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

Gene ID: 375748, updated on 25-Nov-2021

Summary

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
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

See ERCC6L2 in Genome Data Viewer
Location:
9q22.32
Exon count:
27
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (95875632..96041092)
105.20201022 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 Sharpr-MPRA regulatory region 6609 Neighboring gene RNA, U2 small nuclear 46, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 289 Neighboring gene PARK7 pseudogene 2 Neighboring gene uncharacterized LOC105376159 Neighboring gene long intergenic non-protein coding RNA 92 Neighboring gene uncharacterized LOC158435 Neighboring gene uncharacterized LOC158434

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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

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_034107.1 RefSeqGene

    Range
    5074..147830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL161454
    Consensus CDS
    CCDS35072.1
    Related
    ENSP00000288985.8, ENST00000288985.12
    Conserved Domains (3) summary
    cd04508
    Location:2171
    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:59651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
  2. NM_001375291.1NP_001362220.1  DNA excision repair protein ERCC-6-like 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    Conserved Domains (4) summary
    cd04508
    Location:2171
    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:59651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:11171142
    VIGSSK; Helicase-associated putative binding domain, C-terminal
  3. NM_001375292.1NP_001362221.1  DNA excision repair protein ERCC-6-like 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    Related
    ENSP00000499575.1, ENST00000659728.1
    Conserved Domains (4) summary
    cd04508
    Location:2171
    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:59651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:11171142
    VIGSSK; Helicase-associated putative binding domain, C-terminal
  4. NM_001375293.1NP_001362222.1  DNA excision repair protein ERCC-6-like 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    Related
    ENSP00000507383.1, ENST00000683991.1
    Conserved Domains (4) summary
    cd04508
    Location:2171
    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:59651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:11171142
    VIGSSK; Helicase-associated putative binding domain, C-terminal
  5. NM_001375294.1NP_001362223.1  DNA excision repair protein ERCC-6-like 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    Conserved Domains (4) summary
    cd04508
    Location:2171
    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:59651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:11171142
    VIGSSK; Helicase-associated putative binding domain, C-terminal
  6. NM_020207.7NP_064592.3  DNA excision repair protein ERCC-6-like 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AL159167, AL161454
    Related
    ENSP00000499221.2, ENST00000653738.2
    Conserved Domains (4) summary
    cd04508
    Location:2171
    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:59651
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd18005
    Location:123371
    DEXHc_ERCC6L2; DEXH-box helicase domain of ERCC6L2
    pfam14773
    Location:11171142
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    95875632..96041092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014707.2XP_016870196.1  DNA excision repair protein ERCC-6-like 2 isoform X7

    Conserved Domains (1) summary
    pfam14773
    Location:478502
    VIGSSK; Helicase-associated putative binding domain, C-terminal
  2. XM_011518641.3XP_011516943.1  DNA excision repair protein ERCC-6-like 2 isoform X1

    Related
    ENSP00000507442.1, ENST00000683937.1
    Conserved Domains (5) summary
    cd04508
    Location:3282
    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:70661
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd00046
    Location:154314
    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:518632
    Helicase_C; Helicase conserved C-terminal domain
    pfam14773
    Location:10781102
    VIGSSK; Helicase-associated putative binding domain, C-terminal
  3. XM_011518646.3XP_011516948.1  DNA excision repair protein ERCC-6-like 2 isoform X4

    Related
    ENSP00000507810.1, ENST00000683350.1
    Conserved Domains (5) summary
    cd04508
    Location:3282
    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:70662
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd00046
    Location:154314
    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:518632
    Helicase_C; Helicase conserved C-terminal domain
    pfam14773
    Location:11291153
    VIGSSK; Helicase-associated putative binding domain, C-terminal
  4. XM_011518644.3XP_011516946.1  DNA excision repair protein ERCC-6-like 2 isoform X2

    Conserved Domains (3) summary
    COG0553
    Location:2364
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    pfam00271
    Location:220334
    Helicase_C; Helicase conserved C-terminal domain
    pfam14773
    Location:831855
    VIGSSK; Helicase-associated putative binding domain, C-terminal
  5. XM_011518650.3XP_011516952.1  DNA excision repair protein ERCC-6-like 2 isoform X8

    Conserved Domains (1) summary
    pfam14773
    Location:409433
    VIGSSK; Helicase-associated putative binding domain, C-terminal
  6. XM_011518648.3XP_011516950.1  DNA excision repair protein ERCC-6-like 2 isoform X6

    Conserved Domains (3) summary
    COG0553
    Location:4107
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    pfam00271
    Location:477
    Helicase_C; Helicase conserved C-terminal domain
    pfam14773
    Location:574598
    VIGSSK; Helicase-associated putative binding domain, C-terminal

RNA

  1. XR_001746291.2 RNA Sequence

    Related
    ENST00000661047.1
  2. XR_929789.2 RNA Sequence

    Related
    ENST00000683176.1

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.
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