• Gene id: 79659

Gene Summary

• Gene Symbol: DYNC2H1   Gene   UCSC   Ensembl
• Aliases: ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11
• Gene name: dynein cytoplasmic 2 heavy chain 1
• Alternate names: cytoplasmic dynein 2 heavy chain 1, dynein cytoplasmic heavy chain 2, dynein heavy chain 11, dynein heavy chain, isotype 1B, dynein, cytoplasmic, heavy polypeptide 2,
• Gene location: 11q22.3 (103109430: 103479862)     Exons: 90     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 603297

Protein Summary

• Protein general information: Q8NCM8  
  • 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)
  • Length: 4307  
  • Mass: 492,622
• Sequence:

  MANGTADVRKLFIFTTTQNYFGLMSELWDQPLLCNCLEINNFLDDGNQMLLRVQRSDAGISFSNTIEFGDTKDKV
  LVFFKLRPEVITDENLHDNILVSSMLESPISSLYQAVRQVFAPMLLKDQEWSRNFDPKLQNLLSELEAGLGIVLR
  RSDTNLTKLKFKEDDTRGILTPSDEFQFWIEQAHRGNKQISKERANYFKELFETIAREFYNLDSLSLLEVVDLVE
  TTQDVVDDVWRQTEHDHYPESRMLHLLDIIGGSFGRFVQKKLGTLNLWEDPYYLVKESLKAGISICEQWVIVCNH
  LTGQVWQRYVPHPWKNEKYFPETLDKLGKRLEEVLAIRTIHEKFLYFLPASEEKIICLTRVFEPFTGLNPVQYNP
  YTEPLWKAAVSQYEKIIAPAEQKIAGKLKNYISEIQDSPQQLLQAFLKYKELVKRPTISKELMLERETLLARLVD
  SIKDFRLDFENRCRGIPGDASGPLSGKNLSEVVNSIVWVRQLELKVDDTIKIAEALLSDLPGFRCFHQSAKDLLD
  QLKLYEQEQFDDWSRDIQSGLSDSRSGLCIEASSRIMELDSNDGLLKVHYSDRLVILLREVRQLSALGFVIPAKI
  QQVANIAQKFCKQAIILKQVAHFYNSIDQQMIQSQRPMMLQSALAFEQIIKNSKAGSGGKSQITWDNPKELEGYI
  QKLQNAAERLATENRKLRKWHTTFCEKVVVLMNIDLLRQQQRWKDGLQELRTGLATVEAQGFQASDMHAWKQHWN
  HQLYKALEHQYQMGLEALNENLPEINIDLTYKQGRLQFRPPFEEIRAKYYREMKRFIGIPNQFKGVGEAGDESIF
  SIMIDRNASGFLTIFSKAEDLFRRLSAVLHQHKEWIVIGQVDMEALVEKHLFTVHDWEKNFKALKIKGKEVERLP
  SAVKVDCLNINCNPVKTVIDDLIQKLFDLLVLSLKKSIQAHLHEIDTFVTEAMEVLTIMPQSVEEIGDANLQYSK
  LQERKPEILPLFQEAEDKNRLLRTVAGGGLETISNLKAKWDKFELMMESHQLMIKDQIEVMKGNVKSRLQIYYQE
  LEKFKARWDQLKPGDDVIETGQHNTLDKSAKLIKEKKIEFDDLEVTRKKLVDDCHHFRLEEPNFSLASSISKDIE
  SCAQIWAFYEEFQQGFQEMANEDWITFRTKTYLFEEFLMNWHDRLRKVEEHSVMTVKLQSEVDKYKIVIPILKYV
  RGEHLSPDHWLDLFRLLGLPRGTSLEKLLFGDLLRVADTIVAKAADLKDLNSRAQGEVTIREALRELDLWGVGAV
  FTLIDYEDSQSRTMKLIKDWKDIVNQVGDNRCLLQSLKDSPYYKGFEDKVSIWERKLAELDEYLQNLNHIQRKWV
  YLEPIFGRGALPKEQTRFNRVDEDFRSIMTDIKKDNRVTTLTTHAGIRNSLLTILDQLQRCQKSLNEFLEEKRSA
  FPRFYFIGDDDLLEILGQSTNPSVIQSHLKKLFAGINSVCFDEKSKHITAMKSLEGEVVPFKNKVPLSNNVETWL
  NDLALEMKKTLEQLLKECVTTGRSSQGAVDPSLFPSQILCLAEQIKFTEDVENAIKDHSLHQIETQLVNKLEQYT
  NIDTSSEDPGNTESGILELKLKALILDIIHNIDVVKQLNQIQVHTTEDWAWKKQLRFYMKSDHTCCVQMVDSEFQ
  YTYEYQGNASKLVYTPLTDKCYLTLTQAMKMGLGGNPYGPAGTGKTESVKALGGLLGRQVLVFNCDEGIDVKSMG
  RIFVGLVKCGAWGCFDEFNRLEESVLSAVSMQIQTIQDALKNHRTVCELLGKEVEVNSNSGIFITMNPAGKGYGG
  RQKLPDNLKQLFRPVAMSHPDNELIAEVILYSEGFKDAKVLSRKLVAIFNLSRELLTPQQHYDWGLRALKTVLRG
  SGNLLRQLNKSGTTQNANESHIVVQALRLNTMSKFTFTDCTRFDALIKDVFPGIELKEVEYDELSAALKQVFEEA
  NYEIIPNQIKKALELYEQLCQRMGVVIVGPSGAGKSTLWRMLRAALCKTGKVVKQYTMNPKAMPRYQLLGHIDMD
  TREWSDGVLTNSARQVVREPQDVSSWIICDGDIDPEWIESLNSVLDDNRLLTMPSGERIQFGPNVNFVFETHDLS
  CASPATISRMGMIFLSDEETDLNSLIKSWLRNQPAEYRNNLENWIGDYFEKALQWVLKQNDYVVETSLVGTVMNG
  LSHLHGCRDHDEFIINLIRGLGGNLNMKSRLEFTKEVFHWARESPPDFHKPMDTYYDSTRGRLATYVLKKPEDLT
  ADDFSNGLTLPVIQTPDMQRGLDYFKPWLSSDTKQPFILVGPEGCGKGMLLRYAFSQLRSTQIATVHCSAQTTSR
  HLLQKLSQTCMVISTNTGRVYRPKDCERLVLYLKDINLPKLDKWGTSTLVAFLQQVLTYQGFYDENLEWVGLENI
  QIVASMSAGGRLGRHKLTTRFTSIVRLCSIDYPEREQLQTIYGAYLEPVLHKNLKNHSIWGSSSKIYLLAGSMVQ
  VYEQVRAKFTVDDYSHYFFTPCILTQWVLGLFRYDLEGGSSNHPLDYVLEIVAYEARRLFRDKIVGAKELHLFDI
  ILTSVFQGDWGSDILDNMSDSFYVTWGARHNSGARAAPGQPLPPHGKPLGKLNSTDLKDVIKKGLIHYGRDNQNL
  DILLFHEVLEYMSRIDRVLSFPGGSLLLAGRSGVGRRTITSLVSHMHGAVLFSPKISRGYELKQFKNDLKHVLQL
  AGIEAQQVVLLLEDYQFVHPTFLEMINSLLSSGEVPGLYTLEELEPLLLPLKDQASQDGFFGPVFNYFTYRIQQN
  LHIVLIMDSANSNFMINCESNPALHKKCQVLWMEGWSNSSMKKIPEMLFSETGGGEKYNDKKRKEEKKKNSVDPD
  FLKSFLLIHESCKAYGATPSRYMTFLHVYSAISSSKKKELLKRQSHLQAGVSKLNEAKALVDELNRKAGEQSVLL
  KTKQDEADAALQMITVSMQDASEQKTELERLKHRIAEEVVKIEERKNKIDDELKEVQPLVNEAKLAVGNIKPESL
  SEIRSLRMPPDVIRDILEGVLRLMGIFDTSWVSMKSFLAKRGVREDIATFDARNISKEIRESVEELLFKNKGSFD
  PKNAKRASTAAAPLAAWVKANIQYSHVLERIHPLETEQAGLESNLKKTEDRKRKLEELLNSVGQKVSELKEKFQS
  RTSEAAKLEAEVSKAQETIKAAEVLINQLDREHKRWNAQVVEITEELATLPKRAQLAAAFITYLSAAPESLRKTC
  LEEWTKSAGLEKFDLRRFLCTESEQLIWKSEGLPSDDLSIENALVILQSRVCPFLIDPSSQATEWLKTHLKDSRL
  EVINQQDSNFITALELAVRFGKTLIIQEMDGVEPVLYPLLRRDLVAQGPRYVVQIGDKIIDYNEEFRLFLSTRNP
  NPFIPPDAASIVTEVNFTTTRSGLRGQLLALTIQHEKPDLEEQKTKLLQQEEDKKIQLAKLEESLLETLATSQGN
  ILENKDLIESLNQTKASSALIQESLKESYKLQISLDQERDAYLPLAESASKMYFIISDLSKINNMYRFSLAAFLR
  LFQRALQNKQDSENTEQRIQSLISSLQHMVYEYICRCLFKADQLMFALHFVRGMHPELFQENEWDTFTGVVVGDM
  LRKADSQQKIRDQLPSWIDQERSWAVATLKIALPSLYQTLCFEDAALWRTYYNNSMCEQEFPSILAKKVSLFQQI
  LVVQALRPDRLQSAMALFACKTLGLKEVSPLPLNLKRLYKETLEIEPILIIISPGADPSQELQELANAERSGECY
  HQVAMGQGQADLAIQMLKECARNGDWLCLKNLHLVVSWLPVLEKELNTLQPKDTFRLWLTAEVHPNFTPILLQSS
  LKITYESPPGLKKNLMRTYESWTPEQISKKDNTHRAHALFSLAWFHAACQERRNYIPQGWTKFYEFSLSDLRAGY
  NIIDRLFDGAKDVQWEFVHGLLENAIYGGRIDNYFDLRVLQSYLKQFFNSSVIDVFNQRNKKSIFPYSVSLPQSC
  SILDYRAVIEKIPEDDKPSFFGLPANIARSSQRMISSQVISQLRILGRSITAGSKFDREIWSNELSPVLNLWKKL
  NQNSNLIHQKVPPPNDRQGSPILSFIILEQFNAIRLVQSVHQSLAALSKVIRGTTLLSSEVQKLASALLNQKCPL
  AWQSKWEGPEDPLQYLRGLVARALAIQNWVDKAEKQALLSETLDLSELFHPDTFLNALRQETARAVGRSVDSLKF
  VASWKGRLQEAKLQIKISGLLLEGCSFDGNQLSENQLDSPSVSSVLPCFMGWIPQDACGPYSPDECISLPVYTSA
  ERDRVVTNIDVPCGGNQDQWIQCGAALFLKNQ

• Structural information:
  • Interpro: IPR003593  IPR035699  IPR011704  IPR035706  IPR026983   IPR026815  IPR024743  IPR024317  IPR004273  IPR013594  IPR013602  IPR027417  
  • PDB: 4RH7
  • PDBsum: 4RH7
  • STRING: ENSP00000381167
• Other Databases: GeneCards:  DYNC2H1  Malacards:  DYNC2H1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003774	motor activity	NAS	molecular function
GO:0003777	microtubule motor activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005930	axoneme	IEA	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007030	Golgi organization	IDA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0008105	asymmetric protein localization	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0030286	dynein complex	IEA	cellular component
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0035721	intraciliary retrograde transport	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0060976	coronary vasculature development	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003774	motor activity	IEA	molecular function
GO:0003774	motor activity	NAS	molecular function
GO:0003777	microtubule motor activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005930	axoneme	IEA	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007018	microtubule-based movement	IEA	biological process
GO:0007030	Golgi organization	IDA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008105	asymmetric protein localization	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016485	protein processing	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0030286	dynein complex	IEA	cellular component
GO:0030286	dynein complex	IEA	cellular component
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0035721	intraciliary retrograde transport	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0060976	coronary vasculature development	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0003774	motor activity	NAS	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007030	Golgi organization	IDA	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04145	Phagosome
hsa04962	Vasopressin-regulated water reabsorption
hsa05132	Salmonella infection

Diseases

Associated diseases	References
Cancer	GAD: 21118971
Cancer (lung)	GAD: 21118971
Cancer (small cell lung)	GAD: 21118971
Cardiovascular disease	GAD: 21378988
Coronary heart disease	GAD: 21378988
Short rib-polydactyly syndrome	KEGG: H00511
Platelet aggregation	GAD: 17903294
Asthenozoospermia	MIK: 21898990
Male factor infertility	MIK: 21898990
Asphyxiating thoracic dystrophy	KEGG: H00751
Asthenospermia	MIK: 21898990
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21898990	Asthenospermia				Male infertility	KIF3B MYO15A KIF6 KIF26B KIF3A DNHD2 DMN DYNC2H1 STARD9 MYOHD1 and TPM1
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)