1. Gene
  2. DGCR6 - DiGeorge syndrome critical region gene 6 Gene

DGCR6 - DiGeorge syndrome critical region gene 6 Gene

中文名称:DiGeorge 综合征临界区基因 6

种属: Homo sapiens

基因 ID: 8214 | 基因类型: protein coding

关于 DGCR6

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:18,906,223-18,912,088 (from NCBI)

This gene has 8 transcripts (splice variants), 203 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in heart (RPKM 20.8), testis (RPKM 17.8) and 25 other tissues.

功能概要

DiGeorge 综合征,以及更广泛的 CATCH 22 综合征,与染色体区域 22q11.2 的微缺失有关。该基因的产物与参与性腺和生殖细胞发育的黑腹果蝇性腺蛋白以及人层粘连蛋白的 gamma-1 亚基具有同源性。该基因是参与 DiGeorge 综合征病理学和精神分裂症的候选基因。[RefSeq 提供,2008 年 11 月]

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]

DGCR6 基因产物(1)

mRNA Protein Name
NM_005675.6 NP_005666.2 protein DGCR6
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

DGCR6 蛋白结构

DGCR6

DGCR6: DiGeorge syndrome critical region 6 (DGCR6) protein (1 - 194)

  • 0
  • 100
  • 200
  • 220 a.a.
蛋白主名 其他名称

protein DGCR6

DiGeorge syndrome critical region protein 6

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

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

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

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus DGCR6 MGD MGI:1202877
Rattus norvegicus DGCR6 RGD RGD:1309390