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ERCC6L2 ERCC excision repair 6 like 2 [ Homo sapiens (human) ]

Gene ID: 375748, updated on 2-Nov-2024

Summary

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Official Symbol
ERCC6L2provided by HGNC
Official Full Name
ERCC excision repair 6 like 2provided by HGNC
Primary source
HGNC:HGNC:26922
See related
Ensembl:ENSG00000182150 MIM:615667; AllianceGenome:HGNC:26922
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEBO; BMFS2; SR278; RAD26L; C9orf102
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 2.2), ovary (RPKM 1.9) and 25 other tissues See more
Orthologs
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Genomic context

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See ERCC6L2 in Genome Data Viewer
Location:
9q22.32
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (95875691..96041092)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (108047061..108212474)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98637973..98803374)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ERCC6L2 antisense RNA 1 Neighboring gene uncharacterized LOC124902221 Neighboring gene Sharpr-MPRA regulatory region 6609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28645 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:98637828-98638702 Neighboring gene RNA, U2 small nuclear 46, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 289 Neighboring gene PARK7 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98785015-98785515 Neighboring gene uncharacterized LOC105376159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98788545-98789068 Neighboring gene long intergenic non-protein coding RNA 92 Neighboring gene uncharacterized LOC158435 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:98850190-98851389 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:98869639-98870212 Neighboring gene uncharacterized LOC158434

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution. Baccelli F, et al. Ann Hematol, 2023 Apr. PMID 36790458, Free PMC Article
  2. Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene. Järviaho T, et al. Clin Genet, 2018 Feb. PMID 28815563
  3. ERCC6L2-associated inherited bone marrow failure syndrome. Shabanova I, et al. Mol Genet Genomic Med, 2018 May. PMID 29633571, Free PMC Article
  4. Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants. Tummala H, et al. Proc Natl Acad Sci U S A, 2018 Jul 24. PMID 29987015, Free PMC Article
  5. ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population. Dardiotis E, et al. Neurol Sci, 2019 Jun. PMID 30879219

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ERCC6L2 mitigates replication stress and promotes centromere stability.
    Title: ERCC6L2 mitigates replication stress and promotes centromere stability.
  2. ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.
    Title: ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.
  3. Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
    Title: Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
  4. Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
    Title: Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
  5. Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining.
    Title: Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining.
  6. We report a direct association of a homozygous truncating germ line mutation in ERCC6L2 with a specific high-risk leukemia subtype
    Title: ERCC6L2 defines a novel entity within inherited acute myeloid leukemia.
  7. Study found that rs591486 was associated with an increased risk of amyotrophic lateral sclerosis. Moreover, we found that rs591486 ERCC6L2 influences the age of onset of amyotrophic lateral sclerosis with limb onset.
    Title: ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population.
  8. We report 2 cases of bone marrow failure with no extra-hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in ERCC6L2. Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described.
    Title: Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.
  9. ERCC6L2-associated disorder has recently been described. We identified an additional case through whole-exome sequencing. At the age of 9 years, the patient underwent whole exome sequencing and was discovered to have a homozygous stop mutation in ERCC6L2 (NCBI RefSeq NG_034107.1), c.1687C>T (p.Arg563*).
    Title: ERCC6L2-associated inherited bone marrow failure syndrome.
  10. The inherited bone marrow failure syndrome caused by biallelic variants in ERCC6L2 can be considered as a primary transcription deficiency rather than a DNA repair defect
    Title: Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Pancytopenia-developmental delay syndrome
MedGen: C3810350 OMIM: 615715 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37706, MGC30192, MGC43364

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent chromatin remodeler activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables helicase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to reactive oxygen species IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in interstrand cross-link repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in interstrand cross-link repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
DNA excision repair protein ERCC-6-like 2
Names
DNA repair and recombination protein RAD26-like
excision repair cross-complementation group 6 like 2
excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2
putative repair and recombination helicase RAD26L
stretch responsive protein 278

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034107.2 RefSeqGene

    Range
    5002..147758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010895.4 → NP_001010895.2  DNA excision repair protein ERCC-6-like 2 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL161454
    Consensus CDS
    CCDS35072.2
    UniProtKB/TrEMBL
    A0A5F9UKL4, A0A804HL79
    Related
    ENSP00000288985.8, ENST00000288985.13
    Conserved Domains (3) summary
    cd04508
    Location:21 → 71
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    COG0553
    Location:59 → 651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123 → 371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2

  2. NM_001375291.1 → NP_001362220.1  DNA excision repair protein ERCC-6-like 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    UniProtKB/TrEMBL
    A0A590UJV1
    Conserved Domains (4) summary
    cd04508
    Location:21 → 71
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    COG0553
    Location:59 → 651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123 → 371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:1117 → 1142
    VIGSSK; Helicase-associated putative binding domain, C-terminal

  3. NM_001375292.1 → NP_001362221.1  DNA excision repair protein ERCC-6-like 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    UniProtKB/TrEMBL
    A0A590UJV1
    Related
    ENSP00000499575.1, ENST00000659728.1
    Conserved Domains (4) summary
    cd04508
    Location:21 → 71
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    COG0553
    Location:59 → 651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123 → 371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:1117 → 1142
    VIGSSK; Helicase-associated putative binding domain, C-terminal

  4. NM_001375293.1 → NP_001362222.1  DNA excision repair protein ERCC-6-like 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    Consensus CDS
    CCDS94442.1
    UniProtKB/TrEMBL
    A0A590UJV1, A0A804HJ75
    Related
    ENSP00000507383.1, ENST00000683991.1
    Conserved Domains (4) summary
    cd04508
    Location:21 → 71
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    COG0553
    Location:59 → 651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123 → 371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:1117 → 1142
    VIGSSK; Helicase-associated putative binding domain, C-terminal

  5. NM_001375294.1 → NP_001362223.1  DNA excision repair protein ERCC-6-like 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    UniProtKB/TrEMBL
    A0A590UJV1
    Conserved Domains (4) summary
    cd04508
    Location:21 → 71
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    COG0553
    Location:59 → 651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123 → 371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:1117 → 1142
    VIGSSK; Helicase-associated putative binding domain, C-terminal

  6. NM_020207.7 → NP_064592.3  DNA excision repair protein ERCC-6-like 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    Consensus CDS
    CCDS94443.1
    UniProtKB/Swiss-Prot
    A0A590UJ07, A4D997, B2RTP8, Q49AM9, Q5T890, Q5T892, Q8N663, Q8N9D0, Q9NPM7
    UniProtKB/TrEMBL
    A0AAQ5BIG0
    Related
    ENSP00000499221.2, ENST00000653738.2
    Conserved Domains (4) summary
    cd04508
    Location:21 → 71
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    COG0553
    Location:59 → 651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123 → 371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:1117 → 1142
    VIGSSK; Helicase-associated putative binding domain, C-terminal

RNA

  1. NR_164677.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    95875691..96041092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423357.1 → XP_047279313.1  DNA excision repair protein ERCC-6-like 2 isoform X4

  2. XM_011518641.4 → XP_011516943.1  DNA excision repair protein ERCC-6-like 2 isoform X3

    UniProtKB/TrEMBL
    A0AAQ5BIG0
    Conserved Domains (5) summary
    cd04508
    Location:32 → 82
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    COG0553
    Location:70 → 661
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd00046
    Location:154 → 314
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    pfam00271
    Location:518 → 632
    Helicase_C; Helicase conserved C-terminal domain
    pfam14773
    Location:1078 → 1102
    VIGSSK; Helicase-associated putative binding domain, C-terminal

  3. XM_011518646.4 → XP_011516948.1  DNA excision repair protein ERCC-6-like 2 isoform X5

    UniProtKB/TrEMBL
    A0A590UJV1
    Related
    ENSP00000507810.1, ENST00000683350.1
    Conserved Domains (5) summary
    cd04508
    Location:32 → 82
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    COG0553
    Location:70 → 662
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd00046
    Location:154 → 314
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    pfam00271
    Location:518 → 632
    Helicase_C; Helicase conserved C-terminal domain
    pfam14773
    Location:1129 → 1153
    VIGSSK; Helicase-associated putative binding domain, C-terminal

  4. XM_047423361.1 → XP_047279317.1  DNA excision repair protein ERCC-6-like 2 isoform X8

    Related
    ENSP00000508232.1, ENST00000683128.1

  5. XM_047423359.1 → XP_047279315.1  DNA excision repair protein ERCC-6-like 2 isoform X6

    Related
    ENSP00000499338.1, ENST00000670016.1

  6. XM_047423360.1 → XP_047279316.1  DNA excision repair protein ERCC-6-like 2 isoform X7

    Related
    ENSP00000499236.1, ENST00000661047.1

  7. XM_047423362.1 → XP_047279318.1  DNA excision repair protein ERCC-6-like 2 isoform X9

    Related
    ENSP00000499453.1, ENST00000653324.2

  8. XM_047423356.1 → XP_047279312.1  DNA excision repair protein ERCC-6-like 2 isoform X1

  9. XM_011518648.4 → XP_011516950.1  DNA excision repair protein ERCC-6-like 2 isoform X2

    Conserved Domains (3) summary
    COG0553
    Location:4 → 107
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    pfam00271
    Location:4 → 77
    Helicase_C; Helicase conserved C-terminal domain
    pfam14773
    Location:574 → 598
    VIGSSK; Helicase-associated putative binding domain, C-terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    108047061..108212474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362933.1 → XP_054218908.1  DNA excision repair protein ERCC-6-like 2 isoform X11

  2. XM_054362931.1 → XP_054218906.1  DNA excision repair protein ERCC-6-like 2 isoform X10

  3. XM_054362934.1 → XP_054218909.1  DNA excision repair protein ERCC-6-like 2 isoform X12

    UniProtKB/TrEMBL
    A0A804HK79

  4. XM_054362938.1 → XP_054218913.1  DNA excision repair protein ERCC-6-like 2 isoform X15

  5. XM_054362936.1 → XP_054218911.1  DNA excision repair protein ERCC-6-like 2 isoform X13

    UniProtKB/TrEMBL
    A0A590UJA1

  6. XM_054362937.1 → XP_054218912.1  DNA excision repair protein ERCC-6-like 2 isoform X14

    UniProtKB/TrEMBL
    A0A590UJ12

  7. XM_054362939.1 → XP_054218914.1  DNA excision repair protein ERCC-6-like 2 isoform X16

    UniProtKB/TrEMBL
    A0A590UJK0

  8. XM_054362932.1 → XP_054218907.1  DNA excision repair protein ERCC-6-like 2 isoform X1

  9. XM_054362935.1 → XP_054218910.1  DNA excision repair protein ERCC-6-like 2 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001034155.1: Suppressed sequence

    Description
    NM_001034155.1: This RefSeq was temporarily suppressed because the CDS was partial.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T890.3 GenPept UniProtKB/Swiss-Prot:Q5T890

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