2. Gene
  3. MED12L - mediator complex subunit 12L Gene

MED12L - mediator complex subunit 12L Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：介体复合物亚基 12L

种属: Homo sapiens

同用名: NOPAR; TRALP; NIZIDS; TNRC11L; TRALPUSH

基因 ID: 116931 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是 Mediator 复合体的一部分，它参与几乎所有 RNA 聚合酶 II 依赖性基因的转录共激活。 Mediator 复合体将基因特异性转录激活因子与基础转录机制联系起来。[RefSeq 提供，2010 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MED12L 蛋白结构

Med12

Med12: Transcription mediator complex subunit Med12 (103 - 161)

Med12-LCEWAV

Med12-LCEWAV: Eukaryotic Mediator 12 subunit domain (282 - 730)

Med12-PQL

Med12-PQL: Eukaryotic Mediator 12 catenin-binding domain (1819 - 2016)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2145 a.a.
蛋白主名 其他名称

mediator of RNA polymerase II transcription subunit 12-like protein

mediator complex subunit 12 like

MED12L 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra MED12L Q86YW9 MSRB3 Homo sapiens Q8IXL7-2
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08282 MED12L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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