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] See more...

Aliases for ERCC6L2 Gene

Aliases for ERCC6L2 Gene

  • ERCC Excision Repair 6 Like 2 2 3 5
  • RAD26L 2 3 4
  • 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
  • DNA Excision Repair Protein ERCC-6-Like 2 3 4
  • C9orf102 3 4
  • HEBO 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
  • FLJ37706 2
  • EC 3.6.1 51
  • ERCC6L2 5
  • BMFS2 3
  • SR278 3

External Ids for ERCC6L2 Gene

Previous HGNC Symbols for ERCC6L2 Gene

  • C9orf102

Previous GeneCards Identifiers for ERCC6L2 Gene

  • GC09P098639
  • GC09P095875

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 Basal Cell Nevus Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent helicase activity.

UniProtKB/Swiss-Prot Summary for ERCC6L2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERCC6L2 Gene

Genomics for ERCC6L2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERCC6L2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERCC6L2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERCC6L2

Genomic Locations for ERCC6L2 Gene

Latest Assembly
chr9:95,871,264-96,121,154
(GRCh38/hg38)
Size:
249,891 bases
Orientation:
Plus strand

Previous Assembly
chr9:98,637,973-98,803,374
(GRCh37/hg19 by Entrez Gene)
Size:
165,402 bases
Orientation:
Plus strand

chr9:98,637,983-98,776,842
(GRCh37/hg19 by Ensembl)
Size:
138,860 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB97543.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB97543.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=EAW92640.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ERCC6L2 Gene

    Alternative splice isoforms for ERCC6L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC6L2 Gene

Selected DME Specific Peptides for ERCC6L2 Gene

Q5T890:
  • RLDGSTK
  • GLGKTVQ

Post-translational modifications for ERCC6L2 Gene

Domains & Families for ERCC6L2 Gene

Gene Families for ERCC6L2 Gene

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

Protein Domains for ERCC6L2 Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
  • SNF2 related domain
ProtoNet:

Suggested Antigen Peptide Sequences for ERCC6L2 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 9 open reading frame 102 (A6PVP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T890

UniProtKB/Swiss-Prot:

ER6L2_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
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:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 32296183
GO:0005524 ATP binding 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

miRNA for ERCC6L2 Gene

miRTarBase miRNAs that target ERCC6L2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC6L2

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
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 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
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

PathCards logo

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

mRNA/cDNA for ERCC6L2 Gene

7 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC6L2

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

Expression for ERCC6L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERCC6L2

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).

Evidence on tissue expression from TISSUES for ERCC6L2 Gene

  • Nervous system(4.3)
  • Liver(4.2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • skull
General:
  • 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

Primer products for research

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 30
  • 99.57 (n)
Cow
(Bos Taurus)
Mammalia ERCC6L2 30 31
  • 90.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ercc6l2 30 17 31
  • 87.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ercc6l2 30
  • 86.93 (n)
Dog
(Canis familiaris)
Mammalia ERCC6L2 31
  • 64 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ERCC6L2 31
  • 37 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CZH9ORF102 30
  • 75.27 (n)
ERCC6L2 31
  • 55 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ERCC6L2 31
  • 77 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-248d20.2 30
  • 67.05 (n)
ERCC6L2 31
  • 33 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea csb-1 31
  • 16 (a)
ManyToMany
F53H4.6 31
  • 14 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD26 31
  • 18 (a)
OneToMany
Species where no ortholog for ERCC6L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ERCC6L2: view image

Paralogs for ERCC6L2 Gene

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

  • ER6L2_HUMAN
  • F2Z2R4_HUMAN
  • H0Y3T7_HUMAN
  • H7BXQ9_HUMAN
  • S4R327_HUMAN
genes like me logo Genes that share paralogs with ERCC6L2: view

No data available for Paralogs for ERCC6L2 Gene

Variants for ERCC6L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERCC6L2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs1225802415 Likely Benign: not provided 95,941,450(+) C/T
NM_020207.7(ERCC6L2):c.1752-4C>T
INTRON
rs139286981 Benign/Likely Benign: not provided 95,876,059(+) G/C
NM_020207.5(ERCC6L2):c.54G>C (p.Gln18His)
MISSENSE
rs146075543 Benign: not provided 95,881,201(+) C/G
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs147361064 Likely Benign: not provided 95,921,240(+) C/T
NM_020207.7(ERCC6L2):c.1224C>T (p.Asp408=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs147747872 Likely Benign: not provided 95,907,209(+) G/A
NM_020207.7(ERCC6L2):c.726G>A (p.Arg242=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ERCC6L2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)
ERCC6L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC6L2

SNP Genotyping and Copy Number Assays for research

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

Disorders for ERCC6L2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ERCC6L2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
bone marrow failure syndrome 2
  • bmfs2
basal cell nevus syndrome
  • bcns
leukemia, acute myeloid
  • aml
expressive language disorder
  • developmental expressive language disorder
microcephaly
  • microcephalus
- 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 variants 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) 2 3 4 74
  2. 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) 2 3 74
  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 (Journal of proteome research 2010) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ERCC6L2 Gene

Sources for ERCC6L2 Gene