Aliases for ERCC6L2 Gene
Aliases for ERCC6L2 Gene
- ERCC Excision Repair 6 Like 2 2 3 5
- 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
- C9orf102 3 4
- RAD26L 3 4
- Putative Repair And Recombination Helicase RAD26L 3
External Ids for ERCC6L2 Gene
- HGNC: 26922
- Entrez Gene: 375748
- Ensembl: ENSG00000182150
- OMIM: 615667
- UniProtKB: Q5T890
Previous HGNC Symbols for ERCC6L2 Gene
- C9orf102
Previous GeneCards Identifiers for ERCC6L2 Gene
- GC09P098639
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 Microcephaly. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent helicase activity. An important paralog of this gene is PGBD3.
UniProtKB/Swiss-Prot for ERCC6L2 Gene
-
May be involved in early DNA damage response.
Additional gene information for ERCC6L2 Gene
- 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 , fRNAdb sequence ontologies and piRNA Summary for ERCC6L2 Gene
Genomics for ERCC6L2 Gene
GeneHancer (GH) Regulatory Elements for ERCC6L2 Gene
Promoters and enhancers for ERCC6L2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ERCC6L2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ERCC6L2 Gene
Genomic Locations for ERCC6L2 Gene
- chr9:95,875,618-96,120,476
- (GRCh38/hg38)
- Size:
- 244,859 bases
- Orientation:
- Plus strand
- chr9:98,637,900-98,776,842
- (GRCh37/hg19)
- Size:
- 138,943 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 Entrez Gene
- 9q22.32 by HGNC
- 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB97543.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB97543.1; Type=Frameshift; Positions=135; Evidence={ECO:0000305}; Sequence=EAW92640.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for ERCC6L2 Gene
Post-translational modifications for ERCC6L2 Gene
- Phosphorylated by NEK6.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ERCC6L2 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ERCC6L2
- Novus Biologicals Antibodies for ERCC6L2
- Invitrogen Antibodies for ERCC6L2
- GeneTex ERCC6L2 Antibody for ERCC6L2
-
Boster Bio Antibodies for ERCC6L2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ERCC6L2
Protein Products
-
OriGene Purified Proteins for ERCC6L2
- Search Origene for MassSpec and Protein Over-expression Lysates for ERCC6L2
- Origene Custom Protein Services for ERCC6L2
- Search GeneTex for Proteins for ERCC6L2
Assay Products
No data available for DME Specific Peptides for ERCC6L2 Gene
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
Suggested Antigen Peptide Sequences for ERCC6L2 Gene
- GenScript: Design optimal peptide antigens:
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:0003677 | DNA binding | IEA | -- |
| GO:0004386 | helicase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | -- |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for ERCC6L2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ERCC6L2
-
CRISPR Products
-
OriGene CRISPR knockouts for ERCC6L2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC6L2
- genomics-online: gRNA clones - Search results for 66 available ERCC6L2 gene related products
- Overview of 66 available ERCC6L2 gene related products
- Applied Biological Materials CRISPR for ERCC6L2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERCC6L2
- GenScript: Design CRISPR guide RNA sequences 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 66 available ERCC6L2 gene related products
- Overview of 66 available ERCC6L2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ERCC6L2
- VectorBuilder custom plasmid, inducible vectors for ERCC6L2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERCC6L2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC6L2
- Applied Biological Materials Clones for ERCC6L2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 | 2 |
- Nucleoplasm (2)
- Cytosol (1)
| 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
No Data Available
Interacting Proteins for ERCC6L2 Gene
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
- (11) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (96) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000288985 4564 bps (uc004avt.5)
- ENST00000466840 3586 bps (uc064uno.1)
- ENST00000456993 1822 bps (uc064unq.1)
- ENST00000479391 2849 bps (uc064unr.1)
- ENST00000426805 498 bps (uc064uns.1)
Unigene Clusters for ERCC6L2 Gene
- Excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for ERCC6L2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC6L2
- genomics-online: gRNA clones - Search results for 66 available ERCC6L2 gene related products
- Overview of 66 available ERCC6L2 gene related products
- Applied Biological Materials CRISPR for ERCC6L2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERCC6L2
- GenScript: Design CRISPR guide RNA sequences for ERCC6L2
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 66 available ERCC6L2 gene related products
- Overview of 66 available ERCC6L2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ERCC6L2
- VectorBuilder custom plasmid, inducible vectors for ERCC6L2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERCC6L2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC6L2
- Applied Biological Materials Clones for ERCC6L2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of ERCC6L2 Gene:
ERCC6L2SOURCE 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
- Liver(4.2)
- Nervous system(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
-
OriGene qPCR primer pairs for ERCC6L2
-
OriGene qPCR primer pairs and template standards for ERCC6L2
Gene Expression Assay Products
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 33 |
|
||
| cow (Bos Taurus) |
Mammalia | ERCC6L2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ercc6l2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ercc6l2 33 |
|
||
| dog (Canis familiaris) |
Mammalia | ERCC6L2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ERCC6L2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CZH9ORF102 33 |
|
||
| ERCC6L2 34 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | ERCC6L2 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | si:ch211-248d20.2 33 |
|
||
| ERCC6L2 34 |
|
OneToOne | |||
| worm (Caenorhabditis elegans) |
Secernentea | csb-1 34 |
|
ManyToMany | |
| F53H4.6 34 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD26 34 |
|
OneToMany |
- Species where no ortholog for ERCC6L2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Variants for ERCC6L2 Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs147948835 | pathogenic, Bone marrow failure syndrome 2 | 95,955,996(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs886037662 | pathogenic, Bone marrow failure syndrome 2 | 95,921,217(+) | CAAACA/CA | 5_prime_UTR_variant, coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant | |
| rs778926161 | likely-pathogenic, not provided | 95,876,057(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained | |
| rs139286981 | likely-benign, not provided | 95,876,059(+) | G/A/C/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
| rs1000028693 | -- | 95,967,683(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv524894 | CNV | loss | 19592680 |
| nsv524266 | CNV | loss | 19592680 |
| nsv1147999 | OTHER | inversion | 26484159 |
| nsv1035723 | CNV | loss | 25217958 |
| esv3573300 | CNV | loss | 25503493 |
| esv3445465 | CNV | insertion | 20981092 |
| esv3395779 | CNV | insertion | 20981092 |
| esv3355820 | CNV | insertion | 20981092 |
| esv3304940 | CNV | mobile element insertion | 20981092 |
| esv2676659 | CNV | deletion | 23128226 |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC6L2 Gene
Disorders for ERCC6L2 Gene
(2) MalaCards diseases for ERCC6L2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bone marrow failure syndrome 2 |
|
|
| 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 mutations affecting the gene represented in this entry.
Additional Disease Information for ERCC6L2
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) 3 4 58
- 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 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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) 3 58
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
Products for ERCC6L2 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
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- Browse Proteome Profiler Antibody Arrays
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- Custom Antibody ServicesOriGene Antibodies for ERCC6L2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ERCC6L2
- Search Origene for MassSpec and Protein Over-expression Lysates for ERCC6L2
- Origene Custom Protein Services for ERCC6L2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERCC6L2
- Browse OriGene Inhibitory RNA Products For ERCC6L2
- OriGene qPCR primer pairs for ERCC6L2
- OriGene qPCR primer pairs and template standards for ERCC6L2
- OriGene CRISPR knockouts for ERCC6L2
- OriGene ORF clones in human for ERCC6L2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ERCC6L2
- GenScript: Next-day shipping of latest version cDNA ORF clones for ERCC6L2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ERCC6L2
- GenScript Custom Assay Services for ERCC6L2
- GenScript Custom overexpressing Cell Line Services for ERCC6L2
- GenScript: Design CRISPR guide RNA sequences for ERCC6L2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ERCC6L2
- Sino Biological Human cDNA Clone for ERCC6L2
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ERCC6L2
- Novus Biologicals lysates and proteins for ERCC6L2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Cyagen custom Knockout/knockin (KOKI) mouse models for ERCC6L2
- VectorBuilder custom plasmid, inducible vectors for ERCC6L2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERCC6L2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- GeneTex ERCC6L2 Antibody for ERCC6L2
- Search GeneTex for Proteins for ERCC6L2
- Santa Cruz Biotechnology (SCBT) Antibodies for ERCC6L2
- Search Santa Cruz Biotechnology (SCBT) for ERCC6L2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ERCC6L2
- Horizon Cell Lines for ERCC6L2
- genomics-online: cdna clones - Search results for 66 available ERCC6L2 gene related products
- Overview of 66 available ERCC6L2 gene related products
- orf clones - Search results for 66 available ERCC6L2 gene related products
- Overview of 66 available ERCC6L2 gene related products
- genomics-online: gRNA clones - Search results for 66 available ERCC6L2 gene related products
- Overview of 66 available ERCC6L2 gene related products
- genomics-online: primer clones - Search results for 66 available ERCC6L2 gene related products
- Overview of 66 available ERCC6L2 gene related products
- genomics-online: shRNA clones - Search results for 66 available ERCC6L2 gene related products
- Overview of 66 available ERCC6L2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC6L2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC6L2
- GeneCopoeia miRNA 3'UTR Target clone products for ERCC6L2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC6L2
- Boster Bio Antibodies for ERCC6L2
- Browse Boster Bio ELISA Kits
Sources for ERCC6L2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt