SNX19

gene
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Also known as KIAA0254CHET8

Summary

SNX19 (sorting nexin 19, HGNC:21532) is a protein-coding gene on chromosome 11q24.3-q25, encoding Sorting nexin-19 (Q92543). Plays a role in intracellular vesicle trafficking and exocytosis.

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.

Source: NCBI Gene 399979 — RefSeq curated summary.

At a glance

  • GWAS associations: 20
  • Clinical variants (ClinVar): 184 total — 2 pathogenic
  • MANE Select transcript: NM_014758

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21532
Approved symbolSNX19
Namesorting nexin 19
Location11q24.3-q25
Locus typegene with protein product
StatusApproved
AliasesKIAA0254, CHET8
Ensembl geneENSG00000120451
Ensembl biotypeprotein_coding
Entrez399979

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000265909, ENST00000426933, ENST00000524460, ENST00000526579, ENST00000527116, ENST00000527451, ENST00000528555, ENST00000530330, ENST00000530356, ENST00000531608, ENST00000533214, ENST00000533318, ENST00000534726

RefSeq mRNA: 12 — MANE Select: NM_014758 NM_001301089, NM_001347918, NM_001347919, NM_001347920, NM_001347921, NM_001347922, NM_001347923, NM_001347924, NM_001347925, NM_001347926, NM_001347927, NM_014758

CCDS: CCDS31721, CCDS73416, CCDS86260, CCDS86261

Canonical transcript exons

ENST00000265909 — 11 exons

ExonStartEnd
ENSE00001100145130866250130878554
ENSE00002197008130914266130916479
ENSE00003477865130905953130906133
ENSE00003515515130906625130906721
ENSE00003521354130911633130911771
ENSE00003568410130880622130880806
ENSE00003591737130910270130910370
ENSE00003605645130907953130908083
ENSE00003621693130903255130903384
ENSE00003638003130879624130879711
ENSE00003690319130910018130910137

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 95.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.1554 / max 190.8769, expressed in 1807 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
12317926.31571807
1231780.8995629
1231800.8841547
1231770.056015

Top tissues by expression

300 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
stromal cell of endometriumCL:000225595.97gold quality
islet of LangerhansUBERON:000000694.09gold quality
right coronary arteryUBERON:000162593.33gold quality
adrenal tissueUBERON:001830393.08gold quality
medial globus pallidusUBERON:000247792.85gold quality
gall bladderUBERON:000211092.81gold quality
hindlimb stylopod muscleUBERON:000425292.14gold quality
globus pallidusUBERON:000187592.03gold quality
corpus callosumUBERON:000233691.86gold quality
popliteal arteryUBERON:000225091.60gold quality
tibial arteryUBERON:000761091.58gold quality
right adrenal gland cortexUBERON:003582791.46gold quality
lower esophagus muscularis layerUBERON:003583391.45gold quality
rectumUBERON:000105291.43gold quality
lower esophagusUBERON:001347391.43gold quality
smooth muscle tissueUBERON:000113591.36gold quality
pancreasUBERON:000126491.31gold quality
C1 segment of cervical spinal cordUBERON:000646991.28gold quality
ganglionic eminenceUBERON:000402391.26gold quality
spermCL:000001991.19gold quality
muscle layer of sigmoid colonUBERON:003580591.17gold quality
aortaUBERON:000094791.06gold quality
left uterine tubeUBERON:000130391.03gold quality
epithelium of nasopharynxUBERON:000195191.02gold quality
nasopharynxUBERON:000172891.01gold quality
body of pancreasUBERON:000115091.00gold quality
tonsilUBERON:000237290.99gold quality
right testisUBERON:000453490.97gold quality
stomachUBERON:000094590.94gold quality
body of stomachUBERON:000116190.94gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

147 targeting SNX19, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4425100.0067.591049
HSA-MIR-3646100.0073.565283
HSA-MIR-4455100.0065.481587
HSA-MIR-3163100.0077.238605
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-366299.9973.825684
HSA-MIR-428299.9975.366408
HSA-MIR-548AW99.9972.573559
HSA-MIR-1213699.9872.815713
HSA-MIR-548N99.9871.944170
HSA-MIR-60799.9773.625593
HSA-MIR-548AB99.9571.313488
HSA-MIR-651-3P99.9473.485177
HSA-MIR-548I99.9471.253481
HSA-MIR-367199.9073.043897
HSA-MIR-627-3P99.9071.423316
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-449299.8768.253611
HSA-MIR-797899.8666.90856
HSA-MIR-369-3P99.8570.522264
HSA-MIR-576-5P99.8470.462582
HSA-MIR-6875-3P99.8270.262983
HSA-MIR-489-3P99.8066.46839
HSA-MIR-6739-5P99.8067.872806
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-548AJ-5P99.7871.123085
HSA-MIR-548F-5P99.7871.023093

Literature-anchored findings (GeneRIF, showing 3)

  • Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19). (PMID:30635639)
  • Single molecule in situ hybridization reveals distinct localizations of schizophrenia risk-related transcripts SNX19 and AS3MT in human brain. (PMID:33649454)
  • SNX19 restricts endolysosome motility through contacts with the endoplasmic reticulum. (PMID:34315878)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriosnx19aENSDARG00000061101
danio_reriosnx19bENSDARG00000079931
mus_musculusSnx19ENSMUSG00000031993
rattus_norvegicusSnx19ENSRNOG00000014719

Paralogs (3): SNX13 (ENSG00000071189), SNX25 (ENSG00000109762), SNX14 (ENSG00000135317)

Protein

Protein identifiers

Sorting nexin-19Q92543 (reviewed: Q92543)

All UniProt accessions (4): Q92543, E7ERC7, E9PJV7, E9PLV3

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in intracellular vesicle trafficking and exocytosis. 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. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)).

Subunit / interactions. Interacts with PTPRN.

Subcellular location. Early endosome membrane. Cytoplasmic vesicle membrane.

Domain organisation. The PX domain mediates specific binding to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)).

Similarity. Belongs to the sorting nexin family.

Isoforms (2)

UniProt IDNamesCanonical?
Q92543-11yes
Q92543-22

RefSeq proteins (12): NP_001288018, NP_001334847, NP_001334848, NP_001334849, NP_001334850, NP_001334851, NP_001334852, NP_001334853, NP_001334854, NP_001334855, NP_001334856, NP_055573* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001683PX_domDomain
IPR003114Phox_assocDomain
IPR013937Sorting_nexin_CDomain
IPR036871PX_dom_sfHomologous_superfamily
IPR037909SNX19_PXDomain

Pfam: PF00787, PF02194, PF08628

UniProt features (22 total): sequence variant 6, compositionally biased region 4, region of interest 4, splice variant 3, domain 2, binding site 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q92543-F161.470.12

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 582; 629

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 132 (showing top): GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_VESICLE_ORGANIZATION, GOBP_INSULIN_SECRETION, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_REGULATION_OF_HORMONE_LEVELS, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_HORMONE_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_EXOCYTOSIS, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CHONDROCYTE_DIFFERENTIATION, GOBP_SECRETION

GO Biological Process (6): chondrocyte differentiation (GO:0002062), exocytosis (GO:0006887), insulin secretion (GO:0030073), establishment of localization in cell (GO:0051649), dense core granule maturation (GO:1990502), protein transport (GO:0015031)

GO Molecular Function (4): phosphatidylinositol-3-phosphate binding (GO:0032266), phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (6): cytoplasm (GO:0005737), early endosome membrane (GO:0031901), endosome (GO:0005768), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding2
cellular anatomical structure2
cytoplasmic vesicle2
cell differentiation1
cartilage development1
vesicle-mediated transport1
secretion by cell1
vesicle fusion to plasma membrane1
protein secretion1
peptide hormone secretion1
establishment of localization1
cellular localization1
secretory granule maturation1
transport1
intracellular protein localization1
establishment of protein localization1
phosphatidylinositol phosphate binding1
anion binding1
intracellular anatomical structure1
early endosome1
endosome membrane1
endomembrane system1
vesicle membrane1
cytoplasm1
intracellular vesicle1

Protein interactions and networks

STRING

814 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SNX19SAXO6Q8TC05545
SNX19NMRAL1Q9HBL8517
SNX19PTPRNQ16849508
SNX19ZNF513Q8N8E2487
SNX19SNX15Q9NRS6468
SNX19STARD3NLO95772455
SNX19MAD1L1Q9Y6D9435
SNX19SNX8Q9Y5X2432
SNX19SNX11Q9Y5W9427
SNX19SNX5Q9Y5X3412
SNX19SNX17Q15036404
SNX19SNX1Q13596404
SNX19MATN1P21941404
SNX19PPT2Q9UMR5404
SNX19SNX27Q96L92401

IntAct

44 interactions, top by confidence:

ABTypeScore
TSPAN5ADAM10psi-mi:“MI:0914”(association)0.800
VAPBFAM83Gpsi-mi:“MI:0914”(association)0.730
SNX19PTPRNpsi-mi:“MI:0915”(physical association)0.510
PTPRNSNX19psi-mi:“MI:0915”(physical association)0.510
ESYT2psi-mi:“MI:0914”(association)0.350
SLC15A3psi-mi:“MI:0914”(association)0.350
UNC93B1psi-mi:“MI:0914”(association)0.350
ATP6V0D1psi-mi:“MI:0914”(association)0.350
MYCpsi-mi:“MI:0914”(association)0.350
RTN3ESYT2psi-mi:“MI:0914”(association)0.350
TSPAN15TMEM223psi-mi:“MI:0914”(association)0.350
TSPAN8POTEFpsi-mi:“MI:0914”(association)0.350
SLC6A5SCAMP3psi-mi:“MI:0914”(association)0.350
HLA-FKDM5Cpsi-mi:“MI:0914”(association)0.350
APH1ASNX19psi-mi:“MI:0914”(association)0.350
FZD10PDE2Apsi-mi:“MI:0914”(association)0.350
SLC15A2LGALS8psi-mi:“MI:0914”(association)0.350
SLC19A2TMEM223psi-mi:“MI:0914”(association)0.350
SLC22A9ESYT2psi-mi:“MI:0914”(association)0.350
SLC27A6NBASpsi-mi:“MI:0914”(association)0.350
SLC2A8AP3D1psi-mi:“MI:0914”(association)0.350
SLC30A4ESYT2psi-mi:“MI:0914”(association)0.350
SLC35C2PGRMC1psi-mi:“MI:0914”(association)0.350
SLC35F1C15orf61psi-mi:“MI:0914”(association)0.350
SLC35F2EI24psi-mi:“MI:0914”(association)0.350
SLC35F3TMEM223psi-mi:“MI:0914”(association)0.350
SLC39A14ESYT2psi-mi:“MI:0914”(association)0.350
SLC39A4ESYT2psi-mi:“MI:0914”(association)0.350

BioGRID (102): SNX19 (Reconstituted Complex), SNX19 (Proximity Label-MS), SNX19 (Affinity Capture-MS), SNX19 (Proximity Label-MS), SNX19 (Proximity Label-MS), SNX19 (Affinity Capture-MS), SNX19 (Affinity Capture-RNA), SNX19 (Two-hybrid), SNX19 (Affinity Capture-Western), PTPRN (Affinity Capture-Western), SNX19 (Affinity Capture-RNA), SNX19 (Affinity Capture-MS), SNX19 (Affinity Capture-MS), SNX19 (Proximity Label-MS), SNX19 (Affinity Capture-MS)

ESM2 similar proteins: A1L3T7, A2AKB4, A2RU30, A5GFW5, A6NP61, A6QLD5, A7E316, B1ASB6, P60924, Q08DK9, Q1XFL1, Q2TAK8, Q2YDQ5, Q3TD16, Q3TYX8, Q3U132, Q3U1D0, Q400C9, Q49AM3, Q571B6, Q5JXC2, Q5JYT7, Q5RA50, Q5SYB0, Q66IK8, Q6DIL6, Q6GQ34, Q6IRU7, Q6P1D7, Q6P1H6, Q6P4T1, Q7TNY7, Q7TSI1, Q7Z572, Q80XI1, Q86V42, Q8BG26, Q8BLQ0, Q8BP86, Q8BVF9

Diamond homologs: Q6P4T1, Q92543

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
R-HSA-425366627.9×6e-06
SLC-mediated transmembrane transport1015.2×1e-07
Transport of small molecules106.5×1e-04

GO biological processes:

GO termPartnersFoldFDR
amino acid transport530.0×2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

184 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic2
Likely pathogenic0
Uncertain significance147
Likely benign12
Benign3

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
161071GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3Pathogenic
1694653GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1Pathogenic

SpliceAI

2152 predictions. Top by Δscore:

VariantEffectΔscore
11:130879619:CTTA:Cdonor_loss1.0000
11:130879620:TTAC:Tdonor_loss1.0000
11:130879621:TA:Tdonor_loss1.0000
11:130879622:A:ACdonor_gain1.0000
11:130879622:ACCTG:Adonor_loss1.0000
11:130879623:C:CCdonor_gain1.0000
11:130879623:C:CGdonor_loss1.0000
11:130879623:CCTG:Cdonor_gain1.0000
11:130879709:GAT:Gacceptor_gain1.0000
11:130879710:AT:Aacceptor_gain1.0000
11:130879710:ATC:Aacceptor_loss1.0000
11:130879712:C:CCacceptor_gain1.0000
11:130880617:ATTAC:Adonor_loss1.0000
11:130880618:TTA:Tdonor_loss1.0000
11:130880619:TA:Tdonor_loss1.0000
11:130880620:ACC:Adonor_loss1.0000
11:130880621:CCTGG:Cdonor_loss1.0000
11:130883701:AGG:Adonor_gain1.0000
11:130883726:ATTT:Adonor_gain1.0000
11:130905948:CTCA:Cdonor_loss1.0000
11:130905949:TCAC:Tdonor_loss1.0000
11:130905950:CACC:Cdonor_loss1.0000
11:130905952:C:CGdonor_loss1.0000
11:130907928:C:Adonor_gain1.0000
11:130907951:A:ACdonor_gain1.0000
11:130907952:C:CCdonor_gain1.0000
11:130907952:CTTG:Cdonor_gain1.0000
11:130910375:C:CTacceptor_gain1.0000
11:130910376:A:Tacceptor_gain1.0000
11:130911626:T:TAdonor_gain1.0000

AlphaMissense

6430 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
11:130910088:A:GF655S0.999
11:130911680:A:GL589P0.999
11:130911689:A:GF586S0.999
11:130911705:G:TR581S0.999
11:130910087:G:CF655L0.998
11:130910087:G:TF655L0.998
11:130910089:A:GF655L0.998
11:130910274:A:GL637P0.998
11:130911668:A:GL593P0.998
11:130911688:G:CF586L0.998
11:130911688:G:TF586L0.998
11:130911690:A:GF586L0.998
11:130911704:C:GR581P0.998
11:130910054:A:CF666L0.997
11:130910054:A:TF666L0.997
11:130910056:A:GF666L0.997
11:130910133:A:GL640P0.997
11:130910286:A:GL633P0.997
11:130914336:A:GI535T0.997
11:130910085:A:GL656P0.996
11:130910358:G:TP609H0.996
11:130911671:C:GR592P0.996
11:130911693:C:TE585K0.996
11:130911771:A:CY559D0.996
11:130914277:A:CY555D0.996
11:130914336:A:CI535S0.996
11:130910294:C:AK630N0.995
11:130910294:C:GK630N0.995
11:130911692:T:AE585V0.995
11:130914336:A:TI535N0.995

dbSNP variants (sampled 300 via entrez): RS1000128147 (11:130892333 T>C), RS1000165439 (11:130873491 G>A), RS1000188439 (11:130868052 G>A,C), RS1000201090 (11:130901725 C>T), RS1000243244 (11:130866652 C>A), RS1000380572 (11:130874573 C>G,T), RS1000445312 (11:130881111 G>A), RS1000477839 (11:130891926 C>G,T), RS1000539997 (11:130916714 C>G), RS1000610125 (11:130918118 C>T), RS1000621679 (11:130896631 G>A), RS1000643291 (11:130909066 A>G), RS1000647487 (11:130874812 A>G), RS1000720783 (11:130866949 T>A,C), RS1000804605 (11:130903144 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

20 associations (top):

StudyTraitp-value
GCST002149_9Schizophrenia2.000000e-09
GCST002337_94Amyotrophic lateral sclerosis (sporadic)9.000000e-06
GCST002539_11Schizophrenia1.000000e-12
GCST004521_36Autism spectrum disorder or schizophrenia1.000000e-08
GCST004521_37Autism spectrum disorder or schizophrenia1.000000e-08
GCST004946_53Schizophrenia2.000000e-08
GCST006629_33Pulse pressure8.000000e-13
GCST006803_96Schizophrenia2.000000e-11
GCST007096_198Pulse pressure4.000000e-08
GCST007201_127Schizophrenia9.000000e-09
GCST007201_316Schizophrenia2.000000e-08
GCST007269_312Pulse pressure2.000000e-08
GCST007293_105Body fat distribution (arm fat ratio)5.000000e-06
GCST007293_87Body fat distribution (arm fat ratio)4.000000e-07
GCST009391_610Metabolite levels1.000000e-07
GCST009391_668Metabolite levels3.000000e-06
GCST009600_124Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)2.000000e-09
GCST009600_96Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)2.000000e-10
GCST010988_432Adult body size5.000000e-10
GCST012490_552Femur bone mineral density x serum urate levels interaction6.000000e-09

EFO canonical traits (5, from GWAS)

EFO IDTrait name
EFO:0005763pulse pressure measurement
EFO:0004341body fat distribution
EFO:0009793isoleucine measurement
EFO:0009770leucine measurement
EFO:0004531urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects methylation, increases expression2
aristolochic acid Iincreases expression1
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
bisphenol Aaffects cotreatment, increases methylation1
beta-lapachoneincreases expression1
cobaltous chloridedecreases expression1
arsenic disulfideincreases methylation1
Sunitinibincreases expression1
Fulvestrantaffects cotreatment, increases methylation, decreases methylation1
Acetaminophendecreases expression1
Atrazinedecreases expression1
Benzo(a)pyreneaffects methylation1
Carbamazepineaffects expression1
Doxorubicindecreases expression1
Methotrexateincreases expression1
Methyl Methanesulfonateincreases expression1
Smokedecreases expression1
Valproic Acidincreases expression1
Aflatoxin B1decreases methylation1
Sodium Seleniteincreases expression1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_E2KHHAP1 SNX19 (-) 2Cancer cell lineMale
CVCL_E2KIHAP1 SNX19 (-) 3Cancer cell lineMale
CVCL_E2KJHAP1 SNX19 (-) 4Cancer cell lineMale
CVCL_E2KKHAP1 SNX19 (-) 5Cancer cell lineMale
CVCL_XT63HAP1 SNX19 (-) 1Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): sporadic amyotrophic lateral sclerosis