CAGH45; MED12S; TNRC11; TRAP230

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9968

About MED12

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:71,118,596-71,142,450 (from NCBI)

This gene has 54 transcripts (splice variants), 192 orthologues, 1 paralogue and is associated with 148 phenotypes. Ubiquitous expression in ovary (RPKM 11.0), spleen (RPKM 10.1) and 25 other tissues.

Summary

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]

MED12 Products (1)

mRNA	Protein	Name
NM_005120.3	NP_005111.2	mediator of RNA polymerase II transcription subunit 12

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables nuclear thyroid hormone receptor binding	IDA IDA: Inferred from direct assay	10198638	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11984006	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	12037571	GOA
enables transcription coregulator activity	IDA IDA: Inferred from direct assay	10198638	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10198638	GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12037571	GOA
involved in positive regulation of transcription initiation by RNA polymerase II	IDA IDA: Inferred from direct assay	12218053	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of CKM complex	IPI IPI: Inferred from physical interaction	19047373	GOA
part of mediator complex	IDA IDA: Inferred from direct assay	10198638	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10235267	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

MED12 Protein Structure

Med12

Med12-LCEWAV

Med12-PQL

0
400
800
1200
1600
2000
2180 a.a.

Protein Preferred Names	Protein Names
mediator of RNA polymerase II transcription subunit 12	CAG repeat protein 45

MED12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	MED12	Q93074	TGFBR2	Homo sapiens	P37173	Anti Bait CoIP	23178117
Intra	MED12	Q93074	MED4	Homo sapiens	Q9NPJ6	Anti Tag CoIP	26496610
Intra	MED12	Q93074	MED4	Homo sapiens	Q9NPJ6	Anti Bait CoIP	21293490
Intra	MED12	Q93074	APLP2	Homo sapiens	Q06481	Pull Down	21293490

Cross: Cross-species interaction Intra: Intraspecies interaction

MED12 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P86959	MED12 Antibody (YA6652)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Lujan-Fryns Syndrome X-Linked Intellectual Disability With Marfanoid Habitus MRXSLF Mental Retardation, X-Linked, With Marfanoid Habitus, 1
Ohdo Syndrome, X-Linked	OHDOX Blepharophimosis-Mental Retardation Syndrome, Maat-Kievit-Brunner Type Ohdo Syndrome, Maat-Kievit-Brunner Type Bmrs, Mkb Type X-Linked Ohdo Syndrome Blepharophimosis - Intellectual Disability Syndrome, Mkb Type Ohdo Syndrome, Mkb Type Blepharophimosis-Intellectual Disability Syndrome, Mkb Type Bmrs, Maat-Kievit-Brunner Type Blepharophimosis-Intellectual Disability Syndrome, Maat-Kievit-Brunner Type Ohdo Syndrome Maat-Kievit-Brunner Type Ohdo Syndrome Mkb Type
Hardikar Syndrome	Cholestasis-Pigmentary Retinopathy-Cleft Palate Syndrome HDKR Cholestasis With Pigmentary Retinopathy And Cleft Palate Syndrome
Med12-Related Disorders	Med12-Related Disorder
Lujan Syndrome	Mental Retardation, X Linked, Marfanoid Habitus Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size And Distinct Craniofacial Anomalies Lfs Lujan-Fryns Syndrome X-Linked Intellectual Deficit With Marfanoid Habitus X-Linked Mental Retardation With Marfanoid Habitus Xlmr With Marfanoid Features Mental Retardation, X-Linked, With Marfanoid Habitus
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Cardiomyopathy, Dilated, 1e	Left Ventricular Noncompaction 9 Left Ventricular Noncompaction 5 Dilated Cardiomyopathy 1e Dilated Cardiomyopathy 1s CMD1E Cdcd2 Cardiomyopathy, Dilated, 1y CMD1Y Cardiomyopathy, Dilated, 1s CMD1S Dilated Cardiomyopathy 1y Dilated Cardiomyopathy With Conduction Defect 2 Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Defect 2 Cardiomyopathy Dilated With Conduction Defect Type 2 Cardiomyopathy, Dilated 1e Cardiomyopathy, Dilated 1s Cardiomyopathy, Dilated 1y Left Ventricular Non-Compaction 5 LVNC5 Left Ventricular Non-Compaction 9 LVNC9 Cardiomyopathy, Dilated, Type 1e Cardiomyopathy, Dilated, Type 1s Cardiomyopathy, Dilated, Type 1y
Corpus Callosum, Agenesis Of	Corpus Callosum Agenesis Agenesis Of The Corpus Callosum Isolated Corpus Callosum Agenesis Acc Non Rare In Europe: Isolated Corpus Callosum Agenesis Congenital Malformation Of Corpus Callosum Deformity Of Corpus Callosum Absence Of Corpus Callosum Absent Corpus Callosum Acc - [Agenesis Of Corpus Callosum] Aplasia Of Corpus Callosum Congenital Absence Of Corpus Callosum Hypoplastic Corpus Callosum Hypoplasia Of Corpus Callosum
Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	Da Silva Syndrome Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
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
Fryns Syndrome	Diaphragmatic Hernia, Abnormal Face, And Distal Limb Anomalies FRNS Moerman Van Den Berghe Fryns Syndrome Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome Nephrotic Syndrome - Frequently Relapsing
Suppression Of Tumorigenicity 12	Prostate Adenocarcinoma Adenocarcinoma Of Prostate ST12 Prostate Adenocarcinoma 1 Pac1
Hydrocephalus, Congenital, 1	Hydrocephaly Ventriculomegaly Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 HYC1 Congenital Non-Communicating Hydrocephalus Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly Congenital Obstructive Hydrocephalus Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 Hydrocephalus
Biliary Tract Disease	Biliary Tract Diseases Biliary Tract Abnormality
Pancreatic Adenocarcinoma	Adenocarcinoma Of The Pancreas Adenocarcinoma Of Pancreas Pancreas Adenocarcinoma Malignant Exocrine Neoplasm Primary Pancreatic Adenocarcinoma Adenocarcinoma Of Islet Cell Of Pancreas Islet Cell Adenocarcinoma Of Unspecified Site Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site
Breast Malignant Phyllodes Tumor	Malignant Cystosarcoma Phyllodes Malignant Phyllodes Tumor Of Breast Malignant Phyllodes Tumour Of Breast Phyllodes Breast Tumor Phyllodes Tumor Of The Breast Breast Malignant Phyllodes Tumour Malignant Mammary Phyllodes Tumor Malignant Mammary Phyllodes Tumour Malignant Phyllodes Neoplasm Malignant Phyllodes Tumor Malignant Phyllodes Tumour Phyllodes Breast Neoplasm Phyllodes Breast Tumour Phyllodes Tumor, Malignant Cystosarcoma Phyllodes Cystosarcoma Phyllodes Of The Breast Phylloides Tumor Malignant Breast Phyllodes Tumor Breast Phyllodes Tumor Phyllodes Tumor Malignant Phyllodes Cystosarcoma Of Unspecified Site
Bizarre Leiomyoma	Atypical Leiomyoma Pleomorphic Leiomyoma Symplastic Leiomyoma
Intravenous Leiomyomatosis	Leiomyomatosis
Uterine Benign Neoplasm
Reproductive Organ Benign Neoplasm
Leiomyomatosis
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Gastric Adenocarcinoma	Adenocarcinoma Of Stomach Stomach Adenocarcinoma Adenocarcinoma Gastric Intestinal Type Adenocarcinoma Of Unspecified Site Diffuse Type Adenocarcinoma Of Unspecified Site
Thoracic Benign Neoplasm	Benign Neoplasm Of Thorax
Breast Benign Neoplasm	Benign Tumour Of Breast Benign Neoplasm Of Female Breast
Leiomyoma Cutis	Cutaneous Leiomyoma Leiomyoma Of The Skin
Blepharophimosis
Dermis Tumor	Dermis Tumour Neoplasm Of Dermis Tumor Of Dermis Tumour Of Dermis
Lung Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Lung Squamous Cell Lung Carcinoma Epidermoid Cell Carcinoma Of The Lung Squamous Cell Lung Cancer
Cellular Leiomyoma
Myoma	Muscle Benign Neoplasm Myomatous Neoplasm Neoplasms, Muscle Tissue Benign Neoplasm Of The Muscle Muscle Neoplasm Muscle Tissue Neoplasm Myomatous Tumor Neoplasm Of Muscle Muscle Neoplasms Myomas
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Atypical Polypoid Adenomyoma
Leiomyoma	Leiomyomatous Neoplasm Leiomyomatous Tumor Leiomyomas Fibroid Tumor Uterine Fibroids
Diffuse Peritoneal Leiomyomatosis	Disseminated Peritoneal Leiomyomatosis Leiomyomatosis Peritonealis Disseminata Dpl Lpd Leiomyomatosis Peritonealis Disseminate
Leiomyosarcoma	Leiomyosarcomas
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Peritoneal Benign Neoplasm
Colon Leiomyoma	Colonic Leiomyoma
Breast Giant Fibroadenoma	Giant Fibroadenoma Giant Fibroadenoma Of Breast
Papillary Hidradenoma	Tubular Sweat Gland Adenomas
Breast Fibroadenoma	Fibroadenoma Fibroadenoma Of Breast Juvenile Fibroadenoma Of Breast Cellular Fibroadenoma Complex Fibroadenoma Of Breast Juvenile Fibroadenoma Fibroadenoma Nos Fibroadenoma Unspecified Site
Constipation
Breast Sarcoma	Sarcoma Of Breast
Adenomyoma
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Smooth Muscle Tumor
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Melnick-Needles Syndrome	MNS Melnick-Needles Osteodysplasty Osteodysplasty Of Melnick And Needles Osteochondrodysplasias
Endometrial Stromal Sarcoma	Ess Endometrial Stromal Sarcoma, High Grade Undifferentiated Endometrial Sarcoma Stromal Sarcoma Of The Corpus Uteri Sarcoma Endometrial Stromal Sarcoma, Endometrial Stromal Undifferentiated Stromal Sarcoma
Hypotonia

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 (7)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-114965	TP-064	Inhibitor	99.29%	Unkown
HY-100360	MS049	Inhibitor	98.0%	Unkown
HY-RS08281	MED12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-100360A	MS049 dihydrochloride	Inhibitor	/	Unkown
HY-RS08282	MED12L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18290	Med12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24768	Med12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MED12	VGNC	VGNC:31349
Mus musculus	MED12	MGD	MGI:1926212
Macaca mulatta	MED12	VGNC	VGNC:74502
Canis familiaris	MED12	VGNC	VGNC:43120
Rattus norvegicus	MED12	RGD	RGD:1585896
Felis catus	MED12	VGNC	VGNC:63431
Others	MED12	NCBI