2. Gene
  3. MMS22L - MMS22 like, DNA repair protein Gene

MMS22L - MMS22 like, DNA repair protein Gene

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

中文名称：MMS22 样，DNA 修复蛋白

种属: Homo sapiens

同用名: C6orf167; dJ39B17.2

基因 ID: 253714 | 基因类型: protein coding

关于 MMS22L

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:97,142,161-97,284,035 (from NCBI)

This gene has 13 transcripts (splice variants) and 189 orthologues. Broad expression in testis (RPKM 2.1), bone marrow (RPKM 1.2) and 24 other tissues.

功能概要

由该基因编码的蛋白质与 tonsoku 样 DNA 修复蛋白 (TONSL) 形成复合物，该复合物可识别和修复停滞或折叠的复制叉位点处的 DNA 双链断裂。编码的蛋白质还可以与组蛋白相关蛋白 NFKBIL2 结合，以帮助调节停滞复制叉处的染色质状态。最后，该基因似乎在大多数肺癌和食道癌中过度表达。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 4 月]

The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]

MMS22L 基因产物(3)

mRNA Protein Name
NM_001350599.2 NP_001337528.1 protein MMS22-like isoform a
NM_001350600.2 NP_001337529.1 protein MMS22-like isoform b
NM_198468.4 NP_940870.2 protein MMS22-like isoform a

MMS22L 蛋白结构

MMS22L_N

MMS22L_N: S-phase genomic integrity recombination mediator, N-terminal (26 - 731)

MMS22L_C

MMS22L_C: S-phase genomic integrity recombination mediator, C-terminal (852 - 1227)

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  • 1243 a.a.
蛋白主名 其他名称

protein MMS22-like

MMS22L 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
MMS22L Q6ZRQ5 TONSL Homo sapiens Q96HA7
TAP
21113133
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
Macular Degeneration, Age-Related, 14

Age Related Macular Degeneration 14

ARMD14

Macular Degeneration, Age-Related, 14, Reduced Risk Of

Macular Degeneration, Age-Related, Type 14
Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia

Spondylar And Nasal Alterations With Striated Metaphyses

SEMDSP

Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation

Spondylar And Nasal Alterations-Striated Metaphyses Syndrome

Spondyloepimetaphyseal Dysplasia Sponastrime Type

Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation

Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia

Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation

Dysplasia, Spondyloepimetaphyseal, Sponastrime Type
Deafness, Autosomal Dominant 66

DFNA66

Autosomal Dominant Nonsyndromic Deafness 66

Autosomal Dominant Deafness 66

Deafness, Autosomal Dominant, 66
Mirror Movements 1

Congenital Mirror Movement Disorder

Bimanual Synergia

Congenital Mirror Movements

Familial Congenital Controlateral Synkinesia

Familial Congenital Mirror Movements

Hereditary Congenital Controlateral Synkinesia

Hereditary Congenital Mirror Movements

Isolated Congenital Controlateral Synkinesia

Isolated Congenital Mirror Movements

Mirror Movements

MRMV1

Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum

Mirror Movements, Congenital

Bimanual Synkinesis

Cmm

Mirror Movements, Type 1
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-RS08563 MMS22L Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MMS22L VGNC VGNC:99425
Rattus norvegicus MMS22L RGD RGD:1304693
Felis catus MMS22L VGNC VGNC:102463
Canis familiaris MMS22L VGNC VGNC:43294
Bos taurus MMS22L VGNC VGNC:31535
Mus musculus MMS22L MGD MGI:2684980
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