Gene: DYNC2H1

Alternate names for this Gene: ATD3|DHC1b|DHC2|DNCH2|DYH1B|SRPS2B|SRTD3|hdhc11

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q22.3

Description of this Gene: dynein cytoplasmic 2 heavy chain 1

Type of Gene: protein-coding

rs680071 in DYNC2H1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs759549373 in DYNC2H1 gene and Disproportionate tall stature PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs137853027 in DYNC2H1 gene and Jeune thoracic dystrophy PMID 19442771 2009 DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

PMID 23339108 2013 Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

PMID 23456818 2013 Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

PMID 27925158 2017 Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

PMID 22499340 2012 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

rs1202784860 in DYNC2H1 gene and Saldino-Noonan Syndrome PMID 19361615 2009 Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

PMID 22499340 2012 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

PMID 19442771 2009 DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

PMID 23456818 2013 Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs759549373 in DYNC2H1 gene and Short ribs PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs12294076 in DYNC2H1 gene and Tuberculosis PMID 24057671 2014 Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.

rs17308149 in DYNC2H1 gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).