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    SNX19 sorting nexin 19 [ Homo sapiens (human) ]

    Gene ID: 399979, updated on 2-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001301089.2NP_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:225325
      Nexin_C; Sorting nexin C terminal
      cl02563
      Location:139
      PX_domain; The Phox Homology domain, a phosphoinositide binding module
    2. NM_001347918.2NP_001334847.2  sorting nexin-19 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      A8K8U2
      Conserved Domains (4) summary
      smart00313
      Location:95272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270332
      PRK10263; DNA translocase FtsK; Provisional
      pfam08628
      Location:804905
      Nexin_C; Sorting nexin C terminal
      cl02563
      Location:532642
      PX_domain; The Phox Homology domain, a phosphoinositide binding module
    3. NM_001347919.2NP_001334848.2  sorting nexin-19 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      A8K8U2
      Conserved Domains (3) summary
      cd06893
      Location:532659
      PX_SNX19; The phosphoinositide binding Phox Homology domain of Sorting Nexin 19
      smart00313
      Location:95272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270332
      PRK10263; DNA translocase FtsK; Provisional
    4. NM_001347920.2NP_001334849.2  sorting nexin-19 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      A8K8U2
      Conserved Domains (3) summary
      cd06893
      Location:532659
      PX_SNX19; The phosphoinositide binding Phox Homology domain of Sorting Nexin 19
      smart00313
      Location:95272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270332
      PRK10263; DNA translocase FtsK; Provisional
    5. NM_001347921.2NP_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:532659
      PX_SNX19; The phosphoinositide binding Phox Homology domain of Sorting Nexin 19
      smart00313
      Location:95272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270332
      PRK10263; DNA translocase FtsK; Provisional
    6. NM_001347922.2NP_001334851.2  sorting nexin-19 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      B4E3P7
      Conserved Domains (2) summary
      pfam08628
      Location:287388
      Nexin_C; Sorting nexin C terminal
      cl02563
      Location:2102
      PX_domain; The Phox Homology domain, a phosphoinositide binding module
    7. NM_001347923.2NP_001334852.2  sorting nexin-19 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      B7ZAU9
      Conserved Domains (2) summary
      pfam08628
      Location:269370
      Nexin_C; Sorting nexin C terminal
      cl02563
      Location:2784
      PX_domain; The Phox Homology domain, a phosphoinositide binding module
    8. NM_001347924.2NP_001334853.1  sorting nexin-19 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      B7ZAU9
    9. NM_001347925.2NP_001334854.1  sorting nexin-19 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/TrEMBL
      B7ZAU9
    10. NM_001347926.2NP_001334855.1  sorting nexin-19 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AP000824, AP001093, AP003486
      UniProtKB/Swiss-Prot
      Q92543
    11. NM_001347927.2NP_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_014758.3NP_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:532659
      PX_SNX19; The phosphoinositide binding Phox Homology domain of Sorting Nexin 19
      smart00313
      Location:95272
      PXA; Domain associated with PX domains
      PRK10263
      Location:270332
      PRK10263; DNA translocase FtsK; Provisional
      pfam08628
      Location:844945
      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_047426940.1XP_047282896.1  sorting nexin-19 isoform X1

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

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

    4. XM_047426942.1XP_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_054368765.1XP_054224740.1  sorting nexin-19 isoform X5

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

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

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

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