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SNX19 sorting nexin 19 [ Homo sapiens (human) ]

Gene ID: 399979, updated on 7-Jul-2019

Summary

Official Symbol
SNX19provided by HGNC
Official Full Name
sorting nexin 19provided by HGNC
Primary source
HGNC:HGNC:21532
See related
Ensembl:ENSG00000120451
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

Genomic context

See SNX19 in Genome Data Viewer
Location:
11q24.3-q25
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (130866260..130916488, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (130745766..130786382, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 10 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2551 Neighboring gene uncharacterized LOC103611081 Neighboring gene uncharacterized LOC105369577 Neighboring gene RNA, 7SL, cytoplasmic 167, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0254, DKFZp667I205

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
dense core granule maturation IGI
Inferred from Genetic Interaction
more info
PubMed 
exocytosis IEA
Inferred from Electronic Annotation
more info
 
insulin secretion IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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_053190.1 RefSeqGene

    Range
    5002..45618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301089.1NP_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)
    AK316414, AP000824, BU623384, DC400642
    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_001347918.1NP_001334847.1  sorting nexin-19 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    UniProtKB/Swiss-Prot
    Q92543
  3. NM_001347919.1NP_001334848.1  sorting nexin-19 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    UniProtKB/Swiss-Prot
    Q92543
  4. NM_001347920.1NP_001334849.1  sorting nexin-19 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    UniProtKB/Swiss-Prot
    Q92543
  5. NM_001347921.1NP_001334850.1  sorting nexin-19 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    Consensus CDS
    CCDS86261.1
    UniProtKB/Swiss-Prot
    Q92543
    Related
    ENSP00000435390.1, ENST00000533214.1
  6. NM_001347922.1NP_001334851.1  sorting nexin-19 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    UniProtKB/Swiss-Prot
    Q92543
  7. NM_001347923.1NP_001334852.1  sorting nexin-19 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    UniProtKB/Swiss-Prot
    Q92543
  8. NM_001347924.1NP_001334853.1  sorting nexin-19 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    UniProtKB/Swiss-Prot
    Q92543
  9. NM_001347925.1NP_001334854.1  sorting nexin-19 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    UniProtKB/Swiss-Prot
    Q92543
  10. NM_001347926.1NP_001334855.1  sorting nexin-19 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    UniProtKB/Swiss-Prot
    Q92543
  11. NM_001347927.1NP_001334856.1  sorting nexin-19 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093
    Consensus CDS
    CCDS86260.1
    UniProtKB/Swiss-Prot
    Q92543
    UniProtKB/TrEMBL
    E9PJV7
    Related
    ENSP00000433699.1, ENST00000534726.5
  12. NM_014758.2NP_055573.2  sorting nexin-19 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF395843, AP000824, BU431333, BU623384, CB999595, CN307729, DB098024, DN990954
    Consensus CDS
    CCDS31721.1
    UniProtKB/Swiss-Prot
    Q92543
    Related
    ENSP00000265909.4, ENST00000265909.8
    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
    pfam08628
    Location:845945
    Nexin_C; Sorting nexin C terminal

RNA

  1. NR_144939.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF395843, AP000824, AP001093

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    130866260..130916488 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542821.3XP_011541123.1  sorting nexin-19 isoform X3

    Conserved Domains (3) summary
    smart00313
    Location:95272
    PXA; Domain associated with PX domains
    pfam08628
    Location:900987
    Nexin_C; Sorting nexin C terminal
    cl02563
    Location:532642
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  2. XM_011542820.2XP_011541122.1  sorting nexin-19 isoform X2

    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
    pfam08628
    Location:9311023
    Nexin_C; Sorting nexin C terminal
  3. XM_024448521.1XP_024304289.1  sorting nexin-19 isoform X1

    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
    pfam08628
    Location:9311027
    Nexin_C; Sorting nexin C terminal
    cl28087
    Location:270332
    FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
  4. XM_011542825.2XP_011541127.1  sorting nexin-19 isoform X5

    Conserved Domains (2) summary
    pfam08628
    Location:365452
    Nexin_C; Sorting nexin C terminal
    cl02563
    Location:2784
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  5. XM_011542826.2XP_011541128.1  sorting nexin-19 isoform X6

    Conserved Domains (2) summary
    pfam08628
    Location:320407
    Nexin_C; Sorting nexin C terminal
    cl02563
    Location:139
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  6. XM_011542824.2XP_011541126.1  sorting nexin-19 isoform X4

    Conserved Domains (3) summary
    smart00313
    Location:95264
    PXA; Domain associated with PX domains
    pfam08628
    Location:646733
    Nexin_C; Sorting nexin C terminal
    cl02563
    Location:263365
    PX_domain; The Phox Homology domain, a phosphoinositide binding module

RNA

  1. XR_001747873.1 RNA Sequence

  2. XR_001747872.1 RNA Sequence

  3. XR_001747870.1 RNA Sequence

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