Dgcr2 DiGeorge syndrome critical region gene 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dgcr2provided by MGI
Official Full Name: DiGeorge syndrome critical region gene 2provided by MGI
Primary source: MGI:MGI:892866
See related: Ensembl:ENSMUSG00000003166 AllianceGenome:MGI:892866
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Idd; Lan; Dgsc; DGS-C; Sez12; mKIAA0163; 9930034O06Rik
Summary: Predicted to enable carbohydrate binding activity. Acts upstream of or within response to xenobiotic stimulus. Located in membrane. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and limb primordium. Orthologous to human DGCR2 (DiGeorge syndrome critical region gene 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 64.5), testis adult (RPKM 49.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A3; 16 11.05 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (17658219..17709592, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (17840355..17891728, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of the schizophrenia risk-gene Dgcr2 alters early microcircuit development in the mouse medial prefrontal cortex.
Title: Downregulation of the schizophrenia risk-gene Dgcr2 alters early microcircuit development in the mouse medial prefrontal cortex.
SZ-risk gene DGCR2 regulates critical steps of early corticogenesis possibly through a Reelin-dependent mechanism.
Title: The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis.
GPIb alpha contributes to the control of tumor metastasis, in addition to its role in hemostasis
Title: Inhibition of platelet GPIb alpha and promotion of melanoma metastasis.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW554570 (e-PCR)
- UniSTS:209177

Dgcr2 (e-PCR), detects polymorphism
- UniSTS:260485

NoName (e-PCR)
- UniSTS:237453

D78641 (e-PCR)
- UniSTS:186059

Dgcr2 (e-PCR), detects polymorphism
- UniSTS:256467

Dgcr2 (e-PCR), detects polymorphism
- UniSTS:265701

Dgsc (e-PCR), detects polymorphism
- UniSTS:142846

Dgsc (e-PCR), detects polymorphism
- UniSTS:142847

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cognition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: integral membrane protein DGCR2/IDD

Names: DiGeorge syndrome gene c; DiGeorge syndrome protein C; seizure-related membrane-bound adhesion 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.

mRNA and Protein(s)

NM_001109750.1 → NP_001103220.1 integral membrane protein DGCR2/IDD isoform 2 precursor

See identical proteins and their annotated locations for NP_001103220.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate splice site, which results in lacking of 9 nts on the site, as compared to variant 1. The resulting isoform 2 is shorter but has identical N- and C-termini, compared to isoform 1.

Source sequence(s)

BC060636, BY123353, D78641

Consensus CDS

CCDS49785.1

UniProtKB/TrEMBL

A0A0R4J1M6, Q3TQ62

Related

ENSMUSP00000112783.2, ENSMUST00000117945.8

Conserved Domains (3) summary

cd03599
Location:111 → 263

CLECT_DGCR2_like; C-type lectin-like domain (CTLD) of the type found in DGCR2, an integral membrane protein deleted in DiGeorge Syndrome (DGS)

smart00214
Location:267 → 325

VWC; von Willebrand factor (vWF) type C domain

cd00112
Location:30 → 66

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
NM_010048.3 → NP_034178.2 integral membrane protein DGCR2/IDD isoform 1 precursor

See identical proteins and their annotated locations for NP_034178.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC060636, BY123353

Consensus CDS

CCDS37276.1

UniProtKB/TrEMBL

E9QNU3, Q6P5A9

Related

ENSMUSP00000012152.7, ENSMUST00000012152.13

Conserved Domains (3) summary

cd03599
Location:114 → 266

CLECT_DGCR2_like; C-type lectin-like domain (CTLD) of the type found in DGCR2, an integral membrane protein deleted in DiGeorge Syndrome (DGS)

smart00214
Location:270 → 328

VWC; von Willebrand factor (vWF) type C domain

cd00112
Location:30 → 66

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...