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DGCR6L DiGeorge syndrome critical region gene 6 like [ Homo sapiens (human) ]

Gene ID: 85359, updated on 1-Mar-2024

Summary

Official Symbol
DGCR6Lprovided by HGNC
Official Full Name
DiGeorge syndrome critical region gene 6 likeprovided by HGNC
Primary source
HGNC:HGNC:18551
See related
Ensembl:ENSG00000128185 MIM:609459; AllianceGenome:HGNC:18551
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
Also known as
DGCR6
Summary
This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 44.7), kidney (RPKM 21.1) and 25 other tissues See more
Orthologs
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Genomic context

See DGCR6L in Genome Data Viewer
Location:
22q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20314238..20320060, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20695563..20701383, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20301761..20307583, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene reticulon 4 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20243726-20244270 Neighboring gene microRNA 1286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20254685-20255373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20262187-20262687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20269715-20270454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20270455-20271195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20271196-20271935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20280047-20280548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20285530-20286031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13492 Neighboring gene proline dehydrogenase like, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20300941-20301496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20301497-20302050 Neighboring gene Sharpr-MPRA regulatory region 9836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20307869-20308656 Neighboring gene family with sequence similarity 230 member G Neighboring gene MPRA-validated peak4456 silencer Neighboring gene uncharacterized LOC124905153 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20708428-20708649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20715037-20715538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20715539-20716038

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ10666

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein DGCR6L
Names
diGeorge syndrome critical region 6-like protein

NCBI Reference Sequences (RefSeq)

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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_046957.1 RefSeqGene

    Range
    5046..10868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033257.4NP_150282.2  protein DGCR6L

    See identical proteins and their annotated locations for NP_150282.2

    Status: REVIEWED

    Source sequence(s)
    AC007663, BC000682
    Consensus CDS
    CCDS13778.1
    UniProtKB/Swiss-Prot
    A8K1N7, B3KMC0, D3DX29, Q9BW33, Q9BY27
    UniProtKB/TrEMBL
    X5DP20
    Related
    ENSP00000248879.2, ENST00000248879.8
    Conserved Domains (1) summary
    pfam07324
    Location:9194
    DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    20314238..20320060 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20695563..20701383 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)