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Aliases for ATL2 Gene

Aliases for ATL2 Gene

  • Atlastin GTPase 2 2 3 5
  • ADP-Ribosylation Factor-Like Protein 6-Interacting Protein 2 3 4
  • ARL-6-Interacting Protein 2 3 4
  • ARL6IP2 3 4
  • Aip-2 3 4
  • ADP-Ribosylation Factor-Like 6 Interacting Protein 2 2
  • Atlastin-2 3
  • EC 3.6.5.- 4
  • Atlastin2 3
  • ARL3IP2 3

External Ids for ATL2 Gene

Previous HGNC Symbols for ATL2 Gene

  • ARL6IP2

Previous GeneCards Identifiers for ATL2 Gene

  • GC02M038375
  • GC02M038522
  • GC02M038262

Summaries for ATL2 Gene

GeneCards Summary for ATL2 Gene

ATL2 (Atlastin GTPase 2) is a Protein Coding gene. Diseases associated with ATL2 include Spastic Paraplegia 3A and Hereditary Spastic Paraplegia. Gene Ontology (GO) annotations related to this gene include identical protein binding and GTPase activity. An important paralog of this gene is ATL1.

UniProtKB/Swiss-Prot for ATL2 Gene

  • GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:18270207, PubMed:19665976, PubMed:27619977).

Additional gene information for ATL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATL2 Gene

Genomics for ATL2 Gene

GeneHancer (GH) Regulatory Elements for ATL2 Gene

Promoters and enhancers for ATL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J038374 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 663.2 +1.3 1282 3.9 CLOCK MLX DMAP1 YY1 ZNF213 ZNF143 SP3 MEF2D GLIS1 NBN ATL2 RPLP0P6 SRSF7 CDC42EP3 ENSG00000252473 GC02P038367 GC02M038108
GH02J038432 Enhancer 1.4 Ensembl ENCODE dbSUPER 22.2 -55.1 -55052 1.5 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 ZNF48 ETS1 YY1 SLC30A9 ATL2 LOC101929596 SOS1 GALM ENSG00000232518 DHX57 LINC01883 RPLP0P6 GC02M038108
GH02J038598 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 -223.1 -223125 6.2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ENSG00000235586 PIR45803 HNRNPLL SRSF7 DHX57 SOS1 ATL2 LOC101929596 GALM GC02M038560
GH02J038405 Enhancer 1.1 Ensembl ENCODE 20.3 -28.7 -28668 2.6 FOXA2 MLX DMAP1 ZNF48 NFKBIZ RXRA SP5 MXD4 MIER2 REST ATL2 DHX57 HNRNPLL GC02P038403 LOC105374468 GC02M038108 LOC101929596
GH02J038777 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.1 -400.3 -400309 2 HDGF SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B GEMIN6 SRSF7 ATL2 GALM LOC100529111 ASS1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATL2 gene promoter:

Genomic Locations for ATL2 Gene

Genomic Locations for ATL2 Gene
chr2:38,294,094-38,378,139
(GRCh38/hg38)
Size:
84,046 bases
Orientation:
Minus strand
chr2:38,522,022-38,604,432
(GRCh37/hg19)

Genomic View for ATL2 Gene

Genes around ATL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATL2 Gene

Proteins for ATL2 Gene

  • Protein details for ATL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHH9-ATLA2_HUMAN
    Recommended name:
    Atlastin-2
    Protein Accession:
    Q8NHH9
    Secondary Accessions:
    • B7Z1X2
    • B7Z7X8
    • Q4ZG30
    • Q7Z630
    • Q8NHH8
    • Q9H5M7

    Protein attributes for ATL2 Gene

    Size:
    583 amino acids
    Molecular mass:
    66229 Da
    Quaternary structure:
    • Interacts with REEP5 and RTN3 (PubMed:19665976). Interacts with ZFYVE27 (PubMed:23969831).

    Alternative splice isoforms for ATL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATL2 Gene

Post-translational modifications for ATL2 Gene

  • Ubiquitination at Lys567 and posLast=372372
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATL2 Gene

Domains & Families for ATL2 Gene

Gene Families for ATL2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ATL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NHH9

UniProtKB/Swiss-Prot:

ATLA2_HUMAN :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
genes like me logo Genes that share domains with ATL2: view

Function for ATL2 Gene

Molecular function for ATL2 Gene

UniProtKB/Swiss-Prot Function:
GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:18270207, PubMed:19665976, PubMed:27619977).

Enzyme Numbers (IUBMB) for ATL2 Gene

Gene Ontology (GO) - Molecular Function for ATL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity NAS,IEA 18270207
GO:0005515 protein binding IPI 19665976
GO:0005525 GTP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IDA 18270207
genes like me logo Genes that share ontologies with ATL2: view
genes like me logo Genes that share phenotypes with ATL2: view

Animal Models for ATL2 Gene

MGI Knock Outs for ATL2:
  • Atl2 Atl2<tm2b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATL2

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATL2 Gene

Localization for ATL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATL2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Localizes at endoplasmic reticulum (ER) three-way tubular junctions (PubMed:27619977). {ECO:0000269 PubMed:27619977}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATL2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
peroxisome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 18270207
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA,IDA 18270207
GO:0098826 endoplasmic reticulum tubular network membrane IDA 27619977
genes like me logo Genes that share ontologies with ATL2: view

Pathways & Interactions for ATL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 NOT ER to Golgi vesicle-mediated transport IMP 18270207
GO:0007029 endoplasmic reticulum organization IMP 18270207
GO:0007030 Golgi organization IMP 18270207
GO:0051260 protein homooligomerization IDA 18270207
GO:1990809 endoplasmic reticulum tubular network membrane organization IMP 27619977
genes like me logo Genes that share ontologies with ATL2: view

No data available for Pathways by source and SIGNOR curated interactions for ATL2 Gene

Drugs & Compounds for ATL2 Gene

No Compound Related Data Available

Transcripts for ATL2 Gene

Unigene Clusters for ATL2 Gene

Atlastin GTPase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATL2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATL2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - -
SP2: - - - - -
SP3: - - - - -
SP4:
SP5:
SP6: -

Relevant External Links for ATL2 Gene

GeneLoc Exon Structure for
ATL2
ECgene alternative splicing isoforms for
ATL2

Expression for ATL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATL2 Gene

Protein differential expression in normal tissues from HIPED for ATL2 Gene

This gene is overexpressed in Breast (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATL2 Gene



Protein tissue co-expression partners for ATL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATL2 Gene:

ATL2

SOURCE GeneReport for Unigene cluster for ATL2 Gene:

Hs.727652

mRNA Expression by UniProt/SwissProt for ATL2 Gene:

Q8NHH9-ATLA2_HUMAN
Tissue specificity: Expressed in peripheral tissues (at protein level).

Evidence on tissue expression from TISSUES for ATL2 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with ATL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATL2 Gene

Orthologs for ATL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATL2 34 33
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATL2 34 33
  • 95.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATL2 34 33
  • 94.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atl2 16 34 33
  • 91.42 (n)
rat
(Rattus norvegicus)
Mammalia Atl2 33
  • 91.37 (n)
oppossum
(Monodelphis domestica)
Mammalia ATL2 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATL2 34 33
  • 81.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATL2 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atl2 33
  • 76.37 (n)
Str.3803 33
zebrafish
(Danio rerio)
Actinopterygii atl2 34 33
  • 70.68 (n)
OneToOne
wufv60d03 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002047 33
  • 57.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta atl 34 33
  • 55.86 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y54G2A.2 33
  • 55.26 (n)
atln-1 34
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
Species where no ortholog for ATL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATL2 Gene

ENSEMBL:
Gene Tree for ATL2 (if available)
TreeFam:
Gene Tree for ATL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATL2: view image

Paralogs for ATL2 Gene

Paralogs for ATL2 Gene

genes like me logo Genes that share paralogs with ATL2: view

Variants for ATL2 Gene

Sequence variations from dbSNP and Humsavar for ATL2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000027343 -- 38,356,501(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000060736 -- 38,353,407(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000063604 -- 38,352,669(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000078218 -- 38,320,692(-) C/A/T intron_variant
rs1000108459 -- 38,319,543(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATL2 Gene

Variant ID Type Subtype PubMed ID
esv2176515 CNV deletion 18987734
esv2675128 CNV deletion 23128226
esv2719945 CNV deletion 23290073
esv3350117 CNV insertion 20981092
esv3555199 CNV deletion 23714750
esv3583745 CNV loss 25503493
esv3583746 CNV loss 25503493
nsv1134859 CNV deletion 24896259
nsv9646 CNV loss 18304495

Variation tolerance for ATL2 Gene

Residual Variation Intolerance Score: 57.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.30; 92.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATL2 Gene

Human Gene Mutation Database (HGMD)
ATL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATL2 Gene

Disorders for ATL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATL2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 3a
  • spastic paraplegia 3, autosomal dominant
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search ATL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATL2

genes like me logo Genes that share disorders with ATL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATL2 Gene

Publications for ATL2 Gene

  1. Atlastin GTPases are required for Golgi apparatus and ER morphogenesis. (PMID: 18270207) Rismanchi N … Blackstone C (Human molecular genetics 2008) 2 3 4 58
  2. Cooperation of the ER-shaping proteins atlastin, lunapark, and reticulons to generate a tubular membrane network. (PMID: 27619977) Wang S … Rapoport TA (eLife 2016) 3 4 58
  3. Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. (PMID: 23969831) Chang J … Blackstone C (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
  4. A class of dynamin-like GTPases involved in the generation of the tubular ER network. (PMID: 19665976) Hu J … Blackstone C (Cell 2009) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ATL2 Gene

Sources for ATL2 Gene

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