DYNC2H1

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DYNC2H1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases DYNC2H1, ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11, dynein cytoplasmic 2 heavy chain 1
External IDs MGI: 107736 HomoloGene: 14468 GeneCards: DYNC2H1
Gene location (Human)
Chromosome 11 (human)
Chr. Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for DYNC2H1
Genomic location for DYNC2H1
Band 11q22.3 Start 103,109,431 bp[1]
End 103,479,863 bp[1]
RNA expression pattern
PBB GE DYNC2H1 gnf1h02286 at fs.png

PBB GE DYNC2H1 gnf1h02290 at fs.png

PBB GE DYNC2H1 gnf1h02291 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001080463
NM_001377
NM_024606

NM_029851

RefSeq (protein)

NP_001073932
NP_001368

NP_084127

Location (UCSC) Chr 11: 103.11 – 103.48 Mb Chr 11: 6.93 – 7.18 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.[5][6][7]

It is associated with Short rib-polydactyly syndrome type 3.[8]

It is also associated with Asphyxiating thoracic dysplasia.[9]


See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187240 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047193 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Koehler MR, Schmid M, Neesen J (Nov 1998). "Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1". Cytogenet Cell Genet. 82 (1–2): 123–5. PMID 9763680. doi:10.1159/000015085. 
  6. ^ Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M (Dec 1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene". Gene. 200 (1–2): 193–202. PMID 9373155. doi:10.1016/S0378-1119(97)00417-4. 
  7. ^ "Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1". 
  8. ^ Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. PMC 2667993Freely accessible. PMID 19361615. doi:10.1016/j.ajhg.2009.03.015. 
  9. ^ Dagoneau N, Goulet M, Geneviève D, et al. (May 2009). "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III". Am. J. Hum. Genet. 84 (5): 706–11. PMC 2681009Freely accessible. PMID 19442771. doi:10.1016/j.ajhg.2009.04.016. 

Further reading[edit]