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    ATL2 atlastin GTPase 2 [ Homo sapiens (human) ]

    Gene ID: 64225, updated on 30-Mar-2024

    Summary

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    Official Symbol
    ATL2provided by HGNC
    Official Full Name
    atlastin GTPase 2provided by HGNC
    Primary source
    HGNC:HGNC:24047
    See related
    Ensembl:ENSG00000119787 MIM:609368; AllianceGenome:HGNC:24047
    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
    aip-2; ARL3IP2; ARL6IP2; atlastin2
    Summary
    Enables identical protein binding activity. Involved in Golgi organization; endoplasmic reticulum tubular network membrane organization; and protein homooligomerization. Located in endoplasmic reticulum tubular network membrane. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.5), skin (RPKM 9.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p22.2-p22.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38293954..38378584, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38300848..38385467, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (38521096..38605726, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374467 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:38504193-38505176 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38505177-38506160 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 25 Neighboring gene MPRA-validated peak3663 silencer Neighboring gene MPRA-validated peak3664 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:38578692-38579192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:38580665-38581166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:38581167-38581666 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:38603507-38604008 and GRCh37_chr2:38604009-38604508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11372 Neighboring gene MPRA-validated peak3665 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38624132-38624632 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:38633814-38634453 Neighboring gene uncharacterized LOC105374468 Neighboring gene long intergenic non-protein coding RNA 1883

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. An intramolecular salt bridge drives the soluble domain of GTP-bound atlastin into the postfusion conformation. Morin-Leisk J, et al. J Cell Biol, 2011 Nov 14. PMID 22065636, Free PMC Article
    2. Reconstitution of human atlastin fusion activity reveals autoinhibition by the C terminus. Crosby D, et al. J Cell Biol, 2022 Feb 7. PMID 34817557, Free PMC Article
    3. Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate autophagy. Liu N, et al. J Cell Biol, 2021 Jul 5. PMID 33988678, Free PMC Article
    4. Human atlastin GTPases mediate differentiated fusion of endoplasmic reticulum membranes. Hu X, et al. Protein Cell, 2015 Apr. PMID 25773277, Free PMC Article
    5. Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology. Zhao G, et al. Exp Cell Res, 2016 Nov 15. PMID 27669642

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reconstitution of human atlastin fusion activity reveals autoinhibition by the C terminus.
      Title: Reconstitution of human atlastin fusion activity reveals autoinhibition by the C terminus.
    2. Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate autophagy.
      Title: Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate autophagy.
    3. These results suggest that the three ATLs have different capacities to mediate endoplasmic reticulum fusion, with ATL1 being the strongest and ATL3 being the weakest.
      Title: Human atlastin GTPases mediate differentiated fusion of endoplasmic reticulum membranes.
    4. The role of GTP hydrolysis in the ATL2 fusion mechanism also needs to be tempered by the uncertainty of whether the behavior of the ATL2 soluble domain, observed herein, reflects the behavior of the full-length, membrane-anchored protein.
      Title: An intramolecular salt bridge drives the soluble domain of GTP-bound atlastin into the postfusion conformation.
    5. A family of human GTPases, atlastin-2 and -3 that are closely related to atlastin-1 are described.
      Title: Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23293

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum tubular network membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein homooligomerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum tubular network membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    atlastin-2
    Names
    ADP-ribosylation factor-like protein 6-interacting protein 2
    ARL-6-interacting protein 2
    NP_001129145.1
    NP_001295005.1
    NP_001317387.1
    NP_001317388.1
    NP_001317389.1
    NP_001317390.1
    NP_001317391.1
    NP_001317392.1
    NP_001317393.1
    NP_071769.2

    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_001135673.4 → NP_001129145.1  atlastin-2 isoform 2

      See identical proteins and their annotated locations for NP_001129145.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice acceptor site in the 3' terminal exon, compared to variant 1. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC016995, AI630457, AK225190, BC039050
      Consensus CDS
      CCDS46260.1
      UniProtKB/Swiss-Prot
      B7Z1X2, B7Z7X8, Q4ZG30, Q7Z630, Q8NHH8, Q8NHH9, Q9H5M7
      Related
      ENSP00000368237.4, ENST00000378954.9
      Conserved Domains (1) summary
      pfam02263
      Location:70 → 341
      GBP; Guanylate-binding protein, N-terminal domain

    2. NM_001308076.1 → NP_001295005.1  atlastin-2 isoform 3

      See identical proteins and their annotated locations for NP_001295005.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, resulting in translation initiation at an alternate start codon, and uses an alternate splice acceptor site in the 3' terminal exon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AC016995, AI630457, AK302621, BC039050, BX507348
      Consensus CDS
      CCDS77402.1
      UniProtKB/Swiss-Prot
      Q8NHH9
      Related
      ENSP00000390743.2, ENST00000452935.6
      Conserved Domains (1) summary
      pfam02263
      Location:52 → 323
      GBP; Guanylate-binding protein, N-terminal domain

    3. NM_001330458.2 → NP_001317387.1  atlastin-2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC016995, AK308894, BC039050, BC053508
      Consensus CDS
      CCDS86831.1
      UniProtKB/TrEMBL
      B7Z8V5
      Related
      ENSP00000498813.1, ENST00000651368.1
      Conserved Domains (1) summary
      cl21455
      Location:1 → 170
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_001330459.1 → NP_001317388.1  atlastin-2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC016995, AK294049, AK302621
      UniProtKB/Swiss-Prot
      Q8NHH9

    5. NM_001330460.1 → NP_001317389.1  atlastin-2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC016995, AK294711, AK302621
      Consensus CDS
      CCDS82436.1
      UniProtKB/TrEMBL
      B5MCN0, B7Z2H0
      Conserved Domains (1) summary
      cl21455
      Location:1 → 170
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    6. NM_001330461.2 → NP_001317390.1  atlastin-2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC016995
      Consensus CDS
      CCDS82436.1
      UniProtKB/TrEMBL
      B5MCN0, B7Z2H0
      Related
      ENSP00000385446.1, ENST00000406122.5
      Conserved Domains (1) summary
      cl21455
      Location:1 → 170
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    7. NM_001330462.1 → NP_001317391.1  atlastin-2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC016995
      Conserved Domains (1) summary
      pfam02263
      Location:65 → 336
      GBP; Guanylate-binding protein, N-terminal domain

    8. NM_001330463.2 → NP_001317392.1  atlastin-2 isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) contains an alternate in-frame exon in the 3' region compared to variant 1. It encodes isoform (8), which is longer than isoform 1.
      Source sequence(s)
      AC016995
      Conserved Domains (1) summary
      pfam02263
      Location:70 → 341
      GBP; Guanylate-binding protein, N-terminal domain

    9. NM_001330464.2 → NP_001317393.1  atlastin-2 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC016995
      UniProtKB/TrEMBL
      B7Z8V5

    10. NM_022374.5 → NP_071769.2  atlastin-2 isoform 1

      See identical proteins and their annotated locations for NP_071769.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC016995, AI630457, AK026946, AK124434, BC039050
      Consensus CDS
      CCDS1795.1
      UniProtKB/Swiss-Prot
      Q8NHH9
      Related
      ENSP00000415336.2, ENST00000419554.6
      Conserved Domains (1) summary
      pfam02263
      Location:70 → 341
      GBP; Guanylate-binding protein, N-terminal domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      38293954..38378584 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      38300848..38385467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHH9.2 GenPept UniProtKB/Swiss-Prot:Q8NHH9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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