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DYNC2H1 Gene

protein-coding GIFtS: 54
GCID: GC11P102980

Dynein, Cytoplasmic 2, Heavy Chain 1

(Previous names: dynein, cytoplasmic, heavy polypeptide 2)
(Previous symbol: DNCH2)

See DYNC2H1-related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Dynein, Cytoplasmic 2, Heavy Chain 1¹ ²		SRTD3² ⁵
DNCH2¹ ² ³ ⁵		DHC1b²
DHC2² ³ ⁵		Cytoplasmic Dynein 2 Heavy Chain 1²
Dynein, Cytoplasmic, Heavy Polypeptide 2¹ ²		Dynein Heavy Chain, Isotype 1B²
Dynein Cytoplasmic Heavy Chain 2² ³		hdhc11²
Dynein Heavy Chain 11² ³		DHC1B³
Dynein Heavy Chain Isotype 1B² ³		KIAA1997³
DYH1B² ³		Cytoplasmic Dynein 2 Heavy Chain³
ATD3² ⁵		hDHC11³
SRPS2B² ⁵

External Ids:	HGNC: 2962¹	Entrez Gene: 79659²	Ensembl: ENSG00000187240⁷	OMIM: 603297⁵	UniProtKB: Q8NCM8³

Export aliases for DYNC2H1 gene to outside databases

Previous GC identifers: GC11P102487 GC11P098908

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DYNC2H1 Gene:

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. (provided by RefSeq, Jan 2010)

GeneCards Summary for DYNC2H1 Gene:

DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1) is a protein-coding gene. Diseases associated with DYNC2H1 include asphyxiating thoracic dystrophy 3, and short rib-polydactyly syndrome type 3. GO annotations related to this gene include motor activity and ATPase activity. An important paralog of this gene is DNAH5.

UniProtKB/Swiss-Prot: DYHC2_HUMAN, Q8NCM8

Function: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play

a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity)

Gene Wiki entry for DYNC2H1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000011.9 NT_033899.9 NC_018922.2

Regulatory elements:

Regulatory transcription factor binding sites in the DYNC2H1 gene promoter:
c-Fos AP-1 ATF-2 NF-AT CRE-BP1 CREB NF-AT2 c-Jun NF-AT1 RSRFC4
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for DYNC2H1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DYNC2H1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q21-q22.1 Ensembl cytogenetic band: 11q22.3 HGNC cytogenetic band: 11q21-q22.1

DYNC2H1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYNC2H1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P102980: view genomic region (about GC identifiers)

Start:	102,980,160 bp from pter	End:	103,350,591 bp from pter
Size:	370,432 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DYHC2_HUMAN, Q8NCM8 (See protein sequence)

Recommended Name: Cytoplasmic dynein 2 heavy chain 1

Size: 4307 amino acids; 492622 Da

Subunit: The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of

DYNC2LI1 light intermediate chains (By similarity)

Sequence caution: Sequence=BAB13905.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAC04578.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD18598.1;

Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: O00432 Q16693 Q3C1U8 Q4AC93 Q6ZMX7 Q6ZUM6 Q7Z363 Q8N977 Q92815 Q9HAE4

Alternative splicing: 3 isoforms: Q8NCM8-1 Q8NCM8-2 Q8NCM8-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DYNC2H1: NX_Q8NCM8

Explore proteomics data for DYNC2H1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See DYNC2H1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001073932.1 NP_001368.2

ENSEMBL proteins:

ENSP00000364887 ENSP00000334021 ENSP00000381167 ENSP00000433451 ENSP00000436736

Reactome Protein details: Q8NCM8

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

DYN: Cytoplasmic dyneins

Selected InterPro protein domains (see all 10):

IPR004273 Dynein_heavy_dom

IPR011704 ATPase_dyneun-rel_AAA

IPR013602 Dynein_heavy_dom-2

IPR027417 P-loop_NTPase

IPR013594 Dynein_heavy_dom-1

Graphical View of Domain Structure for InterPro Entry Q8NCM8

ProtoNet protein and cluster: Q8NCM8

UniProtKB/Swiss-Prot: DYHC2_HUMAN, Q8NCM8

Similarity: Belongs to the dynein heavy chain family

Find genes that share domains with DYNC2H1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: DYHC2_HUMAN, Q8NCM8

Function: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play

a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity)

Gene Ontology (GO): Selected molecular function terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0003774	motor activity	NAS	8666668
GO:0003777	microtubule motor activity	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0016887	ATPase activity	IEA	--

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Phenotypes:
12 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Dync2h1):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
limbs/digits/tail	mortality/aging	nervous system	renal/urinary system	respiratory system
skeleton	vision/eye

Find genes that share phenotypes with DYNC2H1 About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for DYNC2H1

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

DYHC2_HUMAN, Q8NCM8: Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Cell membrane; Peripheral membrane

protein (By similarity). Cytoplasm (By similarity). Note=Localizes to the apical cytoplasm (By similarity).

According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
golgi apparatus	5
plasma membrane	5
cytosol	4
extracellular	1
mitochondrion	1
nucleus	1

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Gene Ontology (GO): Selected cellular component terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005794	Golgi apparatus	IDA	8666668
GO:0005829	cytosol	TAS	--
GO:0005874	microtubule	IDA	--
GO:0005886	plasma membrane	IEA	--
GO:0030286	dynein complex	IEA	--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for DYNC2H1 About

See pathways by source

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SuperPath

Contained pathways About

Class I MHC mediated antigen processing and presentation

Adaptive Immune System

0.41

Salmonella infection (KEGG)

Salmonella infection

0.30

Vasopressin-regulated water reabsorption

Vasopressin-regulated water reabsorption

Phagosome

Phagosome

MHC class II antigen presentation

MHC class II antigen presentation

Find genes that share SuperPaths with DYNC2H1 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for DYNC2H1

MHC class II antigen presentation

3 Kegg Pathways (Kegg details for DYNC2H1):

	Phagosome
	Vasopressin-regulated water reabsorption
	Salmonella infection

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for DYNC2H1
Interactions:

Search GeneGlobe Interaction Network for DYNC2H1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for DYNC2H1 (Q8NCM8³ ENSP00000381167⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 79)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DYNC2LI1	Q8TCX1³, ENSP00000260605⁴	I2D: score=2 STRING: ENSP00000260605
SHB	Q15464³	I2D: score=1
USP50	Q70EL3³	I2D: score=1
DCTN1	ENSP00000354791⁴	STRING: ENSP00000354791
DCTN2	ENSP00000408910⁴	STRING: ENSP00000408910

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Gene Ontology (GO): Selected biological process terms (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001539	cilium or flagellum-dependent cell motility	IEA	--
GO:0007018	microtubule-based movement	IEA	--
GO:0007030	Golgi organization	IDA	8666668
GO:0007368	determination of left/right symmetry	IEA	--
GO:0008105	asymmetric protein localization	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for DYNC2H1 (DYHC2)

2 PharmGKB related drug/compound annotations for DYNC2H1 gene About this table

Drug/compound	PharmGKB Annotation
Platinum compounds	CA
etoposide	CA

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for DYNC2H1 gene (3 alternative transcripts):

NM_001080463.1 NM_001377.2 NM_024606.2

Unigene Cluster for DYNC2H1:

Dynein, cytoplasmic 2, heavy chain 1

Hs.503721 [show with all ESTs]

Unigene Representative Sequence: NM_001080463

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000375735(uc001phn.1 uc001pho.2 uc009yxe.1) ENST00000334267

ENST00000398093 ENST00000533027 ENST00000525306 ENST00000528670 ENST00000533197

ENST00000530547 ENST00000527252

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Additional mRNA sequence:

AB082528.2 AB231765.1 AB231766.1 AB290167.1 AF288405.1 AK021818.1 AK095579.1 AK125524.1

AK131453.1 BC038344.1 BX538093.1 BX649161.1 U20552.1 U53531.1 Z83800.1

6 DOTS entries:

DT.40194787 DT.209797 DT.100693366 DT.95278970 DT.97770434 DT.101981168

5 AceView cDNA sequences:

U20552 R64727 R64728 U53531 Z83800

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DYNC2H1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGGTCAGTCT

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DYNC2H1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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DYNC2H1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.503721

Custom PCR Arrays for DYNC2H1

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for DYNC2H1 gene from Selected species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dync2h1^{1 , 5}	dynein cytoplasmic 2 heavy chain 1^{1, 5}	87.1(n)¹ 93.36(a)¹		9 (2.46 cM)⁵ 110350¹ NM_029851.2¹ NP_084127.2¹ 6928503⁵
chicken (Gallus gallus)	Aves	DYNC2H1¹	dynein, cytoplasmic 2, heavy chain 1	77.42(n) 79.78(a)		418979 XM_004938837.1 XP_004938894.1
lizard (Anolis carolinensis)	Reptilia	DYNC2H1⁶	dynein, cytoplasmic 2, heavy chain 1	82(a)	1 ↔ 1	3(191759795-191949787)
tropical clawed frog (Xenopus tropicalis)	Amphibia	dync2h1¹	dynein, cytoplasmic 2, heavy chain 1	72.24(n) 76.7(a)		100380107 XM_002934933.2 XP_002934979.2
zebrafish (Danio rerio)	Actinopterygii	BI864255.1²	--	73.63(n)		BI864255.1
fruit fly (Drosophila melanogaster)	Insecta	btv⁶	beethoven	33(a)	1 ↔ 1	2L(17962735-17982472)
worm (Caenorhabditis elegans)	Secernentea	che-3¹	che-3	51.7(n) 42.17(a)		172593 NM_059820.2 NP_492221.2
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	DYN1⁶	Cytoplasmic heavy chain dynein, microtubule motor ...	21(a)	1 → many	XI(535647-547925) YKR054C

ENSEMBL Gene Tree for DYNC2H1 (if available)
TreeFam Gene Tree for DYNC2H1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for DYNC2H1 gene

DNAH5² DNAH2² DYNC1H1² DNAH8² DNAH9² DNAH3² DNAH11² DNAH7²

DNAH6² DNAH1² DNAH10² DNAH17²

8 SIMAP similar genes for DYNC2H1 using alignment to 4 protein entries: DYHC2_HUMAN (see all proteins):

Dnchc1 DNAH5 Dnahc3 DNAH14 Dnahc9 Dnahc11

DNAH2 DNAH1

Find genes that share paralogs with DYNC2H1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_069599⁴	Asphyxiating thoracic dystrophy 3 (ATD3)⁴	--	see VAR_069599	2	G D	mis⁴		0	--	--	--	--
VAR_063250⁴	Asphyxiating thoracic dystrophy 3 (ATD3)⁴	--	see VAR_063250	2	D G	mis⁴		0	--	--	--	--
VAR_063246⁴	Short rib-polydactyly syndrome 3 (SRPS3)⁴	--	see VAR_063246	2	T A	mis⁴		0	--	--	--	--
VAR_069600⁴	Asphyxiating thoracic dystrophy 3 (ATD3)⁴	--	see VAR_069600	2	M K	mis⁴		0	--	--	--	--
VAR_063251⁴	Asphyxiating thoracic dystrophy 3 (ATD3)⁴	--	see VAR_063251	2	L V	mis⁴		0	--	--	--	--
VAR_069603⁴	Asphyxiating thoracic dystrophy 3 (ATD3)⁴	--	see VAR_069603	2	N S	mis⁴		0	--	--	--	--
VAR_063243⁴	Short rib-polydactyly syndrome 3 (SRPS3)⁴	--	see VAR_063243	2	R C	mis⁴		0	--	--	--	--
VAR_063248⁴	Short rib-polydactyly syndrome 3 (SRPS3)⁴	--	see VAR_063248	2	R H	mis⁴		0	--	--	--	--
VAR_069607⁴	Asphyxiating thoracic dystrophy 3 (ATD3)⁴	--	see VAR_069607	2	V M	mis⁴		0	--	--	--	--
VAR_069594⁴	Short rib-polydactyly syndrome 2B (SRPS2B)⁴	--	see VAR_069594	2	K R	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for DYNC2H1 (102980160 - 103230160 bp, first 250kb of DYNC2H1)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for DYNC2H1 (see all 27): About this table

Variant ID	Type	Subtype	PubMed ID
esv4269	CNV	Deletion	18987735
esv2151015	CNV	Deletion	18987734
esv2508457	CNV	Deletion	19546169
esv2464518	CNV	Deletion	19546169
esv2660519	CNV	Deletion	23128226
esv2745007	CNV	Deletion	23290073
esv2745009	CNV	Deletion	23290073
esv270902	CNV	Insertion	20981092
esv274687	CNV	Insertion	20981092
esv995312	CNV	Insertion	20482838

Human Gene Mutation Database (HGMD): DYNC2H1

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603297
OMIM disorders: 613091
UniProtKB/Swiss-Prot: DYHC2_HUMAN, Q8NCM8

Asphyxiating thoracic dystrophy 3 (ATD3) [MIM:613091]: An autosomal recessive chondrodysplasia

characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often

leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and

hepatic disease can be present in affected individuals who survive early childhood. Note=The disease is caused by

mutations affecting the gene represented in this entry

Short rib-polydactyly syndrome 3 (SRPS3) [MIM:263510]: A lethal skeletal dysplasia characterized by

markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including

heart, intestines, genitalia, kidney, liver, and pancreas. Note=The disease is caused by mutations affecting the

gene represented in this entry

Short rib-polydactyly syndrome 2B (SRPS2B) [MIM:615087]: A lethal skeletal dysplasia characterized by

markedly short ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic

lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect

and cystic kidneys. The radiographic hallmarks include shortened and horizontal ribs, squared scapulae and

elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of

all four extremities, with extreme reduction of tibial bone length. Note=The disease is caused by mutations

affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the

presence of mutations in NEK1 indicating digenic inheritance (short rib-polydactyly syndrome 2A/B)

(PubMed:21211617)

8 diseases for DYNC2H1:
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asphyxiating thoracic dystrophy 3 short rib-polydactyly syndrome type 3 short-rib thoracic dysplasia 3 with or without polydactyly short-rib thoracic dysplasia 11 with or without polydactyly

polydactyly asphyxiating thoracic dystrophy short-rib thoracic dysplasia 6 with or without polydactyly sensenbrenner syndrome

3 inferred disease relationships from the University of Copenhagen DISEASES database for DYNC2H1:

Asphyxiating thoracic dystrophy Polydactyly Sensenbrenner syndrome

Find genes that share disorders with DYNC2H1 About GenesLikeMe

Genetic Association Database (GAD): DYNC2H1
Human Genome Epidemiology (HuGE) Navigator: DYNC2H1 (2 documents)

Export disorders for DYNC2H1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for DYNC2H1 gene, integrated from 10 sources (see all 40):
(articles sorted by number of sources associating them with DYNC2H1)

Utopia: connect your pdf to the dynamic
world of online information

Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PubMed id 9373155)^{1, 2, 3} Neesen J.... Schmid M. (Gene 1997)
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (PubMed id 19361615)^{1, 2, 9} Merrill A.E....Krakow D. (Am. J. Hum. Genet. 2009)
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. (PubMed id 19442771)^{1, 2, 9} Dagoneau N.... Cormier-Daire V. (Am. J. Hum. Genet. 2009)
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (PubMed id 23456818)^{1, 2} Schmidts M.... Mitchison H.M. (J. Med. Genet. 2013)
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. (PubMed id 22499340)^{1, 2} El Hokayem J.... Cormier-Daire V. (J. Med. Genet. 2012)
Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients. (PubMed id 21118971)^{1, 4} Wu C....Lin D. (Cancer Res. 2010)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
Genetic analysis of the cytoplasmic dynein subunit families. (PubMed id 16440056)^{1, 2} Pfister K.K.... Fisher E.M.C. (PLoS Genet. 2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)^{1, 2} Ohara O.... Koseki H. (DNA Res. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 79659	HGNC: 2962	AceView: DNCH2.2	Ensembl:ENSG00000187240	euGenes: HUgn79659
ECgene: DYNC2H1	Kegg: 79659	H-InvDB: DYNC2H1

(According to HUGE)
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HUGE: KIAA1997

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DYNC2H1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DYNC2H1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DYNC2H1 gene:
Search GeneIP for patents involving DYNC2H1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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DYNC2H1 Gene

Dynein, Cytoplasmic 2, Heavy Chain 1

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DYNC2H1 (Gene Symbol)
Dynein, Cytoplasmic 2, Heavy Chain 1
DNCH2
DHC2
Dynein, Cytoplasmic, Heavy Polypeptide 2
Dynein Cytoplasmic Heavy Chain 2
Dynein Heavy Chain 11
Dynein Heavy Chain Isotype 1B
DYH1B
ATD3
SRPS2B
SRTD3
DHC1b
Cytoplasmic Dynein 2 Heavy Chain 1
Dynein Heavy Chain, Isotype 1B
hdhc11
DHC1B
KIAA1997
Cytoplasmic Dynein 2 Heavy Chain
hDHC11

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DYNC2H1 Gene

Dynein, Cytoplasmic 2, Heavy Chain 1

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