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    SNX19 sorting nexin 19 [ Homo sapiens (human) ]

    Gene ID: 399979, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SNX19provided by HGNC
    Official Full Name
    sorting nexin 19provided by HGNC
    Primary source
    HGNC:HGNC:21532
    See related
    Ensembl:ENSG00000120451 AllianceGenome:HGNC:21532
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHET8
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 9.7), thyroid (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNX19 in Genome Data Viewer
    Location:
    11q24.3-q25
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (130866250..130916479, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (130901996..130952245, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (130736145..130786374, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 10 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:130674453-130674952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:130695964-130696543 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:130696544-130697122 Neighboring gene long intergenic non-protein coding RNA 2551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:130731366-130731866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:130731867-130732367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:130735401-130735900 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:130741218-130742417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4082 Neighboring gene uncharacterized LOC105369577 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:130868662-130869861 Neighboring gene RNA, 7SL, cytoplasmic 167, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SNX19 restricts endolysosome motility through contacts with the endoplasmic reticulum. Saric A, et al. Nat Commun, 2021 Jul 27. PMID 34315878, Free PMC Article
    2. Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19). Ma L, et al. Mol Psychiatry, 2020 Apr. PMID 30635639
    3. Single molecule in situ hybridization reveals distinct localizations of schizophrenia risk-related transcripts SNX19 and AS3MT in human brain. Takahashi Y, et al. Mol Psychiatry, 2021 Jul. PMID 33649454
    4. Use of chromatin immunoprecipitation to clone novel E2F target promoters. Weinmann AS, et al. Mol Cell Biol, 2001 Oct. PMID 11564866, Free PMC Article
    5. Screening of chondrogenic factors with a real-time fluorescence-monitoring cell line ATDC5-C2ER: identification of sorting nexin 19 as a novel factor. Kan A, et al. Arthritis Rheum, 2009 Nov. PMID 19877062

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Single molecule in situ hybridization reveals distinct localizations of schizophrenia risk-related transcripts SNX19 and AS3MT in human brain.
      Title: Single molecule in situ hybridization reveals distinct localizations of schizophrenia risk-related transcripts SNX19 and AS3MT in human brain.
    2. SNX19 restricts endolysosome motility through contacts with the endoplasmic reticulum.
      Title: SNX19 restricts endolysosome motility through contacts with the endoplasmic reticulum.
    3. Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19).
      Title: Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19).
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Polymorphisms associated with both noncardioembolic stroke and coronary heart disease: vienna stroke registry.
    5. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Five common gene variants identify elevated genetic risk for coronary heart disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21600, FLJ42432, KIAA0254, DKFZp667I205, DKFZp667E0114

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dense core granule maturation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in insulin secretion IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    sorting nexin-19

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053190.2 RefSeqGene

      Range
      5000..55229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301089.2 → NP_001288018.1  sorting nexin-19 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of the first exon and starts translation at a downstream AUG compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AP000824, AP001093, AP003486
      Consensus CDS
      CCDS73416.1
      UniProtKB/TrEMBL
      B7ZAU9, E9PLV3
      Related
      ENSP00000435122.1, ENST00000528555.5
      Conserved Domains (2) summary
      pfam08628
      Location:225 → 325
      Nexin_C; Sorting nexin C terminal
      cl02563
      Location:1 → 39
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    2. NM_001347918.2 → NP_001334847.2  sorting nexin-19 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      A8K8U2
      Conserved Domains (4) summary
      smart00313
      Location:95 → 272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270 → 332
      PRK10263; DNA translocase FtsK; Provisional
      pfam08628
      Location:804 → 905
      Nexin_C; Sorting nexin C terminal
      cl02563
      Location:532 → 642
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    3. NM_001347919.2 → NP_001334848.2  sorting nexin-19 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      A8K8U2
      Conserved Domains (3) summary
      cd06893
      Location:532 → 659
      PX_SNX19; The phosphoinositide binding Phox Homology domain of Sorting Nexin 19
      smart00313
      Location:95 → 272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270 → 332
      PRK10263; DNA translocase FtsK; Provisional

    4. NM_001347920.2 → NP_001334849.2  sorting nexin-19 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      A8K8U2
      Conserved Domains (3) summary
      cd06893
      Location:532 → 659
      PX_SNX19; The phosphoinositide binding Phox Homology domain of Sorting Nexin 19
      smart00313
      Location:95 → 272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270 → 332
      PRK10263; DNA translocase FtsK; Provisional

    5. NM_001347921.2 → NP_001334850.2  sorting nexin-19 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093
      Consensus CDS
      CCDS86261.1
      UniProtKB/TrEMBL
      A8K8U2
      Related
      ENSP00000435390.1, ENST00000533214.1
      Conserved Domains (3) summary
      cd06893
      Location:532 → 659
      PX_SNX19; The phosphoinositide binding Phox Homology domain of Sorting Nexin 19
      smart00313
      Location:95 → 272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270 → 332
      PRK10263; DNA translocase FtsK; Provisional

    6. NM_001347922.2 → NP_001334851.2  sorting nexin-19 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      B4E3P7
      Conserved Domains (2) summary
      pfam08628
      Location:287 → 388
      Nexin_C; Sorting nexin C terminal
      cl02563
      Location:2 → 102
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    7. NM_001347923.2 → NP_001334852.2  sorting nexin-19 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      B7ZAU9
      Conserved Domains (2) summary
      pfam08628
      Location:269 → 370
      Nexin_C; Sorting nexin C terminal
      cl02563
      Location:27 → 84
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    8. NM_001347924.2 → NP_001334853.1  sorting nexin-19 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      B7ZAU9

    9. NM_001347925.2 → NP_001334854.1  sorting nexin-19 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      B7ZAU9

    10. NM_001347926.2 → NP_001334855.1  sorting nexin-19 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/Swiss-Prot
      Q92543

    11. NM_001347927.2 → NP_001334856.1  sorting nexin-19 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      Consensus CDS
      CCDS86260.1
      UniProtKB/TrEMBL
      B4DGR7, E9PJV7
      Related
      ENSP00000433699.1, ENST00000534726.5

    12. NM_014758.3 → NP_055573.3  sorting nexin-19 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP000824, AP001093, AP003486
      Consensus CDS
      CCDS31721.1
      UniProtKB/Swiss-Prot
      E9PKB9, Q8IV55, Q92543
      UniProtKB/TrEMBL
      A8K8U2
      Related
      ENSP00000265909.4, ENST00000265909.9
      Conserved Domains (4) summary
      cd06893
      Location:532 → 659
      PX_SNX19; The phosphoinositide binding Phox Homology domain of Sorting Nexin 19
      smart00313
      Location:95 → 272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270 → 332
      PRK10263; DNA translocase FtsK; Provisional
      pfam08628
      Location:844 → 945
      Nexin_C; Sorting nexin C terminal

    RNA

    1. NR_144939.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      130866250..130916479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426940.1 → XP_047282896.1  sorting nexin-19 isoform X1

    2. XM_047426943.1 → XP_047282899.1  sorting nexin-19 isoform X3

    3. XM_047426941.1 → XP_047282897.1  sorting nexin-19 isoform X2

    4. XM_047426942.1 → XP_047282898.1  sorting nexin-19 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      130901996..130952245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368765.1 → XP_054224740.1  sorting nexin-19 isoform X5

    2. XM_054368766.1 → XP_054224741.1  sorting nexin-19 isoform X1

    3. XM_054368769.1 → XP_054224744.1  sorting nexin-19 isoform X3

    4. XM_054368767.1 → XP_054224742.1  sorting nexin-19 isoform X2

    5. XM_054368768.1 → XP_054224743.1  sorting nexin-19 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92543.2 GenPept UniProtKB/Swiss-Prot:Q92543

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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