ERCC6L2 - ERCC excision repair 6 like 2 Gene

Homo sapiens

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

Gene ID: 375748 | Gene type: protein coding

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

ERCC6L2 Protein Structure

SNF2_N

Helicase_C

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04485	ERCC6L2 Human Pre-designed siRNA Set A		/	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

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