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Dync2h1 Gene Detail
Summary
  • Symbol
    Dync2h1
  • Name
    dynein cytoplasmic 2 heavy chain 1
  • Synonyms
    4432416O06Rik, b2b414Clo, D030010H02Rik, D330044F14Rik, DHC1b, DHC2, Dnchc2
  • Feature Type
    protein coding gene
  • IDs
    MGI:107736
    NCBI Gene: 110350
  • Gene Overview
    MyGene.info: DYNC2H1
Location & Maps
more
  • Sequence Map
    Chr9:6928503-7184446 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      255944 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 2.46 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    DYNC2H1, dynein cytoplasmic 2 heavy chain 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DYNC2H1, dynein cytoplasmic 2 heavy chain 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATD3, DHC1b, DHC2, DNCH2, DYH1B, hdhc11, SRPS2B, SRTD3
  • Links
    NCBI Gene ID: 79659
    neXtProt AC: NX_Q8NCM8

  • Chr Location
    11q21-q22.1; chr11:103109431-103479863 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Dync2h1 mouse models

Human Disease Mouse Models
       Pulmonary Atresia with Ventricular Septal Defect   OMIM: 178370 View 1 model
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly; SRTD3   OMIM: 613091 View 1 model
Vater/Vacterl Association   OMIM: 192350 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 5 alleles in 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    26 images
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Chemically induced (ENU)
    4
  • Gene trapped
    6
  • Targeted
    1
  • Transgenic
    1
  • Incidental Mutations
Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, micrognathia, and cardiac, renal, airway and eye defects may be observed.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033489 VEGA Gene Model | MGI Sequence Detail 255944 C57BL/6J ±  kb
transcript OTTMUST00000084209 VEGA | MGI Sequence Detail 13103 Not Applicable  
polypeptide OTTMUSP00000045354 VEGA | MGI Sequence Detail 4313 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    689 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000006775 cytoplasmic dynein 2 heavy chain 1
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR011704 ATPase, dynein-related, AAA domain
    IPR026983 Dynein heavy chain
    IPR024743 Dynein heavy chain, coiled coil stalk
    IPR004273 Dynein heavy chain domain
    IPR013594 Dynein heavy chain, domain-1
    IPR013602 Dynein heavy chain, domain-2
    IPR024317 Dynein heavy chain, P-loop containing D4 domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
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  • All nucleic 59
    cDNA 59

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-36312, MGI:1924297, MGI:2143052, MGI:2444284, MGI:2445078, MGI:5311337
References
more
  • Summaries
    All 55
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 13
    Phenotypes 19
  • Earliest
    J:34934 Vaughan KT, et al., Multiple mouse chromosomal loci for dynein-based motility. Genomics. 1996 Aug 15;36(1):29-38
  • Latest
    J:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory