DRG2

developmentally regulated GTP binding protein 2

Basic information

Region (hg38): 17:18087892-18107970

Links

ENSG00000108591 ∙ NCBI:1819 ∙ OMIM:602986 ∙ HGNC:3030 ∙ Uniprot:P55039 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DRG2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRG2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			13		1	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	3

Variants in DRG2

This is a list of pathogenic ClinVar variants found in the DRG2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-18088069-C-T		not specified	Uncertain significance (Oct 20, 2023)
17-18093894-C-T		not specified	Uncertain significance (Oct 27, 2023)
17-18093948-T-G		not specified	Uncertain significance (Dec 01, 2022)
17-18098365-TG-T			Uncertain significance (-)
17-18099659-G-T		not specified	Uncertain significance (Jun 11, 2021)
17-18099705-C-G		not specified	Uncertain significance (May 27, 2022)
17-18100605-G-A			Benign (Nov 10, 2017)
17-18100635-G-T		not specified	Uncertain significance (Jul 11, 2023)
17-18100650-C-T		not specified	Uncertain significance (Feb 16, 2023)
17-18101502-A-G		not specified	Uncertain significance (Jan 18, 2023)
17-18101548-C-T			Benign (Nov 10, 2017)
17-18101933-A-C		not specified	Uncertain significance (Aug 30, 2022)
17-18101945-T-C		not specified	Uncertain significance (Dec 09, 2023)
17-18101954-G-A		not specified	Uncertain significance (Oct 06, 2022)
17-18103841-C-G		not specified	Uncertain significance (Oct 12, 2022)
17-18106462-C-G		not specified	Uncertain significance (May 17, 2023)
17-18107222-C-T			Benign (Dec 26, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DRG2	protein_coding	protein_coding	ENST00000225729	13	20086

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.21e-7	0.965	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.82	152	230	0.662	0.0000143	2349
Missense in Polyphen		59	106.27	0.55519		1031
Synonymous	0.165	96	98.1	0.979	0.00000683	716
Loss of Function	1.99	14	24.7	0.567	0.00000142	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000155	0.000152
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.0000544	0.0000544
South Asian	0.000101	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in cell proliferation, differentiation and death.

Recessive Scores

• pRec: 0.123

Intolerance Scores

• loftool: 0.493
• rvis_EVS: 0.19
• rvis_percentile_EVS: 67.03

Haploinsufficiency Scores

• pHI: 0.203
• hipred: Y
• hipred_score: 0.575
• ghis: 0.510

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.674

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Drg2
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; limbs/digits/tail phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: cytoplasmic translation;signal transduction
• Cellular component: nucleoplasm;cytoplasm;cytosol;membrane;intracellular membrane-bounded organelle
• Molecular function: protein binding;GTP binding