2. Gene
  3. ERCC6L2 - ERCC excision repair 6 like 2 Gene

ERCC6L2 - ERCC excision repair 6 like 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ERCC 切除修复 6 样 2

种属: Homo sapiens

同用名: HEBO; BMFS2; SR278; RAD26L; C9orf102

基因 ID: 375748 | 基因类型: protein coding

关于 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.

功能概要

该基因编码解旋酶样蛋白 Snf2 家族的一个成员。编码的蛋白质可能在 DNA 修复和线粒体功能中发挥作用。该基因的突变与骨髓衰竭综合征 2 有关。已经描述了编码不同蛋白质同种型的可变剪接转录物变体。[RefSeq 提供，2014 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
20873783 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to reactive oxygen species IMP
IMP: 通过突变表型推断
24507776 GOA
involved in interstrand cross-link repair IMP
IMP: 通过突变表型推断
24507776 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with centrosome IDA
IDA: 通过直接分析推断
20873783 GOA
located in cytoplasm IMP
IMP: 通过突变表型推断
24507776 GOA
located in mitochondrion IMP
IMP: 通过突变表型推断
24507776 GOA
located in nucleus IMP
IMP: 通过突变表型推断
24507776 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
20873783 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ERCC6L2 蛋白结构

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.
蛋白主名 其他名称

DNA excision repair protein ERCC-6-like 2

DNA repair and recombination protein RAD26-like

ERCC6L2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ERCC6L2 Q5T890 TCP11L1 Homo sapiens Q9NUJ3
Y2H Array
32296183
种属内
ERCC6L2 Q5T890 TCP11L1 Homo sapiens Q9NUJ3
Validated Y2H
32296183
种属内
ERCC6L2 Q5T890 CYREN Homo sapiens Q9BWK5
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04485 ERCC6L2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z