ERCC6L2 - ERCC excision repair 6 like 2 Gene

Also Known as HEBO; BMFS2; SR278; RAD26L; C9orf102

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 375748

About ERCC6L2

Cytogenetic location: 9q22.32 Genomic coordinates (GRCh38): 9:95,875,691-96,041,092 (from NCBI)

This gene has 26 transcripts (splice variants), 56 orthologues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 2.2), ovary (RPKM 1.9) and 25 other tissues.

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]

ERCC6L2 Products (6)

mRNA Protein Name
NM_001010895.4 NP_001010895.2 DNA excision repair protein ERCC-6-like 2 isoform c
NM_001375291.1 NP_001362220.1 DNA excision repair protein ERCC-6-like 2 isoform 4
NM_001375292.1 NP_001362221.1 DNA excision repair protein ERCC-6-like 2 isoform 5
NM_001375293.1 NP_001362222.1 DNA excision repair protein ERCC-6-like 2 isoform 6
NM_001375294.1 NP_001362223.1 DNA excision repair protein ERCC-6-like 2 isoform 7
NM_020207.7 NP_064592.3 DNA excision repair protein ERCC-6-like 2 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
20873783 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to reactive oxygen species IMP
IMP: Inferred from mutant phenotype
24507776 GOA
involved in interstrand cross-link repair IMP
IMP: Inferred from mutant phenotype
24507776 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with centrosome IDA
IDA: Inferred from direct assay
20873783 GOA
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
24507776 GOA
located in mitochondrion IMP
IMP: Inferred from mutant phenotype
24507776 GOA
located in nucleus IMP
IMP: Inferred from mutant phenotype
24507776 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
20873783 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ERCC6L2 Protein Structure

SNF2_N

SNF2_N: SNF2 family N-terminal domain (137 - 469)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (554 - 632)

  • 0
  • 200
  • 400
  • 600
  • 712 a.a.
Protein Preferred Names Protein Names

DNA excision repair protein ERCC-6-like 2

  • DNA repair and recombination protein RAD26-like

ERCC6L2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ERCC6L2 Q5T890 TCP11L1 Homo sapiens Q9NUJ3
Y2H Array
32296183
Intra
ERCC6L2 Q5T890 TCP11L1 Homo sapiens Q9NUJ3
Validated Y2H
32296183
Intra
ERCC6L2 Q5T890 CYREN Homo sapiens Q9BWK5
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Bone Marrow Failure Syndrome 2

  • Pancytopenia-Developmental Delay Syndrome

  • BMFS2

  • Trilineage Bone Marrow Failure-Developmental Delay Syndrome

  • Bone Marrow Failure Syndrome, Type 2
Leukemia, Acute Myeloid

  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Pancytopenia
Thrombocytopenia

  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos
Expressive Language Disorder

  • Developmental Expressive Language Disorder
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Shwachman-Diamond Syndrome 1

  • Shwachman-Diamond Syndrome

  • Shwachman Syndrome

  • Shwachman-Bodian-Diamond Syndrome

  • Sds

  • Pancreatic Insufficiency And Bone Marrow Dysfunction

  • Shwachman-Bodian Syndrome

  • SDS1

  • Lipomatosis Of Pancreas, Congenital

  • Congenital Lipomatosis Of Pancreas

  • Shwachman-Diamond Type Metaphyseal Dysplasia

  • Metaphyseal Chondrodysplasia, Shwachman Type

  • Shwachman-Diamond-Oski Syndrome
Dyskeratosis Congenita

  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04485 ERCC6L2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ERCC6L2 VGNC VGNC:101457
Macaca mulatta ERCC6L2 VGNC VGNC:101479
Rattus norvegicus ERCC6L2 RGD RGD:1561537
Canis familiaris ERCC6L2 VGNC VGNC:97192
Bos taurus ERCC6L2 VGNC VGNC:56964
Mus musculus ERCC6L2 MGD MGI:1923501
Others ERCC6L2 NCBI