Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1821
Gene name	Dystrophin related protein 2
Gene symbol	DRP2
Synonyms (NCBI Gene)	DRP-2
Chromosome	X
Chromosome location	Xq22.1
Summary	Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-term

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs753185936	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1556419606	C>T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant

135

Show/Hide all (135)

miRTarBase ID	miRNA	Experiments	Reference
MIRT497198	hsa-miR-4446-3p	PAR-CLIP	22291592
MIRT497197	hsa-miR-4699-5p	PAR-CLIP	22291592
MIRT497196	hsa-miR-4695-3p	PAR-CLIP	22291592
MIRT497195	hsa-miR-4656	PAR-CLIP	22291592
MIRT497194	hsa-miR-7641	PAR-CLIP	22291592
MIRT497198	hsa-miR-4446-3p	PAR-CLIP	22291592
MIRT497197	hsa-miR-4699-5p	PAR-CLIP	22291592
MIRT497196	hsa-miR-4695-3p	PAR-CLIP	22291592
MIRT497195	hsa-miR-4656	PAR-CLIP	22291592
MIRT497194	hsa-miR-7641	PAR-CLIP	22291592
MIRT945426	hsa-miR-1	CLIP-seq
MIRT945427	hsa-miR-125a-5p	CLIP-seq
MIRT945428	hsa-miR-125b	CLIP-seq
MIRT945429	hsa-miR-1261	CLIP-seq
MIRT945430	hsa-miR-1276	CLIP-seq
MIRT945431	hsa-miR-1290	CLIP-seq
MIRT945432	hsa-miR-129-3p	CLIP-seq
MIRT945433	hsa-miR-1299	CLIP-seq
MIRT945434	hsa-miR-134	CLIP-seq
MIRT945435	hsa-miR-203	CLIP-seq
MIRT945436	hsa-miR-206	CLIP-seq
MIRT945437	hsa-miR-2117	CLIP-seq
MIRT945438	hsa-miR-217	CLIP-seq
MIRT945439	hsa-miR-2681	CLIP-seq
MIRT945440	hsa-miR-3118	CLIP-seq
MIRT945441	hsa-miR-3160-5p	CLIP-seq
MIRT945442	hsa-miR-3545-3p	CLIP-seq
MIRT945443	hsa-miR-3673	CLIP-seq
MIRT945444	hsa-miR-3690	CLIP-seq
MIRT945445	hsa-miR-3925-5p	CLIP-seq
MIRT945446	hsa-miR-4251	CLIP-seq
MIRT945447	hsa-miR-4252	CLIP-seq
MIRT945448	hsa-miR-4273	CLIP-seq
MIRT945449	hsa-miR-4292	CLIP-seq
MIRT945450	hsa-miR-4308	CLIP-seq
MIRT945451	hsa-miR-4311	CLIP-seq
MIRT945452	hsa-miR-4319	CLIP-seq
MIRT945453	hsa-miR-4418	CLIP-seq
MIRT945454	hsa-miR-4522	CLIP-seq
MIRT945455	hsa-miR-4687-5p	CLIP-seq
MIRT945456	hsa-miR-4709-3p	CLIP-seq
MIRT945457	hsa-miR-4727-5p	CLIP-seq
MIRT945458	hsa-miR-4765	CLIP-seq
MIRT945459	hsa-miR-4769-3p	CLIP-seq
MIRT945460	hsa-miR-4773	CLIP-seq
MIRT945461	hsa-miR-4782-5p	CLIP-seq
MIRT945462	hsa-miR-4786-5p	CLIP-seq
MIRT945463	hsa-miR-509-3-5p	CLIP-seq
MIRT945464	hsa-miR-509-5p	CLIP-seq
MIRT945465	hsa-miR-516b	CLIP-seq
MIRT945466	hsa-miR-522	CLIP-seq
MIRT945467	hsa-miR-548b-3p	CLIP-seq
MIRT945468	hsa-miR-580	CLIP-seq
MIRT945469	hsa-miR-583	CLIP-seq
MIRT945470	hsa-miR-613	CLIP-seq
MIRT945471	hsa-miR-769-5p	CLIP-seq
MIRT945472	hsa-miR-943	CLIP-seq
MIRT945473	hsa-miR-1179	CLIP-seq
MIRT945474	hsa-miR-1265	CLIP-seq
MIRT945475	hsa-miR-196a	CLIP-seq
MIRT945476	hsa-miR-196b	CLIP-seq
MIRT945477	hsa-miR-2392	CLIP-seq
MIRT945478	hsa-miR-30a	CLIP-seq
MIRT945479	hsa-miR-30b	CLIP-seq
MIRT945480	hsa-miR-30c	CLIP-seq
MIRT945481	hsa-miR-30d	CLIP-seq
MIRT945482	hsa-miR-30e	CLIP-seq
MIRT945483	hsa-miR-3140-3p	CLIP-seq
MIRT945484	hsa-miR-3160-3p	CLIP-seq
MIRT945444	hsa-miR-3690	CLIP-seq
MIRT945485	hsa-miR-3927	CLIP-seq
MIRT945486	hsa-miR-4254	CLIP-seq
MIRT945487	hsa-miR-4633-3p	CLIP-seq
MIRT945488	hsa-miR-4652-3p	CLIP-seq
MIRT945489	hsa-miR-4698	CLIP-seq
MIRT945490	hsa-miR-4700-3p	CLIP-seq
MIRT945460	hsa-miR-4773	CLIP-seq
MIRT945491	hsa-miR-578	CLIP-seq
MIRT945492	hsa-miR-651	CLIP-seq
MIRT1979886	hsa-miR-3180-5p	CLIP-seq
MIRT1979887	hsa-miR-3202	CLIP-seq
MIRT1979888	hsa-miR-4277	CLIP-seq
MIRT1979889	hsa-miR-4487	CLIP-seq
MIRT1979890	hsa-miR-4533	CLIP-seq
MIRT945488	hsa-miR-4652-3p	CLIP-seq
MIRT945458	hsa-miR-4765	CLIP-seq
MIRT945491	hsa-miR-578	CLIP-seq
MIRT1979891	hsa-miR-668	CLIP-seq
MIRT2215076	hsa-miR-103a	CLIP-seq
MIRT2215077	hsa-miR-107	CLIP-seq
MIRT2215078	hsa-miR-125a-3p	CLIP-seq
MIRT2215079	hsa-miR-1262	CLIP-seq
MIRT2215080	hsa-miR-1266	CLIP-seq
MIRT945434	hsa-miR-134	CLIP-seq
MIRT2215081	hsa-miR-140-5p	CLIP-seq
MIRT945440	hsa-miR-3118	CLIP-seq
MIRT945484	hsa-miR-3160-3p	CLIP-seq
MIRT2215082	hsa-miR-3164	CLIP-seq
MIRT2215083	hsa-miR-342-5p	CLIP-seq
MIRT2215084	hsa-miR-3545-5p	CLIP-seq
MIRT2215085	hsa-miR-3620	CLIP-seq
MIRT2215086	hsa-miR-3664-3p	CLIP-seq
MIRT945444	hsa-miR-3690	CLIP-seq
MIRT2215087	hsa-miR-3714	CLIP-seq
MIRT2215088	hsa-miR-3934	CLIP-seq
MIRT2215089	hsa-miR-3978	CLIP-seq
MIRT945450	hsa-miR-4308	CLIP-seq
MIRT2215090	hsa-miR-4450	CLIP-seq
MIRT2215091	hsa-miR-4460	CLIP-seq
MIRT2215092	hsa-miR-4493	CLIP-seq
MIRT2215093	hsa-miR-4518	CLIP-seq
MIRT945454	hsa-miR-4522	CLIP-seq
MIRT2215094	hsa-miR-4535	CLIP-seq
MIRT2215095	hsa-miR-4651	CLIP-seq
MIRT2215096	hsa-miR-4664-5p	CLIP-seq
MIRT2215097	hsa-miR-4701-3p	CLIP-seq
MIRT2215098	hsa-miR-4708-3p	CLIP-seq
MIRT2215099	hsa-miR-4727-3p	CLIP-seq
MIRT2215100	hsa-miR-4738-3p	CLIP-seq
MIRT2215101	hsa-miR-491-5p	CLIP-seq
MIRT2215102	hsa-miR-492	CLIP-seq
MIRT2215103	hsa-miR-608	CLIP-seq
MIRT2215104	hsa-miR-764	CLIP-seq
MIRT2215105	hsa-miR-875-3p	CLIP-seq
MIRT2387115	hsa-miR-4320	CLIP-seq
MIRT2519539	hsa-miR-150	CLIP-seq
MIRT2519540	hsa-miR-3127-3p	CLIP-seq
MIRT2519541	hsa-miR-4707-3p	CLIP-seq
MIRT2519542	hsa-miR-4713-5p	CLIP-seq
MIRT2519543	hsa-miR-532-3p	CLIP-seq
MIRT2519539	hsa-miR-150	CLIP-seq
MIRT2519540	hsa-miR-3127-3p	CLIP-seq
MIRT2519541	hsa-miR-4707-3p	CLIP-seq
MIRT2519542	hsa-miR-4713-5p	CLIP-seq
MIRT2519543	hsa-miR-532-3p	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	TAS	8640231
GO:0008270	Function	Zinc ion binding	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099536	Process	Synaptic signaling	IBA

MIM	HGNC	e!Ensembl
300052	3032	ENSG00000102385

Q13474

Protein name

Dystrophin-related protein 2 (DRP-2)

Protein 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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00435	Spectrin	210 → 337	Spectrin repeat	Domain
PF00397	WW	354 → 383	WW domain	Domain
PF09068	EF-hand_2	386 → 504	EF hand	Domain
PF09069	EF-hand_3	508 → 599	EF-hand	Domain
PF00569	ZZ	604 → 648	Zinc finger, ZZ type	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in fetal brain. {ECO:0000269|PubMed:8640231}.

Sequence

MQPMVMQGCPYTLPRCHDWQAADQFHHSSSLRSTCPHPQVRAAVTSPAPPQDGAGVPCLS
LKLLNGSVGASGPLEPPAMNLCWNEIKKKSHNLRARLEAFSDHSGKLQLPLQEIIDWLSQ
KDEELSAQLPLQGDVALVQQEKETHAAFMEEVKSRGPYIYSVLESAQAFLSQHPFEELEE
PHSESKDTSPKQRIQNLSRFVWKQATVASELWEKLTARCVDQHRHIERTLEQLLEIQGAM
EELSTTLSQAEGVRATWEPIGDLFIDSLPEHIQAIKLFKEEFSPMKDGVKLVNDLAHQLA
ISDVHLSMENSQALEQINVRWKQLQASVSERLKQLQDAHRDFGPGSQHFLSSSVQVPWER
AISPNKVPYYINHQAQTTCWDHPKMTELYQTLADLNNIKFSAYRTAMKLRRVQKALRLDL
VTLTTALEIFNEHDLQASEHVMDVVEVIHCLTALYERLEEERGILVNVPLCVDMSLNWLL
NVFDSGRSGKMRALSFKTGIACLCGTEVKEKLQYLFSQVANSGSQCDQRHLGVLLHEAIQ
VPRQLGEVAAFGGSNVEPSVRSCFRFSTGKPVIEASQFLEWVNLEPQSMVWLAVLHRVTI
AEQVKHQTKCSICRQCPIKGFRYRSLKQFNVDICQTCFLTGRASKGNKLHYPIMEYYTPT
TSSENMRDFATTLKNKFRSKHYFSKHPQRGYLPVQSVLEADYSETPASSPMWPHADTHSR
IEHFASRLAEMESQNCSFFNDSLSPDDSIDEDQYLLRHSSPITDREPAFGQQAPCSVATE
SKGELQKILAHLEDENRILQGELRRLKWQHEEAAEAPSLADGSTEAATDHRNEELLAEAR
ILRQHKSRLETRMQILEDHNKQLESQLQRLRELLLQPPTESDGSGSAGSSLASSPQQSEG
SHPREKGQTTPDTEAADDVGSKSQDVSLCLEDIMEKLRHAFPSVRSSDVTANTLLAS

Sequence length

957

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease	Pathogenic	rs759517614	RCV005860267	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type X	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease X-linked dominant 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRP2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor and sensory neuropathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED HEREDITARY MOTOR AND SENSORY NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	31182966	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot Marie Tooth Disease	Associate	26227883	★★★★★ ★☆☆☆☆ Found in Text Mining only

DRP2 (dystrophin related protein 2)