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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

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. Diseases associated with SMAP2 include dentin dysplasia, type i, with microdontia and misshapen teeth. Among its related pathways are Endocytosis. 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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAP2 Gene

Genomics for SMAP2 Gene

Regulatory Elements for SMAP2 Gene

Promoters for SMAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMAP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMAP2 Gene

Chromosome:
1
Start:
40,344,844 bp from pter
End:
40,423,326 bp from pter
Size:
78,483 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

Proteomics data for SMAP2 Gene at MOPED

Post-translational modifications for SMAP2 Gene

  • Ubiquitination at Lys 66
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMAP2 Gene

Domains & Families for SMAP2 Gene

Gene Families for SMAP2 Gene

Protein Domains for SMAP2 Gene

Suggested Antigen Peptide Sequences for SMAP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WU79

UniProtKB/Swiss-Prot:

SMAP2_HUMAN :
  • Contains 1 Arf-GAP domain.
Domain:
  • Contains 1 Arf-GAP domain.
genes like me logo Genes that share domains with SMAP2: view

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).

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

Phenotypes for SMAP2 Gene

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

Animal Models for SMAP2 Gene

MGI Knock Outs for SMAP2:

Animal Model Products

CRISPR Products

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
Jensen Localization Image for SMAP2 Gene COMPARTMENTS Subcellular localization image for SMAP2 gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for SMAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with SMAP2: view

Pathways & Interactions for SMAP2 Gene

SuperPathways for SMAP2 Gene

Superpath 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

None

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:

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 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, PaxDb, MOPED, and MaxQB for SMAP2 Gene



SOURCE GeneReport for Unigene cluster for SMAP2 Gene Hs.15200

genes like me logo Genes that share expression patterns with SMAP2: view

Protein tissue co-expression partners for SMAP2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia SMAP2 35
  • 92.31 (n)
  • 94.87 (a)
SMAP2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMAP2 35
  • 93.07 (n)
  • 94.13 (a)
SMAP2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smap2 35
  • 91.04 (n)
  • 94.63 (a)
Smap2 16
Smap2 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMAP2 35
  • 99.61 (n)
  • 100 (a)
SMAP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smap2 35
  • 90.65 (n)
  • 94.63 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 66 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SMAP2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMAP2 35
  • 76.84 (n)
  • 79.58 (a)
SMAP2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMAP2 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smap2 35
  • 70.71 (n)
  • 70.48 (a)
zebrafish
(Danio rerio)
Actinopterygii smap2 35
  • 62.01 (n)
  • 60.05 (a)
smap2 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8243 35
  • 48.83 (n)
  • 41.89 (a)
CG8243 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W09D10.1 36
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE2 36
  • 31 (a)
OneToMany
AGE2 38
corn
(Zea mays)
Liliopsida Zm.933 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9042 36
  • 34 (a)
ManyToMany
Species with no ortholog for SMAP2:
  • 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)

Paralogs for SMAP2 Gene

Paralogs for SMAP2 Gene

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

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 Sequence Context AA Info Type
rs34845213 - 40,416,797(-) CTGAG(C/T)GGGAG reference, missense
rs112055 -- 40,372,393(-) atgcc(A/G)gagcc intron-variant, upstream-variant-2KB
rs182349 -- 40,410,829(-) AAGGT(A/C)TAAAT intron-variant
rs186006 -- 40,379,604(+) tacag(G/T)ggtgc intron-variant
rs186007 -- 40,404,510(-) ATCAT(C/T)TAAGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv870632 CNV Gain 21882294

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)

Relevant External Links for SMAP2 Gene

HapMap Linkage Disequilibrium report
SMAP2

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

Disorders for SMAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMAP2 Gene - From: OMIM

Disorder Aliases PubMed IDs
dentin dysplasia, type i, with microdontia and misshapen teeth
  • dentin dysplasia, type 1
- elite association - COSMIC cancer census association via MalaCards
Search SMAP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMAP2

Genetic Association Database (GAD)
SMAP2
Human Genome Epidemiology (HuGE) Navigator
SMAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMAP2
genes like me logo Genes that share disorders with SMAP2: view

No data available for 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 J.Y. … Shin H.D. (J Asthma 2010) 3 48 67
  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. (Mol. Biol. Cell 2006) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. The Arf GTPase-activating protein SMAP1 promotes transferrin receptor endocytosis and interacts with SMAP2. (PMID: 25281535) Kobayashi N. … Tanabe K. (Biochem. Biophys. Res. Commun. 2014) 3

Products for SMAP2 Gene

Sources for SMAP2 Gene

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