SNX4
geneOn this page
Also known as ATG24B
Summary
SNX4 (sorting nexin 4, HGNC:11175) is a protein-coding gene on chromosome 3q21.2, encoding Sorting nexin-4 (O95219). Involved in the regulation of endocytosis and in several stages of intracellular trafficking.
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene.
Source: NCBI Gene 8723 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 67 total
- MANE Select transcript:
NM_003794
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11175 |
| Approved symbol | SNX4 |
| Name | sorting nexin 4 |
| Location | 3q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATG24B |
| Ensembl gene | ENSG00000114520 |
| Ensembl biotype | protein_coding |
| OMIM | 605931 |
| Entrez | 8723 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 13 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000251775, ENST00000465505, ENST00000471751, ENST00000473417, ENST00000482965, ENST00000873370, ENST00000873371, ENST00000873372, ENST00000873373, ENST00000873374, ENST00000873375, ENST00000873376, ENST00000873377, ENST00000873378, ENST00000945404, ENST00000945405, ENST00000945406
RefSeq mRNA: 1 — MANE Select: NM_003794
NM_003794
CCDS: CCDS3032
Canonical transcript exons
ENST00000251775 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001246362 | 125446650 | 125447826 |
| ENSE00001246368 | 125520032 | 125520202 |
| ENSE00003471682 | 125480247 | 125480319 |
| ENSE00003478078 | 125453810 | 125453955 |
| ENSE00003499630 | 125489408 | 125489463 |
| ENSE00003504549 | 125498059 | 125498194 |
| ENSE00003514508 | 125460771 | 125460860 |
| ENSE00003556431 | 125457266 | 125457365 |
| ENSE00003569423 | 125469454 | 125469519 |
| ENSE00003583805 | 125451305 | 125451419 |
| ENSE00003585862 | 125497834 | 125497983 |
| ENSE00003585874 | 125504623 | 125504744 |
| ENSE00003657134 | 125497341 | 125497388 |
| ENSE00003684216 | 125476695 | 125476756 |
Expression profiles
Bgee: expression breadth ubiquitous, 298 present calls, max score 97.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.9078 / max 812.6196, expressed in 1823 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44302 | 45.6166 | 1823 |
| 44301 | 0.2912 | 73 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.47 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.40 | gold quality |
| cortical plate | UBERON:0005343 | 95.12 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.44 | gold quality |
| nephron tubule | UBERON:0001231 | 94.07 | gold quality |
| tendon | UBERON:0000043 | 93.80 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.47 | gold quality |
| ventricular zone | UBERON:0003053 | 92.89 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.73 | gold quality |
| duodenum | UBERON:0002114 | 92.67 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 92.55 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 92.49 | gold quality |
| tibia | UBERON:0000979 | 92.21 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.14 | gold quality |
| rectum | UBERON:0001052 | 92.04 | gold quality |
| oocyte | CL:0000023 | 91.69 | gold quality |
| kidney epithelium | UBERON:0004819 | 91.19 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.11 | gold quality |
| kidney | UBERON:0002113 | 90.87 | gold quality |
| sperm | CL:0000019 | 90.84 | gold quality |
| renal glomerulus | UBERON:0000074 | 90.77 | gold quality |
| corpus callosum | UBERON:0002336 | 90.71 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 90.70 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 90.68 | gold quality |
| jejunum | UBERON:0002115 | 90.36 | gold quality |
| cortex of kidney | UBERON:0001225 | 90.29 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.26 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.00 | gold quality |
| medial globus pallidus | UBERON:0002477 | 89.95 | gold quality |
| liver | UBERON:0002107 | 89.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
126 targeting SNX4, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
Literature-anchored findings (GeneRIF, showing 8)
- Sorting nexin 4 and amphiphysin 2 have roles in endocytosis and intracellular trafficking (PMID:12668730)
- study indicates that hVps34 and its product PI(3)P are involved in endosome to Golgi transport of ricin, and that SNX2 and SNX4 are likely to be effectors in this pathway (PMID:17319803)
- by driving membrane tubulation, SNX4 coordinates iterative, geometric-based sorting of the TfnR with the long-range transport of carriers from early endosomes to the ERC (PMID:17994011)
- clathrin serving as a regulator of SNX4-dependent transport; upon clathrin release, dynein may bind SNX4 and mediate retrograde movement (PMID:19529763)
- SNX4, but not SNX1 and SNX8, is associated with the Rab11-recycling endosomes and that a high frequency of SNX4-mediated tubule formation is observed as endosomes undergo Rab4-to-Rab11 transition. (PMID:21973056)
- alpha-taxilin interacts with SNX4 and plays a role in the recycling pathway of TfnR. (PMID:24690921)
- Results indicate that SNX4-mediated regulation of the steady-state levels and trafficking of BACE1, as well as the subsequent increase in BACE1-mediated cleavage, may be relevant to Alzheimer’s disease progression. (PMID:28109317)
- The phosphatidylinositol 3-phosphate-binding protein SNX4 controls ATG9A recycling and autophagy. (PMID:33468622)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | snx4 | ENSDARG00000022659 |
| mus_musculus | Snx4 | ENSMUSG00000022808 |
| rattus_norvegicus | Snx4 | ENSRNOG00000001786 |
Paralogs (15): SNX11 (ENSG00000002919), SNX1 (ENSG00000028528), SNX10 (ENSG00000086300), SNX5 (ENSG00000089006), SNX8 (ENSG00000106266), SNX3 (ENSG00000112335), SNX6 (ENSG00000129515), SNX9 (ENSG00000130340), SNX12 (ENSG00000147164), SNX30 (ENSG00000148158), SNX7 (ENSG00000162627), SNX32 (ENSG00000172803), SNX33 (ENSG00000173548), SNX18 (ENSG00000178996), SNX2 (ENSG00000205302)
Protein
Protein identifiers
Sorting nexin-4 — O95219 (reviewed: O95219)
All UniProt accessions (3): O95219, F8W9T3, F8WDD4
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the regulation of endocytosis and in several stages of intracellular trafficking. Plays a role in recycling endocytosed transferrin receptor and prevent its degradation. Involved in autophagosome assembly by regulating trafficking and recycling of phospholipid scramblase ATG9A.
Subunit / interactions. Heterodimer; heterodimerizes with SNX7 or SNX30. Interacts with SNX32. Interacts with WWC1/KIBRA. Identified in a complex with WWC1/KIBRA and dynein components DYNLL1 and DYNC1I2. Interacts with BIN1.
Subcellular location. Early endosome membrane.
Domain organisation. The PX domain binds phosphatidylinositol 3-phosphate which is necessary for peripheral membrane localization.
Similarity. Belongs to the sorting nexin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95219-1 | 1 | yes |
| O95219-2 | 2 |
RefSeq proteins (1): NP_003785* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001683 | PX_dom | Domain |
| IPR027267 | AH/BAR_dom_sf | Homologous_superfamily |
| IPR034783 | SNX4 | Family |
| IPR034902 | PX_SNX4 | Domain |
| IPR036871 | PX_dom_sf | Homologous_superfamily |
| IPR037430 | SNX4_BAR | Domain |
Pfam: PF00787
UniProt features (11 total): binding site 4, modified residue 2, chain 1, domain 1, mutagenesis site 1, region of interest 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95219-F1 | 84.73 | 0.65 |
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 (4): 106; 108; 132; 154
Post-translational modifications (2): 1, 22
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 132 | abolishes phosphatidylinositol phosphate binding. abolishes endosomal location. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 251 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_VACUOLE_ORGANIZATION, GOBP_INFLAMMATORY_RESPONSE, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_DEGRANULATION, GOBP_POSITIVE_REGULATION_OF_VACUOLE_ORGANIZATION, MORF_BRCA1, MORF_ATRX, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VACUOLE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS
GO Biological Process (4): protein transport (GO:0015031), endocytic recycling (GO:0032456), positive regulation of histamine secretion by mast cell (GO:1903595), positive regulation of autophagosome assembly (GO:2000786)
GO Molecular Function (8): epidermal growth factor receptor binding (GO:0005154), insulin receptor binding (GO:0005158), phosphatidylinositol-3-phosphate binding (GO:0032266), phosphatidylinositol binding (GO:0035091), transferrin receptor binding (GO:1990459), leptin receptor binding (GO:1990460), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (10): cytoplasm (GO:0005737), early endosome (GO:0005769), cytoplasmic dynein complex (GO:0005868), plasma membrane (GO:0005886), membrane (GO:0016020), SNARE complex (GO:0031201), early endosome membrane (GO:0031901), protein-containing complex (GO:0032991), presynaptic endosome (GO:0098830), endosome (GO:0005768)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signaling receptor binding | 3 |
| binding | 2 |
| cellular anatomical structure | 2 |
| endosome | 2 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| endosomal transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| histamine secretion by mast cell | 1 |
| positive regulation of mast cell degranulation | 1 |
| positive regulation of hormone secretion | 1 |
| positive regulation of inflammatory response | 1 |
| positive regulation of multicellular organismal process | 1 |
| regulation of histamine secretion by mast cell | 1 |
| autophagosome assembly | 1 |
| positive regulation of macroautophagy | 1 |
| positive regulation of vacuole organization | 1 |
| positive regulation of organelle assembly | 1 |
| regulation of autophagosome assembly | 1 |
| growth factor receptor binding | 1 |
| phosphatidylinositol phosphate binding | 1 |
| anion binding | 1 |
| intracellular anatomical structure | 1 |
| dynein complex | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| membrane protein complex | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| cellular_component | 1 |
| presynapse | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
1702 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNX4 | SNX1 | Q13596 | 976 |
| SNX4 | SNX6 | Q9UNH7 | 910 |
| SNX4 | SERPINE2 | P07093 | 893 |
| SNX4 | SNX5 | Q9Y5X3 | 845 |
| SNX4 | WWC1 | Q8IX03 | 831 |
| SNX4 | SNX15 | Q9NRS6 | 803 |
| SNX4 | LEPR | P48357 | 791 |
| SNX4 | VPS35 | Q96QK1 | 764 |
| SNX4 | VPS26A | O75436 | 762 |
| SNX4 | VPS29 | Q9UBQ0 | 753 |
| SNX4 | SNX7 | Q9UNH6 | 739 |
| SNX4 | SNX17 | Q15036 | 720 |
| SNX4 | IFT122 | Q9HBG6 | 706 |
| SNX4 | SNX3 | O60493 | 694 |
| SNX4 | TFRC | P02786 | 658 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNX4 | SNX30 | psi-mi:“MI:0914”(association) | 0.830 |
| SNX4 | SNX30 | psi-mi:“MI:0915”(physical association) | 0.830 |
| CFTR | XPO1 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SNX7 | SNX4 | psi-mi:“MI:0914”(association) | 0.670 |
| SNX4 | SNX7 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SNX7 | SNX4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| BIN1 | SNX4 | psi-mi:“MI:0915”(physical association) | 0.630 |
| SNX4 | BIN1 | psi-mi:“MI:0915”(physical association) | 0.630 |
| MAGEA6 | SNX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL6IP1 | SNX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNX4 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNX4 | SH3GLB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNX4 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SNX4 | Bin1 | psi-mi:“MI:0915”(physical association) | 0.460 |
| Bin1 | SNX4 | psi-mi:“MI:0403”(colocalization) | 0.460 |
BioGRID (88): SNX4 (Two-hybrid), ARL6IP1 (Two-hybrid), SNX4 (Affinity Capture-MS), SNX4 (Proximity Label-MS), SNX4 (Two-hybrid), SNX4 (Proximity Label-MS), SNX30 (Affinity Capture-MS), SNX4 (Affinity Capture-MS), ANKMY2 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), CACYBP (Affinity Capture-MS), SNX4 (Affinity Capture-MS), SNX4 (Proximity Label-MS), SNX4 (Affinity Capture-Western), SNX4 (Proximity Label-MS)
ESM2 similar proteins: A0A098DRQ4, A1A4L0, A1CAN8, A1DF15, A1L1C7, A6RJQ7, A7E559, A7KAL4, B2AVN3, C8VDI2, C8VDQ4, I1RKA1, I1S4N7, O60749, O95219, P0C220, P83094, Q0WQF4, Q2TBW7, Q2U7R4, Q2UB56, Q4IR87, Q4WCV3, Q4WUE5, Q4WZF1, Q524W4, Q5AZC9, Q5R4C2, Q5R6M6, Q5R9A9, Q6NRZ4, Q6P3Q6, Q6PCS4, Q6VVX2, Q7SB54, Q7SB97, Q8J2R3, Q8K3H0, Q8VWF1, Q91VH2
Diamond homologs: A1A4L0, O14120, O60107, O60493, O70492, O70493, O94291, O95219, P0C220, P0CR60, P0CR61, P40959, Q04053, Q08DD7, Q1RMH8, Q28GP7, Q2KHV6, Q2U4K2, Q3MPQ4, Q4I1H6, Q4P1V3, Q4PHC3, Q4VAA7, Q4WWS3, Q4WZF1, Q59TN9, Q5A748, Q5AD77, Q5AZC9, Q5R4C2, Q5R5V1, Q5R7A7, Q5R9A9, Q5U211, Q6BIS2, Q6BZE1, Q6C2S9, Q6CHY6, Q6CUC4, Q6CWX3
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 |
|---|---|---|---|
| Clathrin-mediated endocytosis | 6 | 15.5× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| endocytosis | 7 | 13.9× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2736 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:125451301:CTA:C | donor_loss | 1.0000 |
| 3:125451302:TAC:T | donor_loss | 1.0000 |
| 3:125451304:CCTT:C | donor_loss | 1.0000 |
| 3:125451317:A:AC | donor_gain | 1.0000 |
| 3:125451318:C:CC | donor_gain | 1.0000 |
| 3:125451318:CTGAT:C | donor_gain | 1.0000 |
| 3:125451322:T:C | donor_gain | 1.0000 |
| 3:125451338:G:C | donor_gain | 1.0000 |
| 3:125451351:T:TA | donor_gain | 1.0000 |
| 3:125451415:ATTCT:A | acceptor_gain | 1.0000 |
| 3:125451416:TTCT:T | acceptor_gain | 1.0000 |
| 3:125451417:TCTC:T | acceptor_loss | 1.0000 |
| 3:125451418:CT:C | acceptor_gain | 1.0000 |
| 3:125451420:C:CC | acceptor_gain | 1.0000 |
| 3:125451421:T:A | acceptor_loss | 1.0000 |
| 3:125451425:A:AC | acceptor_gain | 1.0000 |
| 3:125453835:G:C | donor_gain | 1.0000 |
| 3:125453951:ACAGT:A | acceptor_gain | 1.0000 |
| 3:125453952:CAGT:C | acceptor_gain | 1.0000 |
| 3:125453952:CAGTC:C | acceptor_gain | 1.0000 |
| 3:125453953:AGT:A | acceptor_gain | 1.0000 |
| 3:125453954:GT:G | acceptor_gain | 1.0000 |
| 3:125453955:TCTA:T | acceptor_loss | 1.0000 |
| 3:125453956:C:CC | acceptor_gain | 1.0000 |
| 3:125453956:C:CG | acceptor_loss | 1.0000 |
| 3:125457264:AC:A | donor_gain | 1.0000 |
| 3:125457264:ACC:A | donor_gain | 1.0000 |
| 3:125457265:CC:C | donor_gain | 1.0000 |
| 3:125457265:CCC:C | donor_gain | 1.0000 |
| 3:125457361:CAGCC:C | acceptor_gain | 1.0000 |
AlphaMissense
2974 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:125447814:A:G | W440R | 1.000 |
| 3:125447814:A:T | W440R | 1.000 |
| 3:125469469:C:T | G280D | 1.000 |
| 3:125469515:A:G | W265R | 1.000 |
| 3:125469515:A:T | W265R | 1.000 |
| 3:125476707:C:T | G259D | 1.000 |
| 3:125497898:A:G | L162P | 1.000 |
| 3:125497910:A:G | L158S | 1.000 |
| 3:125497919:C:G | R155P | 1.000 |
| 3:125497922:C:G | R154P | 1.000 |
| 3:125497933:A:C | F150L | 1.000 |
| 3:125497933:A:T | F150L | 1.000 |
| 3:125497935:A:G | F150L | 1.000 |
| 3:125498144:C:G | R105P | 1.000 |
| 3:125447812:C:A | W440C | 0.999 |
| 3:125447812:C:G | W440C | 0.999 |
| 3:125451345:A:G | L422P | 0.999 |
| 3:125451403:C:G | A403P | 0.999 |
| 3:125469458:C:G | D284H | 0.999 |
| 3:125469469:C:A | G280V | 0.999 |
| 3:125469470:C:G | G280R | 0.999 |
| 3:125469472:G:T | A279D | 0.999 |
| 3:125469473:C:G | A279P | 0.999 |
| 3:125469481:A:G | L276P | 0.999 |
| 3:125469510:A:C | S266R | 0.999 |
| 3:125469510:A:T | S266R | 0.999 |
| 3:125469512:T:G | S266R | 0.999 |
| 3:125476707:C:A | G259V | 0.999 |
| 3:125476708:C:G | G259R | 0.999 |
| 3:125497379:A:G | W187R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000007594 (3:125470307 G>A,C,T), RS1000016362 (3:125513332 T>C), RS1000140477 (3:125475766 CAGG>C), RS1000189888 (3:125495746 G>A), RS1000190564 (3:125500034 T>A,C), RS1000257967 (3:125489258 A>G), RS1000294448 (3:125446608 T>G), RS1000343129 (3:125477425 A>G), RS1000363178 (3:125483612 C>T), RS1000415766 (3:125483934 G>A), RS1000492532 (3:125513664 T>A,C), RS1000520487 (3:125451623 A>G), RS1000525074 (3:125510820 A>G), RS1000581292 (3:125491394 G>A,C,T), RS1000588508 (3:125452823 T>C)
Disease associations
OMIM: gene MIM:605931 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008745_39 | Estimated glomerular filtration rate in non-diabetics | 3.000000e-08 |
| GCST008972_34 | Urate levels | 4.000000e-10 |
| GCST010988_112 | Adult body size | 4.000000e-08 |
| GCST012305_5 | Major depressive disorder x sex interaction | 3.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, affects methylation, decreases expression, affects cotreatment | 3 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 3 |
| bisphenol A | decreases expression | 2 |
| Air Pollutants | increases oxidation, decreases expression, affects cotreatment, increases abundance | 2 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| cobaltous chloride | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| trovafloxacin | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects expression, affects response to substance | 1 |
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): major depressive disorder