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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. 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.

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

Genomics for ATL2 Gene

Regulatory Elements for ATL2 Gene

Enhancers for ATL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F038405 1.3 Ensembl ENCODE 20.2 -28.7 -28669 2.6 PKNOX1 ATF1 MLX DMAP1 ZNF48 ZNF766 GATA2 CBX5 SP5 JUNB ATL2 GC02P038403 LOC105374468
GH02F038598 1.2 ENCODE 18.8 -223.1 -223125 6.2 PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ATL2 SOS1 LOC101929596 GALM ENSG00000235586 GC02M038560
GH02F038379 1.4 FANTOM5 Ensembl ENCODE 13.7 -2.5 -2462 2.4 PKNOX1 ARID4B FEZF1 CHAMP1 RARA GATA2 CBX5 SCRT2 ETV6 CREM ATL2 GC02P038403
GH02F038552 0.9 ENCODE 20.1 -174.3 -174295 0.2 HDAC1 PKNOX1 CBX3 ATF1 TBL1XR1 GATA2 ETV6 CREM ZBTB2 ZBTB11 ATL2 ENSG00000235586 HNRNPLL SRSF7 GEMIN6 GALM ENSG00000232518 SOS1 GC02M038560 ENSG00000271443
GH02F038374 1.2 ENCODE 13.2 +1.3 1282 3.9 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 ATL2 CDC42EP3 RPLP0P6 GC02P038367
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATL2 on UCSC Golden Path with GeneCards custom track

Promoters for ATL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001541354 1539 3201 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21

Genomic Location for ATL2 Gene

Chromosome:
2
Start:
38,294,094 bp from pter
End:
38,378,139 bp from pter
Size:
84,046 bases
Orientation:
Minus strand

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 Lys 372 and Lys 567
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATL2 Gene

Domains & Families for ATL2 Gene

Protein Domains for ATL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NHH9

UniProtKB/Swiss-Prot:

ATLA2_HUMAN :
  • Contains 1 GB1/RHD3-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
Domain:
  • Contains 1 GB1/RHD3-type G (guanine nucleotide-binding) domain.
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

No data available for Gene Families for ATL2 Gene

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.

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 IEA,NAS 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 tm2b(EUCOMM)Hmgu

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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.

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

Gene Ontology (GO) - Cellular Components for ATL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 18270207
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA,IDA 18270207
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
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

Transcripts for ATL2 Gene

Unigene Clusters for ATL2 Gene

Atlastin GTPase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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, PaxDb, 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).
genes like me logo Genes that share expression patterns with ATL2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia ATL2 34 35
  • 95.77 (n)
cow
(Bos Taurus)
Mammalia ATL2 34 35
  • 94.51 (n)
mouse
(Mus musculus)
Mammalia Atl2 34 16 35
  • 91.42 (n)
rat
(Rattus norvegicus)
Mammalia Atl2 34
  • 91.37 (n)
oppossum
(Monodelphis domestica)
Mammalia ATL2 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 52 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATL2 34 35
  • 81.33 (n)
lizard
(Anolis carolinensis)
Reptilia ATL2 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atl2 34
  • 76.37 (n)
Str.3803 34
zebrafish
(Danio rerio)
Actinopterygii atl2 34 35
  • 70.68 (n)
wufv60d03 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002047 34
  • 57.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta atl 34 35
  • 55.86 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54G2A.2 34
  • 55.26 (n)
atln-1 35
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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 Sequence Context AA Info Type
rs10084313 -- 38,337,380(+) acttg(A/G)gaggc intron-variant
rs10164581 -- 38,350,349(+) CACAC(A/G)TTAAC intron-variant
rs10167268 -- 38,303,474(+) ggcat(A/G)agcca intron-variant
rs10169202 -- 38,309,134(+) CATAT(C/G)TGAGA intron-variant
rs10171784 -- 38,380,185(+) ctatg(G/T)aggag upstream-variant-2KB

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)

Relevant External Links for ATL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATL2

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

Disorders for ATL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATL2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 3a
  • 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

Relevant External Links for ATL2

Genetic Association Database (GAD)
ATL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Hum. Mol. Genet. 2008) 2 3 4 64
  2. Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. (PMID: 23969831) Chang J. … Blackstone C. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
  3. 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 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit. (PMID: 10508919) Ingley E. … Klinken S.P. (FEBS Lett. 1999) 2 3 64

Products for ATL2 Gene

Sources for ATL2 Gene

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