2. Gene
  3. CC2D1A - coiled-coil and C2 domain containing 1A Gene

CC2D1A - coiled-coil and C2 domain containing 1A Gene

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

中文名称：含卷曲螺旋和 C2 结构域 1A

种属: Homo sapiens

同用名: Lgd2; MRT3; TAPE; Aki-1; FREUD-1; Freud-1/Aki1

基因 ID: 54862 | 基因类型: protein coding

关于 CC2D1A

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:13,906,201-13,930,879 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 121 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 16.8), small intestine (RPKM 12.5) and 25 other tissues.

功能概要

该基因编码一个转录阻遏物，该阻遏物与保守的 14-bp 5'-阻遏物元件结合并调节神经元细胞中 5-羟色胺 (血清素) 受体 1A 基因的表达。蛋白质的 DNA 结合和转录抑制活性被钙抑制。该基因的突变会导致非综合征形式的认知障碍 (MRT3) 。[RefSeq 提供，2017 年 7 月]

This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]

CC2D1A 基因产物(2)

mRNA Protein Name
NM_001411138.1 NP_001398067.1 coiled-coil and C2 domain-containing protein 1A isoform 2
NM_017721.5 NP_060191.3 coiled-coil and C2 domain-containing protein 1A isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
12917378 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
12917378 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16730941 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of snRNA transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12917378 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

CC2D1A 蛋白结构

C2

C2: C2 domain (661 - 754)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 951 a.a.
蛋白主名 其他名称

coiled-coil and C2 domain-containing protein 1A

Akt kinase-interacting protein 1

CC2D1A 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
种属内
CC2D1A Q6P1N0 CHMP4B Homo sapiens Q9H444
Y2H
16730941
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
Intellectual Developmental Disorder, Autosomal Recessive 3

MRT3

Autosomal Recessive Intellectual Developmental Disorder 3

Mental Retardation, Autosomal Recessive 3
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed
Marshall-Smith Syndrome

MRSHSS

Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome

Mss
Pitt-Hopkins-Like Syndrome 2

PTHSL2

Mesh

D006985

Mesh

D008607
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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-RS02018 CC2D1A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CC2D1A VGNC VGNC:70677
Canis familiaris CC2D1A VGNC VGNC:38771
Rattus norvegicus CC2D1A RGD RGD:1306108
Mus musculus CC2D1A MGD MGI:2384831
Felis catus CC2D1A VGNC VGNC:60436
Bos taurus CC2D1A VGNC VGNC:26824
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