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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79659
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein cytoplasmic 2 heavy chain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DYNC2H1
Synonyms (NCBI Gene) Gene synonyms aliases	ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectru

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137853025	A>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs137853026	A>G	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs137853027	A>G	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs137853028	T>C	Pathogenic	Coding sequence variant, missense variant
rs137853029	G>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs137853030	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853031	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs137853032	C>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs137853033	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853034	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs137853035	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs138290301	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs142881106	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142920070	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs150887098	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs181011657	C>T	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs184256941	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs185613200	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs187451323	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs189100009	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs189533535	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs189806840	C>A	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs192003811	T>C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200170585	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs200190291	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs200342335	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs200466720	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200614421	G>A,T	Uncertain-significance, pathogenic, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs200710887	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs201479015	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs201563576	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201829296	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201967064	A>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202071528	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs368631447	C>T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs368654019	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs368802969	A>G	Benign, pathogenic	Intron variant
rs369658526	C>G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs370627443	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs371011047	G>T	Pathogenic	Stop gained, coding sequence variant
rs371214841	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs371259464	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371932985	A>C,G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs371940321	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs372878677	G>A,T	Likely-pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant
rs372964069	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373335226	T>G	Pathogenic	Stop gained, coding sequence variant
rs373521030	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs373924400	C>G,T	Pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs373977008	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs376067770	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs376892534	G>A	Likely-pathogenic	Intron variant
rs397514635	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs397514636	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs397514637	C>T	Pathogenic	Missense variant, coding sequence variant
rs431905498	GT>AA	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs431905499	G>T	Pathogenic	Splice donor variant
rs431905500	T>-,TT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs431905507	A>-,AA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs537704873	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs548328948	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs552436294	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs555339053	A>C,T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs561778796	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs562139820	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs727503908	G>A,T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs745870321	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs746195428	G>A,C	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs747348765	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs747857715	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs748906528	TTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs751030969	C>T	Pathogenic	Coding sequence variant, missense variant
rs751891969	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs753662982	A>G	Pathogenic	Coding sequence variant, missense variant
rs754919042	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs755305630	C>G	Pathogenic	Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs755338872	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs755441612	C>T	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs755505546	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs755883373	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs756556129	T>A	Pathogenic	Missense variant, coding sequence variant
rs756811136	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs758155107	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs758727391	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs759549373	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs759649136	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs760635983	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs761765709	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs762588952	T>G	Pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs762666243	T>C	Pathogenic	Splice donor variant
rs762873763	A>G	Pathogenic	Splice acceptor variant
rs764769351	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs764926983	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs765454943	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs766672853	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs766816050	GATA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs767206815	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs767846762	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs769053227	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs770380730	G>A	Pathogenic	Coding sequence variant, missense variant
rs770800903	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs771003300	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs771487311	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs771511132	T>A	Pathogenic	Coding sequence variant, missense variant
rs773897318	TTCTTA>-	Pathogenic	Coding sequence variant, inframe deletion
rs774610143	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs775426647	T>A	Pathogenic	Coding sequence variant, missense variant
rs775505863	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs775971666	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs776315442	C>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs776407305	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs777396565	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs780539887	T>-	Pathogenic	Splice donor variant
rs780600124	G>A	Pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs780855765	G>A	Pathogenic	Missense variant, coding sequence variant
rs781326398	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs794727595	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727767	T>C,G	Pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs794727944	G>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs864622111	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs864622357	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs864622358	G>A	Pathogenic	Splice donor variant
rs878852996	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs878854166	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs886039812	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs896105030	G>T	Pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs901629870	C>G	Pathogenic	Coding sequence variant, missense variant
rs943680446	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs963717773	C>T	Pathogenic	Missense variant, coding sequence variant
rs964711006	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs969015057	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1043384862	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518898	G>A,C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1064796228	TAGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131690803	G>A	Pathogenic	Missense variant, coding sequence variant
rs1160036887	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1178331074	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs1196317554	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1202784860	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1214801816	C>G,T	Pathogenic	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs1218198013	AAAAG>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1223907858	TTAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1243999036	C>T	Pathogenic	Coding sequence variant, missense variant
rs1260978141	C>T	Pathogenic	Stop gained, coding sequence variant
rs1261505725	T>G	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1309577378	G>A	Pathogenic	Stop gained, coding sequence variant
rs1322884865	C>T	Pathogenic	Coding sequence variant, missense variant
rs1332318318	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1350329646	C>A,T	Pathogenic	Synonymous variant, 3 prime UTR variant, coding sequence variant, missense variant
rs1380132788	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1384888093	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1386343205	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1453448143	AGAC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1461272672	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555038664	TGGAAAGCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555041449	T>A	Pathogenic	Coding sequence variant, missense variant
rs1555042801	->T	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1555043520	T>G	Pathogenic	Coding sequence variant, missense variant
rs1555049536	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555051720	->GTCACAACA	Pathogenic, likely-pathogenic	Coding sequence variant, inframe insertion
rs1555051794	G>A	Likely-pathogenic	Splice donor variant
rs1555052497	G>C	Likely-pathogenic	Splice acceptor variant
rs1555052511	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555052524	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555053115	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555054771	T>A	Pathogenic	Coding sequence variant, missense variant
rs1555056464	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555057503	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555057838	G>C	Pathogenic	Coding sequence variant, missense variant
rs1555057881	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555060411	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555060940	A>G	Pathogenic	Splice acceptor variant
rs1555061205	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555061228	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555062340	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555062849	C>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1555063811	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1555064376	T>C	Pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs1555066796	TTACCTCCA>-	Pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs1555068270	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555068636	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555070451	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555071484	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555071503	GT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555076918	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555077194	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555081345	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555082470	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555095233	G>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555096711	T>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555098222	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555143920	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1565310938	->TTTATAACTTGGACAGTCTATCCTTACTA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1565311145	T>A	Pathogenic	Coding sequence variant, stop gained
rs1565317399	C>T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs1565329461	G>A	Pathogenic	Splice donor variant
rs1565371538	G>A	Likely-pathogenic	Splice donor variant
rs1565390180	CC>AT	Pathogenic	Coding sequence variant, inframe indel, stop gained, genic downstream transcript variant
rs1565394086	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1565408472	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1565423740	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, genic downstream transcript variant
rs1565438488	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

Show/Hide all(23)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020503	hsa-miR-155-5p	Proteomics	18668040
MIRT022185	hsa-miR-124-3p	Microarray	18668037
MIRT052554	hsa-let-7a-5p	CLASH	23622248
MIRT045954	hsa-miR-125b-5p	CLASH	23622248
MIRT043435	hsa-miR-331-3p	CLASH	23622248
MIRT949083	hsa-miR-186	CLIP-seq
MIRT949084	hsa-miR-204	CLIP-seq
MIRT949085	hsa-miR-211	CLIP-seq
MIRT949086	hsa-miR-3133	CLIP-seq
MIRT949087	hsa-miR-320a	CLIP-seq
MIRT949088	hsa-miR-320b	CLIP-seq
MIRT949089	hsa-miR-320c	CLIP-seq
MIRT949090	hsa-miR-320d	CLIP-seq
MIRT949091	hsa-miR-4429	CLIP-seq
MIRT949092	hsa-miR-4755-5p	CLIP-seq
MIRT949093	hsa-miR-623	CLIP-seq
MIRT949094	hsa-miR-3065-5p	CLIP-seq
MIRT949095	hsa-miR-3913-3p	CLIP-seq
MIRT949096	hsa-miR-4276	CLIP-seq
MIRT949097	hsa-miR-4477a	CLIP-seq
MIRT949098	hsa-miR-4803	CLIP-seq
MIRT949099	hsa-miR-489	CLIP-seq
MIRT2387178	hsa-miR-3140-3p	CLIP-seq

Show/Hide all(53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001822	Process	Kidney development	IEA
GO:0003774	Function	Cytoskeletal motor activity	NAS	8666668
GO:0005515	Function	Protein binding	IPI	29742051
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	8666668
GO:0005856	Component	Cytoskeleton	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IBA
GO:0005868	Component	Cytoplasmic dynein complex	IDA	21723285, 25830415
GO:0005868	Component	Cytoplasmic dynein complex	IEA
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007030	Process	Golgi organization	IDA	8666668
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IDA	21723285
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0060976	Process	Coronary vasculature development	IEA
GO:0061512	Process	Protein localization to cilium	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097542	Component	Ciliary tip	TAS
GO:0097729	Component	9+2 motile cilium	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
603297	2962	ENSG00000187240

Protein

UniProt ID

Q8NCM8

Protein name

Cytoplasmic dynein 2 heavy chain 1 (Cytoplasmic dynein 2 heavy chain) (Dynein cytoplasmic heavy chain 2) (Dynein heavy chain 11) (hDHC11) (Dynein heavy chain isotype 1B)

Protein function

May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).

PDB

4RH7 , 8RGG , 8RGH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08385	DHC_N1	161 → 674	Dynein heavy chain, N-terminal region 1	Family
PF08393	DHC_N2	1117 → 1518	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1651 → 1986	Hydrolytic ATP binding site of dynein motor region	Domain
PF12775	AAA_7	2261 → 2433		Domain
PF12780	AAA_8	2625 → 2882	P-loop containing dynein motor region D4	Domain
PF12777	MT	2895 → 3231	Microtubule-binding stalk of dynein motor	Domain
PF12781	AAA_9	3251 → 3471	ATP-binding dynein motor region	Domain
PF03028	Dynein_heavy	3719 → 3829	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	3843 → 4002	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	4005 → 4304	Dynein heavy chain C-terminal domain	Domain

Sequence

MANGTADVRKLFIFTTTQNYFGLMSELWDQPLLCNCLEINNFLDDGNQMLLRVQRSDAGI
SFSNTIEFGDTKDKVLVFFKLRPEVITDENLHDNILVSSMLESPISSLYQAVRQVFAPML
LKDQEWSRNFDPKLQNLLSELEAGLGIVLRRSDTNLTKLKFKEDDTRGILTPSDEFQFWI
EQAHRGNKQISKERANYFKELFETIAREFYNLDSLSLLEVVDLVETTQDVVDDVWRQTEH
DHYPESRMLHLLDIIGGSFGRFVQKKLGTLNLWEDPYYLVKESLKAGISICEQWVIVCNH
LTGQVWQRYVPHPWKNEKYFPETLDKLGKRLEEVLAIRTIHEKFLYFLPASEEKIICLTR
VFEPFTGLNPVQYNPYTEPLWKAAVSQYEKIIAPAEQKIAGKLKNYISEIQDSPQQLLQA
FLKYKELVKRPTISKELMLERETLLARLVDSIKDFRLDFENRCRGIPGDASGPLSGKNLS
EVVNSIVWVRQLELKVDDTIKIAEALLSDLPGFRCFHQSAKDLLDQLKLYEQEQFDDWSR
DIQSGLSDSRSGLCIEASSRIMELDSNDGLLKVHYSDRLVILLREVRQLSALGFVIPAKI
QQVANIAQKFCKQAIILKQVAHFYNSIDQQMIQSQRPMMLQSALAFEQIIKNSKAGSGGK
SQITWDNPKELEGYIQKLQNAAERLATENRKLRKWHTTFCEKVVVLMNIDLLRQQQRWKD
GLQELRTGLATVEAQGFQASDMHAWKQHWNHQLYKALEHQYQMGLEALNENLPEINIDLT
YKQGRLQFRPPFEEIRAKYYREMKRFIGIPNQFKGVGEAGDESIFSIMIDRNASGFLTIF
SKAEDLFRRLSAVLHQHKEWIVIGQVDMEALVEKHLFTVHDWEKNFKALKIKGKEVERLP
SAVKVDCLNINCNPVKTVIDDLIQKLFDLLVLSLKKSIQAHLHEIDTFVTEAMEVLTIMP
QSVEEIGDANLQYSKLQERKPEILPLFQEAEDKNRLLRTVAGGGLETISNLKAKWDKFEL
MMESHQLMIKDQIEVMKGNVKSRLQIYYQELEKFKARWDQLKPGDDVIETGQHNTLDKSA
KLIKEKKIEFDDLEVTRKKLVDDCHHFRLEEPNFSLASSISKDIESCAQIWAFYEEFQQG
FQEMANEDWITFRTKTYLFEEFLMNWHDRLRKVEEHSVMTVKLQSEVDKYKIVIPILKYV
RGEHLSPDHWLDLFRLLGLPRGTSLEKLLFGDLLRVADTIVAKAADLKDLNSRAQGEVTI
REALRELDLWGVGAVFTLIDYEDSQSRTMKLIKDWKDIVNQVGDNRCLLQSLKDSPYYKG
FEDKVSIWERKLAELDEYLQNLNHIQRKWVYLEPIFGRGALPKEQTRFNRVDEDFRSIMT
DIKKDNRVTTLTTHAGIRNSLLTILDQLQRCQKSLNEFLEEKRSAFPRFYFIGDDDLLEI
LGQSTNPSVIQSHLKKLFAGINSVCFDEKSKHITAMKSLEGEVVPFKNKVPLSNNVETWL
NDLALEMKKTLEQLLKECVTTGRSSQGAVDPSLFPSQILCLAEQIKFTEDVENAIKDHSL
HQIETQLVNKLEQYTNIDTSSEDPGNTESGILELKLKALILDIIHNIDVVKQLNQIQVHT
TEDWAWKKQLRFYMKSDHTCCVQMVDSEFQYTYEYQGNASKLVYTPLTDKCYLTLTQAMK
MGLGGNPYGPAGTGKTESVKALGGLLGRQVLVFNCDEGIDVKSMGRIFVGLVKCGAWGCF
DEFNRLEESVLSAVSMQIQTIQDALKNHRTVCELLGKEVEVNSNSGIFITMNPAGKGYGG
RQKLPDNLKQLFRPVAMSHPDNELIAEVILYSEGFKDAKVLSRKLVAIFNLSRELLTPQQ
HYDWGLRALKTVLRGSGNLLRQLNKSGTTQNANESHIVVQALRLNTMSKFTFTDCTRFDA
LIKDVFPGIELKEVEYDELSAALKQVFEEANYEIIPNQIKKALELYEQLCQRMGVVIVGP
SGAGKSTLWRMLRAALCKTGKVVKQYTMNPKAMPRYQLLGHIDMDTREWSDGVLTNSARQ
VVREPQDVSSWIICDGDIDPEWIESLNSVLDDNRLLTMPSGERIQFGPNVNFVFETHDLS
CASPATISRMGMIFLSDEETDLNSLIKSWLRNQPAEYRNNLENWIGDYFEKALQWVLKQN
DYVVETSLVGTVMNGLSHLHGCRDHDEFIINLIRGLGGNLNMKSRLEFTKEVFHWARESP
PDFHKPMDTYYDSTRGRLATYVLKKPEDLTADDFSNGLTLPVIQTPDMQRGLDYFKPWLS
SDTKQPFILVGPEGCGKGMLLRYAFSQLRSTQIATVHCSAQTTSRHLLQKLSQTCMVIST
NTGRVYRPKDCERLVLYLKDINLPKLDKWGTSTLVAFLQQVLTYQGFYDENLEWVGLENI
QIVASMSAGGRLGRHKLTTRFTSIVRLCSIDYPEREQLQTIYGAYLEPVLHKNLKNHSIW
GSSSKIYLLAGSMVQVYEQVRAKFTVDDYSHYFFTPCILTQWVLGLFRYDLEGGSSNHPL
DYVLEIVAYEARRLFRDKIVGAKELHLFDIILTSVFQGDWGSDILDNMSDSFYVTWGARH
NSGARAAPGQPLPPHGKPLGKLNSTDLKDVIKKGLIHYGRDNQNLDILLFHEVLEYMSRI
DRVLSFPGGSLLLAGRSGVGRRTITSLVSHMHGAVLFSPKISRGYELKQFKNDLKHVLQL
AGIEAQQVVLLLEDYQFVHPTFLEMINSLLSSGEVPGLYTLEELEPLLLPLKDQASQDGF
FGPVFNYFTYRIQQNLHIVLIMDSANSNFMINCESNPALHKKCQVLWMEGWSNSSMKKIP
EMLFSETGGGEKYNDKKRKEEKKKNSVDPDFLKSFLLIHESCKAYGATPSRYMTFLHVYS
AISSSKKKELLKRQSHLQAGVSKLNEAKALVDELNRKAGEQSVLLKTKQDEADAALQMIT
VSMQDASEQKTELERLKHRIAEEVVKIEERKNKIDDELKEVQPLVNEAKLAVGNIKPESL
SEIRSLRMPPDVIRDILEGVLRLMGIFDTSWVSMKSFLAKRGVREDIATFDARNISKEIR
ESVEELLFKNKGSFDPKNAKRASTAAAPLAAWVKANIQYSHVLERIHPLETEQAGLESNL
KKTEDRKRKLEELLNSVGQKVSELKEKFQSRTSEAAKLEAEVSKAQETIKAAEVLINQLD
REHKRWNAQVVEITEELATLPKRAQLAAAFITYLSAAPESLRKTCLEEWTKSAGLEKFDL
RRFLCTESEQLIWKSEGLPSDDLSIENALVILQSRVCPFLIDPSSQATEWLKTHLKDSRL
EVINQQDSNFITALELAVRFGKTLIIQEMDGVEPVLYPLLRRDLVAQGPRYVVQIGDKII
DYNEEFRLFLSTRNPNPFIPPDAASIVTEVNFTTTRSGLRGQLLALTIQHEKPDLEEQKT
KLLQQEEDKKIQLAKLEESLLETLATSQGNILENKDLIESLNQTKASSALIQESLKESYK
LQISLDQERDAYLPLAESASKMYFIISDLSKINNMYRFSLAAFLRLFQRALQNKQDSENT
EQRIQSLISSLQHMVYEYICRCLFKADQLMFALHFVRGMHPELFQENEWDTFTGVVVGDM
LRKADSQQKIRDQLPSWIDQERSWAVATLKIALPSLYQTLCFEDAALWRTYYNNSMCEQE
FPSILAKKVSLFQQILVVQALRPDRLQSAMALFACKTLGLKEVSPLPLNLKRLYKETLEI
EPILIIISPGADPSQELQELANAERSGECYHQVAMGQGQADLAIQMLKECARNGDWLCLK
NLHLVVSWLPVLEKELNTLQPKDTFRLWLTAEVHPNFTPILLQSSLKITYESPPGLKKNL
MRTYESWTPEQISKKDNTHRAHALFSLAWFHAACQERRNYIPQGWTKFYEFSLSDLRAGY
NIIDRLFDGAKDVQWEFVHGLLENAIYGGRIDNYFDLRVLQSYLKQFFNSSVIDVFNQRN
KKSIFPYSVSLPQSCSILDYRAVIEKIPEDDKPSFFGLPANIARSSQRMISSQVISQLRI
LGRSITAGSKFDREIWSNELSPVLNLWKKLNQNSNLIHQKVPPPNDRQGSPILSFIILEQ
FNAIRLVQSVHQSLAALSKVIRGTTLLSSEVQKLASALLNQKCPLAWQSKWEGPEDPLQY
LRGLVARALAIQNWVDKAEKQALLSETLDLSELFHPDTFLNALRQETARAVGRSVDSLKF
VASWKGRLQEAKLQIKISGLLLEGCSFDGNQLSENQLDSPSVSSVLPCFMGWIPQDACGP
YSPDECISLPVYTSAERDRVVTNIDVPCGGNQDQWIQCGAALFLKNQ

Sequence length

4307

Interactions

View interactions

	KEGG		Reactome
	Phagosome Motor proteins Vasopressin-regulated water reabsorption Salmonella infection		Hedgehog 'off' state Intraflagellar transport

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Asphyxiating Thoracic Dystrophy	Asphyxiating thoracic dystrophy 3	rs767206815, rs756811136, rs431905507, rs1555068270, rs1555052524, rs1555063811, rs1555077194, rs137853032, rs200614421, rs1565359085, rs371932985, rs368631447, rs561778796, rs137853025, rs764769351 View all (85 more)	N/A
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	rs943680446, rs561778796, rs762873763, rs1565317399, rs200460601, rs753662982, rs181011657, rs1555043520, rs368654019, rs431905507, rs1555068636, rs1555052524, rs1555063811, rs1218198013, rs137853032 View all (85 more)	N/A
retinal dystrophy	Retinal dystrophy	rs200460601	N/A
Short Rib-Polydactyly Syndrome	short rib-polydactyly syndrome	rs767206815	N/A
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	Short-rib thoracic dysplasia 6 with or without polydactyly	rs771487311, rs1261505725	N/A
Polycystic kidney disease	autosomal recessive polycystic kidney disease	rs1261505725	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Gout	Gout	N/A	N/A	GWAS
Hirschsprung Disease	Hirschsprung disease, susceptibility to, 1	N/A	N/A	ClinVar
Hypertension	Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Jeune Syndrome	Jeune syndrome	N/A	N/A	GenCC
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Neonatal Respiratory Distress	Neonatal respiratory distress	N/A	N/A	ClinVar
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abortion Habitual	Associate	26826164
Ataxia Telangiectasia	Associate	35893076
Atherosclerosis	Associate	31043156
Carcinoma Ductal	Associate	33369054
Ciliary Motility Disorders	Associate	19361615
Ciliopathies	Associate	21211617, 33369054, 33875766, 35764379, 35893076, 36442996, 36599940, 38062428
Congenital Hypothyroidism	Associate	31943948
Dextrocardia	Associate	35277174
Disorders of Sex Development	Associate	37413951
Ellis Van Creveld Syndrome	Associate	36599940
Fetal Diseases	Associate	26826164, 29458881, 37875969
Gracile bone dysplasia	Associate	35893076
Hamartoma	Associate	35137044
Heart Defects Congenital	Associate	37165897
Heart defects limb shortening	Associate	35277174
HEM dysplasia	Associate	32752906, 33369054, 35893076, 37100787
Hypersensitivity Immediate	Associate	27925158
Hypothalamic hamartomas	Associate	35137044
Immune dysfunction with T cell inactivation due to calcium entry defect 2	Associate	38062428
Jeune syndrome	Associate	19442771, 23456818, 27925158, 31935347, 32753734, 35893076, 36599940
Kidney Failure Chronic	Associate	40770708
Leber Congenital Amaurosis	Associate	32753734
Liver Diseases	Associate	33369054
Lung Diseases	Associate	35277174
Lung Hyperlucent	Associate	31935347, 35277174
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	38062428
Polydactyly	Associate	35277174
Polydactyly Postaxial	Associate	36442996
Renal Insufficiency Chronic	Associate	40770708
Retinal Degeneration	Associate	32753734
Retinal Diseases	Associate	32753734
Sexual Dysfunction Physiological	Associate	35893076
Short Rib Polydactyly Syndrome	Associate	19361615, 24961629, 27925158, 29458881, 31943948, 36442996, 36599940, 37100787, 38062428
Short rib polydactyly syndrome Verma Naumoff type	Associate	19442771, 24183449, 29458881, 31415973, 35277174, 36442996, 37100787
Situs Inversus	Associate	35277174
Spinal Arterial Venous Malformations with Cutaneous Hemangiomas	Associate	31943948
Spinal Curvatures	Associate	35277174
Syndactyly	Associate	35277174
Thoracic Diseases	Associate	36442996

DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)