DIS3L2 - DIS3 like 3'-5' exoribonuclease 2 Gene

中文名称：DIS3 类 3'-5' 核糖核酸外切酶 2

种属: Homo sapiens

同用名: FAM6A; PRLMNS; hDIS3L2

基因 ID: 129563 | 基因类型: protein coding

关于 DIS3L2

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:231,961,713-232,344,350 (from NCBI)

This gene has 14 transcripts (splice variants), 203 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 4.3) and 25 other tissues.

功能概要

该基因编码的蛋白质在序列上与 RNA 外泌体的 3'/5' 外切核酸亚基相似。外泌体是一种大的多聚核糖核苷酸复合物，负责降解各种 RNA 底物。已经发现该基因的几种转录变体，一些编码蛋白质，一些不编码。[RefSeq 提供，2012 年 3 月]

The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]

DIS3L2 基因产物(3)

mRNA	Protein	Name
NM_001257281.2	NP_001244210.1	DIS3-like exonuclease 2 isoform 2
NM_001257282.2	NP_001244211.1	DIS3-like exonuclease 2 isoform 3
NM_152383.5	NP_689596.4	DIS3-like exonuclease 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 3'-5'-RNA exonuclease activity	IDA IDA: 通过直接分析推断	23756462	GOA
enables RNA nuclease activity	IDA IDA: 通过直接分析推断	22306653	GOA
enables magnesium ion binding	IDA IDA: 通过直接分析推断	24141620	GOA
enables poly(U) RNA binding	IDA IDA: 通过直接分析推断	24141620	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	23756462	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in miRNA catabolic process	IDA IDA: 通过直接分析推断	24141620	GOA
involved in mitotic cell cycle	IMP IMP: 通过突变表型推断	22306653	GOA
involved in mitotic sister chromatid separation	IMP IMP: 通过突变表型推断	22306653	GOA
involved in negative regulation of cell population proliferation	IMP IMP: 通过突变表型推断	22306653	GOA
involved in nuclear-transcribed mRNA catabolic process	IMP IMP: 通过突变表型推断	23756462	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in P-body	IDA IDA: 通过直接分析推断	23756462	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	22306653	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

DIS3L2 蛋白结构

RNB

0
200
400
600
800
885 a.a.

蛋白主名

其他名称

DIS3-like exonuclease 2

DIS3 mitotic control homolog-like 2

DIS3L2 抗体

目录号	产品名	应用	反应物种
HY-P84664	DIS3L2 Antibody (YA4361)	WB, IHC-P, FC, ELISA	Human

关联疾病

疾病名称

别名

Perlman Syndrome

Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor	PRLMNS
Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism	Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor
Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor	Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor
Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism	Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome
Renal Hamartomas Nephroblastomatosis And Fetal Gigantism	Nephroblastoma
Fetal Macrosomia

Wilms Tumor 1

Nephroblastoma	Wilms Tumor
WT1	Wilms' Tumor
Bilateral Wilms Tumor	Wilms Tumor, Type 1
Wilms Tumor, Somatic	Adult Nephroblastoma
Wt1 Disorder	Renal Embryonic Tumor
Adult Kidney Wilms Tumor	Childhood Kidney Wilms Tumor
Nonanaplastic Kidney Wilms Tumor

Wilms Tumor 5

Wilms Tumor	WT5
Wilms Tumor Susceptibility-5	Wilms Tumor And Radial Bilateral Aplasia
Nephroblastoma	Wilms' Tumor
Wilms Tumor, Susceptibility To	Wtsl
Bilateral Radial Aplasia With Wilms Tumor	Embryonal Adenosarcoma
Embryonal Nephroma	Kidney Wilms Tumor
Kidney, Adenomyosarcoma, Embryonal	Kidney, Carcinosarcoma, Embryonal
Kidney, Embryoma	Kidney, Embryonal Mixed Tumor
Nephroma	Renal Adenosarcoma
Renal Cancer, Wilms	Renal Wilms Tumor
Tumor, Wilms	Hereditary Susceptibility To Wilms Tumor 5

Hypogonadotropic Hypogonadism 5 With Or Without Anosmia

HH5	Kallmann Syndrome 5
Kal5	Hypogonadotropic Hypogonadism 5 Without Anosmia
Hypogonadism, Hypogonadotropic, Type 5 With/Without Anosmia

Renal Wilms' Tumor

Nonanaplastic Renal Wilm'S Tumor	Nonanaplastic Renal Wilm'S Tumour
Nonanaplastic Renal Wilms Tumor	Renal Wilms' Tumour

Fraser Syndrome 1

Fraser Syndrome	Cryptophthalmos With Other Malformations
Cryptophthalmos Syndrome	FRASRS1
Cryptophthalmos-Syndactyly Syndrome	Fraser-Francois Syndrome
Cyclopism	Meyer-Schwickerath'S Syndrome
Ulrich-Feichtiger Syndrome	Cryptophthalmos Syndactyly Syndrome
Fraser'S Syndrome	Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome

Overgrowth Syndrome

Overgrowth

Congenital Malformation Syndromes Involving Early Overgrowth

Treacher Collins Syndrome 1

Treacher Collins Syndrome	Mandibulofacial Dysostosis
Treacher Collins-Franceschetti Syndrome	Tcof
Tcs	Mfd1
Franceschetti-Klein Syndrome	TCS1
Franceschetti Syndrome	Franceschetti-Zwahlen-Klein Syndrome
Zygoauromandibular Dysplasia	Treacher-Collins Syndrome
Mandibulofacial Dysostosis Without Limb Anomalies	Bilateral And Symmetric Oto-Mandibular Dysplasia

Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Sotos Syndrome 1

Sotos1	Sotos Syndrome, Type 1
Sotos' Syndrome

Acromesomelic Dysplasia 1

Acromesomelic Dysplasia, Maroteaux Type	Amdm
Acromesomelic Dysplasia 1, Maroteaux Type	AMD1
St. Helena Dysplasia	Acromesomelic Dysplasia-1
Acromesomelic Dysplasia Maroteaux Type	Acromesomelic Dwarfism Maroteux Type
Dysplasia, Acromesomelic, Type 1, Maroteaux	Acromesomelic Dysplasia Hunter-Thompson Type

Hereditary Wilms' Tumor

Hereditary Wilms Tumor	Hereditary Wilms Tumour
Hereditary Wilms' Tumour	Wt1

Chromosome 2q37 Deletion Syndrome

Albright Hereditary Osteodystrophy-Like Syndrome	2q37 Microdeletion Syndrome
Brachydactyly-Intellectual Disability Syndrome	Deletion 2q37
2q37 Deletion Syndrome	Brachydactyly-Mental Retardation Syndrome
Bdmr	Albright Hereditary Osteodystrophy Type 3
Del(2)(Q37)	Monosomy 2q37qter
Albright'S Hereditary Osteodystrophy-Like Syndrome	Monosomy 2q37
Chromosome Deletion Syndrome 2q37

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome	WTS
Mrxs6	X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome
Mrxswt	Wilson-Turner X-Linked Mental Retardation Syndrome
Mental Retardation, X-Linked, Syndromic 6	Mental Retardation, X-Linked, With Gynecomastia And Obesity
Intellectual Disability, X-Linked, Syndromic 6	Intellectual Disability, X-Linked, With Gynecomastia And Obesity
Wilson Turner Intellectual Disability Syndrome	X-Linked Intellectual Disability - Gynecomastia - Obesity

Weaver Syndrome

Wss	Weaver-Smith Syndrome
WVS	Weaver-Like Syndrome
Weaver-Williams Syndrome	Camptodactyly-Overgrowth-Unusual Facies Syndrome
Camptodactyly - Overgrowth - Unusual Facies	Ezh2 Related Overgrowth
Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly	Weaver Smith Syndrome
Weaver Like Syndrome	Weaver Williams Syndrome
Camptodactyly-Overgrowth-Unusual Facies	Weaver Syndrome 1
Weaver Syndrome 2	Wvs1
Wvs2

Sotos Syndrome

Cerebral Gigantism	SOTOS
Chromosome 5q35 Deletion Syndrome	Sotos Syndrome 1, Formerly
Sotos1, Formerly	Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
Sotos Sequence	Sotos' Syndrome
Sotos1	Sotos Syndrome 1

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Syndromic Intellectual Disability

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-RS03780	DIS3L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-173081	4"-(2-(p-Chlorophenyl)acetoxyl)spiramycin	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	DIS3L2	VGNC	VGNC:28074
Rattus norvegicus	DIS3L2	RGD	RGD:1560168
Mus musculus	DIS3L2	MGD	MGI:2442555
Felis catus	DIS3L2	VGNC	VGNC:61501
Canis familiaris	DIS3L2	VGNC	VGNC:39964
Macaca mulatta	DIS3L2	VGNC	VGNC:71793

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