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Aliases for SNX19 Gene

Aliases for SNX19 Gene

  • Sorting Nexin 19 2 3 5
  • Sorting Nexin-19 3
  • KIAA0254 4
  • CHET8 3

External Ids for SNX19 Gene

Previous GeneCards Identifiers for SNX19 Gene

  • GC11M132258
  • GC11M130779
  • GC11M130283
  • GC11M130285
  • GC11M130250
  • GC11M126700
  • GC11M130745
  • GC11M130879
  • GC11M130882
  • GC11M130883
  • GC11M130884
  • GC11M130885
  • GC11M130886

Summaries for SNX19 Gene

Entrez Gene Summary for SNX19 Gene

  • Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]

GeneCards Summary for SNX19 Gene

SNX19 (Sorting Nexin 19) is a Protein Coding gene. Diseases associated with SNX19 include Retinitis Pigmentosa 42. GO annotations related to this gene include phosphatidylinositol binding.

UniProtKB/Swiss-Prot for SNX19 Gene

  • Plays a role in intracellular vesicle trafficking and exocytosis (PubMed:24843546). May play a role in maintaining insulin-containing dense core vesicles in pancreatic beta-cells and in preventing their degradation. May play a role in insulin secretion (PubMed:24843546). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (By similarity).

Additional gene information for SNX19 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNX19 Gene

Genomics for SNX19 Gene

Regulatory Elements for SNX19 Gene

Enhancers for SNX19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H130896 1.5 FANTOM5 Ensembl ENCODE dbSUPER 72.1 +18.7 18721 3.2 FOXA2 JUN MAX REST FOXA1 NR2F2 GABPA YY1 JUND ATF3 SNX19 ADAMTS8 LOC103611081 LINC02551 ADAMTS15 GC11P130904 GC11M130881
GH11H130861 1.4 Ensembl ENCODE dbSUPER 65.3 +54.4 54439 1.4 ELF3 TBL1XR1 RB1 ARID4B KLF17 ZNF2 ZSCAN9 BRCA1 RAD21 ZNF143 SNX19 LINC02551 GC11P130847
GH11H130894 1.1 ENCODE dbSUPER 83 +21.8 21821 0.8 CTCF LEF1 FOXA2 TAL1 MAX FEZF1 ZIC2 ZNF2 RAD21 TEAD3 SNX19 LOC103611081 ADAMTS8 LINC02551 ADAMTS15 GC11M130881 GC11P130904
GH11H130846 1.2 Ensembl ENCODE dbSUPER 69.6 +68.7 68663 3.3 PKNOX1 JUN MAX MNT EP300 RFX5 FOSL1 JUND POLR2A STAT3 SNX19 ADAMTS8 ADAMTS15 GC11P130847 LINC02551
GH11H130915 1 ENCODE 73.6 +0.4 361 2 ATF1 SIN3A ZNF2 YY1 ETS1 ZNF766 CBX5 ELK1 ZNF207 ZNF143 SNX19 ZBTB44 PRDM10 GC11M130915
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNX19 on UCSC Golden Path with GeneCards custom track

Promoters for SNX19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000047202 109 1201 ATF1 SIN3A ZNF2 ETS1 ZNF766 CBX5 ELK1 ZNF207 ZNF143 ATF7

Genomic Locations for SNX19 Gene

Genomic Locations for SNX19 Gene
chr11:130,875,436-130,916,509
(GRCh38/hg38)
Size:
41,074 bases
Orientation:
Minus strand
chr11:130,745,331-130,786,404
(GRCh37/hg19)

Genomic View for SNX19 Gene

Genes around SNX19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX19 Gene

Proteins for SNX19 Gene

  • Protein details for SNX19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92543-SNX19_HUMAN
    Recommended name:
    Sorting nexin-19
    Protein Accession:
    Q92543
    Secondary Accessions:
    • E9PKB9
    • Q8IV55

    Protein attributes for SNX19 Gene

    Size:
    992 amino acids
    Molecular mass:
    108598 Da
    Quaternary structure:
    • Interacts with PTPRN.
    SequenceCaution:
    • Sequence=BAA13384.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SNX19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX19 Gene

Post-translational modifications for SNX19 Gene

  • Ubiquitination at isoforms=2179
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNX19 Gene

Domains & Families for SNX19 Gene

Gene Families for SNX19 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SNX19 Gene

Suggested Antigen Peptide Sequences for SNX19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92543

UniProtKB/Swiss-Prot:

SNX19_HUMAN :
  • The PX domain mediates specific binding to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)).
  • Belongs to the sorting nexin family.
Domain:
  • The PX domain mediates specific binding to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)).
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX19: view

Function for SNX19 Gene

Molecular function for SNX19 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in intracellular vesicle trafficking and exocytosis (PubMed:24843546). May play a role in maintaining insulin-containing dense core vesicles in pancreatic beta-cells and in preventing their degradation. May play a role in insulin secretion (PubMed:24843546). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (By similarity).

Phenotypes From GWAS Catalog for SNX19 Gene

Gene Ontology (GO) - Molecular Function for SNX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16273344
GO:0008289 lipid binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding IEA --
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with SNX19: view
genes like me logo Genes that share phenotypes with SNX19: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNX19 Gene

Localization for SNX19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX19 Gene

Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side.

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 SNX19 gene
Compartment Confidence
plasma membrane 3
endosome 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SNX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19877062
GO:0005768 endosome IEA --
GO:0016020 membrane IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with SNX19: view

Pathways & Interactions for SNX19 Gene

SuperPathways for SNX19 Gene

No Data Available

Interacting Proteins for SNX19 Gene

Gene Ontology (GO) - Biological Process for SNX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002062 chondrocyte differentiation IMP 19877062
GO:0006810 transport IEA --
GO:0006887 exocytosis IEA --
GO:0015031 protein transport IEA --
GO:0030073 insulin secretion IGI 24843546
genes like me logo Genes that share ontologies with SNX19: view

No data available for Pathways by source and SIGNOR curated interactions for SNX19 Gene

Drugs & Compounds for SNX19 Gene

No Compound Related Data Available

Transcripts for SNX19 Gene

Unigene Clusters for SNX19 Gene

Sorting nexin 19:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNX19 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b
SP1: - - - - -
SP2: - -
SP3: - - - - -
SP4: - -
SP5: -
SP6:
SP7: -
SP8:

Relevant External Links for SNX19 Gene

GeneLoc Exon Structure for
SNX19
ECgene alternative splicing isoforms for
SNX19

Expression for SNX19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNX19 Gene

Protein differential expression in normal tissues from HIPED for SNX19 Gene

This gene is overexpressed in Urinary Bladder (48.6), Oral epithelium (8.4), and Salivary gland (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNX19 Gene



NURSA nuclear receptor signaling pathways regulating expression of SNX19 Gene:

SNX19

SOURCE GeneReport for Unigene cluster for SNX19 Gene:

Hs.444024

Evidence on tissue expression from TISSUES for SNX19 Gene

  • Nervous system(4.8)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with SNX19: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX19 Gene

Orthologs for SNX19 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SNX19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNX19 33 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia SNX19 33 34
  • 85.07 (n)
rat
(Rattus norvegicus)
Mammalia Snx19 33
  • 83.5 (n)
mouse
(Mus musculus)
Mammalia Snx19 33 16 34
  • 83.27 (n)
cow
(Bos Taurus)
Mammalia SNX19 33 34
  • 83.08 (n)
oppossum
(Monodelphis domestica)
Mammalia SNX19 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNX19 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNX19 33 34
  • 62.99 (n)
lizard
(Anolis carolinensis)
Reptilia SNX19 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snx19 33
  • 63.62 (n)
zebrafish
(Danio rerio)
Actinopterygii snx19a 33 34
  • 58.27 (n)
snx19b 34
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToOne
Species where no ortholog for SNX19 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)
  • 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 (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 SNX19 Gene

ENSEMBL:
Gene Tree for SNX19 (if available)
TreeFam:
Gene Tree for SNX19 (if available)

Paralogs for SNX19 Gene

(1) SIMAP similar genes for SNX19 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for SNX19 Gene

genes like me logo Genes that share paralogs with SNX19: view

No data available for Paralogs for SNX19 Gene

Variants for SNX19 Gene

Sequence variations from dbSNP and Humsavar for SNX19 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs431825173 untested 130,915,098(-) CAGTG(C/G/T)CCCCG intron-variant, nc-transcript-variant, reference, missense
rs1000128147 -- 130,892,333(+) AAAAG(C/T)TGAAC intron-variant
rs1000165439 -- 130,873,491(+) AGGCA(A/G)ATTGA nc-transcript-variant, utr-variant-3-prime
rs1000188439 -- 130,868,052(+) AAATG(C/G)CTTCT nc-transcript-variant, utr-variant-3-prime
rs1000201090 -- 130,901,725(+) CGTTA(C/T)CTAGA intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SNX19 Gene

Variant ID Type Subtype PubMed ID
nsv976001 CNV duplication 23825009
nsv976000 CNV duplication 23825009
nsv556575 CNV gain 21841781
nsv556574 CNV gain 21841781
nsv556572 CNV gain 21841781
nsv552 CNV deletion 18451855
nsv1035733 CNV gain 25217958
esv3334474 CNV insertion 20981092
esv3309519 CNV mobile element insertion 20981092
dgv1296n100 CNV gain 25217958

Variation tolerance for SNX19 Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.57; 94.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNX19 Gene

Human Gene Mutation Database (HGMD)
SNX19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX19 Gene

Disorders for SNX19 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SNX19 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 42
  • rp42
- elite association - COSMIC cancer census association via MalaCards
Search SNX19 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SNX19

Genetic Association Database (GAD)
SNX19
Human Genome Epidemiology (HuGE) Navigator
SNX19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNX19
genes like me logo Genes that share disorders with SNX19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNX19 Gene

Publications for SNX19 Gene

  1. The IA-2 interactome. (PMID: 16273344) Hu YF … Notkins AL (Diabetologia 2005) 3 4 22 60
  2. Sorting nexin 19 regulates the number of dense core vesicles in pancreatic β-cells. (PMID: 24843546) Harashima S … Inagaki N (Journal of diabetes investigation 2012) 3 4 60
  3. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PMID: 19730683) Landa I … Robledo M (PLoS genetics 2009) 3 45 60
  4. Screening of chondrogenic factors with a real-time fluorescence-monitoring cell line ATDC5-C2ER: identification of sorting nexin 19 as a novel factor. (PMID: 19877062) Kan A … Kawaguchi H (Arthritis and rheumatism 2009) 3 22 60
  5. Polymorphisms associated with both noncardioembolic stroke and coronary heart disease: vienna stroke registry. (PMID: 19752551) Luke MM … Mannhalter C (Cerebrovascular diseases (Basel, Switzerland) 2009) 3 45 60

Products for SNX19 Gene

Sources for SNX19 Gene

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