Human Gene ATL2 (ENST00000378954.9_12) from GENCODE V47lift37
  Description: atlastin GTPase 2, transcript variant 2 (from RefSeq NM_001135673.4)
Gencode Transcript: ENST00000378954.9_12
Gencode Gene: ENSG00000119787.14_15
Transcript (Including UTRs)
   Position: hg19 chr2:38,521,096-38,604,415 Size: 83,320 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr2:38,523,136-38,604,402 Size: 81,267 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:38,521,096-38,604,415)mRNA (may differ from genome)Protein (583 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATLA2_HUMAN
DESCRIPTION: RecName: Full=Atlastin-2; EC=3.6.5.-; AltName: Full=ADP-ribosylation factor-like protein 6-interacting protein 2; Short=ARL-6-interacting protein 2; Short=Aip-2;
FUNCTION: GTPase tethering membranes through formation of trans- homooligomer and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis.
SUBUNIT: Interacts with REEP5 and RTN3.
INTERACTION: Q60870:Reep5 (xeno); NbExp=2; IntAct=EBI-2410430, EBI-2410304; Q9ES97-3:Rtn3 (xeno); NbExp=2; IntAct=EBI-2410430, EBI-1487798;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed in peripheral tissues (at protein level).
SIMILARITY: Belongs to the GBP family. Atlastin subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATL2
Diseases sorted by gene-association score: spastic paraplegia 3a (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.00 RPKM in Esophagus - Gastroesophageal Junction
Total median expression: 645.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -504.502040-0.247 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003191 - Guanylate-bd_C
IPR015894 - Guanylate-bd_N

Pfam Domains:
PF02263 - Guanylate-binding protein, N-terminal domain
PF02841 - Guanylate-binding protein, C-terminal domain

SCOP Domains:
48340 - Interferon-induced guanylate-binding protein 1 (GBP1), C-terminal domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q8NHH9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0016787 hydrolase activity
GO:0042802 identical protein binding

Biological Process:
GO:0007029 endoplasmic reticulum organization
GO:0007030 Golgi organization
GO:0051260 protein homooligomerization
GO:1990809 endoplasmic reticulum tubular network membrane organization
GO:0006888 ER to Golgi vesicle-mediated transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0098826 endoplasmic reticulum tubular network membrane


-  Descriptions from all associated GenBank mRNAs
  BC039050 - Homo sapiens ADP-ribosylation factor-like 6 interacting protein 2, mRNA (cDNA clone IMAGE:3450768), partial cds.
AK225190 - Homo sapiens mRNA for ARL6IP2 variant, clone: COL01262.
AK302621 - Homo sapiens cDNA FLJ51152 complete cds, highly similar to Homo sapiens ADP-ribosylation factor-like 6 interacting protein 2 (ARL6IP2), mRNA.
AK303985 - Homo sapiens cDNA FLJ51186 complete cds, highly similar to Homo sapiens ADP-ribosylation factor-like 6 interacting protein 2 (ARL6IP2), mRNA.
AK294049 - Homo sapiens cDNA FLJ53876 complete cds, highly similar to Homo sapiens ADP-ribosylation factor-like 6 interacting protein 2 (ARL6IP2), mRNA.
BC053508 - Homo sapiens atlastin GTPase 2, mRNA (cDNA clone MGC:59735 IMAGE:6338889), complete cds.
AK026946 - Homo sapiens cDNA: FLJ23293 fis, clone HEP10514.
KJ903069 - Synthetic construct Homo sapiens clone ccsbBroadEn_12463 ATL2 gene, encodes complete protein.
AK294711 - Homo sapiens cDNA FLJ57300 complete cds, highly similar to Homo sapiens ADP-ribosylation factor-like 6 interacting protein 2 (ARL6IP2), mRNA.
AK308894 - Homo sapiens cDNA, FLJ98935.
CU690972 - Synthetic construct Homo sapiens gateway clone IMAGE:100022512 5' read ARL6IP2 mRNA.
AK124434 - Homo sapiens cDNA FLJ42443 fis, clone BLADE2008461.
AK316179 - Homo sapiens cDNA, FLJ79078 complete cds, highly similar to Mus musculus ADP-ribosylation factor-like 6 interacting protein 2.

-  Other Names for This Gene
  Alternate Gene Symbols: ARL6IP2, ATLA2_HUMAN, B7Z1X2, B7Z7X8, ENST00000378954.1, ENST00000378954.2, ENST00000378954.3, ENST00000378954.4, ENST00000378954.5, ENST00000378954.6, ENST00000378954.7, ENST00000378954.8, NM_001135673, Q4ZG30, Q7Z630, Q8NHH8, Q8NHH9, Q9H5M7, uc318oql.1, uc318oql.2
UCSC ID: ENST00000378954.9_12
RefSeq Accession: NM_001135673.4
Protein: Q8NHH9 (aka ATLA2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.