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] See more...

Aliases for SNX19 Gene

Aliases for SNX19 Gene

  • Sorting Nexin 19 2 3 5
  • Sorting Nexin-19 3 4
  • KIAA0254 2 4
  • CHET8 2 3
  • SNX19 5

External Ids for SNX19 Gene

Previous GeneCards Identifiers for SNX19 Gene

  • GC11M132258
  • GC11M130779
  • GC11M130283
  • GC11M130285
  • GC11M130250
  • GC11M126700
  • GC11M130745
  • GC11M130879
  • GC11M130882
  • GC11M130891
  • GC11M130892
  • GC11M130890
  • GC11M130894
  • GC11M130883
  • GC11M130884
  • GC11M130885
  • GC11M130886
  • GC11M130887
  • GC11M130888
  • GC11M130889

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 Spinocerebellar Ataxia, Autosomal Recessive 20 and Johanson-Blizzard Syndrome. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding. An important paralog of this gene is SNX14.

UniProtKB/Swiss-Prot Summary 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNX19 Gene

Genomics for SNX19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SNX19 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNX19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNX19

Top Transcription factor binding sites by QIAGEN in the SNX19 gene promoter:
  • AREB6
  • Arnt
  • c-Ets-1
  • E47
  • Hand1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Nkx2-5

Genomic Locations for SNX19 Gene

Latest Assembly
chr11:130,866,250-130,916,488
(GRCh38/hg38)
Size:
50,239 bases
Orientation:
Minus strand

Previous Assembly
chr11:130,736,145-130,786,374
(GRCh37/hg19 by Entrez Gene)
Size:
50,230 bases
Orientation:
Minus strand

chr11:130,745,331-130,786,404
(GRCh37/hg19 by Ensembl)
Size:
41,074 bases
Orientation:
Minus strand

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=Extended N-terminus.; 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 Lys179
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for SNX19
  • Santa Cruz Biotechnology (SCBT) Antibodies for SNX19

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

InterPro:
Blocks:
  • Phox-like
  • Sorting nexin, C-terminal
  • PX-associated
ProtoNet:

Suggested Antigen Peptide Sequences for SNX19 Gene

GenScript: Design optimal peptide antigens:
  • SNX19 protein (Q8IV55_HUMAN)
  • Sorting nexin-19 (SNX19_HUMAN)

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX19

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
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

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

PathCards logo

SuperPathways for SNX19 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002062 chondrocyte differentiation IMP 19877062
GO:0006887 exocytosis IEA --
GO:0015031 protein transport IEA --
GO:0030073 insulin secretion IGI 24843546
GO:1990502 dense core granule maturation 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

mRNA/cDNA for SNX19 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX19

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

Expression for SNX19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SNX19 Gene



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

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 30 31
  • 99.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SNX19 30 31
  • 85.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Snx19 30
  • 83.5 (n)
Mouse
(Mus musculus)
Mammalia Snx19 30 17 31
  • 83.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SNX19 30 31
  • 83.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SNX19 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SNX19 31
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SNX19 30 31
  • 62.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SNX19 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia snx19 30
  • 63.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii snx19a 30 31
  • 58.27 (n)
OneToMany
snx19b 31
  • 46 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for SNX19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SNX19: view image

Paralogs for SNX19 Gene

Paralogs for SNX19 Gene

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

  • SNX19_HUMAN
  • E7ERC7_HUMAN
  • E9PJV7_HUMAN
  • E9PKB9_HUMAN
  • E9PLV3_HUMAN
  • F5H5D1_HUMAN
  • Q8IV55_HUMAN

Pseudogenes.org Pseudogenes for SNX19 Gene

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

Variants for SNX19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNX19 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs117260465 Benign: not provided 130,914,991(-) T/C
NM_014758.2(SNX19):c.949A>G (p.Ser317Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs142783173 Benign: not provided 130,880,697(-) G/A
NM_014758.2(SNX19):c.2683C>T (p.Arg895Trp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs144457394 Likely Benign: not provided 130,903,346(-) G/C
NM_014758.2(SNX19):c.2482C>G (p.Leu828Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1592391767 Likely Benign: not provided 130,915,901(-) T/G
NM_014758.2(SNX19):c.39A>C (p.Pro13=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs431825173 Not Provided: not provided 130,915,098(-) G/A
NM_014758.2(SNX19):c.842C>T (p.Ala281Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SNX19 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for SNX19 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SNX19 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SNX19 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search SNX19 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SNX19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  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
  3. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke MM … Psaty BM (Stroke 2009) 3 41
  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 23
  5. 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 41

Products for SNX19 Gene

Sources for SNX19 Gene