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Ercc6l2 Gene Detail
Summary
  • Symbol
    Ercc6l2
  • Name
    excision repair cross-complementing rodent repair deficiency, complementation group 6 like 2
  • Synonyms
    0610007P08Rik, 1700019D06Rik, 9330134C04Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923501
    NCBI Gene: 76251
Location & Maps
more
  • Sequence Map
    Chr13:63815240-63900302 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      85063 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ERCC6L2, excision repair cross-complementation group 6 like 2
  • Vertebrate Orthologs
    7
  • Human Ortholog
    ERCC6L2, excision repair cross-complementation group 6 like 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BMFS2, C9orf102, RAD26L, SR278
  • Links
    NCBI Gene ID: 375748
    neXtProt AC: NX_Q5T890

  • Chr Location
    9q22.32; chr9:95875618-96120476 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ERCC6L2 associations

Human Disease Mouse Models
       Bone Marrow Failure Syndrome 2; BMFS2   OMIM: 615715
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    2
  • Genomic Mutations
    1 involving Ercc6l2
  • Incidental Mutations
    APF , CvDC
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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  • cDNA Data
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026114 VEGA Gene Model | MGI Sequence Detail 85063 C57BL/6J ±  kb
transcript OTTMUST00000087277 VEGA | MGI Sequence Detail 3436 Not Applicable  
polypeptide OTTMUSP00000047349 VEGA | MGI Sequence Detail 842 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    566 from dbSNP Build 142
Protein
Information
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  • UniProt
    10 Sequences
  • EC
  • InterPro Domains
    IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
    IPR029256 Helicase-associated putative binding domain
    IPR001650 Helicase, C-terminal
    IPR014001 Helicase superfamily 1/2, ATP-binding domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR000330 SNF2-related, N-terminal domain
Molecular
Reagents
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  • All nucleic 80
    cDNA 80

    Microarray probesets 8
Other
Accession IDs
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MGI:1916653, MGI:3689365
References
more
  • Summaries
    All 26
    Gene Ontology 2
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

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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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory