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Aliases for ERCC6L2 Gene

Aliases for ERCC6L2 Gene

  • Excision Repair Cross-Complementation Group 6-Like 2 2 3
  • RAD26L 3 4 6
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6-Like 2 2 3
  • DNA Repair And Recombination Protein RAD26-Like 3 4
  • C9orf102 3 4
  • BMFS2 3 6
  • Putative Repair And Recombination Helicase RAD26L 3
  • DNA Excision Repair Protein ERCC-6-Like 2 3
  • Chromosome 9 Open Reading Frame 102 2
  • Stretch Responsive Protein 278 3
  • EC 3.6.4.- 4
  • EC 3.6.1 64
  • SR278 3

External Ids for ERCC6L2 Gene

Previous Symbols for ERCC6L2 Gene

  • C9orf102

Summaries for ERCC6L2 Gene

Entrez Gene Summary for ERCC6L2 Gene

  • This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]

GeneCards Summary for ERCC6L2 Gene

ERCC6L2 (Excision Repair Cross-Complementation Group 6-Like 2) is a Protein Coding gene. Diseases associated with ERCC6L2 include bone marrow failure syndrome 2 and pancytopenia-developmental delay syndrome. GO annotations related to this gene include ATP-dependent helicase activity. An important paralog of this gene is ERCC6.

UniProtKB/Swiss-Prot for ERCC6L2 Gene

  • May be involved in early DNA damage response.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC6L2 Gene

Genomics for ERCC6L2 Gene

Genomic Location for ERCC6L2 Gene

Start:
95,875,618 bp from pter
End:
96,014,571 bp from pter
Size:
138,954 bases
Orientation:
Plus strand

Genomic View for ERCC6L2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERCC6L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC6L2 Gene

No data available for Regulatory Elements for ERCC6L2 Gene

Proteins for ERCC6L2 Gene

  • Protein details for ERCC6L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T890-ER6L2_HUMAN
    Recommended name:
    DNA excision repair protein ERCC-6-like 2
    Protein Accession:
    Q5T890
    Secondary Accessions:
    • A4D997
    • B2RTP8
    • Q49AM9
    • Q5T892
    • Q8N663
    • Q8N9D0
    • Q9NPM7

    Protein attributes for ERCC6L2 Gene

    Size:
    1561 amino acids
    Molecular mass:
    177127 Da
    Quaternary structure:
    • Isoform 2 interacts with NEK6.
    SequenceCaution:
    • Sequence=AAH22957.3; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB97543.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB97543.1; Type=Frameshift; Positions=135; Evidence={ECO:0000305}; Sequence=EAW92640.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ERCC6L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC6L2 Gene

Proteomics data for ERCC6L2 Gene at MOPED

Selected DME Specific Peptides for ERCC6L2 Gene

Post-translational modifications for ERCC6L2 Gene

Other Protein References for ERCC6L2 Gene

Domains for ERCC6L2 Gene

UniProtKB/Swiss-Prot:

ER6L2_HUMAN
Domain:
  • Contains 1 helicase ATP-binding domain.:
    • Q5T890
  • Contains 1 helicase C-terminal domain.:
    • Q5T890
Family:
  • Belongs to the SNF2/RAD54 helicase family.:
    • Q5T890
genes like me logo Genes that share domains with ERCC6L2: view

No data available for Gene Families for ERCC6L2 Gene

Function for ERCC6L2 Gene

Molecular function for ERCC6L2 Gene

UniProtKB/Swiss-Prot Function: May be involved in early DNA damage response.

Enzyme Numbers (IUBMB) for ERCC6L2 Gene

Gene Ontology (GO) - Molecular Function for ERCC6L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0005524 ATP binding IEA --
GO:0008026 ATP-dependent helicase activity IEA --
GO:0016787 hydrolase activity --
genes like me logo Genes that share ontologies with ERCC6L2: view

Phenotypes for ERCC6L2 Gene

GenomeRNAi human phenotypes for ERCC6L2:
genes like me logo Genes that share phenotypes with ERCC6L2: view

miRNA for ERCC6L2 Gene

miRTarBase miRNAs that target ERCC6L2

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ERCC6L2 Gene

Localization for ERCC6L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC6L2 Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Mitochondrion. Note=Colocalizes with NEK6 in the centrosome. In response to DNA damage, translocates from the cytosol to mitochondria and nucleus in a reactive oxygen species (ROS)-dependent manner.

Gene Ontology (GO) - Cellular Components for ERCC6L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton --
genes like me logo Genes that share ontologies with ERCC6L2: view

Pathways for ERCC6L2 Gene

SuperPathways for ERCC6L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ERCC6L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with ERCC6L2: view

No data available for Pathways by source for ERCC6L2 Gene

Transcripts for ERCC6L2 Gene

Unigene Clusters for ERCC6L2 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC6L2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5:
SP6: -
SP7: - - -

ExUns: 21 ^ 22 ^ 23a · 23b ^ 24
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for ERCC6L2 Gene

GeneLoc Exon Structure for
ERCC6L2
ECgene alternative splicing isoforms for
ERCC6L2

Expression for ERCC6L2 Gene

mRNA expression in normal human tissues for ERCC6L2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ERCC6L2 Gene

SOURCE GeneReport for Unigene cluster for ERCC6L2 Gene Hs.432364

mRNA Expression by UniProt/SwissProt for ERCC6L2 Gene

Q5T890-ER6L2_HUMAN
Tissue specificity: Expressed in bone marrow (at protein level).
genes like me logo Genes that share expressions with ERCC6L2: view

Orthologs for ERCC6L2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERCC6L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERCC6L2 36
  • 99.57 (n)
  • 99.57 (a)
cow
(Bos Taurus)
Mammalia ERCC6L2 36
  • 90.52 (n)
  • 89.72 (a)
ERCC6L2 37
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC6L2 37
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc6l2 36
  • 87.25 (n)
  • 89.4 (a)
Ercc6l2 16
Ercc6l2 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERCC6L2 37
  • 37 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ercc6l2 36
  • 86.93 (n)
  • 89.13 (a)
chicken
(Gallus gallus)
Aves CZH9ORF102 36
  • 75.27 (n)
  • 76.47 (a)
ERCC6L2 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERCC6L2 37
  • 77 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ERCC6L2 37
  • 33 (a)
OneToOne
si:ch211-248d20.2 36
  • 67.05 (n)
  • 69.18 (a)
worm
(Caenorhabditis elegans)
Secernentea csb-1 37
  • 16 (a)
ManyToMany
F53H4.6 37
  • 14 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD26 37
  • 18 (a)
OneToMany
Species with no ortholog for ERCC6L2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ERCC6L2 Gene

ENSEMBL:
Gene Tree for ERCC6L2 (if available)
TreeFam:
Gene Tree for ERCC6L2 (if available)

Paralogs for ERCC6L2 Gene

Paralogs for ERCC6L2 Gene

Selected SIMAP similar genes for ERCC6L2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ERCC6L2: view

Variants for ERCC6L2 Gene

Sequence variations from dbSNP and Humsavar for ERCC6L2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs14884 -- 96,018,324(-) CATAC(A/G)TCAAA utr-variant-3-prime
rs583716 -- 95,945,797(+) AAATA(C/T)ATAGT intron-variant
rs585223 -- 95,952,773(-) aacct(C/T)cgtct intron-variant
rs589458 -- 95,878,389(+) tattc(C/T)gatgg intron-variant
rs591486 -- 95,887,764(-) GAATC(C/T)ACTGA intron-variant

Relevant External Links for ERCC6L2 Gene

HapMap Linkage Disequilibrium report
ERCC6L2
Human Gene Mutation Database (HGMD)
ERCC6L2

No data available for Structural Variations from Database of Genomic Variants (DGV) for ERCC6L2 Gene

Disorders for ERCC6L2 Gene

(1) OMIM Diseases for ERCC6L2 Gene (615667)

UniProtKB/Swiss-Prot

ER6L2_HUMAN
  • Bone marrow failure syndrome 2 (BMFS2) [MIM:615715]: An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features. {ECO:0000269 PubMed:24507776}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with ERCC6L2: view

Publications for ERCC6L2 Gene

  1. Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome. (PMID: 20873783) Vaz Meirelles G. … Kobarg J. (J. Proteome Res. 2010) 3 4
  2. ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. (PMID: 24507776) Tummala H. … Dokal I. (Am. J. Hum. Genet. 2014) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for ERCC6L2 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ERCC6L2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for ERCC6L2
    • Block miRNA regulation of ERCC6L2 using miScript Target Protectors
    • antibodies-online proteins for ERCC6L2
    • antibodies-online antibodies for ERCC6L2
    • antibodies-online kits for ERCC6L2

    Sources for ERCC6L2 Gene

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