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 (442 variants)
not_specified (82 variants)
DRP2-related_disorder (12 variants)
Charcot-Marie-Tooth_disease (4 variants)
Autism (1 variants)
Hereditary_motor_and_sensory_neuropathy (1 variants)
Global_developmental_delay (1 variants)
Charcot-Marie-Tooth_disease_X-linked_dominant_1 (1 variants)
Charcot-Marie-Tooth_disease_type_X (1 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. These statistics are base on transcript: NM_000001939.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			10 clinvar	78 clinvar	13 clinvar	101
missense			257 clinvar	16 clinvar	3 clinvar	276
nonsense	9 clinvar	3 clinvar	3 clinvar			15
start loss						0
frameshift	2 clinvar	2 clinvar	3 clinvar			7
splice donor/acceptor (+/-2bp)		3 clinvar	7 clinvar			10
Total	11	8	280	94	16

Highest pathogenic variant AF is 0.000041338168

Loading clinvar variants...

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
essential_gene_gene_trap
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