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

Also Known as FAM6A; PRLMNS; hDIS3L2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 129563

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3'-5'-RNA exonuclease activity	IDA IDA: Inferred from direct assay	23756462	GOA
enables RNA nuclease activity	IDA IDA: Inferred from direct assay	22306653	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	24141620	GOA
enables poly(U) RNA binding	IDA IDA: Inferred from direct assay	24141620	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23756462	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in miRNA catabolic process	IDA IDA: Inferred from direct assay	24141620	GOA
involved in mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	22306653	GOA
involved in mitotic sister chromatid separation	IMP IMP: Inferred from mutant phenotype	22306653	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	22306653	GOA
involved in nuclear-transcribed mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	23756462	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in P-body	IDA IDA: Inferred from direct assay	23756462	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22306653	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DIS3L2 Protein Structure

RNB

0
200
400
600
800
885 a.a.

Protein Preferred Names	Protein Names
DIS3-like exonuclease 2	DIS3 mitotic control homolog-like 2

DIS3L2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84664	DIS3L2 Antibody (YA4361)	WB, IHC-P, FC, ELISA	Human
HY-P84664A	DIS3L2 Antibody (YA4361)(PBS only)	WB, IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03780	DIS3L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-173081	4"-(2-(p-Chlorophenyl)acetoxyl)spiramycin	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	DIS3L2	NCBI