Aliases for SFT2D2 Gene

Aliases for SFT2D2 Gene

  • SFT2 Domain Containing 2 2 3 5
  • SFT2 Domain-Containing Protein 2 3 4
  • Vesicle Transport Protein SFT2B 3 4
  • DJ747L4.C1.2 3
  • UNQ512 3

External Ids for SFT2D2 Gene

Previous GeneCards Identifiers for SFT2D2 Gene

  • GC01P164927
  • GC01P166462
  • GC01P166463
  • GC01P168195
  • GC01P139439

Summaries for SFT2D2 Gene

GeneCards Summary for SFT2D2 Gene

SFT2D2 (SFT2 Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is SFT2D1.

UniProtKB/Swiss-Prot Summary for SFT2D2 Gene

  • May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex.

Additional gene information for SFT2D2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFT2D2 Gene

Genomics for SFT2D2 Gene

GeneHancer (GH) Regulatory Elements for SFT2D2 Gene

Promoters and enhancers for SFT2D2 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
GH01J168225 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.2 1163 4.6 ZBTB40 EP300 NRF1 TCF12 POLR2G GTF2E2 PHF8 ZFX ZNF639 ZNF10 TBX19 NONHSAG003392.2 SFT2D2 lnc-GPR161-2 RNU6-1310P TIPRL piR-31871
GH01J168224 Enhancer 0.4 Ensembl 500.7 -1.8 -1837 0.2 CEBPG FOS CEBPB SP1 SFT2D2 lnc-GPR161-2 HSALNG0008275
GH01J168134 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 -89.7 -89737 3.6 EP300 ZSCAN5C PHF8 ZNF639 ZBTB10 ZBTB26 SAP30 EZH2 HDAC2 MXI1 GPR161 lnc-MPC2-1 TIPRL SFT2D2 MPC2
GH01J168202 Enhancer 0.9 Ensembl ENCODE 12.5 -22.6 -22624 1.6 EP300 TEAD1 ZKSCAN8 CEBPB MAFK ZGPAT BCL6 CEBPG MITF RXRA HSALNG0008270 TIPRL SFT2D2 MPC2 piR-56451-011
GH01J168300 Enhancer 0.9 Ensembl ENCODE 10.5 +75.9 75906 2.7 TCF12 EP300 ESRRA SMARCC2 BRCA1 FOS NR3C1 FOSL2 CEBPB CHD2 TBX19 MIR557 SFT2D2 RF01045-011
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFT2D2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFT2D2

Top Transcription factor binding sites by QIAGEN in the SFT2D2 gene promoter:
  • aMEF-2
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • MEF-2A
  • NF-Y
  • NF-YA
  • NF-YB
  • YY1

Genomic Locations for SFT2D2 Gene

Genomic Locations for SFT2D2 Gene
chr1:168,225,938-168,253,021
(GRCh38/hg38)
Size:
27,084 bases
Orientation:
Plus strand
chr1:168,195,176-168,222,263
(GRCh37/hg19)
Size:
27,088 bases
Orientation:
Plus strand

Genomic View for SFT2D2 Gene

Genes around SFT2D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFT2D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFT2D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFT2D2 Gene

Proteins for SFT2D2 Gene

  • Protein details for SFT2D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95562-SFT2B_HUMAN
    Recommended name:
    Vesicle transport protein SFT2B
    Protein Accession:
    O95562
    Secondary Accessions:
    • A8K2R0
    • Q6UWR8

    Protein attributes for SFT2D2 Gene

    Size:
    160 amino acids
    Molecular mass:
    17779 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ89038.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SFT2D2 Gene

Post-translational modifications for SFT2D2 Gene

  • Ubiquitination at Lys6
  • Modification sites at PhosphoSitePlus

Other Protein References for SFT2D2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SFT2D2 Gene

Domains & Families for SFT2D2 Gene

Gene Families for SFT2D2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SFT2D2 Gene

Suggested Antigen Peptide Sequences for SFT2D2 Gene

GenScript: Design optimal peptide antigens:
  • SFT2 domain-containing protein 2 (SFT2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95562

UniProtKB/Swiss-Prot:

SFT2B_HUMAN :
  • Belongs to the SFT2 family.
Family:
  • Belongs to the SFT2 family.
genes like me logo Genes that share domains with SFT2D2: view

Function for SFT2D2 Gene

Molecular function for SFT2D2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex.

Phenotypes From GWAS Catalog for SFT2D2 Gene

Gene Ontology (GO) - Molecular Function for SFT2D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with SFT2D2: view

Phenotypes for SFT2D2 Gene

genes like me logo Genes that share phenotypes with SFT2D2: view

Animal Model Products

CRISPR Products

miRNA for SFT2D2 Gene

miRTarBase miRNAs that target SFT2D2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFT2D2 Gene

Localization for SFT2D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFT2D2 Gene

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 SFT2D2 gene
Compartment Confidence
plasma membrane 3
nucleus 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SFT2D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SFT2D2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFT2D2 Gene

Pathways & Interactions for SFT2D2 Gene

PathCards logo

SuperPathways for SFT2D2 Gene

No Data Available

Interacting Proteins for SFT2D2 Gene

;

Gene Ontology (GO) - Biological Process for SFT2D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with SFT2D2: view

No data available for Pathways by source and SIGNOR curated interactions for SFT2D2 Gene

Drugs & Compounds for SFT2D2 Gene

No Compound Related Data Available

Transcripts for SFT2D2 Gene

mRNA/cDNA for SFT2D2 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SFT2D2 Gene

No ASD Table

Relevant External Links for SFT2D2 Gene

GeneLoc Exon Structure for
SFT2D2

Expression for SFT2D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFT2D2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SFT2D2 Gene

This gene is overexpressed in Nasal epithelium (46.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SFT2D2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFT2D2

SOURCE GeneReport for Unigene cluster for SFT2D2 Gene:

Hs.645435
genes like me logo Genes that share expression patterns with SFT2D2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SFT2D2 Gene

Orthologs for SFT2D2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SFT2D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFT2D2 31 30
  • 99.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SFT2D2 31 30
  • 90.42 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sft2d2 30
  • 88.11 (n)
dog
(Canis familiaris)
Mammalia SFT2D2 31 30
  • 87.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sft2d2 17 31 30
  • 86.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SFT2D2 31
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SFT2D2 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFT2D2 31 30
  • 74.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFT2D2 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sft2d2 30
  • 70.62 (n)
Str.6270 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7785 30
zebrafish
(Danio rerio)
Actinopterygii SFT2D2 (2 of 2) 31
  • 65 (a)
OneToMany
zgc:112392 30
  • 63.94 (n)
SFT2D2 (1 of 2) 31
  • 51 (a)
OneToMany
zgc64053 30
fruit fly
(Drosophila melanogaster)
Insecta CG5104 31
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F27D4.7 31
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G23550 30
  • 48.9 (n)
rice
(Oryza sativa)
Liliopsida Os02g0564500 30
  • 48.23 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToMany
Cin.278 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.278 30
Species where no ortholog for SFT2D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for SFT2D2 Gene

ENSEMBL:
Gene Tree for SFT2D2 (if available)
TreeFam:
Gene Tree for SFT2D2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFT2D2: view image

Paralogs for SFT2D2 Gene

Paralogs for SFT2D2 Gene

(1) SIMAP similar genes for SFT2D2 Gene using alignment to 2 proteins:

  • SFT2B_HUMAN
  • Q5TIH2_HUMAN
genes like me logo Genes that share paralogs with SFT2D2: view

Variants for SFT2D2 Gene

Additional dbSNP identifiers (rs#s) for SFT2D2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SFT2D2 Gene

Variant ID Type Subtype PubMed ID
nsv1002007 CNV gain 25217958
nsv1078878 OTHER inversion 25765185
nsv831825 CNV gain+loss 17160897

Variation tolerance for SFT2D2 Gene

Residual Variation Intolerance Score: 59.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFT2D2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFT2D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFT2D2 Gene

Disorders for SFT2D2 Gene

Additional Disease Information for SFT2D2

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

No disorders were found for SFT2D2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SFT2D2 Gene

Publications for SFT2D2 Gene

  1. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41 54
  2. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 41 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for SFT2D2 Gene

Sources for SFT2D2 Gene