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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
Location & Maps
more
  • Sequence Map
    Chr15:76703553-76710559 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7007 bp   ±  kb flank

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

  • Chr Location
    8q24.3; chr8:144511284-144517827 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Rothmund-Thomson Syndrome; RTS   OMIM: 268400 View 3 models
       Baller-Gerold Syndrome; BGS   OMIM: 218600
Rapadilino Syndrome   OMIM: 266280
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
    33 phenotypes from 4 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    37 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    3
  • Gene trapped
    2
  • Radiation induced
    2
  • Targeted
    9
  • Genomic Mutations
    5 involving Recql4
  • Incidental Mutations
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
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 ENSMUSG00000033762 Ensembl Gene Model | MGI Sequence Detail 7007 C57BL/6J ±  kb
transcript ENSMUST00000036852 Ensembl | MGI Sequence Detail 3922 Not Applicable  
polypeptide ENSMUSP00000044363 Ensembl | MGI Sequence Detail 1216 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    34 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 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
Molecular
Reagents
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  • All nucleic 27
    cDNA 26
    Other 1

    Microarray probesets 3
References
more
  • Summaries
    All 39
    Developmental Gene Expression 3
    Diseases 3
    Gene Ontology 6
    Phenotypes 37
  • Earliest
    J:67348 Ohhata T, et al., Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4. Gene. 2000 Dec 31;261(2):251-8
  • Latest
    J:224702 Ng AJ, et al., The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation. PLoS Genet. 2015 Apr;11(4):e1005160

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
04/26/2016
MGI 6.03
The Jackson Laboratory