2. Gene
  3. DGCR2 - DiGeorge syndrome critical region gene 2 Gene

DGCR2 - DiGeorge syndrome critical region gene 2 Gene

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

中文名称：DiGeorge 综合征临界区基因 2

种属: Homo sapiens

同用名: IDD; LAN; DGS-C; SEZ-12

基因 ID: 9993 | 基因类型: protein coding

关于 DGCR2

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,036,286-19,122,412 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 24.0), skin (RPKM 23.8) and 25 other tissues.

功能概要

22q11.2 的缺失与广泛的发育缺陷 (特别是 DiGeorge 综合征、腭心面综合征、圆锥干面部异常综合征和孤立的圆锥干心脏缺陷) 相关，这些缺陷被归类为首字母缩写词 CATCH 22。DGCR2 基因编码一种新的推定粘附受体蛋白质，它可能在神经嵴细胞迁移中发挥作用，这一过程已被提议在 DiGeorge 综合征中改变。可变剪接导致多个转录变体。[RefSeq 提供，2010 年 5 月]

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

DGCR2 基因产物(4)

mRNA Protein Name
NM_001173533.2 NP_001167004.1 integral membrane protein DGCR2/IDD isoform 2 precursor
NM_001173534.2 NP_001167005.1 integral membrane protein DGCR2/IDD isoform 3 precursor
NM_001184781.2 NP_001171710.1 integral membrane protein DGCR2/IDD isoform 4 precursor
NM_005137.3 NP_005128.1 integral membrane protein DGCR2/IDD isoform 1 precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cognition IMP
IMP: 通过突变表型推断
23227193 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

DGCR2 蛋白结构

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (29 - 66)

Lectin_C

Lectin_C: Lectin C-type domain (136 - 267)

  • 0
  • 100
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  • 500
  • 550 a.a.
蛋白主名 其他名称

integral membrane protein DGCR2/IDD

DiGeorge syndrome critical region protein 2

关联疾病

疾病名称 别名
Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2

Distal Monosomy 10p

Dgs2

Digeorge Syndrome/Velocardiofacial Syndrome Complex-2

Distal 10p Deletion

Monosomy 10pter

Telomeric Deletion 10p

Digeorge Syndrome-Velocardiofacial Syndrome Complex 2
Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome

DGS

Hypoplasia Of Thymus And Parathyroids

Third And Fourth Pharyngeal Pouch Syndrome

22q11.2 Deletion Syndrome

Digeorge Sequence

Digeorge'S Syndrome

Pharyngeal Pouch Syndrome

Di-George Syndrome

Shprintzen Syndrome
Hypoparathyroidism-Deafness-Renal Disease Syndrome

Barakat Syndrome

Hypoparathyroidism, Deafness, Renal Disease Syndrome

Hdr Syndrome

Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Van Den Ende-Gupta Syndrome

VDEGS

Blepharophimosis, Arachnodactyly, And Congenital Contractures

Marden-Walker-Like Syndrome

Marden-Walker-Like Syndrome Without Psychomotor Retardation

Marden Walker Like Syndrome

Marden-Walker-Like Syndrome Without Psychmotor Retardation

Van Den Ende Gupta Syndrome

Marden Walker Like Syndrome Without Psychomotor Retardation

Blepharophimosis Arachnodactyly And Congenital Contractures
Schizophreniform Disorder

Schizophreniform Disorders

Psychotic Disorders
Chromosomal Deletion Syndrome
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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-RS03712 DGCR2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus DGCR2 MGD MGI:892866
Rattus norvegicus DGCR2 RGD RGD:1310567
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