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Aliases for DYNC2H1 Gene

Aliases for DYNC2H1 Gene

  • Dynein Cytoplasmic 2 Heavy Chain 1 2 3 5
  • Dynein, Cytoplasmic, Heavy Polypeptide 2 2 3
  • Dynein Cytoplasmic Heavy Chain 2 3 4
  • Dynein Heavy Chain 11 3 4
  • Hdhc11 3 4
  • DHC1b 3 4
  • DNCH2 3 4
  • DYH1B 3 4
  • DHC2 3 4
  • Cytoplasmic Dynein 2 Heavy Chain 1 3
  • Cytoplasmic Dynein 2 Heavy Chain 4
  • Dynein Heavy Chain, Isotype 1B 3
  • Dynein Heavy Chain Isotype 1B 4
  • KIAA1997 4
  • SRPS2B 3
  • SRTD3 3
  • ATD3 3

External Ids for DYNC2H1 Gene

Previous HGNC Symbols for DYNC2H1 Gene

  • DNCH2

Previous GeneCards Identifiers for DYNC2H1 Gene

  • GC11P102487
  • GC11P102980
  • GC11P098908

Summaries for DYNC2H1 Gene

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 Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly. Among its related pathways are Salmonella infection (KEGG) and Vasopressin-regulated water reabsorption. GO annotations related to this gene include ATPase activity and motor activity. An important paralog of this gene is DYNC1H1.

UniProtKB/Swiss-Prot for DYNC2H1 Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYNC2H1 Gene

Genomics for DYNC2H1 Gene

Regulatory Elements for DYNC2H1 Gene

Enhancers for DYNC2H1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G102759 1.4 FANTOM5 Ensembl ENCODE 24.7 -347.4 -347439 4.1 HDAC1 NFIB PLRG1 YY1 RFX5 RARA GATA2 ZNF366 ZNF350 RCOR1 DYNC2H1 C11orf70 MMP1 MMP8 MMP3 MMP27 MMP7 BIRC2 LOC100421658 ENSG00000225678
GH11G102445 2 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -657.9 -657875 11.2 MLX DMAP1 FEZF1 YY1 ZNF143 ZNF548 ZNF263 SP3 TBX21 SSRP1 BIRC2 DYNC2H1 TMEM123 MMP7 ENSG00000256916 MMP20 BIRC3 LOC101928424 GC11P102396
GH11G103069 0.7 ENCODE 17.6 -39.1 -39111 0.9 CTCF ZNF654 TRIM22 REST TBX21 RAD21 ZNF316 TARDBP ZNF143 NBN DYNC2H1 DCUN1D5 ENSG00000260966
GH11G102324 0.9 ENCODE dbSUPER 12.2 -784.2 -784164 0.7 RING1 CTCF RNF2 L3MBTL2 ELF4 ELF1 ATF2 ZNF707 POLR2A MGA DYNC2H1 BIRC3 BIRC2
GH11G103090 1.1 ENCODE 7.5 -17.7 -17738 2.6 PKNOX1 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 SLC30A9 DYNC2H1 DCUN1D5 ENSG00000260966
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DYNC2H1 on UCSC Golden Path with GeneCards custom track

Promoters for DYNC2H1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000044123 269 1801 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 KLF13 MXD4 REST KAT8

Genomic Location for DYNC2H1 Gene

Chromosome:
11
Start:
103,109,431 bp from pter
End:
103,479,863 bp from pter
Size:
370,433 bases
Orientation:
Plus strand

Genomic View for DYNC2H1 Gene

Genes around DYNC2H1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNC2H1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNC2H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNC2H1 Gene

Proteins for DYNC2H1 Gene

  • Protein details for DYNC2H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCM8-DYHC2_HUMAN
    Recommended name:
    Cytoplasmic dynein 2 heavy chain 1
    Protein Accession:
    Q8NCM8
    Secondary Accessions:
    • O00432
    • Q16693
    • Q3C1U8
    • Q4AC93
    • Q6ZMX7
    • Q6ZUM6
    • Q7Z363
    • Q8N977
    • Q92815
    • Q9HAE4

    Protein attributes for DYNC2H1 Gene

    Size:
    4307 amino acids
    Molecular mass:
    492622 Da
    Quaternary structure:
    • The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.
    SequenceCaution:
    • Sequence=BAB13905.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04578.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18598.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DYNC2H1 Gene

    Alternative splice isoforms for DYNC2H1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYNC2H1 Gene

Post-translational modifications for DYNC2H1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DYNC2H1 Gene

Domains & Families for DYNC2H1 Gene

Gene Families for DYNC2H1 Gene

Suggested Antigen Peptide Sequences for DYNC2H1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NCM8

UniProtKB/Swiss-Prot:

DYHC2_HUMAN :
  • Belongs to the dynein heavy chain family.
Family:
  • Belongs to the dynein heavy chain family.
genes like me logo Genes that share domains with DYNC2H1: view

Function for DYNC2H1 Gene

Molecular function for DYNC2H1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for DYNC2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity NAS 8666668
GO:0003777 microtubule motor activity IEA --
GO:0005524 ATP binding IEA --
GO:0008569 contributes_to ATP-dependent microtubule motor activity, minus-end-directed IDA 21723285
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DYNC2H1: view
genes like me logo Genes that share phenotypes with DYNC2H1: view

Human Phenotype Ontology for DYNC2H1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for DYNC2H1 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DYNC2H1 Gene

Localization for DYNC2H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC2H1 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cell membrane; Peripheral membrane protein. Cytoplasm. Note=Localizes to the apical cytoplasm (By similarity). According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum (PubMed:8666668). {ECO:0000250 UniProtKB:Q9JJ79, ECO:0000269 PubMed:8666668}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DYNC2H1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
golgi apparatus 5
plasma membrane 3
mitochondrion 3
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for DYNC2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA 8666668
GO:0005856 cytoskeleton IEA --
GO:0005868 cytoplasmic dynein complex IDA 21723285
GO:0005874 microtubule IDA,IEA 21525035
genes like me logo Genes that share ontologies with DYNC2H1: view

Pathways & Interactions for DYNC2H1 Gene

genes like me logo Genes that share pathways with DYNC2H1: view

Gene Ontology (GO) - Biological Process for DYNC2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA --
GO:0007030 Golgi organization IDA 8666668
GO:0007275 multicellular organism development IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with DYNC2H1: view

No data available for SIGNOR curated interactions for DYNC2H1 Gene

Drugs & Compounds for DYNC2H1 Gene

(2) Drugs for DYNC2H1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1269
Platinum compounds Pharma 0
genes like me logo Genes that share compounds with DYNC2H1: view

Transcripts for DYNC2H1 Gene

Unigene Clusters for DYNC2H1 Gene

Dynein, cytoplasmic 2, heavy chain 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DYNC2H1 Gene

No ASD Table

Relevant External Links for DYNC2H1 Gene

GeneLoc Exon Structure for
DYNC2H1
ECgene alternative splicing isoforms for
DYNC2H1

Expression for DYNC2H1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DYNC2H1 Gene

Protein differential expression in normal tissues from HIPED for DYNC2H1 Gene

This gene is overexpressed in NK cells (37.2) and Monocytes (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DYNC2H1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DYNC2H1 Gene:

DYNC2H1

SOURCE GeneReport for Unigene cluster for DYNC2H1 Gene:

Hs.503721

Evidence on tissue expression from TISSUES for DYNC2H1 Gene

  • Nervous system(4.3)
  • Eye(4.2)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNC2H1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DYNC2H1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DYNC2H1 Gene

Orthologs for DYNC2H1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DYNC2H1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYNC2H1 34 35
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia DYNC2H1 34
  • 91.49 (n)
oppossum
(Monodelphis domestica)
Mammalia DYNC2H1 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DYNC2H1 34 35
  • 90.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DYNC2H1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dync2h1 34 16 35
  • 87.1 (n)
rat
(Rattus norvegicus)
Mammalia Dync2h1 34
  • 86.9 (n)
chicken
(Gallus gallus)
Aves DYNC2H1 34 35
  • 77.42 (n)
lizard
(Anolis carolinensis)
Reptilia DYNC2H1 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dync2h1 34
  • 72.24 (n)
zebrafish
(Danio rerio)
Actinopterygii DYNC2H1 (2 of 2) 35
  • 76 (a)
OneToMany
CABZ01078919.1 35
  • 75 (a)
OneToMany
LOC100332402 34
  • 65.21 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1843 34
fruit fly
(Drosophila melanogaster)
Insecta btv 35
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea che-3 34 35
  • 51.7 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN1 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToOne
Species where no ortholog for DYNC2H1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DYNC2H1 Gene

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

Paralogs for DYNC2H1 Gene

Paralogs for DYNC2H1 Gene

(8) SIMAP similar genes for DYNC2H1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DYNC2H1: view

Variants for DYNC2H1 Gene

Sequence variations from dbSNP and Humsavar for DYNC2H1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs137853025 Pathogenic, Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] 103,177,652(+) GGAGA(A/T)TGTTA reference, missense
rs137853027 Pathogenic, Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] 103,220,720(+) TAGAG(A/G)TATTC reference, missense
rs137853028 Pathogenic, Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] 103,155,476(+) TACAA(C/T)TGTAG reference, missense
rs137853030 Pathogenic, Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] 103,125,197(+) AAGTT(C/T)GTCAG reference, missense
rs137853031 Pathogenic, Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] 103,185,032(+) GTCAC(A/G)TTTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DYNC2H1 Gene

Variant ID Type Subtype PubMed ID
dgv2139n54 CNV loss 21841781
dgv2140n54 CNV loss 21841781
dgv2141n54 CNV loss 21841781
dgv2142n54 CNV loss 21841781
dgv412e212 CNV loss 25503493
dgv711n106 CNV deletion 24896259
esv2151015 CNV deletion 18987734
esv2464518 CNV deletion 19546169
esv2508457 CNV deletion 19546169
esv2660519 CNV deletion 23128226
esv2745007 CNV deletion 23290073
esv2745009 CNV deletion 23290073
esv2750977 CNV gain 17911159
esv27587 CNV gain 19812545
esv2759861 CNV loss 17122850
esv2761705 CNV gain 21179565
esv3154684 CNV deletion 24192839
esv3154716 CNV deletion 24192839
esv3306626 CNV mobile element insertion 20981092
esv3335698 CNV insertion 20981092
esv33410 CNV loss 17666407
esv3548268 CNV deletion 23714750
esv3579885 CNV loss 25503493
esv3579891 CNV loss 25503493
esv3627546 CNV gain 21293372
esv3627547 CNV gain 21293372
esv3627550 CNV loss 21293372
esv3627551 CNV gain 21293372
esv3627553 CNV loss 21293372
esv3627555 CNV loss 21293372
esv3627556 CNV loss 21293372
esv3627557 CNV loss 21293372
esv3892092 CNV loss 25118596
esv4269 CNV loss 18987735
esv6849 CNV gain 19470904
esv7259 CNV gain 19470904
esv995312 CNV insertion 20482838
nsv1038145 CNV gain 25217958
nsv1041505 CNV gain 25217958
nsv1045225 CNV loss 25217958
nsv1045952 CNV gain 25217958
nsv1070067 CNV deletion 25765185
nsv1110685 CNV insertion 24896259
nsv1134172 CNV deletion 24896259
nsv1145567 CNV deletion 24896259
nsv1159934 CNV duplication 26073780
nsv39433 CNV deletion 16902084
nsv468855 CNV loss 19166990
nsv521204 CNV loss 19592680
nsv523713 CNV gain 19592680
nsv556165 CNV loss 21841781
nsv556166 CNV gain 21841781
nsv556169 CNV loss 21841781
nsv556170 CNV loss 21841781
nsv556174 CNV loss 21841781
nsv556177 CNV loss 21841781
nsv556178 CNV loss 21841781
nsv556181 CNV gain 21841781
nsv826063 CNV loss 20364138
nsv832253 CNV gain 17160897
nsv957219 CNV deletion 24416366
nsv975973 CNV duplication 23825009

Variation tolerance for DYNC2H1 Gene

Residual Variation Intolerance Score: 55.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.15; 96.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DYNC2H1 Gene

Human Gene Mutation Database (HGMD)
DYNC2H1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNC2H1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNC2H1 Gene

Disorders for DYNC2H1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for DYNC2H1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 3 with or without polydactyly
  • saldino-noonan syndrome
short-rib thoracic dysplasia 6 with or without polydactyly
  • majewski syndrome
asphyxiating thoracic dystrophy
  • jeune syndrome
polydactyly
  • postaxial polydactyly
achondrogenesis, type ii or hypochondrogenesis
  • achondrogenesis, type ii
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DYHC2_HUMAN
  • Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:19361615, ECO:0000269 PubMed:19442771, ECO:0000269 PubMed:22499340, ECO:0000269 PubMed:23456818}. 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 (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617). {ECO:0000269 PubMed:21211617}.

Relevant External Links for DYNC2H1

Genetic Association Database (GAD)
DYNC2H1
Human Genome Epidemiology (HuGE) Navigator
DYNC2H1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DYNC2H1
genes like me logo Genes that share disorders with DYNC2H1: view

No data available for Genatlas for DYNC2H1 Gene

Publications for DYNC2H1 Gene

  1. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. (PMID: 19442771) Dagoneau N. … Cormier-Daire V. (Am. J. Hum. Genet. 2009) 3 4 22 64
  2. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (PMID: 19361615) Merrill A.E. … Krakow D. (Am. J. Hum. Genet. 2009) 3 4 22 64
  3. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PMID: 9373155) Neesen J. … Schmid M. (Gene 1997) 2 3 4 64
  4. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (PMID: 23456818) Schmidts M. … Mitchison H.M. (J. Med. Genet. 2013) 3 4 64
  5. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. (PMID: 22499340) El Hokayem J. … Cormier-Daire V. (J. Med. Genet. 2012) 3 4 64

Products for DYNC2H1 Gene

Sources for DYNC2H1 Gene

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