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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
External Ids for ERCC6L2 Gene
- HGNC: 26922
- NCBI Entrez Gene: 375748
- Ensembl: ENSG00000182150
- OMIM®: 615667
- UniProtKB/Swiss-Prot: Q5T890
Previous HGNC Symbols for ERCC6L2 Gene
- C9orf102
Previous GeneCards Identifiers for ERCC6L2 Gene
- GC09P098639
- GC09P095875
Summaries 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
-
May be involved in early DNA damage response.
Additional gene information for ERCC6L2 Gene
- HGNC (26922)
- NCBI Entrez Gene (375748)
- Ensembl (ENSG00000182150)
- OMIM® (615667)
- UniProtKB/Swiss-Prot (Q5T890)
- Open Targets Platform(ENSG00000182150)
- Monarch Initiative
- Search for ERCC6L2 at DataMed
- Search for ERCC6L2 at HumanCyc
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:
-
- 9q22.32 by HGNC
- 9q22.32 by Entrez Gene
- 9q22.32 by Ensembl
ERCC6L2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ERCC6L2 Gene
Selected DME Specific Peptides for ERCC6L2 Gene
- Q5T890:
-
- RLDGSTK
- GLGKTVQ
Post-translational modifications for ERCC6L2 Gene
- Phosphorylated by NEK6.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ERCC6L2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for ERCC6L2
- Novus Biologicals Antibodies for ERCC6L2
- Invitrogen Antibodies for ERCC6L2 (AFLGC-Ercc6l2)
-
Boster Bio Antibodies for ERCC6L2
-
Custom Antibody ServicesProSci Antibodies for ERCC6L2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ERCC6L2
Protein products for research
-
OriGene Purified Proteins for ERCC6L2
- Search Origene for MassSpec and Protein Over-expression Lysates for ERCC6L2
- Origene Custom Protein Services for ERCC6L2
Assay products for research
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- Family:
-
- Belongs to the SNF2/RAD54 helicase family.
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
| 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 | -- |
Phenotypes for ERCC6L2 Gene
- GenomeRNAi human phenotypes for ERCC6L2:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ERCC6L2 - Starting at $85 >
- * ERCC6L2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC6L2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERCC6L2
miRNA for ERCC6L2 Gene
- miRTarBase miRNAs that target ERCC6L2
-
- hsa-miR-335-5p (MIRT017550)
- hsa-miR-3162-3p (MIRT662163)
- hsa-miR-6771-3p (MIRT662164)
- hsa-miR-6513-5p (MIRT671387)
- hsa-miR-887-5p (MIRT671388)
- hsa-miR-3913-5p (MIRT671389)
- hsa-miR-3122 (MIRT671390)
- hsa-miR-450a-1-3p (MIRT671391)
- hsa-miR-6780a-5p (MIRT671392)
- hsa-miR-6779-5p (MIRT671393)
- hsa-miR-3689c (MIRT671394)
- hsa-miR-3689b-3p (MIRT671395)
- hsa-miR-3689a-3p (MIRT671396)
- hsa-miR-30b-3p (MIRT671397)
- hsa-miR-1273h-5p (MIRT671398)
- hsa-miR-6788-5p (MIRT671399)
- hsa-miR-30c-2-3p (MIRT671400)
- hsa-miR-30c-1-3p (MIRT671401)
- hsa-miR-7977 (MIRT671402)
- hsa-miR-6799-5p (MIRT671403)
- hsa-miR-6883-5p (MIRT671404)
- hsa-miR-6785-5p (MIRT671405)
- hsa-miR-4728-5p (MIRT671406)
- hsa-miR-149-3p (MIRT671407)
- hsa-miR-7106-5p (MIRT671408)
- hsa-miR-7154-3p (MIRT671409)
- hsa-miR-5004-5p (MIRT671410)
- hsa-miR-383-3p (MIRT671411)
- hsa-miR-940 (MIRT671412)
- hsa-miR-6893-5p (MIRT671413)
- hsa-miR-6808-5p (MIRT671414)
- hsa-miR-3714 (MIRT671415)
- hsa-miR-122-3p (MIRT761275)
- hsa-miR-1915-3p (MIRT763414)
- hsa-miR-1976 (MIRT763556)
- hsa-miR-2276-3p (MIRT763975)
- hsa-miR-3194-3p (MIRT765470)
- hsa-miR-3653-5p (MIRT766352)
- hsa-miR-4279 (MIRT768302)
- hsa-miR-4722-3p (MIRT771471)
- hsa-miR-4726-3p (MIRT771647)
- hsa-miR-5001-3p (MIRT772904)
- hsa-miR-6727-3p (MIRT777873)
- hsa-miR-6747-3p (MIRT778262)
- hsa-miR-6764-5p (MIRT778503)
- hsa-miR-6778-3p (MIRT778802)
- hsa-miR-6791-3p (MIRT779283)
- hsa-miR-6796-3p (MIRT779354)
- hsa-miR-6829-3p (MIRT779971)
- hsa-miR-6836-3p (MIRT780045)
- hsa-miR-6840-3p (MIRT780121)
- hsa-miR-6890-3p (MIRT781137)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERCC6L2
- Browse OriGene Inhibitory RNA Products For ERCC6L2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC6L2
Clone products for research
- Applied Biological Materials (abm): Clones for ERCC6L2 - Starting at $45 >
- * ERCC6L2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209136
- MG213567
- MR209136
- MR209136L3
- MR209136L4
- MR213567
- MR213567L3
- MR213567L4
- RC205796
- RC205796L3
- RC205796L4
- RC213060
- RC213060L1
- RC213060L2
- RC213060L3
- RC213060L4
- RG205796
- RG213060
- MR209136L3V
- MR209136L4V
- MR213567L3V
- MR213567L4V
- RC205796L3V
- RC205796L4V
- RC213060L1V
- RC213060L2V
- RC213060L3V
- RC213060L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ERCC6L2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC6L2
Cell Lines for research
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 1 |
- Nucleoplasm (3)
- Cytosol (2)
| 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 |
Pathways & Interactions for ERCC6L2 Gene
Interacting Proteins for ERCC6L2 Gene
Selected Interacting proteins:
Q5T890-ER6L2_HUMAN
ENSP00000288985
for ERCC6L2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ERCC6L2
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for ERCC6L2 Gene
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 :
-
- ENST00000288985 4564 nts (view in UCSC)
- ENST00000402838 3257 nts (view in UCSC)
- ENST00000426805 498 nts (view in UCSC)
- ENST00000456993 2167 nts (view in UCSC)
- ENST00000466840 3586 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ERCC6L2 - Starting at $85 >
- * ERCC6L2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC6L2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERCC6L2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERCC6L2
- Browse OriGene Inhibitory RNA Products For ERCC6L2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC6L2
Clone products for research
- Applied Biological Materials (abm): Clones for ERCC6L2 - Starting at $45 >
- * ERCC6L2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209136
- MG213567
- MR209136
- MR209136L3
- MR209136L4
- MR213567
- MR213567L3
- MR213567L4
- RC205796
- RC205796L3
- RC205796L4
- RC213060
- RC213060L1
- RC213060L2
- RC213060L3
- RC213060L4
- RG205796
- RG213060
- MR209136L3V
- MR209136L4V
- MR213567L3V
- MR213567L4V
- RC205796L3V
- RC205796L4V
- RC213060L1V
- RC213060L2V
- RC213060L3V
- RC213060L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ERCC6L2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC6L2
| 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
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERCC6L2
SOURCE GeneReport for Unigene cluster for ERCC6L2 Gene:
Hs.432364mRNA 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
Primer products for research
-
OriGene qPCR primer pairs for ERCC6L2
-
OriGene qPCR primer pairs and template standards for ERCC6L2
Gene Expression Assays 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ERCC6L2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | ERCC6L2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ercc6l2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ercc6l2 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | ERCC6L2 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ERCC6L2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CZH9ORF102 30 |
|
||
| ERCC6L2 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | ERCC6L2 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-248d20.2 30 |
|
||
| ERCC6L2 31 |
|
OneToOne | |||
| Worm (Caenorhabditis elegans) |
Secernentea | csb-1 31 |
|
ManyToMany | |
| F53H4.6 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD26 31 |
|
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
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bone marrow failure syndrome 2 |
|
|
| basal cell nevus syndrome |
|
|
| leukemia, acute myeloid |
|
|
| expressive language disorder |
|
|
| microcephaly |
|
|
Search ERCC6L2 in MalaCards
View complete list of genes associated with diseases
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
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ERCC6L2 Gene
Publications for ERCC6L2 Gene
- 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
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
ExternalLinks
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Sources for ERCC6L2 Gene
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