Seroatlas · Human Serome Atlas

DYNC2I1

Cytoplasmic dynein 2 intermediate chain 1

Also known as: CFAP163, DC2I1_HUMAN, DIC6, FAP163, FLJ10300, WDR60

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

Protein identityUniProt · HPA

UniProt accession: Q8WVS4
Gene: DYNC2I1
Ensembl: ENSG00000126870
Chromosome: 7
Canonical length: 1066 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Primary cilium,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]

Canonical amino-acid sequenceUniProt

1066 residues, UniProt reviewed canonical sequence.

>Q8WVS4|DYNC2I1
     1  MEPGKRRTKD DTWKADDLRK HLWAIQSGGS KEERKHREKK LRKESEMDLP EHKEPRCRDP
    61  DQDARSRDRV AEVHTAKESP RGERDRDRQR ERRRDAKDRE KEKLKEKHRE AEKSHSRGKD
   121  REKEKDRRAR KEELRQTVAH HNLLGQETRD RQLLERAERK GRSVSKVRSE EKDEDSERGD
   181  EDRERRYRER KLQYGDSKDN PLKYWLYKEE GERRHRKPRE PDRDNKHREK SSTREKREKY
   241  SKEKSNSFSD KGEERHKEKR HKEGFHFDDE RHQSNVDRKE KSAKDEPRKR ESQNGEHRNR
   301  GASSKRDGTS SQHAENLVRN HGKDKDSRRK HGHEEGSSVW WKLDQRPGGE ETVEIEKEET
   361  DLENARADAY TASCEDDFED YEDDFEVCDG DDDESSNEPE SREKLEELPL AQKKEIQEIQ
   421  RAINAENERI GELSLKLFQK RGRTEFEKEP RTDTNSSPSR ASVCGIFVDF ASASHRQKSR
   481  TQALKQKMRS TKLLRLIDLD FSFTFSLLDL PPVNEYDMYI RNFGKKNTKQ AYVQCNEDNV
   541  ERDIQTEEIE TREVWTQHPG ESTVVSGGSE QRDTSDAVVM PKIDTPRLCS FLRAACQVMA
   601  VLLEEDRLAA EPSWNLRAQD RALYFSDSSS QLNTSLPFLQ NRKVSSLHTS RVQRQMVVSV
   661  HDLPEKSFVP LLDSKYVLCV WDIWQPSGPQ KVLICESQVT CCCLSPLKAF LLFAGTAHGS
   721  VVVWDLREDS RLHYSVTLSD GFWTFRTATF STDGILTSVN HRSPLQAVEP ISTSVHKKQS
   781  FVLSPFSTQE EMSGLSFHIA SLDESGVLNV WVVVELPKAD IAGSISDLGL MPGGRVKLVH
   841  SALIQLGDSL SHKGNEFWGT TQTLNVKFLP SDPNHFIIGT DMGLISHGTR QDLRVAPKLF
   901  KPQQHGIRPV KVNVIDFSPF GEPIFLAGCS DGSIRLHQLS SAFPLLQWDS STDSHAVTGL
   961  QWSPTRPAVF LVQDDTSNIY IWDLLQSDLG PVAKQQVSPN RLVAMAAVGE PEKAGGSFLA
  1021  LVLARASGSI DIQHLKRRWA APEVDECNRL RLLLQEALWP EGKLHK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DYNC2I1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 38 nTPM

Expression across tissuesHPA

Tissue

testis: 38 nTPM
skeletal muscle: 23 nTPM
heart muscle: 14 nTPM
retina: 13 nTPM
fallopian tube: 12 nTPM
adipose tissue: 12 nTPM

Single-cell type

late primary spermatocytes: 888 nCPM
ependymal cells: 696 nCPM
early spermatids: 576 nCPM
respiratory ciliated cells: 502 nCPM
endometrial ciliated cells: 490 nCPM
epididymal efferent duct ciliated cells: 369 nCPM

Immune cell

basophil: 50 nTPM
plasmacytoid DC: 43 nTPM
naive B-cell: 23 nTPM
memory B-cell: 22 nTPM
gdT-cell: 14 nTPM
MAIT T-cell: 12 nTPM

Brain region

cerebral cortex: 69 nTPM
choroid plexus: 62 nTPM
white matter: 45 nTPM
cerebellum: 40 nTPM
medulla oblongata: 38 nTPM
amygdala: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DYNC2I1.

Disease | AllUniProt

Conditions DYNC2I1 is implicated in, by any mechanism.

Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) MIM:615503

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 657 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short-rib thoracic dysplasia 8 with or without polydactyly
Asphyxiating thoracic dystrophy 3
DYNC2I1-related disorder
Cystic renal disease

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): 0.67
gnomAD pLI: 0
DepMap mean gene effect: 0.17
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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

WD40 repeat
WD40/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
Cytoplasmic dynein 2 intermediate chain 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DYNC2I1 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 DYNC2I1 as an antibody target. Whether an autoantibody or antibody against DYNC2I1 could matter depends on whether native DYNC2I1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DYNC2I1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DYNC2I1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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