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ATL2 atlastin GTPase 2 [ Homo sapiens (human) ]

Gene ID: 64225, updated on 27-Nov-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. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 13.5), skin (RPKM 9.8) and 25 other tissues See more
Orthologs
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Genomic context

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See ATL2 in Genome Data Viewer
Location:
2p22.2-p22.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38293954..38378584, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38300848..38385467, complement)
RS_2024_09 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. Human atlastin GTPases mediate differentiated fusion of endoplasmic reticulum membranes. Hu X, et al. Protein Cell, 2015 Apr. PMID 25773277, Free PMC Article
  4. 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
  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 (46) 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)

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_2024_08

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

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