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

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; 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

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ERCC6L2 mitigates replication stress and promotes centromere stability.
Title: ERCC6L2 mitigates replication stress and promotes centromere stability.
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.
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.
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.
Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining.
Title: Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining.
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.
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.
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.
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.
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

RH93909 (e-PCR)
- UniSTS:91653

D9S1628 (e-PCR)
- UniSTS:153620

RH103581 (e-PCR)
- UniSTS:97906

RH94175 (e-PCR)
- UniSTS:84888

U57804 (e-PCR)
- UniSTS:21658

SHGC-57584 (e-PCR)
- UniSTS:32160

SHGC-30570 (e-PCR)
- UniSTS:80091

STS-N32566 (e-PCR)
- UniSTS:32232

SHGC-57426 (e-PCR)
- UniSTS:32507

MARC_14930-14931:1032547547:3 (e-PCR)
- UniSTS:267775

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

NG_034107.2 RefSeqGene

Range

5002..147758

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

95875691..96041092

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423357.1 → XP_047279313.1 DNA excision repair protein ERCC-6-like 2 isoform X4
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
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
XM_047423361.1 → XP_047279317.1 DNA excision repair protein ERCC-6-like 2 isoform X8

Related

ENSP00000508232.1, ENST00000683128.1
XM_047423359.1 → XP_047279315.1 DNA excision repair protein ERCC-6-like 2 isoform X6

Related

ENSP00000499338.1, ENST00000670016.1
XM_047423360.1 → XP_047279316.1 DNA excision repair protein ERCC-6-like 2 isoform X7

Related

ENSP00000499236.1, ENST00000661047.1
XM_047423362.1 → XP_047279318.1 DNA excision repair protein ERCC-6-like 2 isoform X9

Related

ENSP00000499453.1, ENST00000653324.2
XM_047423356.1 → XP_047279312.1 DNA excision repair protein ERCC-6-like 2 isoform X1
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

NC_060933.1 Alternate T2T-CHM13v2.0

Range

108047061..108212474

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362933.1 → XP_054218908.1 DNA excision repair protein ERCC-6-like 2 isoform X11
XM_054362931.1 → XP_054218906.1 DNA excision repair protein ERCC-6-like 2 isoform X10
XM_054362934.1 → XP_054218909.1 DNA excision repair protein ERCC-6-like 2 isoform X12

UniProtKB/TrEMBL

A0A804HK79
XM_054362938.1 → XP_054218913.1 DNA excision repair protein ERCC-6-like 2 isoform X15
XM_054362936.1 → XP_054218911.1 DNA excision repair protein ERCC-6-like 2 isoform X13

UniProtKB/TrEMBL

A0A590UJA1
XM_054362937.1 → XP_054218912.1 DNA excision repair protein ERCC-6-like 2 isoform X14

UniProtKB/TrEMBL

A0A590UJ12
XM_054362939.1 → XP_054218914.1 DNA excision repair protein ERCC-6-like 2 isoform X16

UniProtKB/TrEMBL

A0A590UJK0
XM_054362932.1 → XP_054218907.1 DNA excision repair protein ERCC-6-like 2 isoform X1
XM_054362935.1 → XP_054218910.1 DNA excision repair protein ERCC-6-like 2 isoform X2