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  2. ATG12 - autophagy related 12 Gene

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

ATG12 Protein Structure

APG12

APG12: Ubiquitin-like autophagy protein Apg12 (54 - 140)

  • 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

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