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

    Gene ID: 375748, updated on 27-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
    mouse all
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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
    • 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 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 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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