Aliases for SNX30 Gene

Aliases for SNX30 Gene

  • Sorting Nexin Family Member 30 2 3 5
  • Sorting Nexin-30 3 4
  • 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 Summary for SNX30 Gene

Additional gene information for SNX30 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH09J112860 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.2 +113.2 113238 3.5 TCF12 GABPA SPI1 EGR1 KDM1A POLR2A CEBPB MTA3 GABPB1 BCL3 SLC46A2 SNX30 SLC31A2 ENSG00000226609 ENSG00000271631 FKBP15 HSALNG0073791 HG984071
GH09J112485 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas 9.7 -260.2 -260221 8.2 FOXK2 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 TCF12 MYC POLR2G SP1 C9orf147 KIAA1958 HSDL2 INIP ENSG00000226609 SNX30
GH09J112783 Enhancer 0.9 Ensembl ENCODE 18.9 +34.3 34279 2 ZNF217 TEAD4 TRIM28 TOE1 ATF2 CTBP1 HDAC3 NEUROD1 ZNF316 ZBTB17 SNX30 ENSG00000226609 INIP SLC46A2 piR-52680-369 RF00017-7833
GH09J112749 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.1 +3.8 3788 8 HNRNPK ZNF217 TCF12 NRF1 POLR2G USF1 PHF8 JUND FOS ZFX INIP SLC46A2 SNX30 ENSG00000226609 ENSG00000271631 piR-57134-114
GH09J112838 Enhancer 1.1 Ensembl ENCODE dbSUPER 15.1 +90.4 90376 3.8 TCF7 SKI TEAD1 SIN3A FOXA2 SAP130 SPI1 GATA3 FOXP1 SMAD4 ENSG00000226609 SNX30 SLC46A2 INIP HG984071 RF00017-7834
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNX30 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNX30

Top Transcription factor binding sites by QIAGEN in the SNX30 gene promoter:
  • aMEF-2
  • c-Myc
  • FOXO3
  • FOXO3a
  • Max1
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • YY1

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)
Size:
130,834 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Blocks:
  • Phox-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNX30 Gene

GenScript: Design optimal peptide antigens:
  • Sorting nexin family member 30 (B1ALK2_HUMAN)
  • Sorting nexin-30 (SNX30_HUMAN)

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 IEA --
genes like me logo Genes that share ontologies with SNX30: view
genes like me logo Genes that share phenotypes with SNX30: view

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
nucleus 3
cytosol 3

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SNX30 Gene

Pathways & Interactions for SNX30 Gene

PathCards logo

SuperPathways for SNX30 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
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

mRNA/cDNA for SNX30 Gene

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

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

Expression for SNX30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SNX30 Gene



Protein tissue co-expression partners for SNX30 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 98.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SNX30 31 30
  • 92.03 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SNX30 31 30
  • 91 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snx30 30
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Snx30 17 31 30
  • 90.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SNX30 31
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNX30 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNX30 31 30
  • 77.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNX30 31
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snx30 30
  • 73.78 (n)
zebrafish
(Danio rerio)
Actinopterygii snx30 31 30
  • 70.76 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR074W 30
  • 46.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNX4 33 31 30
  • 43.91 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10967g 30
  • 42.89 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03218 30
  • 43.13 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6F6.12 30
  • 42.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9288 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SNX30: view image

Paralogs for SNX30 Gene

Paralogs for SNX30 Gene

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

  • SNX30_HUMAN
  • H0Y496_HUMAN
genes like me logo Genes that share paralogs with SNX30: view

Variants for SNX30 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNX30 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs10117709 - p.Pro125Ala
rs2796036 - p.Asp83His

Additional dbSNP identifiers (rs#s) for SNX30 Gene

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

SNP Genotyping and Copy Number Assay Products

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 41 54
  2. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  3. 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
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54

Products for SNX30 Gene

Sources for SNX30 Gene