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Aliases for ERCC6L2 Gene

Aliases for ERCC6L2 Gene

  • Excision Repair Cross-Complementation Group 6 Like 2 2 3 5
  • 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
  • RAD26L 3 4
  • Excision Repair Cross-Complementation Group 6-Like 2 3
  • Putative Repair And Recombination Helicase RAD26L 3
  • Chromosome 9 Open Reading Frame 102 2
  • Stretch Responsive Protein 278 3
  • EC 3.6.4.- 4
  • EC 3.6.1 63
  • BMFS2 3
  • SR278 3

External Ids for ERCC6L2 Gene

Previous HGNC Symbols for ERCC6L2 Gene

  • C9orf102

Previous GeneCards Identifiers for ERCC6L2 Gene

  • GC09P098639

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 nucleic acid binding and 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

Regulatory Elements for ERCC6L2 Gene

Promoters for ERCC6L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERCC6L2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ERCC6L2 Gene

Chromosome:
9
Start:
95,875,618 bp from pter
End:
96,120,476 bp from pter
Size:
244,859 bases
Orientation:
Plus strand

Genomic View for ERCC6L2 Gene

Genes around ERCC6L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC6L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC6L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for ERCC6L2 Gene

Suggested Antigen Peptide Sequences for ERCC6L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5T890

UniProtKB/Swiss-Prot:

ER6L2_HUMAN :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the SNF2/RAD54 helicase family.
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
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:0003677 DNA binding IEA --
GO:0008026 ATP-dependent helicase activity IEA --
genes like me logo Genes that share ontologies with ERCC6L2: view

Phenotypes for ERCC6L2 Gene

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

Human Phenotype Ontology for ERCC6L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Animal Models , Transcription Factor Targets 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERCC6L2 Gene COMPARTMENTS Subcellular localization image for ERCC6L2 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ERCC6L2 Gene

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

Pathways & Interactions for ERCC6L2 Gene

SuperPathways for ERCC6L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ERCC6L2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ERCC6L2 Gene

Drugs & Compounds for ERCC6L2 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for ERCC6L2 Gene

This gene is overexpressed in Blymphocyte (55.9) and Heart (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ERCC6L2: view

Protein tissue co-expression partners for ERCC6L2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ERCC6L2 Gene

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 35
  • 99.57 (n)
  • 99.57 (a)
cow
(Bos Taurus)
Mammalia ERCC6L2 36
  • 64 (a)
OneToOne
ERCC6L2 35
  • 90.52 (n)
  • 89.72 (a)
dog
(Canis familiaris)
Mammalia ERCC6L2 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc6l2 16
Ercc6l2 35
  • 87.25 (n)
  • 89.4 (a)
Ercc6l2 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERCC6L2 36
  • 37 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ercc6l2 35
  • 86.93 (n)
  • 89.13 (a)
chicken
(Gallus gallus)
Aves CZH9ORF102 35
  • 75.27 (n)
  • 76.47 (a)
ERCC6L2 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERCC6L2 36
  • 77 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ERCC6L2 36
  • 33 (a)
OneToOne
si:ch211-248d20.2 35
  • 67.05 (n)
  • 69.18 (a)
worm
(Caenorhabditis elegans)
Secernentea csb-1 36
  • 16 (a)
ManyToMany
F53H4.6 36
  • 14 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD26 36
  • 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

(1) 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
rs2274654 - 95,928,855(-) TAGAG(A/G)CAAGG nc-transcript-variant, reference, missense
rs583716 -- 95,945,797(+) AAATA(C/T)ATAGT intron-variant
rs589458 -- 95,878,389(+) tattc(C/T)gatgg intron-variant
rs591486 -- 95,887,764(-) GAATC(C/T)ACTGA intron-variant
rs609296 -- 95,973,604(+) TCTTT(A/G)TAACA intron-variant

Variation tolerance for ERCC6L2 Gene

Residual Variation Intolerance Score: 49.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.39; 94.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERCC6L2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERCC6L2 Gene

Disorders for ERCC6L2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ERCC6L2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
bone marrow failure syndrome 2
  • bmfs2
pancytopenia-developmental delay syndrome
  • trilineage bone marrow failure-developmental delay syndrome
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for ERCC6L2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERCC6L2
genes like me logo Genes that share disorders with ERCC6L2: view

No data available for Genatlas for ERCC6L2 Gene

Publications for ERCC6L2 Gene

  1. 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 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. 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. 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
  5. 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

Products for ERCC6L2 Gene

Sources for ERCC6L2 Gene

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