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

Gene ID: 8214, updated on 17-Feb-2018
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; Vega:OTTHUMG00000150162
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
Location:
22q11.21; 22q11
Exon count:
6
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (18906223..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 breakpoint cluster region pseudogene 7 Neighboring gene long intergenic non-protein coding RNA 1663 Neighboring gene proline dehydrogenase 1 Neighboring gene DiGeorge syndrome critical region gene 5 (non-protein coding) Neighboring gene DiGeorge syndrome critical region gene 9 (non-protein coding)

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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
nucleus IEA
Inferred from Electronic Annotation
more info
 
proteinaceous extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
protein DGCR6
Names
DiGeorge syndrome critical region protein 6

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
    5001..10866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005675.4NP_005666.2  protein DGCR6

    See identical proteins and their annotated locations for NP_005666.2

    Status: REVIEWED

    Source sequence(s)
    BC033306, BC047039, BQ639188, DW432909
    Consensus CDS
    CCDS13753.1
    UniProtKB/Swiss-Prot
    Q14129
    UniProtKB/TrEMBL
    X5D7D2
    Related
    ENSP00000331681.6, OTTHUMP00000196491, ENST00000331444.10, OTTHUMT00000316631
    Conserved Domains (1) summary
    pfam07324
    Location:9195
    DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

    Range
    18906223..18912088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530394.1XP_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

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    18893495..18899360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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