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Aliases for SCFD2 Gene

Aliases for SCFD2 Gene

  • Sec1 Family Domain Containing 2 2 3 5
  • Syntaxin-Binding Protein 1-Like 1 3 4
  • STXBP1L1 3 4
  • Syntaxin Binding Protein 1-Like 1 3

External Ids for SCFD2 Gene

Previous GeneCards Identifiers for SCFD2 Gene

  • GC04M053655
  • GC04M053654
  • GC04M053580
  • GC04M053433
  • GC04M049683
  • GC04M053739

Summaries for SCFD2 Gene

GeneCards Summary for SCFD2 Gene

SCFD2 (Sec1 Family Domain Containing 2) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SCFD2 Gene

  • May be involved in protein transport.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCFD2 Gene

Genomics for SCFD2 Gene

Regulatory Elements for SCFD2 Gene

Enhancers for SCFD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SCFD2 on UCSC Golden Path with GeneCards custom track

Promoters for SCFD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SCFD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SCFD2 Gene

Chromosome:
4
Start:
52,872,982 bp from pter
End:
53,366,111 bp from pter
Size:
493,130 bases
Orientation:
Minus strand

Genomic View for SCFD2 Gene

Genes around SCFD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCFD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCFD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCFD2 Gene

Proteins for SCFD2 Gene

  • Protein details for SCFD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WU76-SCFD2_HUMAN
    Recommended name:
    Sec1 family domain-containing protein 2
    Protein Accession:
    Q8WU76
    Secondary Accessions:
    • Q8N5F3
    • Q8N8H0
    • Q96ED3

    Protein attributes for SCFD2 Gene

    Size:
    684 amino acids
    Molecular mass:
    75127 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SCFD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCFD2 Gene

Proteomics data for SCFD2 Gene at MOPED

Post-translational modifications for SCFD2 Gene

  • Ubiquitination at Lys 196, Lys 424, and Lys 664
  • Modification sites at PhosphoSitePlus

Other Protein References for SCFD2 Gene

No data available for DME Specific Peptides for SCFD2 Gene

Domains & Families for SCFD2 Gene

Protein Domains for SCFD2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SCFD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WU76

UniProtKB/Swiss-Prot:

SCFD2_HUMAN :
  • Belongs to the STXBP/unc-18/SEC1 family.
Family:
  • Belongs to the STXBP/unc-18/SEC1 family.
genes like me logo Genes that share domains with SCFD2: view

No data available for Gene Families for SCFD2 Gene

Function for SCFD2 Gene

Molecular function for SCFD2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in protein transport.
genes like me logo Genes that share phenotypes with SCFD2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SCFD2 Gene

Localization for SCFD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCFD2 Gene COMPARTMENTS Subcellular localization image for SCFD2 gene
Compartment Confidence
plasma membrane 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SCFD2 Gene

Pathways & Interactions for SCFD2 Gene

SuperPathways for SCFD2 Gene

No Data Available

Interacting Proteins for SCFD2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000384182%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000250495%0d%0a
Selected Interacting proteins: ENSP00000384182 for SCFD2 Gene via STRING

Gene Ontology (GO) - Biological Process for SCFD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006904 vesicle docking involved in exocytosis IEA --
GO:0008150 biological_process ND --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with SCFD2: view

No data available for Pathways by source and SIGNOR curated interactions for SCFD2 Gene

Drugs & Compounds for SCFD2 Gene

No Compound Related Data Available

Transcripts for SCFD2 Gene

Unigene Clusters for SCFD2 Gene

Sec1 family domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SCFD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -

Relevant External Links for SCFD2 Gene

GeneLoc Exon Structure for
SCFD2
ECgene alternative splicing isoforms for
SCFD2

Expression for SCFD2 Gene

mRNA expression in normal human tissues for SCFD2 Gene

Protein differential expression in normal tissues from HIPED for SCFD2 Gene

This gene is overexpressed in Bone (16.5) and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SCFD2 Gene



SOURCE GeneReport for Unigene cluster for SCFD2 Gene Hs.302287

genes like me logo Genes that share expression patterns with SCFD2: view

Protein tissue co-expression partners for SCFD2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SCFD2 Gene

Orthologs for SCFD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SCFD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SCFD2 35
  • 88.11 (n)
  • 88.45 (a)
SCFD2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCFD2 35
  • 87.36 (n)
  • 89.17 (a)
SCFD2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scfd2 35
  • 84.75 (n)
  • 83.48 (a)
Scfd2 16
Scfd2 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCFD2 35
  • 99.32 (n)
  • 98.83 (a)
SCFD2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scfd2 35
  • 84.5 (n)
  • 85.09 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SCFD2 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCFD2 35
  • 67.52 (n)
  • 65.62 (a)
SCFD2 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia scfd2 35
  • 62.45 (n)
  • 55.17 (a)
zebrafish
(Danio rerio)
Actinopterygii scfd2 35
  • 58.06 (n)
  • 52.71 (a)
scfd2 36
  • 56 (a)
OneToMany
SCFD2 (2 of 2) 36
  • 69 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G42700 35
  • 43.41 (n)
  • 30.22 (a)
rice
(Oryza sativa)
Liliopsida Os11g0169100 35
  • 41.86 (n)
  • 28.88 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
Species with no ortholog for SCFD2:
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCFD2 Gene

ENSEMBL:
Gene Tree for SCFD2 (if available)
TreeFam:
Gene Tree for SCFD2 (if available)

Paralogs for SCFD2 Gene

No data available for Paralogs for SCFD2 Gene

Variants for SCFD2 Gene

Sequence variations from dbSNP and Humsavar for SCFD2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs7675987 - 53,145,359(+) GTGAC(A/C/G)ATCCA reference, missense
rs169960 -- 52,972,080(+) aagac(C/T)atcga intron-variant
rs169961 -- 52,972,211(+) aaagg(C/T)acaga intron-variant
rs517914 -- 52,966,525(-) AAGGG(A/G)TGGTT intron-variant
rs365621 -- 52,962,673(-) CCCCC(A/C/T)CTAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCFD2 Gene

Variant ID Type Subtype PubMed ID
nsv525346 CNV Loss 19592680
esv2727603 CNV Deletion 23290073
nsv508280 CNV Loss 20534489
esv267413 CNV Insertion 20981092
esv272915 CNV Insertion 20981092
nsv292479 CNV Loss 16902084
esv2727604 CNV Deletion 23290073
esv271316 CNV Insertion 20981092
esv2727605 CNV Deletion 23290073
nsv471810 CNV Loss 16327809
esv1439510 CNV Insertion 17803354
esv2664238 CNV Deletion 23128226
esv24249 CNV Loss 19812545
esv2421791 CNV Deletion 20811451
nsv441876 CNV CNV 18776908
nsv514213 CNV Complex 21397061
nsv4339 CNV Insertion 18451855
nsv879013 CNV Loss 21882294
esv2727606 CNV Deletion 23290073
esv2019878 CNV Deletion 18987734
esv2670287 CNV Deletion 23128226
esv2727608 CNV Deletion 23290073
nsv507167 CNV Insertion 20534489

Variation tolerance for SCFD2 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.92; 89.81% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SCFD2 Gene

Disorders for SCFD2 Gene

Relevant External Links for SCFD2

Genetic Association Database (GAD)
SCFD2
Human Genome Epidemiology (HuGE) Navigator
SCFD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCFD2

No disorders were found for SCFD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SCFD2 Gene

Publications for SCFD2 Gene

  1. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. (PMID: 20395239) Macgregor S. … Mackey D.A. (Hum. Mol. Genet. 2010) 3 48 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 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. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Genome-wide association study of smoking behaviours in patients with COPD. (PMID: 21685187) Siedlinski M. … . (Thorax 2011) 3

Products for SCFD2 Gene

Sources for SCFD2 Gene

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