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
  • Stromal Membrane-Associated Protein 2 3 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 Epiphyseal Dysplasia, Multiple, 3 and Vitreous Syneresis. 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 Summary 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 , Rfam classification and piRNA Summary for SMAP2 Gene

Genomics for SMAP2 Gene

GeneHancer (GH) Regulatory Elements for SMAP2 Gene

Promoters and enhancers for SMAP2 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMAP2

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

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 Lys66
  • 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

Blocks:
  • HIV Rev interacting protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMAP2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79117, highly similar to Stromal membrane-associated protein 1 (B7Z5B5_HUMAN)
  • Stromal membrane-associated protein 1-like (SMAP2_HUMAN)
genes like me logo Genes that share domains with SMAP2: view

No data available for Graphical View of Domain Structure and 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: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

CRISPR 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
nucleus 3
cytosol 3
endosome 1

Gene Ontology (GO) - Cellular Components for SMAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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

PathCards logo

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: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

mRNA/cDNA for SMAP2 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for SMAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SMAP2 31 30
  • 93.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SMAP2 31 30
  • 92.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Smap2 17 31 30
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Smap2 30
  • 90.65 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SMAP2 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMAP2 31 30
  • 76.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMAP2 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smap2 30
  • 70.71 (n)
zebrafish
(Danio rerio)
Actinopterygii smap2 31 30
  • 62.01 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8243 31 30
  • 48.83 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W09D10.1 31
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE2 33 31
  • 31 (a)
corn
(Zea mays)
Liliopsida Zm.933 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9042 31
  • 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

(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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMAP2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs34845213 - p.Ala289Thr

Additional dbSNP identifiers (rs#s) for SMAP2 Gene

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

MalaCards: The human disease database

(4) MalaCards diseases for SMAP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epiphyseal dysplasia, multiple, 3
  • edm3
vitreous syneresis
  • vitreous degeneration
kniest dysplasia
  • kd
epiphyseal dysplasia, multiple, 2
  • edm2
- elite association - COSMIC cancer census association via MalaCards
Search SMAP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMAP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JY … Shin HD (The Journal of asthma : official journal of the Association for the Care of Asthma 2010) 3 41 54
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  3. 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 54
  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 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for SMAP2 Gene

Sources for SMAP2 Gene