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Aliases for ERCC6L2 Gene

Aliases for ERCC6L2 Gene

  • ERCC Excision Repair 6 Like 2 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6-Like 2 2 3
  • Excision Repair Cross-Complementation Group 6 Like 2 2 3
  • DNA Repair And Recombination Protein RAD26-Like 3 4
  • C9orf102 3 4
  • RAD26L 3 4
  • 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
  • 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 (ERCC Excision Repair 6 Like 2) is a Protein Coding gene. Diseases associated with ERCC6L2 include Bone Marrow Failure Syndrome 2 and Microcephaly. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent helicase activity. An important paralog of this gene is PGBD3.

UniProtKB/Swiss-Prot for ERCC6L2 Gene

  • May be involved in early DNA damage response.

Additional gene information for ERCC6L2 Gene

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

Genomics for ERCC6L2 Gene

GeneHancer (GH) Regulatory Elements for ERCC6L2 Gene

Promoters and enhancers for ERCC6L2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J095874 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 725.2 +0.4 434 3.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 ZNF548 SP3 ERCC6L2 LINC00476 ENSG00000271155 ZNF510 LOC158435 ENSG00000271659 GC09P095906
GH09J095503 Promoter/Enhancer 3 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 111.5 -364.8 -364845 14.3 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 SP3 NFYC PTCH1 ERCC6L2 ENSG00000271155 EIF4BP3 LINC00476 ENSG00000271659 RPS26P37 LOC105376158 ENSG00000230815 ENSG00000285269
GH09J096416 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 52.6 +543.4 543359 5.4 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ZNF367 PIR44583 ERCC6L2 ENSG00000271155 ZNF782 ZNF322P1 EIF4BP3 ENSG00000254633 NUTM2G MFSD14C
GH09J096617 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 22.3 +744.2 744159 4.2 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 FOS SP5 CDC14B ERCC6L2 ZNF322P1 LINC00476 LOC105376163
GH09J095315 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.6 -558.9 -558858 3.5 PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 FANCC ERCC6L2 LOC100132077 LOC643342 LOC105376155
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERCC6L2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ERCC6L2 Gene

Genomic Locations for ERCC6L2 Gene
244,859 bases
Plus strand
138,943 bases
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:
    Recommended name:
    DNA excision repair protein ERCC-6-like 2
    Protein Accession:
    Secondary Accessions:
    • A4D997
    • B2RTP8
    • Q49AM9
    • Q5T892
    • Q8N663
    • Q8N9D0
    • Q9NPM7

    Protein attributes for ERCC6L2 Gene

    1561 amino acids
    Molecular mass:
    177127 Da
    Quaternary structure:
    • Isoform 2 interacts with NEK6.
    • 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


neXtProt entry for ERCC6L2 Gene

Post-translational modifications for ERCC6L2 Gene

Antibody Products

  • Boster Bio Antibodies for ERCC6L2

No data available for DME Specific Peptides for ERCC6L2 Gene

Domains & Families for ERCC6L2 Gene

Gene Families for ERCC6L2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ERCC6L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SNF2/RAD54 helicase family.
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with ERCC6L2: view

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

Phenotypes From GWAS Catalog 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:0004386 helicase activity IEA --
GO:0005515 protein binding IPI --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ERCC6L2: view
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

miRNA for ERCC6L2 Gene

miRTarBase miRNAs that target ERCC6L2

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERCC6L2 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERCC6L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 24507776
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IMP 24507776
GO:0005739 mitochondrion IMP 24507776
GO:0005813 colocalizes_with centrosome IDA 20873783
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0034614 cellular response to reactive oxygen species IMP 24507776
GO:0036297 interstrand cross-link repair IMP 24507776
genes like me logo Genes that share ontologies with ERCC6L2: view

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:

Clone Products

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: -
SP6: -
SP7: - - -

ExUns: 21 ^ 22 ^ 23a · 23b ^ 24
SP5: -

Relevant External Links for ERCC6L2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ERCC6L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for ERCC6L2 Gene

Protein tissue co-expression partners for ERCC6L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERCC6L2 Gene:


SOURCE GeneReport for Unigene cluster for ERCC6L2 Gene:


mRNA Expression by UniProt/SwissProt for ERCC6L2 Gene:

Tissue specificity: Expressed in bone marrow (at protein level).

Evidence on tissue expression from TISSUES for ERCC6L2 Gene

  • Liver(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC6L2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • immune
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • head
  • skull
  • blood
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with ERCC6L2: view

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
(Pan troglodytes)
Mammalia ERCC6L2 33
  • 99.57 (n)
(Bos Taurus)
Mammalia ERCC6L2 34 33
  • 90.52 (n)
(Mus musculus)
Mammalia Ercc6l2 16 34 33
  • 87.25 (n)
(Rattus norvegicus)
Mammalia Ercc6l2 33
  • 86.93 (n)
(Canis familiaris)
Mammalia ERCC6L2 34
  • 64 (a)
(Monodelphis domestica)
Mammalia ERCC6L2 34
  • 37 (a)
(Gallus gallus)
Aves CZH9ORF102 33
  • 75.27 (n)
ERCC6L2 34
  • 55 (a)
(Anolis carolinensis)
Reptilia ERCC6L2 34
  • 77 (a)
(Danio rerio)
Actinopterygii si:ch211-248d20.2 33
  • 67.05 (n)
ERCC6L2 34
  • 33 (a)
(Caenorhabditis elegans)
Secernentea csb-1 34
  • 16 (a)
F53H4.6 34
  • 14 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD26 34
  • 18 (a)
Species where no ortholog for ERCC6L2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for ERCC6L2 (if available)
Gene Tree for ERCC6L2 (if available)
Evolutionary constrained regions (ECRs) for ERCC6L2: view image

Paralogs for ERCC6L2 Gene

Paralogs for ERCC6L2 Gene

(1) SIMAP similar genes for ERCC6L2 Gene using alignment to 5 proteins:

  • F2Z2R4_HUMAN
  • H0Y3T7_HUMAN
  • S4R327_HUMAN
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 Variation AA Info Type
rs147948835 pathogenic, Bone marrow failure syndrome 2 95,955,996(+) C/T 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs886037662 pathogenic, Bone marrow failure syndrome 2 95,921,217(+) CAAACA/CA 5_prime_UTR_variant, coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant
rs778926161 likely-pathogenic, not provided 95,876,057(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs139286981 likely-benign, not provided 95,876,059(+) G/A/C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs1000028693 -- 95,967,683(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ERCC6L2 Gene

Variant ID Type Subtype PubMed ID
nsv524894 CNV loss 19592680
nsv524266 CNV loss 19592680
nsv1147999 OTHER inversion 26484159
nsv1035723 CNV loss 25217958
esv3573300 CNV loss 25503493
esv3445465 CNV insertion 20981092
esv3395779 CNV insertion 20981092
esv3355820 CNV insertion 20981092
esv3304940 CNV mobile element insertion 20981092
esv2676659 CNV deletion 23128226

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)

Additional Variant Information for ERCC6L2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC6L2 Gene

Disorders for ERCC6L2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
bone marrow failure syndrome 2
  • bmfs2
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for 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 (American journal of human genetics 2014) 3 4 58
  2. 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 (Journal of proteome research 2010) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. (PMID: 27185855) Zhang S … de Villartay JP (The Journal of experimental medicine 2016) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for ERCC6L2 Gene

Sources for ERCC6L2 Gene

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