SLF2 - SMC5-SMC6 complex localization factor 2 Gene

中文名称：SMC5-SMC6 复合定位因子 2

种属: Homo sapiens

同用名: C10orf6; FAM178A

基因 ID: 55719 | 基因类型: protein coding

关于 SLF2

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,912,963-100,965,134 (from NCBI)

This gene has 6 transcripts (splice variants), 196 orthologues and 1 paralogue. Broad expression in testis (RPKM 12.5), ovary (RPKM 7.5) and 24 other tissues.

功能概要

启用泛素蛋白连接酶结合活性。参与多个过程，包括细胞成分组织的正向调节；双链断裂修复的正调控；和蛋白质定位到双链断裂位点。位于染色质；核质；和双链断裂位点。 [由基因组资源联盟提供，2022 年 4 月]

Enables ubiquitin protein Ligase binding activity. Involved in several processes, including positive regulation of cellular component organization; positive regulation of double-strand break repair; and protein localization to site of double-strand break. Located in chromatin; nucleoplasm; and site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022]

SLF2 基因产物(3)

mRNA	Protein	Name
NM_001136123.2	NP_001129595.1	SMC5-SMC6 complex localization factor protein 2 isoform 2
NM_001243770.2	NP_001230699.1	SMC5-SMC6 complex localization factor protein 2 isoform 3
NM_018121.4	NP_060591.3	SMC5-SMC6 complex localization factor protein 2 isoform 1

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	25931565	GOA
enables protein-containing complex binding	IPI IPI: 通过物理相互作用推断	25931565	GOA
enables ubiquitin protein ligase binding	IPI IPI: 通过物理相互作用推断	25931565	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	25931565	GOA
involved in positive regulation of double-strand break repair	IDA IDA: 通过直接分析推断	25931565	GOA
involved in positive regulation of maintenance of mitotic sister chromatid cohesion	IMP IMP: 通过突变表型推断	25931565	GOA
involved in positive regulation of protein-containing complex assembly	IMP IMP: 通过突变表型推断	25931565	GOA
involved in protein localization to site of double-strand break	IDA IDA: 通过直接分析推断	25931565	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in PML body	IDA IDA: 通过直接分析推断	36373674	GOA
located in chromatin	IDA IDA: 通过直接分析推断	24561620	GOA
located in nucleus	IDA IDA: 通过直接分析推断	24561620	GOA
located in site of double-strand break	IDA IDA: 通过直接分析推断	25931565	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

SLF2 蛋白结构

FAM178

0
200
400
600
800
1000
1173 a.a.

蛋白主名

其他名称

SMC5-SMC6 complex localization factor protein 2

family with sequence similarity 178, member A

SLF2 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
Intra	SLF2	Q8IX21	SLF1	Homo sapiens	Q9BQI6	Anti Tag CoIP	36373674
Intra	SLF2	Q8IX21	SLF1	Homo sapiens	Q9BQI6	Anti Tag CoIP	26496610
Intra	SLF2	Q8IX21	SLF1	Homo sapiens	Q9BQI6	Y2H	32389690
Intra	SLF2	Q8IX21	TRIM14	Homo sapiens	Q14142	Y2H Array	32296183
Intra	SLF2	Q8IX21	TRIM14	Homo sapiens	Q14142	Y2H Prey Pooling	32296183
Intra	SLF2	Q8IX21	SMC5	Homo sapiens	Q8IY18	Anti Tag CoIP	33961781
Intra	SLF2	Q8IX21	SMC5	Homo sapiens	Q8IY18	Y2H	32389690
Intra	SLF2	Q8IX21	SMC6	Homo sapiens	Q96SB8	Anti Tag CoIP	33961781
Intra	SLF2	Q8IX21	SMC6	Homo sapiens	Q96SB8	Y2H	32389690
Intra	SLF2	Q8IX21	SIMC1	Homo sapiens	Q8NDZ2	Pull Down	36373674
Intra	SLF2	Q8IX21	SIMC1	Homo sapiens	Q8NDZ2	Anti Tag CoIP	36373674
Intra	SLF2	Q8IX21	SIMC1	Homo sapiens	Q8NDZ2	GMS	36373674
Intra	SLF2	Q8IX21	SIMC1	Homo sapiens	Q8NDZ2	Confocal	36373674
Intra	SLF2	Q8IX21	SIMC1	Homo sapiens	Q8NDZ2	Anti Tag CoIP	33961781
Intra	SLF2	Q8IX21	SIMC1	Homo sapiens	Q8NDZ2	3D-EM	36373674

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

Form Agnosia

Alveoli Adenoma

Alveolar Adenoma	Adenoma Of Alveoli
Adenoma Of The Alveoli

Bronchial Benign Neoplasm

Bronchus Neoplasm	Neoplasm Of Bronchus
Bronchial Neoplasms	Bronchial Neoplasm

Papillorenal Syndrome

Renal Coloboma Syndrome	Coloboma Of Optic Nerve With Renal Disease
Renal-Coloboma Syndrome	Optic Nerve Coloboma With Renal Disease
Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies	Renal-Coloboma Syndrome With Macular Abnormalities
Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities	Cakut With Or Without Ocular Abnormalities
PAPRS	Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies
Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease	Coloboma-Ureteral-Renal Syndrome
Oncr	Optic Nerve Coloboma Renal Syndrome
Rcs	Papillo-Renal Syndrome
Optic Coloboma Vesicoureteral Reflux And Renal Anomalies

Mitochondrial Dna Depletion Syndrome 7

Ohaha Syndrome	Infantile Onset Spinocerebellar Ataxia
Iosca	Infantile-Onset Spinocerebellar Ataxia
Spinocerebellar Ataxia 8	MTDPS7
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis	Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
Sca8	Spinocerebellar Ataxia Infantile With Sensory Neuropathy
Spinocerebellar Ataxia, Infantile-Onset	Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy	Spinocerebellar Ataxia 8, Formerly
Sca8, Formerly	Iosca, Mitochondrial Dna Depletion Syndrome 7
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
Mtdna Depletion Syndrome, Hepatocerebrorenal Form	Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis	Pure Spinocerebellar Ataxia Japanese Type
Sca4 Pure Japanese Type	Spinocerebellar Ataxia Infantile-Onset
Mitochondrial Dna Depletion Syndrome , Type 7

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13362	SLF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	SLF2	VGNC	VGNC:106104
Rattus norvegicus	SLF2	RGD	RGD:1560300
Mus musculus	SLF2	MGD	MGI:1924968
Canis familiaris	SLF2	VGNC	VGNC:53013
Felis catus	SLF2	VGNC	VGNC:107070
Bos taurus	SLF2	VGNC	VGNC:34958

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