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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:6928503-7177282 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 2.46 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    688 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107736
protein coding gene Chr9:6928503-7184446 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034317
protein coding gene Chr9:3775522-4040005 (-)
A/J MGP_AJ_G0034294
protein coding gene Chr9:3862341-4120287 (-)
AKR/J MGP_AKRJ_G0034224
protein coding gene Chr9:3758803-3996283 (-)
BALB/cJ MGP_BALBcJ_G0034288
protein coding gene Chr9:3634189-3887923 (-)
C3H/HeJ MGP_C3HHeJ_G0034000
protein coding gene Chr9:3962069-4220750 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034810
protein coding gene Chr9:3912226-4194044 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031748
protein coding gene Chr9:3216103-3454413 (-)
CAST/EiJ MGP_CASTEiJ_G0033327
protein coding gene Chr9:3946996-4211650 (-)
CBA/J MGP_CBAJ_G0033972
protein coding gene Chr9:4036733-4298307 (-)
DBA/2J MGP_DBA2J_G0034129
protein coding gene Chr9:3772580-4017509 (-)
FVB/NJ MGP_FVBNJ_G0034074
protein coding gene Chr9:3567142-3810366 (-)
LP/J MGP_LPJ_G0034216
protein coding gene Chr9:3834196-4093017 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034118
protein coding gene Chr9:4719247-5012282 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034829
protein coding gene Chr9:3738862-3998354 (-)
PWK/PhJ MGP_PWKPhJ_G0033031
protein coding gene Chr9:3926014-4172387 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032868
protein coding gene Chr9:4027626-4270742 (-)
WSB/EiJ MGP_WSBEiJ_G0033443
protein coding gene Chr9:3744675-4004540 (-)



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
    UniProt: Q8NCM8

  • Chr Location
    11q22.3; chr11:103109431-103479863 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Dync2h1 mouse models; 1 with human DYNC2H1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
less
  • Phenotype Summary
    29 phenotypes from 6 alleles in 8 genetic backgrounds
    3 phenotypes from multigenic genotypes
    26 images
    20 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 110350 NCBI Gene Model | MGI Sequence Detail 248780 C57BL/6J ±  kb
    transcript NM_029851 RefSeq | MGI Sequence Detail 13937 C57BL/6  
    polypeptide Q45VK7 UniProt | EBI | MGI Sequence Detail 4306 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 60
      cDNA 60

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-36312, MGI:1924297, MGI:2143052, MGI:2444284, MGI:2445078, MGI:5311337
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 15
      Phenotypes 20
    • 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:246522 Goetz SC, et al., The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. PLoS One. 2017;12(3):e0173399

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory