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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1785
Gene name	Dynamin 2
Gene symbol	DNM2
Synonyms (NCBI Gene)	CMT2MCMTDI1CMTDIBDI-CMTBDYN2DYNIILCCS5
Chromosome	19
Chromosome location	19p13.2
Summary	Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have be

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121909088	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909089	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909090	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909091	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909092	G>A	Pathogenic	Coding sequence variant, missense variant
rs121909093	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909094	T>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909095	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs144250390	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148900299	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs199927590	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs200191870	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs201972896	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201979143	C>G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs202155679	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606772	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs368075301	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373161548	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs375151459	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514735	T>G	Pathogenic	Coding sequence variant, missense variant
rs587783594	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587783595	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587783596	A>C,G	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs587783597	T>C	Pathogenic	Coding sequence variant, missense variant
rs587783598	C>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs746903992	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs773598203	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs864309705	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs879254086	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039704	C>G	Pathogenic	Missense variant, coding sequence variant
rs1064793101	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555715869	C>A	Likely-pathogenic	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002670	hsa-miR-124-3p	Microarray	15685193
MIRT007139	hsa-miR-130a-3p	qRT-PCR	23418453
MIRT002670	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT002670	hsa-miR-124-3p	Microarray	15685193
MIRT049062	hsa-miR-92a-3p	CLASH	23622248
MIRT040188	hsa-miR-615-3p	CLASH	23622248
MIRT458926	hsa-miR-3125	PAR-CLIP	20371350
MIRT458925	hsa-miR-3916	PAR-CLIP	20371350
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT458917	hsa-miR-4459	PAR-CLIP	20371350
MIRT458916	hsa-miR-665	PAR-CLIP	20371350
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT458912	hsa-miR-4784	PAR-CLIP	20371350
MIRT458910	hsa-miR-765	PAR-CLIP	20371350
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT458926	hsa-miR-3125	PAR-CLIP	20371350
MIRT458925	hsa-miR-3916	PAR-CLIP	20371350
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT458917	hsa-miR-4459	PAR-CLIP	20371350
MIRT458916	hsa-miR-665	PAR-CLIP	20371350
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT458912	hsa-miR-4784	PAR-CLIP	20371350
MIRT458910	hsa-miR-765	PAR-CLIP	20371350
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458911	hsa-miR-711	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458923	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT458922	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT458921	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT458920	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT458919	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT458918	hsa-miR-4761-3p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458913	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT458911	hsa-miR-711	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458909	hsa-miR-6809-5p	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	20371350
MIRT458925	hsa-miR-3916	PAR-CLIP	20371350
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT458917	hsa-miR-4459	PAR-CLIP	20371350
MIRT458916	hsa-miR-665	PAR-CLIP	20371350
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT458912	hsa-miR-4784	PAR-CLIP	20371350
MIRT458910	hsa-miR-765	PAR-CLIP	20371350
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT458926	hsa-miR-3125	PAR-CLIP	20371350
MIRT458925	hsa-miR-3916	PAR-CLIP	20371350
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT458917	hsa-miR-4459	PAR-CLIP	20371350
MIRT458916	hsa-miR-665	PAR-CLIP	20371350
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT458912	hsa-miR-4784	PAR-CLIP	20371350
MIRT458910	hsa-miR-765	PAR-CLIP	20371350
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458911	hsa-miR-711	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458923	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT458922	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT458921	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT458920	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT458919	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT458918	hsa-miR-4761-3p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458913	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT458911	hsa-miR-711	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458909	hsa-miR-6809-5p	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT942346	hsa-miR-1207-3p	CLIP-seq
MIRT942347	hsa-miR-1285	CLIP-seq
MIRT942348	hsa-miR-3187-5p	CLIP-seq
MIRT942349	hsa-miR-4316	CLIP-seq
MIRT942350	hsa-miR-4523	CLIP-seq
MIRT942351	hsa-miR-4740-3p	CLIP-seq
MIRT942352	hsa-miR-612	CLIP-seq
MIRT942353	hsa-miR-106a	CLIP-seq
MIRT942354	hsa-miR-106b	CLIP-seq
MIRT942355	hsa-miR-125a-5p	CLIP-seq
MIRT942356	hsa-miR-125b	CLIP-seq
MIRT942357	hsa-miR-17	CLIP-seq
MIRT942358	hsa-miR-20a	CLIP-seq
MIRT942359	hsa-miR-20b	CLIP-seq
MIRT942360	hsa-miR-361-3p	CLIP-seq
MIRT942361	hsa-miR-3672	CLIP-seq
MIRT942362	hsa-miR-4319	CLIP-seq
MIRT942363	hsa-miR-4324	CLIP-seq
MIRT942364	hsa-miR-4329	CLIP-seq
MIRT942365	hsa-miR-519d	CLIP-seq
MIRT942366	hsa-miR-520g	CLIP-seq
MIRT942367	hsa-miR-520h	CLIP-seq
MIRT942368	hsa-miR-93	CLIP-seq
MIRT942369	hsa-miR-1202	CLIP-seq
MIRT942346	hsa-miR-1207-3p	CLIP-seq
MIRT942370	hsa-miR-1226	CLIP-seq
MIRT942371	hsa-miR-1262	CLIP-seq
MIRT942347	hsa-miR-1285	CLIP-seq
MIRT942372	hsa-miR-1294	CLIP-seq
MIRT942373	hsa-miR-151-5p	CLIP-seq
MIRT942374	hsa-miR-151b	CLIP-seq
MIRT942375	hsa-miR-1972	CLIP-seq
MIRT942376	hsa-miR-204	CLIP-seq
MIRT942377	hsa-miR-211	CLIP-seq
MIRT942348	hsa-miR-3187-5p	CLIP-seq
MIRT942378	hsa-miR-3194-5p	CLIP-seq
MIRT942379	hsa-miR-3545-5p	CLIP-seq
MIRT942380	hsa-miR-3919	CLIP-seq
MIRT942381	hsa-miR-3972	CLIP-seq
MIRT942382	hsa-miR-4279	CLIP-seq
MIRT942383	hsa-miR-4481	CLIP-seq
MIRT942350	hsa-miR-4523	CLIP-seq
MIRT942384	hsa-miR-4530	CLIP-seq
MIRT942385	hsa-miR-4533	CLIP-seq
MIRT942386	hsa-miR-4632	CLIP-seq
MIRT942387	hsa-miR-4650-5p	CLIP-seq
MIRT942388	hsa-miR-4701-3p	CLIP-seq
MIRT942389	hsa-miR-4710	CLIP-seq
MIRT942390	hsa-miR-4722-3p	CLIP-seq
MIRT942391	hsa-miR-4743	CLIP-seq
MIRT942392	hsa-miR-4745-5p	CLIP-seq
MIRT942393	hsa-miR-4747-5p	CLIP-seq
MIRT942394	hsa-miR-4755-5p	CLIP-seq
MIRT942395	hsa-miR-4756-3p	CLIP-seq
MIRT942396	hsa-miR-4759	CLIP-seq
MIRT942397	hsa-miR-4763-5p	CLIP-seq
MIRT942398	hsa-miR-503	CLIP-seq
MIRT942399	hsa-miR-582-5p	CLIP-seq
MIRT942400	hsa-miR-600	CLIP-seq
MIRT942352	hsa-miR-612	CLIP-seq
MIRT942401	hsa-miR-623	CLIP-seq
MIRT942402	hsa-miR-634	CLIP-seq
MIRT1978989	hsa-miR-124	CLIP-seq
MIRT942371	hsa-miR-1262	CLIP-seq
MIRT1978990	hsa-miR-1273g	CLIP-seq
MIRT1978991	hsa-miR-127-5p	CLIP-seq
MIRT1978992	hsa-miR-1291	CLIP-seq
MIRT942372	hsa-miR-1294	CLIP-seq
MIRT1978993	hsa-miR-147	CLIP-seq
MIRT942373	hsa-miR-151-5p	CLIP-seq
MIRT942374	hsa-miR-151b	CLIP-seq
MIRT1978994	hsa-miR-24	CLIP-seq
MIRT1978995	hsa-miR-296-5p	CLIP-seq
MIRT1978996	hsa-miR-3155	CLIP-seq
MIRT1978997	hsa-miR-3155b	CLIP-seq
MIRT942379	hsa-miR-3545-5p	CLIP-seq
MIRT1978998	hsa-miR-3911	CLIP-seq
MIRT942380	hsa-miR-3919	CLIP-seq
MIRT1978999	hsa-miR-3922-5p	CLIP-seq
MIRT1979000	hsa-miR-4258	CLIP-seq
MIRT1979001	hsa-miR-4269	CLIP-seq
MIRT942382	hsa-miR-4279	CLIP-seq
MIRT1979002	hsa-miR-4292	CLIP-seq
MIRT1979003	hsa-miR-4300	CLIP-seq
MIRT942383	hsa-miR-4481	CLIP-seq
MIRT1979004	hsa-miR-4505	CLIP-seq
MIRT942386	hsa-miR-4632	CLIP-seq
MIRT1979005	hsa-miR-4640-5p	CLIP-seq
MIRT1979006	hsa-miR-4645-5p	CLIP-seq
MIRT1979007	hsa-miR-4673	CLIP-seq
MIRT942388	hsa-miR-4701-3p	CLIP-seq
MIRT942389	hsa-miR-4710	CLIP-seq
MIRT1979008	hsa-miR-4726-5p	CLIP-seq
MIRT942392	hsa-miR-4745-5p	CLIP-seq
MIRT1979009	hsa-miR-4755-3p	CLIP-seq
MIRT942395	hsa-miR-4756-3p	CLIP-seq
MIRT1979010	hsa-miR-484	CLIP-seq
MIRT1979011	hsa-miR-485-5p	CLIP-seq
MIRT1979012	hsa-miR-506	CLIP-seq
MIRT1979013	hsa-miR-548an	CLIP-seq
MIRT1979014	hsa-miR-548p	CLIP-seq
MIRT942399	hsa-miR-582-5p	CLIP-seq
MIRT942400	hsa-miR-600	CLIP-seq
MIRT1979015	hsa-miR-644	CLIP-seq
MIRT1979016	hsa-miR-889	CLIP-seq
MIRT1979017	hsa-miR-920	CLIP-seq
MIRT942370	hsa-miR-1226	CLIP-seq
MIRT2214147	hsa-miR-1275	CLIP-seq
MIRT2214148	hsa-miR-1538	CLIP-seq
MIRT942376	hsa-miR-204	CLIP-seq
MIRT942377	hsa-miR-211	CLIP-seq
MIRT2214149	hsa-miR-3144-5p	CLIP-seq
MIRT2214150	hsa-miR-337-5p	CLIP-seq
MIRT2214151	hsa-miR-3620	CLIP-seq
MIRT1978999	hsa-miR-3922-5p	CLIP-seq
MIRT1979001	hsa-miR-4269	CLIP-seq
MIRT1979002	hsa-miR-4292	CLIP-seq
MIRT2214152	hsa-miR-4525	CLIP-seq
MIRT942384	hsa-miR-4530	CLIP-seq
MIRT1979005	hsa-miR-4640-5p	CLIP-seq
MIRT2214153	hsa-miR-4665-5p	CLIP-seq
MIRT2214154	hsa-miR-4667-5p	CLIP-seq
MIRT2214155	hsa-miR-4691-3p	CLIP-seq
MIRT2214156	hsa-miR-4700-5p	CLIP-seq
MIRT2214157	hsa-miR-4723-5p	CLIP-seq
MIRT1979008	hsa-miR-4726-5p	CLIP-seq
MIRT2214158	hsa-miR-4745-3p	CLIP-seq
MIRT942393	hsa-miR-4747-5p	CLIP-seq
MIRT1979009	hsa-miR-4755-3p	CLIP-seq
MIRT942394	hsa-miR-4755-5p	CLIP-seq
MIRT942398	hsa-miR-503	CLIP-seq
MIRT942401	hsa-miR-623	CLIP-seq
MIRT2214159	hsa-miR-625	CLIP-seq
MIRT942402	hsa-miR-634	CLIP-seq
MIRT2214160	hsa-miR-637	CLIP-seq
MIRT942371	hsa-miR-1262	CLIP-seq
MIRT942372	hsa-miR-1294	CLIP-seq
MIRT2387041	hsa-miR-1321	CLIP-seq
MIRT942373	hsa-miR-151-5p	CLIP-seq
MIRT942374	hsa-miR-151b	CLIP-seq
MIRT1978995	hsa-miR-296-5p	CLIP-seq
MIRT942379	hsa-miR-3545-5p	CLIP-seq
MIRT2387042	hsa-miR-3612	CLIP-seq
MIRT2387043	hsa-miR-3622b-5p	CLIP-seq
MIRT942380	hsa-miR-3919	CLIP-seq
MIRT2387044	hsa-miR-4270	CLIP-seq
MIRT1979002	hsa-miR-4292	CLIP-seq
MIRT2387045	hsa-miR-4441	CLIP-seq
MIRT942383	hsa-miR-4481	CLIP-seq
MIRT942386	hsa-miR-4632	CLIP-seq
MIRT942388	hsa-miR-4701-3p	CLIP-seq
MIRT942389	hsa-miR-4710	CLIP-seq
MIRT2387046	hsa-miR-4739	CLIP-seq
MIRT942392	hsa-miR-4745-5p	CLIP-seq
MIRT942395	hsa-miR-4756-3p	CLIP-seq
MIRT2387047	hsa-miR-4756-5p	CLIP-seq
MIRT942399	hsa-miR-582-5p	CLIP-seq
MIRT942400	hsa-miR-600	CLIP-seq
MIRT2387048	hsa-miR-650	CLIP-seq

Show/Hide all (94)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	NAS	7590285
GO:0000139	Component	Golgi membrane	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0001891	Component	Phagocytic cup	IEA
GO:0001931	Component	Uropod	IDA	18480402
GO:0001931	Component	Uropod	IEA
GO:0002102	Component	Podosome	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	34744632
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	NAS	11583995
GO:0003924	Function	GTPase activity	TAS
GO:0005515	Function	Protein binding	IPI	11583995, 15703209, 16325581, 16551695, 16636290, 16696976, 17257598, 17412836, 17676042, 18353773, 18388313, 18480402, 19380743, 20711168, 21706016, 21900206, 21988832, 22022388, 22623184, 24970086, 27107012, 29437695, 31980649, 32296183, 32315611, 32814053, 33961781, 35271311
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	NAS	7590285
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	34744632
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IDA	15731758
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005813	Component	Centrosome	IDA	16227997
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	15048127
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	18388313
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	15731758, 21525035
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0005905	Component	Clathrin-coated pit	ISS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	10893263
GO:0006892	Process	Post-Golgi vesicle-mediated transport	TAS
GO:0006897	Process	Endocytosis	IDA	33713620
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	NAS	10101292, 11583995
GO:0006898	Process	Receptor-mediated endocytosis	IDA	15731758, 19623537, 36445308
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006909	Process	Phagocytosis	IEA
GO:0006914	Process	Autophagy	IDA	32315611
GO:0006914	Process	Autophagy	IMP	29437695
GO:0007098	Process	Centrosome cycle	ISS
GO:0007165	Process	Signal transduction	NAS	10893263
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	NAS	7590285
GO:0012505	Component	Endomembrane system	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0016185	Process	Synaptic vesicle budding from presynaptic endocytic zone membrane	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017124	Function	SH3 domain binding	IDA	18388313
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0019899	Function	Enzyme binding	NAS	11583995
GO:0030136	Component	Clathrin-coated vesicle	IDA	15731758
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030496	Component	Midbody	IEA
GO:0030516	Process	Regulation of axon extension	ISS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031623	Process	Receptor internalization	IBA
GO:0031623	Process	Receptor internalization	IMP	14985334
GO:0033572	Process	Transferrin transport	IMP	14985334
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043065	Process	Positive regulation of apoptotic process	NAS	10893263
GO:0043149	Process	Stress fiber assembly	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	11583995
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	10893263
GO:0048489	Process	Synaptic vesicle transport	NAS	11583995
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0051258	Process	Protein polymerization	IDA	34744632
GO:0055037	Component	Recycling endosome	IDA	32315611
GO:0055037	Component	Recycling endosome	IEA
GO:0061024	Process	Membrane organization	TAS
GO:0061572	Process	Actin filament bundle organization	IMP	19605363
GO:0061572	Process	Actin filament bundle organization	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0097749	Process	Membrane tubulation	IDA	24135484
GO:0097749	Process	Membrane tubulation	ISS
GO:0098793	Component	Presynapse	IEA
GO:0099050	Process	Vesicle scission	IDA	32315611
GO:1903526	Process	Negative regulation of membrane tubulation	IDA	18388313

MIM	HGNC	e!Ensembl
602378	2974	ENSG00000079805

P50570

Protein name

Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)

Protein function

Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the actin cytoskeleton (PubMed:15731758, PubMed:19

PDB

2YS1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00350	Dynamin_N	34 → 207	Dynamin family	Domain
PF01031	Dynamin_M	216 → 502	Dynamin central region	Family
PF00169	PH	520 → 624	PH domain	Domain
PF02212	GED	648 → 739	Dynamin GTPase effector domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:7590285). Expressed in skeletal muscle and the peripheral nerve (PubMed:19623537). {ECO:0000269|PubMed:19623537, ECO:0000269|PubMed:7590285}.

Sequence

MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRG
SGIVTRRPLILQLIFSKTEHAEFLHCKSKKFTDFDEVRQEIEAETDRVTGTNKGISPVPI
NLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQK
DIEGKKDIRAALAAERKFFLSHPAYRHMADRMGTPHLQKTLNQQLTNHIRESLPALRSKL
QSQLLSLEKEVEEYKNFRPDDPTRKTKALLQMVQQFGVDFEKRIEGSGDQVDTLELSGGA
RINRIFHERFPFELVKMEFDEKDLRREISYAIKNIHGVRTGLFTPDLAFEAIVKKQVVKL
KEPCLKCVDLVIQELINTVRQCTSKLSSYPRLREETERIVTTYIREREGRTKDQILLLID
IEQSYINTNHEDFIGFANAQQRSTQLNKKRAIPNQGEILVIRRGWLTINNISLMKGGSKE
YWFVLTAESLSWYKDEEEKEKKYMLPLDNLKIRDVEKGFMSNKHVFAIFNTEQRNVYKDL
RQIELACDSQEDVDSWKASFLRAGVYPEKDQAENEDGAQENTFSMDPQLERQVETIRNLV
DSYVAIINKSIRDLMPKTIMHLMINNTKAFIHHELLAYLYSSADQSSLMEESADQAQRRD
DMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGR
PPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPP
GIPPGVPSRRPPAAPSRPTIIRPAEPSLLD

Sequence length

870

Interactions

View interactions

	KEGG		Reactome
	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis Synaptic vesicle cycle Endocrine and other factor-regulated calcium reabsorption Bacterial invasion of epithelial cells Salmonella infection		Toll Like Receptor 4 (TLR4) Cascade Gap junction degradation Formation of annular gap junctions NOSTRIN mediated eNOS trafficking MHC class II antigen presentation Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis Recycling pathway of L1 Clathrin-mediated endocytosis

1377

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Pathogenic	rs121909091	RCV001813964
Autosomal dominant centronuclear myopathy	Pathogenic; Likely pathogenic	rs587783595, rs587783597, rs587783598, rs2513348956, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs2513333606, rs773598203, rs1555715869, rs2073098775	RCV000679888 RCV005252767 RCV002286706 RCV002283935 RCV000007702 RCV000007703 RCV000007704 RCV000007705 RCV000754751 RCV003234958 RCV004787830 RCV001729629 RCV001197418
Autosomal dominant Charcot-Marie-Tooth disease type 2M	Likely pathogenic; Pathogenic	rs267606772	RCV000007710
Centronuclear myopathy	Likely pathogenic; Pathogenic	rs587783594, rs587783595, rs587783596, rs587783597, rs587783598, rs2513348956, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs879254086, rs773598203, rs2073098775, rs2072577342	RCV000145901 RCV000145903 RCV005430500 RCV000145909 RCV000145910 RCV005645372 RCV000145900 RCV000145899 RCV000145902 RCV000145898 RCV000145908 RCV005430516 RCV004732482 RCV004732493 RCV005645243
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs199927590, rs121909090, rs1269225724	RCV000144864 RCV001027496 RCV000789090
Charcot-Marie-Tooth disease dominant intermediate B	Likely pathogenic; Pathogenic	rs2146014404, rs587783595, rs587783596, rs587783597, rs587783598, rs2513348956, rs864309705, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909093, rs879254086 View all (7 more)	RCV001379334 RCV000552861 RCV003447117 RCV002515958 RCV003447118 RCV003447331 RCV000203274 RCV000701394 RCV000641108 RCV000641110 RCV000554046 RCV000544279 RCV003447079 RCV000203266 RCV000641104 RCV002518442 RCV002221154 RCV001384482 RCV000534336 RCV000703690 RCV001542797 RCV001227100 RCV001880160
DNM2-related disorder	Pathogenic	rs121909091, rs121909092	RCV004745149 RCV003914819
Fetal akinesia-cerebral and retinal hemorrhage syndrome	Pathogenic	rs121909095	RCV002504764
Limb-girdle muscular dystrophy	Pathogenic	rs121909090	RCV005624680
Moyamoya angiopathy	Likely pathogenic	rs2073249488	RCV004704485
Myopathy	Pathogenic	rs121909092	RCV000626717
See cases	Pathogenic	rs587783595	RCV002252002
Sensorimotor neuropathy	Likely pathogenic; Pathogenic	rs121909093	RCV000415354
Severe X-linked myotubular myopathy	Pathogenic	rs121909095	RCV000007708 RCV000007709

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign; Uncertain significance	rs113192269, rs373215514, rs114623441	RCV005888122 RCV005928351 RCV005898045
Centronuclear Myopathy, Dominant	Benign; Likely benign; Uncertain significance	rs199976453, rs575649173, rs886054146	RCV000294080 RCV000359796 RCV000366564
Cervical cancer	Benign; Likely benign	rs113192269	RCV005888123
Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia	Conflicting classifications of pathogenicity	rs121909088, rs1599620408	RCV000007700 RCV002285173
Charcot-Marie-Tooth, Intermediate	Benign; Likely benign; Uncertain significance	rs199976453, rs575649173, rs886054146	RCV000333450 RCV000268011 RCV000273473
Clear cell carcinoma of kidney	Benign; Likely benign	rs113192269	RCV005888124
Familial cancer of breast	Benign	rs148318860	RCV005889824
Gastric cancer	Uncertain significance	rs747545894	RCV005924005
Glioma susceptibility 1	Uncertain significance	rs1222869455	RCV005908967
Limb-girdle muscle weakness	Uncertain significance	rs1057518858	RCV000415072
Lung cancer	Uncertain significance	rs747545894	RCV005924006
Malignant lymphoma, large B-cell, diffuse	Benign	rs2287029	RCV005891361
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs184310103, rs375577182	RCV005907050 RCV005913592
Malignant tumor of urinary bladder	Uncertain significance; Likely benign	rs2513140051, rs774748942	RCV005928631 RCV005909084
Myofibrillar myopathy	Uncertain significance	rs1057518858	RCV000415072
Ovarian serous cystadenocarcinoma	Uncertain significance	rs2073330199	RCV005909009
Pancreatic adenocarcinoma	Likely benign	rs774256221	RCV005899969
Peripheral neuropathy	Conflicting classifications of pathogenicity; Uncertain significance	rs144250390, rs2146038746	RCV000145912 RCV002227582
Sarcoma	Benign; Likely benign	rs143084059, rs774256221	RCV005891363 RCV005899970
Squamous cell carcinoma of the head and neck	Likely benign	rs1464745378	RCV005901681
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs186762327	RCV005899611
Uterine carcinosarcoma	Benign	rs2287029	RCV005891362
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs113192269, rs148318860	RCV005888125 RCV005889825
Uveal melanoma	Benign	rs2287029	RCV005891360

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholic Neuropathy	Associate	25492887
Breast Neoplasms	Associate	24753582
Bundle Branch Block	Associate	25492887
Carcinoma Hepatocellular	Associate	27813498, 32573516, 34190023
Carcinoma Pancreatic Ductal	Associate	21841817, 31967944
Carcinoma Renal Cell	Associate	35662107
Carcinoma Squamous Cell	Inhibit	20574164
Cardiomyopathies	Associate	25492887
Central Nervous System Infections	Associate	34130600
Charcot Marie Tooth Disease	Associate	19502294, 20817456, 22396310, 25492887, 26517984, 33684277, 35993408
Charcot Marie Tooth Disease Dominant Intermediate B	Associate	19502294, 22396310
Colorectal Neoplasms	Associate	34582006
Contracture	Associate	23394783
Diabetes Insipidus Nephrogenic	Associate	26714855
Diabetes Mellitus Type 2	Associate	32041280
Genetic Diseases Inborn	Associate	33097808, 36142275, 36869887
Gilbert Disease	Associate	33684277
Glaucoma Open Angle	Associate	24603425
Glioma	Associate	34831480
Hypoxia	Inhibit	24706848
Leukemia	Associate	27885263, 28366933
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	28366933
Leukemia Myeloid Acute	Associate	33351131
Leukemia T Cell	Associate	27885263
Lung Diseases	Associate	23394783
Lymphatic Metastasis	Inhibit	20574164
Lymphatic Metastasis	Associate	24402972
Multiple Pterygium Syndrome Autosomal Dominant	Associate	20817456
Muscular Diseases	Associate	20817456, 23975875, 32315611
Muscular Diseases	Stimulate	33646172
Myopathies Structural Congenital	Associate	16227997, 20817456, 20839240, 21482111, 22396310, 23394783, 25492887, 26517984, 32315611, 33097808, 34463354, 36142275, 37364426
Myotonia Congenita	Associate	40159620
Neoplasm Metastasis	Associate	20574164
Neoplasms	Inhibit	20574164
Neoplasms	Associate	21841817, 24402972, 24706848, 31209282, 31967944, 35186244, 35662107
Neurodegenerative Diseases	Associate	34130600
Neurologic Manifestations	Associate	26475677
Neuromuscular Diseases	Associate	32154989
Neuromuscular Junction Diseases	Associate	36869887
Norrie disease	Associate	32041280
Osteosarcoma	Associate	35186244
Ovarian Neoplasms	Associate	24706848
Pain	Associate	29156912
Pancreatic Neoplasms	Associate	21841817, 23537630, 31967944
Peripheral Nervous System Diseases	Associate	22396310
Polyneuropathies	Associate	35993408
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	27885263
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	27885263
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 23603912, 25595890, 37116148
Prostatic Neoplasms	Associate	24402972
Prostatitis	Associate	24402972
Psoriasis	Associate	39684939
Respiratory Insufficiency	Associate	37364426
Signs and Symptoms	Associate	25492887
Spastic paraplegia 10 autosomal dominant	Associate	26517984
Spastic Paraplegia Hereditary	Associate	26517984
Telangiectasia Hereditary Hemorrhagic	Associate	37689549
Thyroid Cancer Papillary	Associate	32827429
Wiskott Aldrich Syndrome	Associate	16965516

DNM2 (dynamin 2)