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Dhx30 Gene Detail
Summary
  • Symbol
    Dhx30
  • Name
    DExH-box helicase 30
  • Synonyms
    2810477H02Rik, C130058C04Rik, Ddx30, DEAH (Asp-Glu-Ala-His) box polypeptide 30, helG
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920081
    NCBI Gene: 72831
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:109913387-109946728 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 59.86 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    748 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920081
 protein coding gene Chr9:109913387-109946898 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035341
 protein coding gene Chr9:112214978-112250103 (-)
A/J MGP_AJ_G0035322
 protein coding gene Chr9:108138121-108171603 (-)
AKR/J MGP_AKRJ_G0035253
 protein coding gene Chr9:110820581-110853894 (-)
BALB/cJ MGP_BALBcJ_G0035317
 protein coding gene Chr9:107880850-107912793 (-)
C3H/HeJ MGP_C3HHeJ_G0035025
 protein coding gene Chr9:111308538-111342692 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035839
 protein coding gene Chr9:115258415-115294573 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032725
 protein coding gene Chr9:105363652-105394580 (-)
CAST/EiJ MGP_CASTEiJ_G0034331
 protein coding gene Chr9:111105631-111144748 (-)
CBA/J MGP_CBAJ_G0034992
 protein coding gene Chr9:119540926-119573696 (-)
DBA/2J MGP_DBA2J_G0035151
 protein coding gene Chr9:107600672-107635038 (-)
FVB/NJ MGP_FVBNJ_G0035098
 protein coding gene Chr9:106427813-106462579 (-)
LP/J MGP_LPJ_G0035230
 protein coding gene Chr9:112508402-112543245 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035138
 protein coding gene Chr9:120910362-120951841 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035859
 protein coding gene Chr9:111136055-111171265 (-)
PWK/PhJ MGP_PWKPhJ_G0034038
 protein coding gene Chr9:107837610-107871782 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033873
 protein coding gene Chr9:111217667-111252996 (-)
WSB/EiJ MGP_WSBEiJ_G0034452
 protein coding gene Chr9:111016428-111051571 (-)



Homology
more
  • Human Ortholog
    DHX30, DExH-box helicase 30
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DHX30, DExH-box helicase 30
  • Synonyms
    DDX30, NEDMIAL, RETCOR
  • Links
    NCBI Gene ID: 22907
    neXtProt AC: NX_Q7L2E3
    UniProt: Q7L2E3

  • Chr Location
    3p21.31; chr3:47802909-47850195 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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.
Mice homozygous for a gene trapped allele exhibit complete embryonic lethality associated with embryonic growth retardation, failure of initiation of embryo turning, and absence of organized somites and neural tube formation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    9
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    783
  • Tissues
    68
  • cDNA Data
    198
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 72831 NCBI Gene Model | MGI Sequence Detail 33342 C57BL/6J ±  kb
    transcript NM_001252682 RefSeq | MGI Sequence Detail 4228 C57BL/6  
    polypeptide Q99PU8 UniProt | EBI | MGI Sequence Detail 1217 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      11 Sequences
    • Protein Ontology
      PR:000030401 ATP-dependent RNA helicase DHX30
      (term hierarchy)
    • EC
      3.6.4.13
    • InterPro Domains
      IPR011709 DEAD-box helicase, OB fold
      IPR011545 DEAD/DEAH box helicase domain
      IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
      IPR007502 Helicase-associated domain
      IPR001650 Helicase, C-terminal domain-like
      IPR014001 Helicase superfamily 1/2, ATP-binding domain
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    • GlyGen
      Q99PU8 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 200
      cDNA 198
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2142961, MGI:2143190, MGI:2444897
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 4
      Gene Ontology 9
      Phenotypes 13
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory