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  2. ATG2A - autophagy related 2A Gene

ATG2A - autophagy related 2A Gene

Homo sapiens

Also known as BLTP4A

Gene ID: 23130 | Gene type: protein coding

About ATG2A

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,894,546-64,917,209 (from NCBI)

This gene has 6 transcripts (splice variants), 188 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 17.3), spleen (RPKM 4.8) and 25 other tissues.

Summary

Predicted to enable phosphatidylinositol-3-phosphate binding activity. Involved in autophagosome assembly. Predicted to be located in endoplasmic reticulum membrane; lipid droplet; and phagophore assembly site membrane. Predicted to be active in phagophore assembly site. Predicted to be extrinsic component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

ATG2A Products(3)

mRNA Protein Name
NM_001367971.1 NP_001354900.1 autophagy-related protein 2 homolog A isoform 2
NM_001367972.1 NP_001354901.1 autophagy-related protein 2 homolog A isoform 3
NM_015104.3 NP_055919.2 autophagy-related protein 2 homolog A isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables lipid transfer activity IDA
IDA: Inferred from direct assay
30952800 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20562859 GOA
Biological Process GO Annotation Evidence Reference Source
involved in autophagosome assembly IMP
IMP: Inferred from mutant phenotype
28561066 GOA
involved in positive regulation of autophagosome assembly IDA
IDA: Inferred from direct assay
30952800 GOA
Cellular Component GO Annotation Evidence Reference Source
is active in organelle membrane contact site IDA
IDA: Inferred from direct assay
30952800 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

ATG2A Protein Structure

Chorein_N

Chorein_N: N-terminal region of Chorein or VPS13 (16 - 109)

ATG_C

ATG_C: Autophagy-related protein C terminal domain (1837 - 1932)

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  • 1500
  • 1800
  • 1938 a.a.
Protein Preferred Names Protein Names

autophagy-related protein 2 homolog A

ATG2 autophagy related 2 homolog A

Related Diseases

Diseases Alias
Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Neurodegeneration With Brain Iron Accumulation 5

NBIA5

Beta-Propeller Protein-Associated Neurodegeneration

Bpan

Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood

Senda

Neurodegeneration With Brain Iron Accumulation Type 5

Neurodegeneration With Brain Iron Accululation 5

Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood

Neurodegeneration, With Brain Iron Accululation, Type 5

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 ATG2A VGNC VGNC:60000
Rattus norvegicus ATG2A RGD RGD:1589890
Bos taurus ATG2A VGNC VGNC:106645
Macaca mulatta ATG2A VGNC VGNC:70145
Canis familiaris ATG2A VGNC VGNC:38221
Mus musculus ATG2A MGD MGI:1916291