MACROD2 - mono-ADP ribosylhydrolase 2 Gene

Also Known as C2orf133; C20orf133

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 140733

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 References 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 References 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 References 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

Macro: Macro domain (88 - 200)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-146248B TFMU-ADPr diammonium 98.78% Unkown
HY-146248 TFMU-ADPr / Unkown
HY-RS07946 MACROD2 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others MACROD2 NCBI