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Aliases for SMAP2 Gene

Aliases for SMAP2 Gene

  • Small ArfGAP2 2 3 5
  • Stromal Membrane-Associated GTPase-Activating Protein 2 2 3
  • Stromal Membrane-Associated Protein 1-Like 2 4
  • SMAP1L 3 4
  • Stromal Membrane-Associated Protein 2 3

External Ids for SMAP2 Gene

Previous HGNC Symbols for SMAP2 Gene

  • SMAP1L

Previous GeneCards Identifiers for SMAP2 Gene

  • GC01P040614
  • GC01P040810
  • GC01P038958

Summaries for SMAP2 Gene

GeneCards Summary for SMAP2 Gene

SMAP2 (Small ArfGAP2) is a Protein Coding gene. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is SMAP1.

UniProtKB/Swiss-Prot for SMAP2 Gene

  • GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity).

Additional gene information for SMAP2 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 SMAP2 Gene

Genomics for SMAP2 Gene

GeneHancer (GH) Regulatory Elements for SMAP2 Gene

Promoters and enhancers for SMAP2 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
GH01J040372 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 689.6 +31.0 31009 5.9 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 NBN SMAP2 PPIEL EXO5 PPIE TRIT1 ENSG00000259943 NFYC-AS1 RLF LOC105378674 ENSG00000229528
GH01J040344 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 656.3 +0.2 152 1.6 HDAC1 PKNOX1 RAD21 ZNF121 ZNF316 ZNF366 EGR1 SMARCE1 HMG20B PHF21A SMAP2 ENSG00000213172
GH01J040346 Enhancer 0.6 Ensembl 650.7 +1.8 1757 1.2 ZSCAN4 ZFP64 ZC3H11A ZNF623 ZNF781 ZNF518A ZNF697 NFIC SMAP2 ENSG00000259943 EXO5 PPIE PPIEL TRIT1 LOC101929516 SNORA55 NFYC ENSG00000213172
GH01J040379 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 49.3 +43.9 43922 19.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B FEZF1 DMAP1 ZNF2 IRF4 SMAP2 RLF ENSG00000231296 ZMPSTE24 EXO5 LOC105378672 CAP1 MFSD2A PPT1 NFYC
GH01J040398 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.8 +57.5 57469 7 HDGF PKNOX1 SMAD1 ATF1 FOXA2 ARNT IRF4 NCOA2 YY1 TCF12 NFYC SMAP2 RLF GC01M040364 GC01P040432
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMAP2 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • deltaCREB
  • p53
  • CREB
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • FosB

Genomic Locations for SMAP2 Gene

Genomic Locations for SMAP2 Gene
chr1:40,344,844-40,423,326
(GRCh38/hg38)
Size:
78,483 bases
Orientation:
Plus strand
chr1:40,810,522-40,888,998
(GRCh37/hg19)
Size:
78,477 bases
Orientation:
Plus strand

Genomic View for SMAP2 Gene

Genes around SMAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMAP2 Gene

Proteins for SMAP2 Gene

  • Protein details for SMAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WU79-SMAP2_HUMAN
    Recommended name:
    Stromal membrane-associated protein 2
    Protein Accession:
    Q8WU79
    Secondary Accessions:
    • B2R7T1
    • B7Z5B5
    • B7Z8V2
    • D3DPV2
    • Q5QPL2
    • Q96C93
    • Q9NST2
    • Q9UJL8

    Protein attributes for SMAP2 Gene

    Size:
    429 amino acids
    Molecular mass:
    46786 Da
    Quaternary structure:
    • Interacts with ARF1. Interacts with PICALM and clathrin heavy chains (By similarity).

    Three dimensional structures from OCA and Proteopedia for SMAP2 Gene

    Alternative splice isoforms for SMAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMAP2 Gene

Post-translational modifications for SMAP2 Gene

  • Ubiquitination at posLast=6666
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMAP2 Gene

Domains & Families for SMAP2 Gene

Gene Families for SMAP2 Gene

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

Protein Domains for SMAP2 Gene

Suggested Antigen Peptide Sequences for SMAP2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SMAP2: view

No data available for UniProtKB/Swiss-Prot for SMAP2 Gene

Function for SMAP2 Gene

Molecular function for SMAP2 Gene

UniProtKB/Swiss-Prot Function:
GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity).

Phenotypes From GWAS Catalog for SMAP2 Gene

Gene Ontology (GO) - Molecular Function for SMAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0031267 small GTPase binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SMAP2: view
genes like me logo Genes that share phenotypes with SMAP2: view

Animal Models for SMAP2 Gene

MGI Knock Outs for SMAP2:

Animal Model Products

Clone Products

  • Addgene plasmids for SMAP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMAP2 Gene

Localization for SMAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMAP2 Gene

Cytoplasm. Note=Detected in multiple foci throughout the cytoplasm and in juxtanuclear structures. {ECO:0000250}.

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 SMAP2 gene
Compartment Confidence
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for SMAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA --
GO:0016020 membrane IBA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with SMAP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMAP2 Gene

Pathways & Interactions for SMAP2 Gene

SuperPathways for SMAP2 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with SMAP2: view

Pathways by source for SMAP2 Gene

1 KEGG pathway for SMAP2 Gene

Gene Ontology (GO) - Biological Process for SMAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 vesicle-mediated transport IBA --
GO:0032012 regulation of ARF protein signal transduction IBA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with SMAP2: view

No data available for SIGNOR curated interactions for SMAP2 Gene

Drugs & Compounds for SMAP2 Gene

No Compound Related Data Available

Transcripts for SMAP2 Gene

Unigene Clusters for SMAP2 Gene

Small ArfGAP2:
Representative Sequences:

Clone Products

  • Addgene plasmids for SMAP2

Alternative Splicing Database (ASD) splice patterns (SP) for SMAP2 Gene

No ASD Table

Relevant External Links for SMAP2 Gene

GeneLoc Exon Structure for
SMAP2
ECgene alternative splicing isoforms for
SMAP2

Expression for SMAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMAP2 Gene

This gene is overexpressed in Whole Blood (x22.1).

Protein differential expression in normal tissues from HIPED for SMAP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.7) and Lymph node (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMAP2 Gene



Protein tissue co-expression partners for SMAP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SMAP2 Gene:

SMAP2

SOURCE GeneReport for Unigene cluster for SMAP2 Gene:

Hs.15200

Evidence on tissue expression from TISSUES for SMAP2 Gene

  • Nervous system(4.8)
  • Blood(4.5)
  • Intestine(4.4)
  • Liver(4.4)
  • Spleen(2.5)
  • Lymph node(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with SMAP2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMAP2 Gene

Orthologs for SMAP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMAP2 34 33
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SMAP2 34 33
  • 93.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SMAP2 34 33
  • 92.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Smap2 16 34 33
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Smap2 33
  • 90.65 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SMAP2 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMAP2 34 33
  • 76.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMAP2 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smap2 33
  • 70.71 (n)
zebrafish
(Danio rerio)
Actinopterygii smap2 34 33
  • 62.01 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8243 34 33
  • 48.83 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W09D10.1 34
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE2 36 34
  • 31 (a)
corn
(Zea mays)
Liliopsida Zm.933 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9042 34
  • 34 (a)
ManyToMany
Species where no ortholog for SMAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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 SMAP2 Gene

ENSEMBL:
Gene Tree for SMAP2 (if available)
TreeFam:
Gene Tree for SMAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMAP2: view image

Paralogs for SMAP2 Gene

Paralogs for SMAP2 Gene

(2) SIMAP similar genes for SMAP2 Gene using alignment to 1 proteins:

  • SMAP2_HUMAN
genes like me logo Genes that share paralogs with SMAP2: view

Variants for SMAP2 Gene

Sequence variations from dbSNP and Humsavar for SMAP2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000082050 -- 40,387,601(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000138720 -- 40,403,231(+) C/T intron_variant
rs1000169290 -- 40,385,624(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000267416 -- 40,385,051(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000346251 -- 40,422,464(+) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for SMAP2 Gene

Variant ID Type Subtype PubMed ID
esv3585803 CNV loss 21293372
nsv950697 CNV duplication 24416366

Variation tolerance for SMAP2 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.56; 44.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMAP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAP2 Gene

Disorders for SMAP2 Gene

Additional Disease Information for SMAP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SMAP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMAP2 Gene

Publications for SMAP2 Gene

  1. Putative association of SMAPIL polymorphisms with risk of aspirin intolerance in asthmatics. (PMID: 20831471) Kim JY … Shin HD (The Journal of asthma : official journal of the Association for the Care of Asthma 2010) 3 44 58
  2. SMAP2, a novel ARF GTPase-activating protein, interacts with clathrin and clathrin assembly protein and functions on the AP-1-positive early endosome/trans-Golgi network. (PMID: 16571680) Natsume W … Satake M (Molecular biology of the cell 2006) 2 3 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SMAP2 Gene

  • Addgene plasmids for SMAP2

Sources for SMAP2 Gene

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