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Aliases for SNX30 Gene

Aliases for SNX30 Gene

  • Sorting Nexin Family Member 30 2 3 5
  • Sorting Nexin-30 3
  • ATG24A 3

External Ids for SNX30 Gene

Previous GeneCards Identifiers for SNX30 Gene

  • GC09P112594
  • GC09P114519
  • GC09P115513
  • GC09P085110

Summaries for SNX30 Gene

GeneCards Summary for SNX30 Gene

SNX30 (Sorting Nexin Family Member 30) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding. An important paralog of this gene is SNX7.

UniProtKB/Swiss-Prot for SNX30 Gene

  • May be involved in several stages of intracellular trafficking.

Additional gene information for SNX30 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 SNX30 Gene

Genomics for SNX30 Gene

GeneHancer (GH) Regulatory Elements for SNX30 Gene

Promoters and enhancers for SNX30 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
GH09I112749 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.2 1151 2.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000226609 SNX30 PRPF4 PTBP3 FKBP15 UGCG ENSG00000271631 PIR49803
GH09I112860 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 18.6 +112.9 112891 4.4 CEBPB MAX ZMYM3 GABPA POLR2A EGR1 GABPB1 PRDM1 RUNX3 MYC SLC46A2 SNX30 ENSG00000226609 SLC31A2 ENSG00000271631 FKBP15 PIR49803
GH09I112783 Enhancer 1 Ensembl ENCODE 18.9 +34.3 34278 2 NFIB ZBTB21 INSM2 NEUROD1 ZNF2 RFX5 ZNF324 CTBP1 GATA3 ZNF316 SNX30 ENSG00000226609 INIP SLC46A2 PIR49803
GH09I112844 Enhancer 1.2 Ensembl ENCODE dbSUPER 14.6 +95.3 95340 0.7 ARNT ARID4B ZBTB40 ZSCAN9 RAD21 RFX5 YY1 ETS1 CHAMP1 ZNF335 ENSG00000226609 SNX30 SLC46A2 PIR49803
GH09I113150 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.5 +403.8 403759 6.2 PKNOX1 ATF1 ZFP64 ARID4B SIN3A BRCA1 ZNF48 ETS1 ZNF121 GLIS2 SLC31A2 PIR43385 PRPF4 ZNF618 COL27A1 FKBP15 BSPRY LOC105376223 WDR31 SNX30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SNX30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNX30 gene promoter:

Genomic Locations for SNX30 Gene

Genomic Locations for SNX30 Gene
chr9:112,749,725-112,881,671
(GRCh38/hg38)
Size:
131,947 bases
Orientation:
Plus strand
chr9:115,513,118-115,643,951
(GRCh37/hg19)

Genomic View for SNX30 Gene

Genes around SNX30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX30 Gene

Proteins for SNX30 Gene

  • Protein details for SNX30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VWJ9-SNX30_HUMAN
    Recommended name:
    Sorting nexin-30
    Protein Accession:
    Q5VWJ9

    Protein attributes for SNX30 Gene

    Size:
    437 amino acids
    Molecular mass:
    49677 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SNX30 Gene

Post-translational modifications for SNX30 Gene

No Post-translational modifications

Other Protein References for SNX30 Gene

No data available for DME Specific Peptides for SNX30 Gene

Domains & Families for SNX30 Gene

Gene Families for SNX30 Gene

Protein Domains for SNX30 Gene

Suggested Antigen Peptide Sequences for SNX30 Gene

Graphical View of Domain Structure for InterPro Entry

Q5VWJ9

UniProtKB/Swiss-Prot:

SNX30_HUMAN :
  • Belongs to the sorting nexin family.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX30: view

Function for SNX30 Gene

Molecular function for SNX30 Gene

UniProtKB/Swiss-Prot Function:
May be involved in several stages of intracellular trafficking.

Phenotypes From GWAS Catalog for SNX30 Gene

Gene Ontology (GO) - Molecular Function for SNX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23085988
GO:0035091 phosphatidylinositol binding IBA --
genes like me logo Genes that share ontologies with SNX30: view
genes like me logo Genes that share phenotypes with SNX30: view

Animal Model Products

miRNA for SNX30 Gene

miRTarBase miRNAs that target SNX30

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNX30 Gene

Localization for SNX30 Gene

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 SNX30 gene
Compartment Confidence
cytosol 4
nucleus 3
endosome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IBA --
GO:0019898 extrinsic component of membrane IBA --
genes like me logo Genes that share ontologies with SNX30: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SNX30 Gene

Pathways & Interactions for SNX30 Gene

SuperPathways for SNX30 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006897 endocytosis IBA --
GO:0015031 protein transport IEA --
GO:0016050 vesicle organization IBA --
genes like me logo Genes that share ontologies with SNX30: view

No data available for Pathways by source and SIGNOR curated interactions for SNX30 Gene

Drugs & Compounds for SNX30 Gene

No Compound Related Data Available

Transcripts for SNX30 Gene

Unigene Clusters for SNX30 Gene

Sorting nexin family member 30:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNX30 Gene

No ASD Table

Relevant External Links for SNX30 Gene

GeneLoc Exon Structure for
SNX30
ECgene alternative splicing isoforms for
SNX30

Expression for SNX30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNX30 Gene

Protein differential expression in normal tissues from HIPED for SNX30 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.1), Saliva (6.9), Frontal cortex (6.7), and Fetal Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNX30 Gene



Protein tissue co-expression partners for SNX30 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNX30 Gene:

SNX30

SOURCE GeneReport for Unigene cluster for SNX30 Gene:

Hs.522350

Evidence on tissue expression from TISSUES for SNX30 Gene

  • Liver(4.2)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with SNX30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX30 Gene

Orthologs for SNX30 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SNX30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNX30 33 34
  • 98.63 (n)
dog
(Canis familiaris)
Mammalia SNX30 33 34
  • 92.03 (n)
cow
(Bos Taurus)
Mammalia SNX30 33 34
  • 91 (n)
rat
(Rattus norvegicus)
Mammalia Snx30 33
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Snx30 33 16 34
  • 90.31 (n)
oppossum
(Monodelphis domestica)
Mammalia SNX30 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNX30 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNX30 33 34
  • 77.73 (n)
lizard
(Anolis carolinensis)
Reptilia SNX30 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snx30 33
  • 73.78 (n)
zebrafish
(Danio rerio)
Actinopterygii snx30 33 34
  • 70.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR074W 33
  • 46.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNX4 33 34 36
  • 43.91 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10967g 33
  • 42.89 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03218 33
  • 43.13 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6F6.12 33
  • 42.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9288 34
  • 37 (a)
OneToMany
Species where no ortholog for SNX30 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SNX30 Gene

ENSEMBL:
Gene Tree for SNX30 (if available)
TreeFam:
Gene Tree for SNX30 (if available)

Paralogs for SNX30 Gene

Paralogs for SNX30 Gene

(4) SIMAP similar genes for SNX30 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SNX30: view

Variants for SNX30 Gene

Sequence variations from dbSNP and Humsavar for SNX30 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000042721 -- 112,830,548(+) G/T intron_variant
rs1000056041 -- 112,869,149(+) G/A 3_prime_UTR_variant, intron_variant
rs1000079018 -- 112,783,302(+) T/C intron_variant
rs1000095728 -- 112,789,602(+) A/G intron_variant
rs1000097448 -- 112,829,923(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SNX30 Gene

Variant ID Type Subtype PubMed ID
dgv262e55 CNV gain 17911159
dgv7701n100 CNV gain 25217958
dgv7702n100 CNV loss 25217958
esv1549334 CNV insertion 17803354
esv2422302 CNV deletion 17116639
esv2759710 CNV gain 17122850
esv2761275 CNV gain 21179565
esv3621517 CNV gain 21293372
esv3621521 CNV gain 21293372
esv995366 CNV loss 20482838
nsv1119567 CNV insertion 24896259
nsv1132982 CNV insertion 24896259
nsv1149867 CNV insertion 26484159
nsv442163 CNV gain 18776908
nsv471317 CNV gain 18288195
nsv515121 CNV gain 21397061
nsv515899 CNV gain+loss 19592680
nsv615198 CNV gain 21841781
nsv825049 CNV gain 20364138
nsv8559 CNV gain 18304495
nsv8560 CNV loss 18304495

Variation tolerance for SNX30 Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNX30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX30 Gene

Disorders for SNX30 Gene

Additional Disease Information for SNX30

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

No disorders were found for SNX30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SNX30 Gene

Publications for SNX30 Gene

  1. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A … Vieira AR (American journal of medical genetics. Part A 2010) 3 44 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58
  5. Comprehensive analysis of interactions between the Src-associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. (PMID: 22745667) Asbach B … Wagner R (PloS one 2012) 3 58

Products for SNX30 Gene

Sources for SNX30 Gene

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