DGCR8 - DGCR8 microprocessor complex subunit Gene

Also Known as Gy1; pasha; DGCRK6; C22orf12

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54487

About DGCR8

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,080,241-20,111,872 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues and is associated with 63 phenotypes. Ubiquitous expression in testis (RPKM 13.8), placenta (RPKM 10.2) and 25 other tissues.

Summary

This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of MicroRNAs from the primary MicroRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

DGCR8 Products (2)

mRNA Protein Name
NM_001190326.2 NP_001177255.1 microprocessor complex subunit DGCR8 isoform 2
NM_022720.7 NP_073557.3 microprocessor complex subunit DGCR8 isoform 1
Molecular Function GO Annotation Evidence References Source
enables double-stranded RNA binding IDA
IDA: Inferred from direct assay
17704815 GOA
enables heme binding IDA
IDA: Inferred from direct assay
24449907 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
15574589 GOA
enables primary miRNA binding IDA
IDA: Inferred from direct assay
24910438 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15574589 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
15574589 GOA
enables protein-RNA adaptor activity IDA
IDA: Inferred from direct assay
15574589 GOA
enables protein-macromolecule adaptor activity IDA
IDA: Inferred from direct assay
34188037 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
34188037 GOA
involved in positive regulation of pre-miRNA processing IDA
IDA: Inferred from direct assay
15574589 GOA
acts upstream of or within primary miRNA processing IDA
IDA: Inferred from direct assay
15531877 GOA
involved in primary miRNA processing IDA
IDA: Inferred from direct assay
15574589 GOA
Cellular Component GO Annotation Evidence References Source
part of microprocessor complex IDA
IDA: Inferred from direct assay
15574589 GOA
part of microprocessor complex IPI
IPI: Inferred from physical interaction
24581491 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15574589 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

DGCR8 Protein Structure

dsrm

dsrm: Double-stranded RNA binding motif (515 - 576)

dsrm

dsrm: Double-stranded RNA binding motif (620 - 684)

  • 0
  • 200
  • 400
  • 600
  • 773 a.a.
Protein Preferred Names Protein Names

microprocessor complex subunit DGCR8

  • DiGeorge syndrome critical region 8

DGCR8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DGCR8 Q8WYQ5 DROSHA Homo sapiens Q9NRR4 22796965
Intra
DGCR8 Q8WYQ5 DROSHA Homo sapiens Q9NRR4 33961781
Intra
DGCR8 Q8WYQ5 DROSHA Homo sapiens Q9NRR4 26496610
Intra
DGCR8 Q8WYQ5 DROSHA Homo sapiens Q9NRR4 15574589
Intra
DGCR8 Q8WYQ5 DROSHA Homo sapiens Q9NRR4
GMS
24581491
Intra
DGCR8 Q8WYQ5 MEOX2 Homo sapiens P50222 25416956
Intra
DGCR8 Q8WYQ5 SRPK1 Homo sapiens Q96SB4 33961781
Intra
DGCR8 Q8WYQ5 SRPK1 Homo sapiens Q96SB4 23602568
Intra
DGCR8 Q8WYQ5 MEOX2 Homo sapiens P50222 25416956
Intra
DGCR8 Q8WYQ5 DGCR8 Homo sapiens Q8WYQ5 15574589
Intra
DGCR8 Q8WYQ5 SRPK1 Homo sapiens Q96SB4 23602568
Intra
DGCR8 Q8WYQ5 DGCR8 Homo sapiens Q8WYQ5
GMS
17159994
Cross: Cross-species interaction Intra: Intraspecies interaction

DGCR8 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82935 DGCR8 Antibody (YA2680) WB, ICC/IF, IP Human, Mouse, Rat
HY-P82935A DGCR8 Antibody (YA2680)(PBS only) WB, ICC/IF, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
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

Acrocephalopolysyndactyly Type Iii
  • Sakati Syndrome

  • Sakati-Nyhan Syndrome

  • Acps With Leg Hypoplasia

  • Acps Iii

  • Acrocephalopolysyndactyly Type 3

  • Sakati-Nyhan-Tisdale Syndrome

Chromosomal Deletion Syndrome
X-Linked Hereditary Ataxia
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

Pineoblastoma
  • Pineal Pnet

  • Pinealoma

  • Pineal Gland Neoplasm

  • Pineocytoma

  • Tumor Of The Pineal Region

Fragile X-Associated Tremor/Ataxia Syndrome
  • Fxtas Syndrome

  • Fragile X Tremor/Ataxia Syndrome

  • Fxtas

Pineal Gland Cancer
  • Tumor Of The Pineal Region

  • Malignant Pineal Region Tumor

  • Malignant Tumor Of Pineal Gland

  • Neoplasm Of Pineal Gland

  • Neoplasm Of The Pineal Region

  • Pineal Body Neoplasm

  • Pineocytic Tumor

  • Malignant Neoplasm Of Pineal Gland

  • Pineal Gland Neoplasm

  • Pineocytoma

Premature Ovarian Failure 1
  • Ovarian Failure, Premature

  • Fmr1-Related Primary Ovarian Insufficiency

  • Fragile X-Associated Primary Ovarian Insufficiency

  • POF1

  • Pofx

  • Hypergonadotropic Ovarian Failure, X-Linked

  • Pof

  • Primary Ovarian Insufficiency, Fragile X-Associated

  • Primary Ovarian Insufficiency 1

  • Ovarian Failure Premature

  • Premature Ovarian Failure, X-Linked

  • Fragile X Premature Ovarian Failure

  • Fmr1-Related Premature Ovarian Failure

  • Familial Premature Ovarian Failure

  • Idiopathic Familial Premature Ovarian Failure

  • Fxpoi

  • X-Linked Hypergonadotropic Ovarian Failure

  • Hypergonadotropic Ovarian Failure X-Linked

  • Poi

  • Premature Ovarian Failure X-Linked

  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure-1

  • Ovarian Failure, Premature, Type 1

  • Premature Ovarian Failure, Familial

  • Premature Menopause

  • Primary Hypogonadism

  • Turner Syndrome

Chromosomal Disease
  • Chromosomal Disorders

  • Congenital Chromosomal Disease

Synchronous Bilateral Breast Carcinoma
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
  • Wilson-Turner Syndrome

  • WTS

  • Mrxs6

  • X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

  • Mrxswt

  • Wilson-Turner X-Linked Mental Retardation Syndrome

  • Mental Retardation, X-Linked, Syndromic 6

  • Mental Retardation, X-Linked, With Gynecomastia And Obesity

  • Intellectual Disability, X-Linked, Syndromic 6

  • Intellectual Disability, X-Linked, With Gynecomastia And Obesity

  • Wilson Turner Intellectual Disability Syndrome

  • X-Linked Intellectual Disability - Gynecomastia - Obesity

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Wilms Tumor 1
  • Nephroblastoma

  • Wilms Tumor

  • WT1

  • Wilms' Tumor

  • Bilateral Wilms Tumor

  • Wilms Tumor, Type 1

  • Wilms Tumor, Somatic

  • Adult Nephroblastoma

  • Wt1 Disorder

  • Renal Embryonic Tumor

  • Adult Kidney Wilms Tumor

  • Childhood Kidney Wilms Tumor

  • Nonanaplastic Kidney Wilms Tumor

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DGCR8 RGD RGD:1306365
Bos taurus DGCR8 VGNC VGNC:28023
Felis catus DGCR8 VGNC VGNC:61457
Mus musculus DGCR8 MGD MGI:2151114
Macaca mulatta DGCR8 VGNC VGNC:71779
Others DGCR8 NCBI