MACROD2 - mono-ADP ribosylhydrolase 2 Gene

Homo sapiens

Also known as C2orf133; C20orf133

Gene ID: 140733 | Gene type: protein coding

About MACROD2

Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:13,995,516-16,053,197 (from NCBI)

This gene has 15 transcripts (splice variants), 188 orthologues and 2 paralogues. Broad expression in lung (RPKM 4.7), brain (RPKM 4.0) and 20 other tissues.

Summary

The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]

MACROD2 Products(5)

mRNA	Protein	Name
NM_001033087.2	NP_001028259.1	ADP-ribose glycohydrolase MACROD2 isoform 2
NM_001351661.2	NP_001338590.1	ADP-ribose glycohydrolase MACROD2 isoform 3
NM_001351663.2	NP_001338592.1	ADP-ribose glycohydrolase MACROD2 isoform 4
NM_001351664.2	NP_001338593.1	ADP-ribose glycohydrolase MACROD2 isoform 5
NM_080676.6	NP_542407.2	ADP-ribose glycohydrolase MACROD2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ADP-ribosylglutamate hydrolase activity	IDA IDA: Inferred from direct assay	23474714	GOA
enables deacetylase activity	IDA IDA: Inferred from direct assay	21257746	GOA
enables hydrolase activity, acting on glycosyl bonds	IDA IDA: Inferred from direct assay	23474712	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	23474712	GOA
involved in peptidyl-glutamate ADP-deribosylation	IDA IDA: Inferred from direct assay	23474714	GOA
involved in protein de-ADP-ribosylation	IDA IDA: Inferred from direct assay	23474712	GOA
involved in purine nucleoside metabolic process	IDA IDA: Inferred from direct assay	21257746	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	23474712	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

MACROD2 Protein Structure

Macro

0
100
200
300
400
425 a.a.

Protein Preferred Names

Protein Names

ADP-ribose glycohydrolase MACROD2

MACRO domain containing 2

Related Diseases

Diseases

Alias

Hypogonadotropic Hypogonadism 21 With Or Without Anosmia

HH21	Hypogonadotropic Hypogonadism 21 With Anosmia
Hypogonadotropic Hypogonadism 21 With Anosmia, Susceptibility To	Hypogonadism, Hypogonadotropic, Type 21 With/Without Anosmia

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Nephrotic Syndrome, Type 20

NPHS20	Nephrotic Syndrome Type 20
Nephrotic Syndrome 20

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07946	MACROD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MACROD2	MGD	MGI:1920149
Macaca mulatta	MACROD2	VGNC	VGNC:95356
Felis catus	MACROD2	VGNC	VGNC:82878
Rattus norvegicus	MACROD2	RGD	RGD:1591318

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