ATG12 - autophagy related 12 Gene

Homo sapiens

Also known as APG12; FBR93; APG12L; HAPG12

Gene ID: 9140 | Gene type: protein coding

About ATG12

Cytogenetic location: 5q22.3 Genomic coordinates (GRCh38): 5:115,828,200-115,841,565 (from NCBI)

This gene has 13 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in brain (RPKM 8.9), fat (RPKM 8.2) and 25 other tissues.

Summary

Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in Autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]

ATG12 Products(2)

mRNA	Protein	Name
NM_001277783.2	NP_001264712.1	ubiquitin-like protein ATG12 isoform 2
NM_004707.4	NP_004698.3	ubiquitin-like protein ATG12 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9852036	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in macroautophagy	IMP IMP: Inferred from mutant phenotype	25484072	GOA
involved in negative regulation of defense response to virus	IDA IDA: Inferred from direct assay	19666601	GOA
involved in positive regulation of viral translation	IDA IDA: Inferred from direct assay	19666601	GOA
involved in regulation of autophagosome maturation	IMP IMP: Inferred from mutant phenotype	22342342	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Atg12-Atg5-Atg16 complex	IPI IPI: Inferred from physical interaction	23202584	GOA
located in autophagosome	IDA IDA: Inferred from direct assay	24954904	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

ATG12 Protein Structure

APG12

0
100
140 a.a.

Protein Preferred Names

Protein Names

ubiquitin-like protein ATG12

APG12 autophagy 12-like

Related Diseases

Diseases

Alias

Stomatitis

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Mouth Disease

Mouth Diseases

Mouth Disorders

Macular Degeneration, Age-Related, 14

Age Related Macular Degeneration 14	ARMD14
Macular Degeneration, Age-Related, 14, Reduced Risk Of	Macular Degeneration, Age-Related, Type 14

Acute Laryngopharyngitis

Pharyngolaryngitis	Laryngopharyngitis
Hypopharyngitis

Parkinson Disease 2, Autosomal Recessive Juvenile

Young-Onset Parkinson Disease	PARK2
Pdj	Autosomal Recessive Juvenile Parkinson Disease 2
Epdf	Parkinson Disease, Juvenile, Type 2
Parkinson'S Disease 2	Autosomal Recessive Juvenile Parkinson Disease
Early-Onset Parkinson Disease	Parkinson Disease 2
Parkinson Disease, Juvenile, Autosomal Recessive	Parkinsonism, Early-Onset, With Diurnal Fluctuation
Autosomal Recessive Juvenile Parkinson'S Disease 2	Jp
Juvenile Parkinsonism	Parkinson Disease Autosomal Recessive, Early Onset
Parkinsonism, Early Onset, With Diurnal Fluctuation	Yopd
Autosomal Recessive Early-Onset Parkinson Disease Type 2	Chromosome 6-Linked Autosomal Recessive Parkinsonism
Early-Onset Parkinsonism With Diurnal Fluctuation	Parkinsonism Young Adult Onset
Parkinson Disease, Type 2	Parkinsonism, Juvenile

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-156966	ATG12-ATG3 inhibitor 1	Inhibitor	99.31%	Unkown
HY-162932	ATG12-IN-1	Inhibitor	/	Unkown
HY-RS01140	ATG12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ATG12	VGNC	VGNC:67741
Mus musculus	ATG12	MGD	MGI:1914776
Canis familiaris	ATG12	VGNC	VGNC:38216
Macaca mulatta	ATG12	VGNC	VGNC:110488
Rattus norvegicus	ATG12	RGD	RGD:1306306
Bos taurus	ATG12	VGNC	VGNC:26250

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