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DYNC2H1

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From Wikipedia, the free encyclopedia

Protein-coding gene in humans

DYNC2H1

Available structures

PDB

Ortholog search:PDBe RCSB

List of PDB id codes
4RH7

Identifiers

Aliases

DYNC2H1, ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11, dynein cytoplasmic 2 heavy chain 1

External IDs

OMIM:603297;MGI:107736;HomoloGene:14468;GeneCards:DYNC2H1;OMA:DYNC2H1 - orthologs

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11q22.3	Start	103,109,410bp^[1]
Band	11q22.3	End	103,479,863bp^[1]

Gene location (Mouse)

Chr.	Chromosome 9 (mouse)^[2]

Band	9 A1\|9	Start	6,928,503bp^[2]
Band	9 A1\|9	End	7,184,446bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

secondary oocyte

bronchial epithelial cell

right uterine tube

Achilles tendon

olfactory zone of nasal mucosa

mucosa of paranasal sinus

anterior pituitary

tibia

ventricular zone

testicle

Top expressed in

spermatocyte

spermatid

otolith organ

utricle

superior cervical ganglion

seminiferous tubule

respiratory epithelium

olfactory epithelium

lens

tail of embryo

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	microtubule motor activity nucleotide binding ATPase activity cytoskeletal motor activity ATP binding minus-end-directed microtubule motor activity dynein light chain binding dynein intermediate chain binding dynein light intermediate chain binding
Cellular component	cytoplasm Golgi apparatus cell projection membrane plasma membrane ciliary tip dynein complex microtubule extracellular exosome cytoskeleton cilium cytoplasmic dynein complex apical part of cell axoneme motile cilium
Biological process	Golgi organization multicellular organism development microtubule-based movement cell projection organization intraciliary transport involved in cilium assembly determination of left/right symmetry development of the heart dorsal/ventral pattern formation protein processing spinal cord motor neuron differentiation neuron differentiation embryonic limb morphogenesis forebrain development positive regulation of smoothened signaling pathway coronary vasculature development non-motile cilium assembly intraciliary retrograde transport cilium assembly protein localization to cilium
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


79659


110350

Ensembl


ENSG00000187240


ENSMUSG00000047193

UniProt


Q8NCM8


Q45VK7

RefSeq (mRNA)


NM_001080463 NM_001377 NM_024606


NM_029851 NM_001364519 NM_138307

RefSeq (protein)


NP_001073932 NP_001368


NP_084127 NP_001351448

Location (UCSC)

Chr 11: 103.11 – 103.48 Mb

Chr 9: 6.93 – 7.18 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Cytoplasmic dynein 2 heavy chain 1 is aprotein that in humans is encoded by theDYNC2H1gene.^[5]^[6]^[7]

It is associated withshort rib–polydactyly syndrome type 3.^[8]

It is also associated withasphyxiating thoracic dysplasia.^[9]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000187240 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000047193 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.doi:10.1159/000015085.PMID 9763680.S2CID 46818608.
^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.doi:10.1016/S0378-1119(97)00417-4.PMID 9373155.
^"Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1".
^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.doi:10.1016/j.ajhg.2009.03.015.PMC 2667993.PMID 19361615.
^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.doi:10.1016/j.ajhg.2009.04.016.PMC 2681009.PMID 19442771.

Gibbons BH, Asai DJ, Tang WJ, et al. (1994)."Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins".Mol. Biol. Cell.5 (1):57–70.doi:10.1091/mbc.5.1.57.PMC 301009.PMID 8186465.
Vaisberg EA, Grissom PM, McIntosh JR (1996)."Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles".J. Cell Biol.133 (4):831–42.doi:10.1083/jcb.133.4.831.PMC 2120833.PMID 8666668.
Criswell PS, Ostrowski LE, Asai DJ (1997). "A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells".J. Cell Sci.109 (7):1891–8.doi:10.1242/jcs.109.7.1891.PMID 8832411.
Kastury K, Taylor WE, Gutierrez M, et al. (1997). "Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11".Genomics.44 (3):362–4.doi:10.1006/geno.1997.4903.PMID 9325061.
Grissom PM, Vaisberg EA, McIntosh JR (2002)."Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2".Mol. Biol. Cell.13 (3):817–29.doi:10.1091/mbc.01-08-0402.PMC 99601.PMID 11907264.
Ohara O, Nagase T, Mitsui G, et al. (2003). "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method".DNA Res.9 (2):47–57.CiteSeerX 10.1.1.579.1376.doi:10.1093/dnares/9.2.47.PMID 12056414.
Mikami A, Tynan SH, Hama T, et al. (2003)."Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells".J. Cell Sci.115 (Pt 24):4801–8.doi:10.1242/jcs.00168.PMID 12432068.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99 (26):16899–903.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC 139241.PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004)."Complete sequencing and characterization of 21,243 full-length human cDNAs".Nat. Genet.36 (1):40–5.doi:10.1038/ng1285.PMID 14702039.
Yokota T, Kouno J, Adachi K, et al. (2006). "Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin".Acta Neuropathol.111 (1):29–38.doi:10.1007/s00401-005-1085-6.PMID 16320026.S2CID 22206187.

Proteins of thecytoskeleton

Human

Microfilaments
andABPs

Myofilament

Actins	A1 A2 B C1 G1 G2
Myosins	I MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H) II MYH1 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 III MYO3A MYO3B V MYO5A MYO5B MYO5C VI MYO6 VII MYO7A MYO7B IX MYO9A MYO9B X MYO10 XV MYO15A XVIII MYO18A MYO18B LC MYL1 MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP MYLK MYLK2 MYLL1
Other	Tropomodulin 1 2 3 4 Troponin T 1 2 3 C 1 2 I 1 2 3 Tropomyosin 1 2 3 4 Actinin 1 2 3 4 Arp2/3 complex actin depolymerizing factors Cofilin 1 2 Destrin Gelsolin Profilin 1 2 Titin

Other

Intermediate
filaments

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 9 10 12 13 14 15 16 17 19 20 chromosome 12 18 none 21 type II/chromosome 12 1 2A 3 4 5 6A 6B 6C 7 8
Hair keratins (hard alpha-keratins)	type I/chromosome 17 31 32 33A 33B 34 35 36 37 38 type II/chromosome 12 81 82 83 84 85 86
Ungrouped alpha	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Not alpha	Beta-keratin

Type 3

Type 4

Type 5

Microtubules
andMAPs

Tubulins	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB2C TUBB3 TUBB4 TUBB4Q TUBB6 TUBB8 TUBG1 TUBG2 TUBGCP2 TUBGCP3 TUBGCP4 TUBGCP5 TUBGCP6 TUBD1 TUBE1
MAPs	EB1 EB2 EB3 MAP1A MAP1B MAP2 MAP4
Kinesins	KIF1A KIF1B KIF2A KIF2C KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF5C KIF6 KIF7 KIF9 KIF11 KIF12 KIF13A KIF13B KIF14 KIF15 KIF16B KIF17 KIF18A KIF18B KIF19 KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF24 KIF25 KIF26A KIF26B KIF27 KIFC1 KIFC2 KIFC3
Dyneins	axonemal:DNAH1 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAH10 DNAH11 DNAH12 DNAH13 DNAH14 DNAH17 DNAI1 DNAI2 DNALI1 DNAL1 DNAL4 cytoplasmic:DYNC1H1 DYNC2H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT3
Microtubule organising proteins	CAMSAP1 CAMSAP2 CAMSAP3 Centrin 1 Centrin 2 Centrin 3 PCM1
Microtubule severing proteins	Katanin Spastin
Other	Tau protein Dynactin DCTN1 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3