Seroatlas · Human Serome Atlas

DYNC2H1

Cytoplasmic dynein 2 heavy chain 1

Also known as: DHC1b, DHC2, DNCH2, DYH1B, DYHC2_HUMAN, hdhc11

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8NCM8
Gene: DYNC2H1
Ensembl: ENSG00000187240
Chromosome: 11
Canonical length: 4307 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Mitochondria,Cytosol,Mid piece,Principal piece
Quaternary structure: Homodimer

OverviewNCBI 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 spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

4307 residues, UniProt reviewed canonical sequence.

>Q8NCM8|DYNC2H1
     1  MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML LRVQRSDAGI
    61  SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM LESPISSLYQ AVRQVFAPML
   121  LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI
   181  EQAHRGNKQI SKERANYFKE LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH
   241  DHYPESRMLH LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
   301  LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA SEEKIICLTR
   361  VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA GKLKNYISEI QDSPQQLLQA
   421  FLKYKELVKR PTISKELMLE RETLLARLVD SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS
   481  EVVNSIVWVR QLELKVDDTI KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR
   541  DIQSGLSDSR SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
   601  QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII KNSKAGSGGK
   661  SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC EKVVVLMNID LLRQQQRWKD
   721  GLQELRTGLA TVEAQGFQAS DMHAWKQHWN HQLYKALEHQ YQMGLEALNE NLPEINIDLT
   781  YKQGRLQFRP PFEEIRAKYY REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF
   841  SKAEDLFRRL SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
   901  SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT EAMEVLTIMP
   961  QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV AGGGLETISN LKAKWDKFEL
  1021  MMESHQLMIK DQIEVMKGNV KSRLQIYYQE LEKFKARWDQ LKPGDDVIET GQHNTLDKSA
  1081  KLIKEKKIEF DDLEVTRKKL VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG
  1141  FQEMANEDWI TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
  1201  RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL NSRAQGEVTI
  1261  REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN QVGDNRCLLQ SLKDSPYYKG
  1321  FEDKVSIWER KLAELDEYLQ NLNHIQRKWV YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT
  1381  DIKKDNRVTT LTTHAGIRNS LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI
  1441  LGQSTNPSVI QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
  1501  NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED VENAIKDHSL
  1561  HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI LDIIHNIDVV KQLNQIQVHT
  1621  TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK
  1681  MGLGGNPYGP AGTGKTESVK ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF
  1741  DEFNRLEESV LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
  1801  RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN LSRELLTPQQ
  1861  HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ ALRLNTMSKF TFTDCTRFDA
  1921  LIKDVFPGIE LKEVEYDELS AALKQVFEEA NYEIIPNQIK KALELYEQLC QRMGVVIVGP
  1981  SGAGKSTLWR MLRAALCKTG KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ
  2041  VVREPQDVSS WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
  2101  CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE KALQWVLKQN
  2161  DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL NMKSRLEFTK EVFHWARESP
  2221  PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS
  2281  SDTKQPFILV GPEGCGKGML LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST
  2341  NTGRVYRPKD CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
  2401  QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL HKNLKNHSIW
  2461  GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT QWVLGLFRYD LEGGSSNHPL
  2521  DYVLEIVAYE ARRLFRDKIV GAKELHLFDI ILTSVFQGDW GSDILDNMSD SFYVTWGARH
  2581  NSGARAAPGQ PLPPHGKPLG KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI
  2641  DRVLSFPGGS LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
  2701  AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP LKDQASQDGF
  2761  FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH KKCQVLWMEG WSNSSMKKIP
  2821  EMLFSETGGG EKYNDKKRKE EKKKNSVDPD FLKSFLLIHE SCKAYGATPS RYMTFLHVYS
  2881  AISSSKKKEL LKRQSHLQAG VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT
  2941  VSMQDASEQK TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
  3001  SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF DARNISKEIR
  3061  ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS HVLERIHPLE TEQAGLESNL
  3121  KKTEDRKRKL EELLNSVGQK VSELKEKFQS RTSEAAKLEA EVSKAQETIK AAEVLINQLD
  3181  REHKRWNAQV VEITEELATL PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL
  3241  RRFLCTESEQ LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL
  3301  EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR YVVQIGDKII
  3361  DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR GQLLALTIQH EKPDLEEQKT
  3421  KLLQQEEDKK IQLAKLEESL LETLATSQGN ILENKDLIES LNQTKASSAL IQESLKESYK
  3481  LQISLDQERD AYLPLAESAS KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT
  3541  EQRIQSLISS LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM
  3601  LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT YYNNSMCEQE
  3661  FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL KEVSPLPLNL KRLYKETLEI
  3721  EPILIIISPG ADPSQELQEL ANAERSGECY HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK
  3781  NLHLVVSWLP VLEKELNTLQ PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL
  3841  MRTYESWTPE QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY
  3901  NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS SVIDVFNQRN
  3961  KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA NIARSSQRMI SSQVISQLRI
  4021  LGRSITAGSK FDREIWSNEL SPVLNLWKKL NQNSNLIHQK VPPPNDRQGS PILSFIILEQ
  4081  FNAIRLVQSV HQSLAALSKV IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY
  4141  LRGLVARALA IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF
  4201  VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM GWIPQDACGP
  4261  YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA ALFLKNQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DYNC2H1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0
Highest tissue expression: 18 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 18 nTPM
retina: 9.5 nTPM
testis: 7.8 nTPM
pituitary gland: 6.7 nTPM
parathyroid gland: 6.3 nTPM
fallopian tube: 6.1 nTPM

Single-cell type

ependymal cells: 1,089 nCPM
respiratory ciliated cells: 952 nCPM
endometrial ciliated cells: 568 nCPM
fallopian tube ciliated cells: 539 nCPM
distal convoluted tubule cells: 495 nCPM
corticotrophs: 481 nCPM

Immune cell

NK-cell: 0.7 nTPM
MAIT T-cell: 0.5 nTPM
gdT-cell: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM

Brain region

choroid plexus: 36 nTPM
midbrain: 25 nTPM
medulla oblongata: 24 nTPM
hypothalamus: 19 nTPM
spinal cord: 17 nTPM
white matter: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DYNC2H1.

Disease | AllUniProt

Conditions DYNC2H1 is implicated in, by any mechanism.

Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) MIM:613091

Disease | GeneticClinVar

569 pathogenic / likely-pathogenic of 4,235 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Autosomal recessive retinitis pigmentosa
Narrow chest

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.58
gnomAD pLI: 0
gnomAD missense Z: 0.91
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DYNC2H1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DYNC2H1 as an antibody target. Whether an autoantibody or antibody against DYNC2H1 could matter depends on whether native DYNC2H1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DYNC2H1 is annotated at the cell surface, where native DYNC2H1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label DYNC2H1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...