Dynein, Cytoplasmic 2, Heavy Chain 1

Alternative Names

  • DYNC2H1
  • DNCH2
  • DHC2
  • Dynein Heavy Chain, Isotype 1B
  • DHC1B
Back to search Result
OMIM Number

603297

NCBI Gene ID

79659

Uniprot ID

Q8NCM8

Length

370,438 bases

No. of Exons

90

No. of isoforms

3

Protein Name

Cytoplasmic dynein 2 heavy chain 1

Molecular Mass

492622 Da

Amino Acid Count

4307

Genomic Location

chr11:103,109,425-103,479,862

Gene Map Locus
11q22.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001377.3:c.1151C>TSaudi ArabiaNC_000011.10:g.103120705C>TLikely Pathogenic, Uncertain SignificanceLikely PathogenicShort-Rib Thoracic Dysplasia 3 with or without PolydactylyNG_016423.2:g.16275C>T; NM_001377.3:c.1151C>T; NP_001368.2:p.Ala384Val369614706446677
NM_001377.3:c.6035C>TSaudi ArabiaNC_000011.10:g.103177716C>TLikely PathogenicShort-Rib Thoracic Dysplasia 3 with or without PolydactylyNG_016423.2:g.73286C>T; NM_001377.3:c.6035C>T; NP_001368.2:p.Ala2012Val1215030552
© CAGS 2024. All rights reserved.