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DGCR6 DiGeorge syndrome critical region gene 6 [ Homo sapiens (human) ]

Gene ID: 8214, updated on 11-Jan-2020

Summary

Official Symbol
DGCR6provided by HGNC
Official Full Name
DiGeorge syndrome critical region gene 6provided by HGNC
Primary source
HGNC:HGNC:2846
See related
Ensembl:ENSG00000183628 MIM:601279
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Broad expression in heart (RPKM 20.8), testis (RPKM 17.8) and 25 other tissues See more
Orthologs

Genomic context

See DGCR6 in Genome Data Viewer
Location:
22q11.21; 22q11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (18906320..18912088)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18893736..18899601)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Putative uncharacterized protein DKFZp434K191 Neighboring gene BCR pseudogene 7 Neighboring gene family with sequence similarity 230 member F Neighboring gene proline dehydrogenase 1 Neighboring gene human-specific endogenous retroviral insert (PRODH) Neighboring gene DiGeorge syndrome critical region gene 5 Neighboring gene DiGeorge syndrome critical region gene 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein DGCR6
Names
DiGeorge syndrome critical region protein 6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009052.1 RefSeqGene

    Range
    5098..10866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005675.6NP_005666.2  protein DGCR6

    See identical proteins and their annotated locations for NP_005666.2

    Status: REVIEWED

    Source sequence(s)
    AC007326
    Consensus CDS
    CCDS13753.1
    UniProtKB/Swiss-Prot
    Q14129
    UniProtKB/TrEMBL
    X5D7D2
    Related
    ENSP00000331681.6, ENST00000331444.11
    Conserved Domains (1) summary
    pfam07324
    Location:9195
    DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    18906320..18912088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530394.2XP_011528696.1  protein DGCR6 isoform X1

    See identical proteins and their annotated locations for XP_011528696.1

    Conserved Domains (1) summary
    pfam07324
    Location:22126
    DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein
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