SLC35B4
gene geneOn this page
Also known as FLJ14697YEA4
Summary
SLC35B4 (solute carrier family 35 member B4, HGNC:20584) is a protein-coding gene on chromosome 7q33, encoding Nucleotide sugar transporter SLC35B4 (Q969S0). Antiporter that transports nucleotide sugars across the endoplasmic reticulum (ER) membrane in exchange for another nucleotide sugar.
Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).
Source: NCBI Gene 84912 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 55 total
- MANE Select transcript:
NM_032826
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20584 |
| Approved symbol | SLC35B4 |
| Name | solute carrier family 35 member B4 |
| Location | 7q33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14697, YEA4 |
| Ensembl gene | ENSG00000205060 |
| Ensembl biotype | protein_coding |
| OMIM | 610923 |
| Entrez | 84912 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000378509, ENST00000416907, ENST00000466599, ENST00000470969, ENST00000966638, ENST00000966639, ENST00000966640, ENST00000966641, ENST00000966642
RefSeq mRNA: 1 — MANE Select: NM_032826
NM_032826
CCDS: CCDS34756
Canonical transcript exons
ENST00000378509 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001477777 | 134289332 | 134295079 |
| ENSE00001862876 | 134316675 | 134316930 |
| ENSE00003516566 | 134306672 | 134306774 |
| ENSE00003571149 | 134300152 | 134300261 |
| ENSE00003579802 | 134301761 | 134301821 |
| ENSE00003589580 | 134309366 | 134309479 |
| ENSE00003616199 | 134304805 | 134304854 |
| ENSE00003650607 | 134296391 | 134296466 |
| ENSE00003654313 | 134302029 | 134302110 |
| ENSE00003669927 | 134299523 | 134299598 |
Expression profiles
Bgee: expression breadth ubiquitous, 240 present calls, max score 91.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.4660 / max 106.0427, expressed in 1784 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 86311 | 8.8247 | 1760 |
| 86310 | 4.6414 | 1472 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar vermis | UBERON:0004720 | 91.12 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.07 | gold quality |
| kidney epithelium | UBERON:0004819 | 90.88 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 89.37 | gold quality |
| endothelial cell | CL:0000115 | 88.77 | gold quality |
| placenta | UBERON:0001987 | 88.58 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 87.43 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.72 | gold quality |
| tibia | UBERON:0000979 | 86.43 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 85.89 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 85.76 | gold quality |
| postcentral gyrus | UBERON:0002581 | 85.72 | gold quality |
| parietal lobe | UBERON:0001872 | 85.61 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.43 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.84 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 84.72 | gold quality |
| occipital lobe | UBERON:0002021 | 84.63 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.49 | gold quality |
| entorhinal cortex | UBERON:0002728 | 84.44 | gold quality |
| cerebellum | UBERON:0002037 | 84.29 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.95 | gold quality |
| cerebellar cortex | UBERON:0002129 | 83.80 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 83.61 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.35 | gold quality |
| visceral pleura | UBERON:0002401 | 83.13 | gold quality |
| liver | UBERON:0002107 | 83.10 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 83.04 | gold quality |
| kidney | UBERON:0002113 | 82.97 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.87 | gold quality |
| metanephros | UBERON:0000081 | 82.61 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.98 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
159 targeting SLC35B4, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
Literature-anchored findings (GeneRIF, showing 7)
- Transport capabilities for UDP-Glc and UDP-Xyl were determined with Golgi vesicles isolated from transformed cells (PMID:15911612)
- Decreased SLC35B4 expression led to increased gluconeogenesis in HepG2 cells. (PMID:21507882)
- subcellular localization of SLC35B4 (PMID:21918738)
- SLC35B4 single nucleotide polymorphism rs1646724 was associated with recurrence in patients with localized disease and survival in patients with advanced prostate cancer. (PMID:29682886)
- Glucose levels activate SLC35B4 expression. This triggers a downstream effect via Hsp60 and other proteins. We hypothesize that the downstream effect on the proteins is mediated via altering the glycosylation pattern inside liver cells (PMID:29867058)
- Our data showed that knock-out of the SLC35B4 gene does not affect major UDP-Xyl- and UDP-GlcNAc-dependent glycosylation pathways. (PMID:30458018)
- A novel YAP1/SLC35B4 axis promotes gastric cancer (GC) development and progression, and this axis could be a potential candidate for prognosis and therapeutics in GC. (PMID:31175271)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc35b4 | ENSDARG00000071087 |
| mus_musculus | Slc35b4 | ENSMUSG00000018999 |
| rattus_norvegicus | Slc35b4 | ENSRNOG00000008851 |
| drosophila_melanogaster | Efr | FBGN0029849 |
| drosophila_melanogaster | CG14511 | FBGN0039641 |
| caenorhabditis_elegans | WBGENE00017480 |
Paralogs (3): SLC35B1 (ENSG00000121073), SLC35B3 (ENSG00000124786), SLC35B2 (ENSG00000157593)
Protein
Protein identifiers
Nucleotide sugar transporter SLC35B4 — Q969S0 (reviewed: Q969S0)
Alternative names: Solute carrier family 35 member B4, UDP-xylose and UDP-N-acetylglucosamine transporter, YEA4 homolog
All UniProt accessions (2): Q969S0, F8WAW0
UniProt curated annotations — full annotation on UniProt →
Function. Antiporter that transports nucleotide sugars across the endoplasmic reticulum (ER) membrane in exchange for another nucleotide sugar. May couple UDP-alpha-D-glucuronate (UDP-GlcA) or UDP-alpha-D-xylose (UDP-Xyl) efflux to UDP-alpha-D-glucuronate (UDP-GlcA) influx into the ER lumen, which in turn stimulates glucuronidation and excretion of endobiotics and xenobiotics. Has UDP-GlcA:UDP-GlcNAc antiporter activity. Has UDP-GlcA:UDP-GlcNAc antiporter activity.
Subcellular location. Endoplasmic reticulum membrane.
Similarity. Belongs to the nucleotide-sugar transporter family. SLC35B subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q969S0-1 | 1 | yes |
| Q969S0-2 | 2 | |
| Q969S0-3 | 3 |
RefSeq proteins (1): NP_116215* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013657 | HUT1 | Family |
Pfam: PF08449
Catalyzed reactions (Rhea), 2 shown:
- UDP-N-acetyl-alpha-D-glucosamine(in) + UDP-alpha-D-glucuronate(out) = UDP-N-acetyl-alpha-D-glucosamine(out) + UDP-alpha-D-glucuronate(in) (RHEA:73703)
- UDP-alpha-D-xylose(in) + UDP-alpha-D-glucuronate(out) = UDP-alpha-D-xylose(out) + UDP-alpha-D-glucuronate(in) (RHEA:74831)
UniProt features (23 total): transmembrane region 11, splice variant 4, sequence conflict 4, mutagenesis site 2, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969S0-F1 | 86.73 | 0.64 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 329 | results in loss of er retention signal and relocalization at the golgi apparatus. |
| 330 | results in loss of er retention signal and relocalization at the golgi apparatus. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-727802 | Transport of nucleotide sugars |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425397 | Transport of vitamins, nucleosides, and related molecules |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 134 (showing top):
MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_MONOSACCHARIDE_BIOSYNTHETIC_PROCESS, GOMF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS, GOBP_GLUCOSE_METABOLIC_PROCESS, GOBP_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS, BIDUS_METASTASIS_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN
GO Biological Process (4): regulation of gluconeogenesis (GO:0006111), UDP-xylose transmembrane transport (GO:0015790), UDP-N-acetylglucosamine transmembrane transport (GO:1990569), transmembrane transport (GO:0055085)
GO Molecular Function (3): UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462), UDP-xylose transmembrane transporter activity (GO:0005464), protein binding (GO:0005515)
GO Cellular Component (6): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), endomembrane system (GO:0012505), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Transport of vitamins, nucleosides, and related molecules | 1 |
| SLC-mediated transmembrane transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| pyrimidine nucleotide-sugar transmembrane transport | 2 |
| pyrimidine nucleotide-sugar transmembrane transporter activity | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| gluconeogenesis | 1 |
| regulation of glucose metabolic process | 1 |
| regulation of carbohydrate biosynthetic process | 1 |
| transport | 1 |
| cellular process | 1 |
| UDP-N-acetylglucosamine transmembrane transport | 1 |
| UDP-xylose transmembrane transport | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
842 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC35B4 | SLC35A3 | Q9Y2D2 | 920 |
| SLC35B4 | SLC35D2 | Q76EJ3 | 918 |
| SLC35B4 | SLC35D1 | Q9NTN3 | 894 |
| SLC35B4 | SLC35D3 | Q5M8T2 | 883 |
| SLC35B4 | SLC35H1 | Q9NQQ7 | 715 |
| SLC35B4 | SLC35A5 | Q9BS91 | 673 |
| SLC35B4 | SLC35C1 | Q96A29 | 649 |
| SLC35B4 | SLC35E1 | Q96K37 | 607 |
| SLC35B4 | SLC35A1 | P78382 | 566 |
| SLC35B4 | SLC35A4 | Q96G79 | 554 |
| SLC35B4 | SLC35F1 | Q5T1Q4 | 528 |
| SLC35B4 | SLC35F6 | Q8N357 | 491 |
| SLC35B4 | SLC35B2 | Q8TB61 | 474 |
| SLC35B4 | CHID1 | Q9BWS9 | 453 |
| SLC35B4 | COASY | Q13057 | 443 |
IntAct
103 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CREB3L1 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SLC35B4 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SLC35B4 | FFAR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B4 | PDZK1IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B4 | PVR | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B4 | FAM210B | psi-mi:“MI:0915”(physical association) | 0.560 |
| KASH5 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B4 | TMEM237 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARA5 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B4 | RHBDL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHFPL5 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TYROBP | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STOM | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CISD2 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN5 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERP29 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBXA2R | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B4 | VSIR | psi-mi:“MI:0915”(physical association) | 0.560 |
| EBAG9 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B4 | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MUC1 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FFAR2 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDZK1IP1 | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PVR | SLC35B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (143): CREB3L1 (Two-hybrid), SLC35B4 (Affinity Capture-RNA), SLC35B4 (Proximity Label-MS), SLC35B4 (Two-hybrid), SLC35B4 (Synthetic Lethality), SLC35B4 (Two-hybrid), SLC35B4 (Two-hybrid), SLC35B4 (Two-hybrid), SLC35B4 (Two-hybrid), SLC35B4 (Two-hybrid), SLC35B4 (Two-hybrid), SLC35B4 (Two-hybrid), SLC35B4 (Two-hybrid), SLC35B4 (Two-hybrid), SLC35B4 (Two-hybrid)
ESM2 similar proteins: A1C9R4, A1CZJ3, A1DA52, A2R9P4, A3LWX1, A4RM13, A5DIN8, A6RJQ8, A6ZTW6, A7E558, A7TES5, A7TR80, A8N9T6, B0DI84, B0Y384, B3LHR7, B3LS51, B5VHH5, C7GSI5, C7GUZ7, C8Z742, C8Z830, P0CE11, P0CS02, P0CS03, P0CS04, P0CS05, P40107, Q0CA27, Q0UG89, Q1DTI4, Q2AAF6, Q2HA88, Q2UTL1, Q4WTQ6, Q5A477, Q5AQY2, Q5AS82, Q5R8M3, Q6C0U0
Diamond homologs: O74750, P40004, Q00974, Q5R8M3, Q7ZW46, Q869W7, Q8CIA5, Q95KB4, Q969S0, Q9W429
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1558 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:134296333:T:A | donor_gain | 1.0000 |
| 7:134299522:CCAGA:C | donor_gain | 1.0000 |
| 7:134299595:CGTG:C | acceptor_gain | 1.0000 |
| 7:134299599:C:CC | acceptor_gain | 1.0000 |
| 7:134300150:A:AC | donor_gain | 1.0000 |
| 7:134300151:C:CC | donor_gain | 1.0000 |
| 7:134300168:T:TA | donor_gain | 1.0000 |
| 7:134306670:A:AC | donor_gain | 1.0000 |
| 7:134306671:C:CC | donor_gain | 1.0000 |
| 7:134306671:CG:C | donor_gain | 1.0000 |
| 7:134306671:CGG:C | donor_gain | 1.0000 |
| 7:134306671:CGGA:C | donor_gain | 1.0000 |
| 7:134306671:CGGAT:C | donor_gain | 1.0000 |
| 7:134306770:AGTAC:A | acceptor_gain | 1.0000 |
| 7:134306771:GTAC:G | acceptor_gain | 1.0000 |
| 7:134306772:TAC:T | acceptor_gain | 1.0000 |
| 7:134306775:C:CC | acceptor_gain | 1.0000 |
| 7:134306775:C:CG | acceptor_loss | 1.0000 |
| 7:134306776:T:C | acceptor_loss | 1.0000 |
| 7:134309360:CCATA:C | donor_loss | 1.0000 |
| 7:134309361:CATAC:C | donor_loss | 1.0000 |
| 7:134309363:TA:T | donor_loss | 1.0000 |
| 7:134309364:ACCTT:A | donor_loss | 1.0000 |
| 7:134309365:C:A | donor_loss | 1.0000 |
| 7:134310351:T:TA | donor_gain | 1.0000 |
| 7:134310354:T:TA | donor_gain | 1.0000 |
| 7:134299597:TG:T | acceptor_gain | 0.9900 |
| 7:134299601:A:C | acceptor_gain | 0.9900 |
| 7:134300146:GCTT:G | donor_loss | 0.9900 |
| 7:134300147:CTTAC:C | donor_loss | 0.9900 |
AlphaMissense
2187 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:134294989:G:C | S280R | 1.000 |
| 7:134294989:G:T | S280R | 1.000 |
| 7:134294991:T:G | S280R | 1.000 |
| 7:134294987:A:G | L281P | 0.999 |
| 7:134295003:G:T | R276S | 0.999 |
| 7:134295070:G:C | C253W | 0.999 |
| 7:134295071:C:T | C253Y | 0.999 |
| 7:134302067:C:G | G130R | 0.999 |
| 7:134302067:C:T | G130R | 0.999 |
| 7:134306735:G:C | S77R | 0.999 |
| 7:134306735:G:T | S77R | 0.999 |
| 7:134306737:T:G | S77R | 0.999 |
| 7:134309437:A:C | F40L | 0.999 |
| 7:134309437:A:T | F40L | 0.999 |
| 7:134309439:A:G | F40L | 0.999 |
| 7:134294912:C:T | G306E | 0.998 |
| 7:134294913:C:G | G306R | 0.998 |
| 7:134294913:C:T | G306R | 0.998 |
| 7:134294934:C:G | G299R | 0.998 |
| 7:134295002:C:G | R276P | 0.998 |
| 7:134295005:A:G | L275P | 0.998 |
| 7:134295050:A:G | L260P | 0.998 |
| 7:134295055:A:C | F258L | 0.998 |
| 7:134295055:A:T | F258L | 0.998 |
| 7:134295057:A:G | F258L | 0.998 |
| 7:134295072:A:G | C253R | 0.998 |
| 7:134296402:G:C | N246K | 0.998 |
| 7:134296402:G:T | N246K | 0.998 |
| 7:134302063:A:T | I131K | 0.998 |
| 7:134302066:C:T | G130E | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000055467 (7:134314811 G>C), RS1000061829 (7:134308754 C>T), RS1000411109 (7:134318157 T>A), RS1000559329 (7:134319401 T>A,C), RS1000571595 (7:134300961 G>A,C), RS1000664086 (7:134292901 C>G), RS1000672389 (7:134307022 C>T), RS1000714120 (7:134311809 T>A,C), RS1000740359 (7:134305405 T>C), RS1001129295 (7:134318696 C>T), RS1001265041 (7:134318950 T>C,G), RS1001273880 (7:134296709 G>T), RS1001388207 (7:134310905 G>A), RS1001470865 (7:134317207 A>G), RS1001585082 (7:134317770 G>C)
Disease associations
OMIM: gene MIM:610923 | 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 |
|---|---|---|
| GCST004599_59 | Mean platelet volume | 4.000000e-20 |
| GCST009645_2 | Systolic blood pressure response to thiazide and thiazide-like diuretics in hypertension | 5.000000e-08 |
| GCST90002395_702 | Mean platelet volume | 4.000000e-36 |
| GCST90002400_55 | Plateletcrit | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006944 | systolic blood pressure change measurement |
| EFO:0007985 | platelet crit |
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 — SLC35 family of nucleotide sugar transporters
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 4 |
| Cyclosporine | decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| methylparaben | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Environmental Pollutants | affects expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Zidovudine | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4M3 | HCT116-SLC35B4-KO-c10 | Cancer cell line | Male |
| CVCL_D4M4 | HCT116-SLC35B4-KO-c7 | Cancer cell line | Male |
| CVCL_TN12 | HAP1 SLC35B4 (-) 1 | Cancer cell line | Male |
| CVCL_TN13 | HAP1 SLC35B4 (-) 2 | 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.