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SNX19 sorting nexin 19 [ Homo sapiens (human) ]

Gene ID: 399979, updated on 10-Oct-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
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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