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ATG2A autophagy related 2A [ Homo sapiens (human) ]

Gene ID: 23130, updated on 23-Nov-2023

Summary

Official Symbol
ATG2Aprovided by HGNC
Official Full Name
autophagy related 2Aprovided by HGNC
Primary source
HGNC:HGNC:29028
See related
Ensembl:ENSG00000110046 MIM:616225; AllianceGenome:HGNC:29028
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BLTP4A
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]
Expression
Ubiquitous expression in bone marrow (RPKM 17.3), spleen (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

See ATG2A in Genome Data Viewer
Location:
11q13.1
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64894546..64917209, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64887785..64910450, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64662018..64684681, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MIR194-2 host gene Neighboring gene microRNA 194-2 Neighboring gene microRNA 192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4933 Neighboring gene microRNA 6750 Neighboring gene microRNA 6749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4934 Neighboring gene protein phosphatase 2 regulatory subunit B'beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64691122-64691919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3503 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:64694868-64696067 Neighboring gene glycoprotein hormone subunit alpha 2 Neighboring gene membrane anchored junction protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0404, MGC117153

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-membrane adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in autophagy of peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in glycophagy IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
involved_in piecemeal microautophagy of the nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of autophagosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in reticulophagy IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
 
is_active_in organelle membrane contact site IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in phagophore IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in phagophore assembly site membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
autophagy-related protein 2 homolog A
Names
ATG2 autophagy related 2 homolog A
bridge-like lipid transfer protein family member 4A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001367971.1NP_001354900.1  autophagy-related protein 2 homolog A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP001187
    UniProtKB/TrEMBL
    H7C3T2
  2. NM_001367972.1NP_001354901.1  autophagy-related protein 2 homolog A isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP001187
    UniProtKB/TrEMBL
    H7C3T2
  3. NM_015104.3NP_055919.2  autophagy-related protein 2 homolog A isoform 1

    See identical proteins and their annotated locations for NP_055919.2

    Status: VALIDATED

    Source sequence(s)
    AP001187, BC110650
    Consensus CDS
    CCDS31602.1
    UniProtKB/Swiss-Prot
    O43154, Q14DM2, Q2TAZ0, Q6ZTV2, Q7Z6K8, Q8IVY5, Q8TAI8, Q96HH7
    UniProtKB/TrEMBL
    H7C3T2
    Related
    ENSP00000366475.3, ENST00000377264.8
    Conserved Domains (2) summary
    pfam09333
    Location:18391932
    ATG_C; Autophagy-related protein C terminal domain
    pfam12624
    Location:14108
    Chorein_N; N-terminal region of Chorein or VPS13

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    64894546..64917209 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544863.3XP_011543165.1  autophagy-related protein 2 homolog A isoform X1

    UniProtKB/TrEMBL
    H7C3T2
    Related
    ENSP00000413716.1, ENST00000418259.5
    Conserved Domains (2) summary
    pfam09333
    Location:18411934
    ATG_C; Autophagy-related protein C terminal domain
    pfam12624
    Location:14108
    Chorein_N; N-terminal region of Chorein or VPS13
  2. XM_011544866.3XP_011543168.1  autophagy-related protein 2 homolog A isoform X2

    UniProtKB/TrEMBL
    H7C3T2
    Conserved Domains (1) summary
    pfam12624
    Location:14108
    Chorein_N; N-terminal region of Chorein or VPS13
  3. XM_011544867.4XP_011543169.1  autophagy-related protein 2 homolog A isoform X3

    Conserved Domains (1) summary
    pfam12624
    Location:14108
    Chorein_N; N-terminal region of Chorein or VPS13

RNA

  1. XR_007062462.1 RNA Sequence

  2. XR_949848.3 RNA Sequence

  3. XR_949847.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    64887785..64910450 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368138.1XP_054224113.1  autophagy-related protein 2 homolog A isoform X1

    UniProtKB/TrEMBL
    H7C3T2
  2. XM_054368139.1XP_054224114.1  autophagy-related protein 2 homolog A isoform X2

    UniProtKB/TrEMBL
    H7C3T2
  3. XM_054368140.1XP_054224115.1  autophagy-related protein 2 homolog A isoform X3

RNA

  1. XR_008488364.1 RNA Sequence

  2. XR_008488366.1 RNA Sequence

  3. XR_008488365.1 RNA Sequence