SLC45A4
gene geneOn this page
Also known as KIAA1126
Summary
SLC45A4 (solute carrier family 45 member 4, HGNC:29196) is a protein-coding gene on chromosome 8q24.3, encoding Polyamine-transporter SLC45A4 (Q5BKX6). Neuronal polyamine-transporter involved in pain perception.
Predicted to enable sucrose:proton symporter activity. Predicted to be involved in sucrose transport. Predicted to be active in membrane.
Source: NCBI Gene 57210 — RefSeq curated summary.
At a glance
- GWAS associations: 24
- Clinical variants (ClinVar): 205 total
- MANE Select transcript:
NM_001286646
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29196 |
| Approved symbol | SLC45A4 |
| Name | solute carrier family 45 member 4 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1126 |
| Ensembl gene | ENSG00000022567 |
| Ensembl biotype | protein_coding |
| OMIM | 619581 |
| Entrez | 57210 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000024061, ENST00000517878, ENST00000519067, ENST00000519986, ENST00000520137, ENST00000521804, ENST00000851763, ENST00000937919, ENST00000937920, ENST00000937921
RefSeq mRNA: 3 — MANE Select: NM_001286646
NM_001080431, NM_001286646, NM_001286648
CCDS: CCDS34948, CCDS69550, CCDS75795
Canonical transcript exons
ENST00000517878 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000664773 | 141215759 | 141215970 |
| ENSE00000664774 | 141217090 | 141217189 |
| ENSE00001115284 | 141218011 | 141219029 |
| ENSE00001647269 | 141253989 | 141254629 |
| ENSE00001801117 | 141212197 | 141212556 |
| ENSE00002092254 | 141207174 | 141211697 |
| ENSE00003515680 | 141221577 | 141221765 |
| ENSE00003550226 | 141219650 | 141219829 |
| ENSE00003899781 | 141308096 | 141308288 |
Expression profiles
Bgee: expression breadth ubiquitous, 230 present calls, max score 95.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.8768 / max 1770.1519, expressed in 1751 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 95384 | 13.5747 | 1249 |
| 95385 | 6.8628 | 1615 |
| 95386 | 1.0009 | 595 |
| 95387 | 0.4219 | 220 |
| 95383 | 0.0166 | 5 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 95.69 | gold quality |
| endothelial cell | CL:0000115 | 94.89 | gold quality |
| blood | UBERON:0000178 | 90.00 | gold quality |
| kidney epithelium | UBERON:0004819 | 87.73 | silver quality |
| pigmented layer of retina | UBERON:0001782 | 87.43 | gold quality |
| retina | UBERON:0000966 | 87.40 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 86.75 | silver quality |
| postcentral gyrus | UBERON:0002581 | 85.12 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 85.04 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 84.98 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.65 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.53 | gold quality |
| parietal lobe | UBERON:0001872 | 84.29 | gold quality |
| occipital lobe | UBERON:0002021 | 83.32 | gold quality |
| bronchial epithelial cell | CL:0002328 | 83.11 | gold quality |
| ileal mucosa | UBERON:0000331 | 82.72 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 82.68 | gold quality |
| eye | UBERON:0000970 | 82.63 | gold quality |
| bronchus | UBERON:0002185 | 82.47 | gold quality |
| placenta | UBERON:0001987 | 82.09 | gold quality |
| renal medulla | UBERON:0000362 | 82.07 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 82.05 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 81.86 | silver quality |
| adenohypophysis | UBERON:0002196 | 81.42 | gold quality |
| pituitary gland | UBERON:0000007 | 81.30 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 81.06 | gold quality |
| bone marrow cell | CL:0002092 | 80.76 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.46 | gold quality |
| prefrontal cortex | UBERON:0000451 | 80.44 | gold quality |
| frontal cortex | UBERON:0001870 | 80.42 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 25.54 |
| E-ANND-3 | yes | 3.52 |
| E-MTAB-6142 | no | 34.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
183 targeting SLC45A4, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
Literature-anchored findings (GeneRIF, showing 2)
- SLC45A4 promotes glycolysis and prevents AMPK/ULK1-induced autophagy in TP53 mutant pancreatic ductal adenocarcinoma. (PMID:34010493)
- The Slc45a4 Gene Regulates Pigmentation in a Manner Distinct from that of the OCA4 Gene Slc45a2. (PMID:37775036)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc45a4b | ENSDARG00000077326 |
| danio_rerio | SLC45A4 | ENSDARG00000104981 |
| mus_musculus | Slc45a4 | ENSMUSG00000079020 |
| rattus_norvegicus | Slc45a4 | ENSRNOG00000007818 |
| drosophila_melanogaster | Slc45-1 | FBGN0035968 |
| drosophila_melanogaster | lovit | FBGN0267429 |
Paralogs (3): SLC45A3 (ENSG00000158715), SLC45A1 (ENSG00000162426), SLC45A2 (ENSG00000164175)
Protein
Protein identifiers
Polyamine-transporter SLC45A4 — Q5BKX6 (reviewed: Q5BKX6)
Alternative names: Solute carrier family 45 member 4
All UniProt accessions (4): E5RGN5, E5RJM7, E7EV90, Q5BKX6
UniProt curated annotations — full annotation on UniProt →
Function. Neuronal polyamine-transporter involved in pain perception. Transports polyamines such as putrescine, cadaverine, spermine and spermidine. Expressed in sensory neuron subtypes within the dorsal root ganglion, where it regulates the excitability of C-polymodal nociceptors by mediating polyamine transport.
Subcellular location. Cell membrane.
Similarity. Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5BKX6-1 | 1 | yes |
| Q5BKX6-2 | 2 | |
| Q5BKX6-3 | 3 |
RefSeq proteins (3): NP_001073900, NP_001273575, NP_001273577 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011701 | MFS | Family |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
Pfam: PF07690
Catalyzed reactions (Rhea), 2 shown:
- spermidine(in) = spermidine(out) (RHEA:35039)
- putrescine(out) = putrescine(in) (RHEA:72135)
UniProt features (52 total): topological domain 13, transmembrane region 12, mutagenesis site 10, region of interest 5, modified residue 4, splice variant 3, sequence variant 2, chain 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9GIU | ELECTRON MICROSCOPY | 2.8 |
| 9GHZ | ELECTRON MICROSCOPY | 3.25 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5BKX6-F1 | 65.66 | 0.34 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 424, 454, 485, 732
Mutagenesis-validated functional residues (10):
| Position | Phenotype |
|---|---|
| 63 | abolished polyamine-transporter activity. |
| 66 | abolished polyamine-transporter activity. |
| 66 | does not affect the polyamine-transporter activity. |
| 169 | abolished polyamine-transporter activity. |
| 173 | abolished polyamine-transporter activity. |
| 176 | abolished polyamine-transporter activity. |
| 450–453 | does not affect the polyamine-transporter activity. |
| 519 | decreased polyamine-transporter activity. |
| 672 | decreased polyamine-transporter activity. |
| 672 | slightly decreased polyamine-transporter activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 147 (showing top):
GOBP_CARBOHYDRATE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_SENSORY_PERCEPTION_OF_PAIN, MODULE_205, LIAO_METASTASIS, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_SENSORY_PERCEPTION, GOBP_ORGANIC_CATION_TRANSPORT, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_TRANSMEMBRANE_TRANSPORT, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, GOMF_MONOATOMIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_SOLUTE_MONOATOMIC_CATION_SYMPORTER_ACTIVITY
GO Biological Process (5): sucrose transport (GO:0015770), sensory perception of pain (GO:0019233), carbohydrate transmembrane transport (GO:0034219), transmembrane transport (GO:0055085), proton transmembrane transport (GO:1902600)
GO Molecular Function (8): spermine transmembrane transporter activity (GO:0000297), sucrose:proton symporter activity (GO:0008506), polyamine transmembrane transporter activity (GO:0015203), putrescine transmembrane transporter activity (GO:0015489), spermidine transmembrane transporter activity (GO:0015606), carbohydrate:proton symporter activity (GO:0005351), symporter activity (GO:0015293), transmembrane transporter activity (GO:0022857)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| polyamine transmembrane transporter activity | 3 |
| transmembrane transport | 2 |
| disaccharide transport | 1 |
| sensory perception | 1 |
| carbohydrate transport | 1 |
| transport | 1 |
| cellular process | 1 |
| monoatomic cation transmembrane transport | 1 |
| spermine transmembrane transport | 1 |
| carbohydrate:proton symporter activity | 1 |
| sucrose:monoatomic cation symporter activity | 1 |
| transmembrane transporter activity | 1 |
| polyamine transmembrane transport | 1 |
| putrescine transport | 1 |
| spermidine transmembrane transport | 1 |
| carbohydrate:monoatomic cation symporter activity | 1 |
| solute:proton symporter activity | 1 |
| secondary active transmembrane transporter activity | 1 |
| transporter activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
870 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC45A4 | DENND3 | A2RUS2 | 542 |
| SLC45A4 | CHRAC1 | Q9NRG0 | 491 |
| SLC45A4 | ATP7A | Q04656 | 448 |
| SLC45A4 | TRAPPC9 | Q96Q05 | 445 |
| SLC45A4 | EPS8L3 | Q8TE67 | 435 |
| SLC45A4 | CCDC82 | Q8N4S0 | 426 |
| SLC45A4 | SLC66A1LP | A1A4F0 | 392 |
| SLC45A4 | SLC35B3 | Q9H1N7 | 367 |
| SLC45A4 | DCDC2B | A2VCK2 | 367 |
| SLC45A4 | SLC31A1 | O15431 | 366 |
| SLC45A4 | SDK1 | Q7Z5N4 | 364 |
| SLC45A4 | PTK2 | Q05397 | 362 |
| SLC45A4 | OR8K5 | Q8NH50 | 356 |
| SLC45A4 | NAT14 | Q8WUY8 | 348 |
| SLC45A4 | GARIN1B | Q96KD3 | 334 |
| SLC45A4 | SLC15A5 | A6NIM6 | 334 |
IntAct
108 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC45A4 | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | IL16 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | SNTB1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | SNTA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | SNTG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PDZD7 | SLC45A4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | HTRA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | RHPN1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | GIPC2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | SNTG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | LNX2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | ARHGAP21 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | RADIL | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | ARHGEF11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC45A4 | HTRA4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (40): SLC45A4 (Affinity Capture-MS), SLC45A4 (Affinity Capture-RNA), SLC45A4 (Two-hybrid), ANKLE2 (Affinity Capture-MS), VPS25 (Affinity Capture-MS), UBQLN1 (Affinity Capture-MS), SLC45A4 (Affinity Capture-MS), SNF8 (Affinity Capture-MS), UBQLN4 (Affinity Capture-MS), SLC45A4 (Affinity Capture-RNA), SLC45A4 (Protein-peptide), SLC45A4 (Affinity Capture-RNA), CNNM1 (Affinity Capture-MS), CSNK1A1 (Affinity Capture-MS), EIF3CL (Affinity Capture-MS)
ESM2 similar proteins: A0A125YQS6, A0A125YY03, A0A7J6K338, A1Z7R6, A4IHK6, A5K9W3, G4SDH4, J9UD11, O43306, O60266, O75387, O76269, O76343, P14773, P30804, P48768, Q01341, Q03343, Q04400, Q0C8L9, Q0VCM6, Q41706, Q4D3E8, Q4X251, Q57VW6, Q5B0V6, Q5BKX6, Q5RF58, Q5ZMT9, Q6C520, Q6CGU8, Q7Z8U2, Q8BIV7, Q8BSM7, Q8CGA3, Q8K4S3, Q8K596, Q8N370, Q93380, Q93Z75
Diamond homologs: A2X6E6, A2ZN77, B8AF63, O80605, Q03411, Q0ILJ3, Q10R54, Q39231, Q39232, Q5BKX6, Q67YF8, Q69JW3, Q6A329, Q6YK44, Q944W2, Q948L0, Q9C8X2, Q9FE59, Q9FG00, Q9LKH3, Q9ZVK6, O14091, Q8BIV7, P58355, Q0P5V9, Q4LE88, Q8K4S3, Q9UMX9, Q9Y2W3, Q8K0H7, Q95KI5, Q96JT2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 77 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 |
|---|---|---|---|
| Dopamine Neurotransmitter Release Cycle | 5 | 50.7× | 2e-06 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 46.6× | 2e-11 |
| Neurexins and neuroligins | 11 | 44.2× | 1e-13 |
| Protein-protein interactions at synapses | 7 | 37.9× | 3e-08 |
| RHOA GTPase cycle | 5 | 7.6× | 4e-03 |
| Neuronal System | 7 | 6.3× | 1e-03 |
| RHO GTPase cycle | 5 | 6.1× | 9e-03 |
| Signaling by Rho GTPases | 8 | 5.6× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein localization to synapse | 6 | 61.3× | 1e-07 |
| establishment or maintenance of epithelial cell apical/basal polarity | 7 | 54.2× | 2e-08 |
| receptor clustering | 5 | 41.6× | 1e-05 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 39.6× | 1e-06 |
| protein-containing complex assembly | 7 | 10.6× | 3e-04 |
| regulation of small GTPase mediated signal transduction | 5 | 9.6× | 4e-03 |
| cell-cell adhesion | 7 | 9.5× | 4e-04 |
| chemical synaptic transmission | 7 | 7.2× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
205 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 165 |
| Likely benign | 17 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1535 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:141212203:CT:C | donor_gain | 1.0000 |
| 8:141212219:C:A | donor_gain | 1.0000 |
| 8:141212231:T:TA | donor_gain | 1.0000 |
| 8:141212552:ATGTA:A | acceptor_gain | 1.0000 |
| 8:141212553:TGTA:T | acceptor_gain | 1.0000 |
| 8:141212554:GTA:G | acceptor_gain | 1.0000 |
| 8:141212554:GTACT:G | acceptor_loss | 1.0000 |
| 8:141212555:TA:T | acceptor_gain | 1.0000 |
| 8:141212557:C:CC | acceptor_gain | 1.0000 |
| 8:141212557:CTGCA:C | acceptor_loss | 1.0000 |
| 8:141212558:T:A | acceptor_loss | 1.0000 |
| 8:141215758:C:CG | donor_loss | 1.0000 |
| 8:141215758:CCTG:C | donor_gain | 1.0000 |
| 8:141215966:CAGGG:C | acceptor_gain | 1.0000 |
| 8:141215967:AGGG:A | acceptor_gain | 1.0000 |
| 8:141215968:GGG:G | acceptor_gain | 1.0000 |
| 8:141215971:C:CC | acceptor_gain | 1.0000 |
| 8:141219026:AGGCC:A | acceptor_loss | 1.0000 |
| 8:141219027:GGCCT:G | acceptor_loss | 1.0000 |
| 8:141219030:C:CC | acceptor_gain | 1.0000 |
| 8:141219644:CGTTA:C | donor_loss | 1.0000 |
| 8:141219645:GTTAC:G | donor_loss | 1.0000 |
| 8:141219646:TTA:T | donor_loss | 1.0000 |
| 8:141219647:TAC:T | donor_loss | 1.0000 |
| 8:141219648:ACC:A | donor_loss | 1.0000 |
| 8:141219649:C:CA | donor_loss | 1.0000 |
| 8:141219649:CCGG:C | donor_gain | 1.0000 |
| 8:141219682:T:TA | donor_gain | 1.0000 |
| 8:141219829:CCT:C | acceptor_loss | 1.0000 |
| 8:141219830:C:CG | acceptor_loss | 1.0000 |
AlphaMissense
5275 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000015547 (8:141273689 T>C,G), RS1000038814 (8:141288821 C>A,T), RS1000053235 (8:141209196 C>T), RS1000104119 (8:141214522 A>G), RS1000107027 (8:141244792 G>A), RS1000122640 (8:141291336 C>T), RS1000125195 (8:141272546 A>C), RS1000141306 (8:141244504 G>C), RS1000148172 (8:141279184 C>A), RS1000196256 (8:141226590 T>C), RS1000248750 (8:141251650 C>T), RS1000265248 (8:141286787 C>T), RS1000284652 (8:141265303 C>T), RS1000293483 (8:141296363 G>A), RS1000308503 (8:141296716 G>A,T)
Disease associations
OMIM: gene MIM:619581 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
24 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004607_170 | Plateletcrit | 3.000000e-11 |
| GCST004611_39 | High light scatter reticulocyte count | 5.000000e-10 |
| GCST004612_48 | High light scatter reticulocyte percentage of red cells | 1.000000e-10 |
| GCST004619_31 | Reticulocyte fraction of red cells | 3.000000e-09 |
| GCST004628_101 | Immature fraction of reticulocytes | 8.000000e-10 |
| GCST005146_32 | Birth weight | 2.000000e-09 |
| GCST008362_183 | Birth weight | 2.000000e-11 |
| GCST010002_313 | Refractive error | 5.000000e-10 |
| GCST011494_42 | Daytime nap | 2.000000e-09 |
| GCST012020_16 | Serum metabolite levels | 1.000000e-16 |
| GCST90002382_262 | Eosinophil percentage of white cells | 1.000000e-10 |
| GCST90002385_373 | High light scatter reticulocyte count | 3.000000e-22 |
| GCST90002385_374 | High light scatter reticulocyte count | 2.000000e-13 |
| GCST90002386_418 | High light scatter reticulocyte percentage of red cells | 1.000000e-22 |
| GCST90002386_419 | High light scatter reticulocyte percentage of red cells | 4.000000e-13 |
| GCST90002387_330 | Immature fraction of reticulocytes | 5.000000e-27 |
| GCST90002387_331 | Immature fraction of reticulocytes | 4.000000e-18 |
| GCST90002388_213 | Lymphocyte count | 4.000000e-24 |
| GCST90002398_243 | Neutrophil count | 1.000000e-11 |
| GCST90002400_454 | Plateletcrit | 6.000000e-28 |
| GCST90002405_526 | Reticulocyte count | 1.000000e-11 |
| GCST90002406_316 | Reticulocyte fraction of red cells | 4.000000e-12 |
| GCST90002407_524 | White blood cell count | 6.000000e-15 |
| GCST90011899_185 | Aspartate aminotransferase levels | 5.000000e-26 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007985 | platelet crit |
| EFO:0007986 | reticulocyte count |
| EFO:0004344 | birth weight |
| EFO:0007828 | daytime rest measurement |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004587 | lymphocyte count |
| EFO:0004833 | neutrophil count |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC45 family of putative sugar transporters
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects splicing, increases expression | 3 |
| Arsenic Trioxide | decreases expression, affects binding, decreases reaction | 2 |
| Air Pollutants | increases abundance, increases expression, affects expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| trichostatin A | affects expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| 3-iodothyronamine | affects uptake | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acetaminophen | affects expression | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4PE | HCT116-SLC45A4-KO-c10 | Cancer cell line | Male |
| CVCL_D4PF | HCT116-SLC45A4-KO-c7 | Cancer cell line | Male |
| CVCL_D4PG | HCT116-SLC45A4-KO-c8 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.