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Recql4 Gene Detail
Summary
  • Symbol
    Recql4
  • Name
    RecQ protein-like 4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1931028
    NCBI Gene: 79456
  • Gene Overview
    MyGene.info: RECQL4
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:76703553-76710548 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 36.28 cM, cytoband D3
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    34 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1931028
protein coding gene Chr15:76703553-76710638 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022009
protein coding gene Chr15:76805643-76813081 (-)
A/J MGP_AJ_G0021967
protein coding gene Chr15:73990840-73997615 (-)
AKR/J MGP_AKRJ_G0021950
protein coding gene Chr15:75999437-76008656 (-)
BALB/cJ MGP_BALBcJ_G0021976
protein coding gene Chr15:74016604-74023379 (-)
C3H/HeJ MGP_C3HHeJ_G0021748
protein coding gene Chr15:76046723-76053498 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022416
protein coding gene Chr15:79666810-79673748 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019945
protein coding gene Chr15:70649959-70656910 (-)
CAST/EiJ MGP_CASTEiJ_G0021267
protein coding gene Chr15:76853012-76859798 (-)
CBA/J MGP_CBAJ_G0021715
protein coding gene Chr15:82188456-82195231 (-)
DBA/2J MGP_DBA2J_G0021840
protein coding gene Chr15:73529129-73536040 (-)
FVB/NJ MGP_FVBNJ_G0021820
protein coding gene Chr15:72587101-72594639 (-)
LP/J MGP_LPJ_G0021911
protein coding gene Chr15:76886756-76893531 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021845
protein coding gene Chr15:87535995-87543545 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022436
protein coding gene Chr15:76274057-76280838 (-)
PWK/PhJ MGP_PWKPhJ_G0021008
protein coding gene Chr15:73695269-73702031 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020848
protein coding gene Chr15:75969989-75978813 (-)
WSB/EiJ MGP_WSBEiJ_G0021319
protein coding gene Chr15:76365328-76372103 (-)



Homology
more
  • Human Ortholog
    RECQL4, RecQ like helicase 4
  • Vertebrate Orthologs
    8
  • Human Ortholog
    RECQL4, RecQ like helicase 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    RECQ4
  • Links
    NCBI Gene ID: 9401
    neXtProt AC: NX_O94761
    UniProt: O94761

  • Chr Location
    8q24.3; chr8:144511284-144517833 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Recql4 mouse models; 3 with human RECQL4 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 4 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    39 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.
Homozygous loss of exons 5-8 causes embryonic death. Deletion of exon 13 causes neo- and postnatal lethality, stunted growth, skin, hair and bone defects, tissue hypoplasia and tooth dysgenesis. Mice lacking exons 9-13 show palate and limb defects, aneuploidy, poikiloderma and cancer predisposition.
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
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 ENSMUSG00000033762 Ensembl Gene Model | MGI Sequence Detail 6996 C57BL/6J ±  kb
    transcript ENSMUST00000036852 Ensembl | MGI Sequence Detail 3896 Not Applicable  
    polypeptide ENSMUSP00000044363 Ensembl | MGI Sequence Detail 1216 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • EC
    • InterPro Domains
      IPR011545 DEAD/DEAH box helicase domain
      IPR004589 DNA helicase, ATP-dependent, RecQ type
      IPR021110 DNA replication/checkpoint protein
      IPR001650 Helicase, C-terminal
      IPR014001 Helicase superfamily 1/2, ATP-binding domain
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR001878 Zinc finger, CCHC-type
      IPR036875 Zinc finger, CCHC-type superfamily
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 26
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 7
      Phenotypes 39
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory