DRP2

dystrophin related protein 2, the group of Zinc fingers ZZ-type

Basic information

Region (hg38): X:101219769-101264502

Links

ENSG00000102385 ∙ NCBI:1821 ∙ OMIM:300052 ∙ HGNC:3032 ∙ Uniprot:Q13474 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Charcot-Marie-Tooth disease (Moderate), mode of inheritance: XL

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DRP2 gene.

• not provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRP2 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			4	69	15	88
missense			214	8	4	226
nonsense	9		1			10
start loss						0
frameshift	2	1	1			4
inframe indel						0
splice donor/acceptor (+/-2bp)		2				2
splice region			10	12	6	28
non coding			2	48	20	70
Total	11	3	222	125	39

Highest pathogenic variant AF is 0.000269

Variants in DRP2

This is a list of pathogenic ClinVar variants found in the DRP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-101231523-G-A			Benign (May 12, 2021)
X-101231657-A-G			Uncertain significance (Sep 28, 2022)
X-101231659-G-T		not specified	Uncertain significance (Sep 11, 2024)
X-101231660-G-A			Uncertain significance (Dec 11, 2024)
X-101231676-C-T		not specified	Uncertain significance (Aug 07, 2024)
X-101231680-C-T			Likely benign (Jul 15, 2024)
X-101231685-T-C			Uncertain significance (Apr 15, 2024)
X-101231690-C-T			Conflicting classifications of pathogenicity (Nov 05, 2023)
X-101231700-A-T			Uncertain significance (Apr 15, 2023)
X-101231709-C-A		not specified	Uncertain significance (Dec 20, 2023)
X-101231721-T-C			Uncertain significance (Jan 29, 2025)
X-101231732-AG-A			Uncertain significance (-)
X-101231740-C-T			Likely benign (May 22, 2022)
X-101231741-C-T			Pathogenic (Oct 03, 2023)
X-101231742-G-A			Conflicting classifications of pathogenicity (Jan 11, 2025)
X-101231753-C-A			Uncertain significance (Aug 18, 2023)
X-101231754-C-T			Uncertain significance (Apr 25, 2023)
X-101231782-A-G			Likely benign (Aug 29, 2024)
X-101235691-A-G			Benign (May 12, 2021)
X-101235848-G-T			Likely benign (Feb 02, 2024)
X-101235849-T-C			Likely benign (Oct 10, 2022)
X-101235857-C-T			Uncertain significance (Aug 07, 2024)
X-101235863-AG-TT			Uncertain significance (Sep 08, 2024)
X-101235864-G-A			Uncertain significance (Dec 08, 2024)
X-101235872-G-T		not specified	Uncertain significance (May 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DRP2	protein_coding	protein_coding	ENST00000395209	22	44729

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000375	1.00	125706	14	23	125743	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.70	292	386	0.757	0.0000312	6279
Missense in Polyphen		95	152.96	0.62108		2402
Synonymous	1.15	124	141	0.877	0.0000108	1829
Loss of Function	3.38	16	38.7	0.414	0.00000299	601

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000657	0.000657
Ashkenazi Jewish	0.00	0.00
East Asian	0.000294	0.000217
Finnish	0.0000630	0.0000462
European (Non-Finnish)	0.000149	0.000105
Middle Eastern	0.000294	0.000217
South Asian	0.0000524	0.0000327
Other	0.000221	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane- cytoskeleton interactions of the central nervous system. {ECO:0000250, ECO:0000250|UniProtKB:Q05AA6}.

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.602
• rvis_EVS: -0.46
• rvis_percentile_EVS: 23.57

Haploinsufficiency Scores

• pHI: 0.572
• hipred: Y
• hipred_score: 0.672
• ghis: 0.597

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.756

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Drp2
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: central nervous system development;synapse organization
• Cellular component: postsynaptic density;cell junction;dendrite;perikaryon;postsynaptic membrane;glutamatergic synapse
• Molecular function: zinc ion binding