SNX19
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:21532 |
| Approved symbol | SNX19 |
| Name | sorting nexin 19 |
| Location | 11q24.3-q25 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0254, CHET8 |
| Ensembl gene | ENSG00000120451 |
| Ensembl biotype | protein_coding |
| Entrez | 399979 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001100145 | 130866250 | 130878554 |
| ENSE00002197008 | 130914266 | 130916479 |
| ENSE00003477865 | 130905953 | 130906133 |
| ENSE00003515515 | 130906625 | 130906721 |
| ENSE00003521354 | 130911633 | 130911771 |
| ENSE00003568410 | 130880622 | 130880806 |
| ENSE00003591737 | 130910270 | 130910370 |
| ENSE00003605645 | 130907953 | 130908083 |
| ENSE00003621693 | 130903255 | 130903384 |
| ENSE00003638003 | 130879624 | 130879711 |
| ENSE00003690319 | 130910018 | 130910137 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 123179 | 26.3157 | 1807 |
| 123178 | 0.8995 | 629 |
| 123180 | 0.8841 | 547 |
| 123177 | 0.0560 | 15 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 95.97 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.09 | gold quality |
| right coronary artery | UBERON:0001625 | 93.33 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.08 | gold quality |
| medial globus pallidus | UBERON:0002477 | 92.85 | gold quality |
| gall bladder | UBERON:0002110 | 92.81 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.14 | gold quality |
| globus pallidus | UBERON:0001875 | 92.03 | gold quality |
| corpus callosum | UBERON:0002336 | 91.86 | gold quality |
| popliteal artery | UBERON:0002250 | 91.60 | gold quality |
| tibial artery | UBERON:0007610 | 91.58 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.46 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.45 | gold quality |
| rectum | UBERON:0001052 | 91.43 | gold quality |
| lower esophagus | UBERON:0013473 | 91.43 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.36 | gold quality |
| pancreas | UBERON:0001264 | 91.31 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.28 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.26 | gold quality |
| sperm | CL:0000019 | 91.19 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 91.17 | gold quality |
| aorta | UBERON:0000947 | 91.06 | gold quality |
| left uterine tube | UBERON:0001303 | 91.03 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.02 | gold quality |
| nasopharynx | UBERON:0001728 | 91.01 | gold quality |
| body of pancreas | UBERON:0001150 | 91.00 | gold quality |
| tonsil | UBERON:0002372 | 90.99 | gold quality |
| right testis | UBERON:0004534 | 90.97 | gold quality |
| stomach | UBERON:0000945 | 90.94 | gold quality |
| body of stomach | UBERON:0001161 | 90.94 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | snx19a | ENSDARG00000061101 |
| danio_rerio | snx19b | ENSDARG00000079931 |
| mus_musculus | Snx19 | ENSMUSG00000031993 |
| rattus_norvegicus | Snx19 | ENSRNOG00000014719 |
Paralogs (3): SNX13 (ENSG00000071189), SNX25 (ENSG00000109762), SNX14 (ENSG00000135317)
Protein
Protein identifiers
Sorting nexin-19 — Q92543 (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 ID | Names | Canonical? |
|---|---|---|
| Q92543-1 | 1 | yes |
| Q92543-2 | 2 |
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)
| ID | Name | Type |
|---|---|---|
| IPR001683 | PX_dom | Domain |
| IPR003114 | Phox_assoc | Domain |
| IPR013937 | Sorting_nexin_C | Domain |
| IPR036871 | PX_dom_sf | Homologous_superfamily |
| IPR037909 | SNX19_PX | Domain |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92543-F1 | 61.47 | 0.12 |
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:
| Category | Terms |
|---|---|
| binding | 2 |
| cellular anatomical structure | 2 |
| cytoplasmic vesicle | 2 |
| cell differentiation | 1 |
| cartilage development | 1 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| protein secretion | 1 |
| peptide hormone secretion | 1 |
| establishment of localization | 1 |
| cellular localization | 1 |
| secretory granule maturation | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| phosphatidylinositol phosphate binding | 1 |
| anion binding | 1 |
| intracellular anatomical structure | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| endomembrane system | 1 |
| vesicle membrane | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
814 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNX19 | SAXO6 | Q8TC05 | 545 |
| SNX19 | NMRAL1 | Q9HBL8 | 517 |
| SNX19 | PTPRN | Q16849 | 508 |
| SNX19 | ZNF513 | Q8N8E2 | 487 |
| SNX19 | SNX15 | Q9NRS6 | 468 |
| SNX19 | STARD3NL | O95772 | 455 |
| SNX19 | MAD1L1 | Q9Y6D9 | 435 |
| SNX19 | SNX8 | Q9Y5X2 | 432 |
| SNX19 | SNX11 | Q9Y5W9 | 427 |
| SNX19 | SNX5 | Q9Y5X3 | 412 |
| SNX19 | SNX17 | Q15036 | 404 |
| SNX19 | SNX1 | Q13596 | 404 |
| SNX19 | MATN1 | P21941 | 404 |
| SNX19 | PPT2 | Q9UMR5 | 404 |
| SNX19 | SNX27 | Q96L92 | 401 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSPAN5 | ADAM10 | psi-mi:“MI:0914”(association) | 0.800 |
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| SNX19 | PTPRN | psi-mi:“MI:0915”(physical association) | 0.510 |
| PTPRN | SNX19 | psi-mi:“MI:0915”(physical association) | 0.510 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC15A3 | psi-mi:“MI:0914”(association) | 0.350 | |
| UNC93B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| ATP6V0D1 | psi-mi:“MI:0914”(association) | 0.350 | |
| MYC | psi-mi:“MI:0914”(association) | 0.350 | |
| RTN3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN8 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A5 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-F | KDM5C | psi-mi:“MI:0914”(association) | 0.350 |
| APH1A | SNX19 | psi-mi:“MI:0914”(association) | 0.350 |
| FZD10 | PDE2A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A2 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC19A2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC27A6 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A8 | AP3D1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35C2 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35F1 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35F2 | EI24 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35F3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A14 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A4 | ESYT2 | psi-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:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| R-HSA-425366 | 6 | 27.9× | 6e-06 |
| SLC-mediated transmembrane transport | 10 | 15.2× | 1e-07 |
| Transport of small molecules | 10 | 6.5× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| amino acid transport | 5 | 30.0× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
184 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 147 |
| Likely benign | 12 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 161071 | GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 | Pathogenic |
| 1694653 | GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1 | Pathogenic |
SpliceAI
2152 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:130879619:CTTA:C | donor_loss | 1.0000 |
| 11:130879620:TTAC:T | donor_loss | 1.0000 |
| 11:130879621:TA:T | donor_loss | 1.0000 |
| 11:130879622:A:AC | donor_gain | 1.0000 |
| 11:130879622:ACCTG:A | donor_loss | 1.0000 |
| 11:130879623:C:CC | donor_gain | 1.0000 |
| 11:130879623:C:CG | donor_loss | 1.0000 |
| 11:130879623:CCTG:C | donor_gain | 1.0000 |
| 11:130879709:GAT:G | acceptor_gain | 1.0000 |
| 11:130879710:AT:A | acceptor_gain | 1.0000 |
| 11:130879710:ATC:A | acceptor_loss | 1.0000 |
| 11:130879712:C:CC | acceptor_gain | 1.0000 |
| 11:130880617:ATTAC:A | donor_loss | 1.0000 |
| 11:130880618:TTA:T | donor_loss | 1.0000 |
| 11:130880619:TA:T | donor_loss | 1.0000 |
| 11:130880620:ACC:A | donor_loss | 1.0000 |
| 11:130880621:CCTGG:C | donor_loss | 1.0000 |
| 11:130883701:AGG:A | donor_gain | 1.0000 |
| 11:130883726:ATTT:A | donor_gain | 1.0000 |
| 11:130905948:CTCA:C | donor_loss | 1.0000 |
| 11:130905949:TCAC:T | donor_loss | 1.0000 |
| 11:130905950:CACC:C | donor_loss | 1.0000 |
| 11:130905952:C:CG | donor_loss | 1.0000 |
| 11:130907928:C:A | donor_gain | 1.0000 |
| 11:130907951:A:AC | donor_gain | 1.0000 |
| 11:130907952:C:CC | donor_gain | 1.0000 |
| 11:130907952:CTTG:C | donor_gain | 1.0000 |
| 11:130910375:C:CT | acceptor_gain | 1.0000 |
| 11:130910376:A:T | acceptor_gain | 1.0000 |
| 11:130911626:T:TA | donor_gain | 1.0000 |
AlphaMissense
6430 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:130910088:A:G | F655S | 0.999 |
| 11:130911680:A:G | L589P | 0.999 |
| 11:130911689:A:G | F586S | 0.999 |
| 11:130911705:G:T | R581S | 0.999 |
| 11:130910087:G:C | F655L | 0.998 |
| 11:130910087:G:T | F655L | 0.998 |
| 11:130910089:A:G | F655L | 0.998 |
| 11:130910274:A:G | L637P | 0.998 |
| 11:130911668:A:G | L593P | 0.998 |
| 11:130911688:G:C | F586L | 0.998 |
| 11:130911688:G:T | F586L | 0.998 |
| 11:130911690:A:G | F586L | 0.998 |
| 11:130911704:C:G | R581P | 0.998 |
| 11:130910054:A:C | F666L | 0.997 |
| 11:130910054:A:T | F666L | 0.997 |
| 11:130910056:A:G | F666L | 0.997 |
| 11:130910133:A:G | L640P | 0.997 |
| 11:130910286:A:G | L633P | 0.997 |
| 11:130914336:A:G | I535T | 0.997 |
| 11:130910085:A:G | L656P | 0.996 |
| 11:130910358:G:T | P609H | 0.996 |
| 11:130911671:C:G | R592P | 0.996 |
| 11:130911693:C:T | E585K | 0.996 |
| 11:130911771:A:C | Y559D | 0.996 |
| 11:130914277:A:C | Y555D | 0.996 |
| 11:130914336:A:C | I535S | 0.996 |
| 11:130910294:C:A | K630N | 0.995 |
| 11:130910294:C:G | K630N | 0.995 |
| 11:130911692:T:A | E585V | 0.995 |
| 11:130914336:A:T | I535N | 0.995 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST002149_9 | Schizophrenia | 2.000000e-09 |
| GCST002337_94 | Amyotrophic lateral sclerosis (sporadic) | 9.000000e-06 |
| GCST002539_11 | Schizophrenia | 1.000000e-12 |
| GCST004521_36 | Autism spectrum disorder or schizophrenia | 1.000000e-08 |
| GCST004521_37 | Autism spectrum disorder or schizophrenia | 1.000000e-08 |
| GCST004946_53 | Schizophrenia | 2.000000e-08 |
| GCST006629_33 | Pulse pressure | 8.000000e-13 |
| GCST006803_96 | Schizophrenia | 2.000000e-11 |
| GCST007096_198 | Pulse pressure | 4.000000e-08 |
| GCST007201_127 | Schizophrenia | 9.000000e-09 |
| GCST007201_316 | Schizophrenia | 2.000000e-08 |
| GCST007269_312 | Pulse pressure | 2.000000e-08 |
| GCST007293_105 | Body fat distribution (arm fat ratio) | 5.000000e-06 |
| GCST007293_87 | Body fat distribution (arm fat ratio) | 4.000000e-07 |
| GCST009391_610 | Metabolite levels | 1.000000e-07 |
| GCST009391_668 | Metabolite levels | 3.000000e-06 |
| GCST009600_124 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 2.000000e-09 |
| GCST009600_96 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 2.000000e-10 |
| GCST010988_432 | Adult body size | 5.000000e-10 |
| GCST012490_552 | Femur bone mineral density x serum urate levels interaction | 6.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0004341 | body fat distribution |
| EFO:0009793 | isoleucine measurement |
| EFO:0009770 | leucine measurement |
| EFO:0004531 | urate 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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| arsenic disulfide | increases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation, decreases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2KH | HAP1 SNX19 (-) 2 | Cancer cell line | Male |
| CVCL_E2KI | HAP1 SNX19 (-) 3 | Cancer cell line | Male |
| CVCL_E2KJ | HAP1 SNX19 (-) 4 | Cancer cell line | Male |
| CVCL_E2KK | HAP1 SNX19 (-) 5 | Cancer cell line | Male |
| CVCL_XT63 | HAP1 SNX19 (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- 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