SLC35D2
geneOn this page
Also known as UGTrel8SQV7L
Summary
SLC35D2 (solute carrier family 35 member D2, HGNC:20799) is a protein-coding gene on chromosome 9q22.32, encoding Nucleotide sugar transporter SLC35D2 (Q76EJ3). Nucleotide sugar antiporter transporting UDP-N-acetylglucosamine (UDP-GlcNAc) and UDP-glucose (UDP-Glc) from the cytosol into the lumen of the Golgi in exchange of UMP. It is a selective cancer dependency (DepMap: 10.3% of cell lines).
Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).
Source: NCBI Gene 11046 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 52 total
- Cancer dependency (DepMap): dependent in 10.3% of screened cell lines
- MANE Select transcript:
NM_007001
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20799 |
| Approved symbol | SLC35D2 |
| Name | solute carrier family 35 member D2 |
| Location | 9q22.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UGTrel8, SQV7L |
| Ensembl gene | ENSG00000130958 |
| Ensembl biotype | protein_coding |
| OMIM | 609182 |
| Entrez | 11046 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 19 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000253270, ENST00000375257, ENST00000375259, ENST00000482643, ENST00000490599, ENST00000650065, ENST00000878036, ENST00000878037, ENST00000878038, ENST00000878039, ENST00000878040, ENST00000878041, ENST00000878042, ENST00000923823, ENST00000923824, ENST00000923825, ENST00000955255, ENST00000955256, ENST00000955257, ENST00000955258, ENST00000955259
RefSeq mRNA: 2 — MANE Select: NM_007001
NM_001286990, NM_007001
CCDS: CCDS6717, CCDS69625
Canonical transcript exons
ENST00000253270 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000895689 | 96321998 | 96322080 |
| ENSE00000895691 | 96336717 | 96336784 |
| ENSE00000895692 | 96343904 | 96343996 |
| ENSE00000895693 | 96345299 | 96345401 |
| ENSE00000895694 | 96351103 | 96351171 |
| ENSE00001466466 | 96320710 | 96321341 |
| ENSE00001521249 | 96383477 | 96383711 |
| ENSE00003482643 | 96368272 | 96368305 |
| ENSE00003500446 | 96364464 | 96364550 |
| ENSE00003563232 | 96324091 | 96324169 |
| ENSE00003588009 | 96352038 | 96352109 |
| ENSE00003608136 | 96360154 | 96360221 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 97.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6400 / max 68.7528, expressed in 1689 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101593 | 8.4558 | 1686 |
| 101592 | 0.1842 | 62 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 97.10 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.97 | gold quality |
| duodenum | UBERON:0002114 | 95.65 | gold quality |
| rectum | UBERON:0001052 | 95.00 | gold quality |
| endothelial cell | CL:0000115 | 94.05 | gold quality |
| body of pancreas | UBERON:0001150 | 92.98 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.94 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.88 | gold quality |
| colonic mucosa | UBERON:0000317 | 92.57 | gold quality |
| monocyte | CL:0000576 | 92.53 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.46 | gold quality |
| mononuclear cell | CL:0000842 | 92.40 | gold quality |
| transverse colon | UBERON:0001157 | 92.38 | gold quality |
| liver | UBERON:0002107 | 92.29 | gold quality |
| pancreas | UBERON:0001264 | 92.22 | gold quality |
| leukocyte | CL:0000738 | 92.19 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.05 | gold quality |
| secondary oocyte | CL:0000655 | 91.92 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.80 | gold quality |
| small intestine | UBERON:0002108 | 91.78 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 91.47 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.46 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.01 | gold quality |
| body of stomach | UBERON:0001161 | 90.92 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.89 | gold quality |
| nephron tubule | UBERON:0001231 | 90.80 | gold quality |
| right lung | UBERON:0002167 | 90.74 | gold quality |
| intestine | UBERON:0000160 | 90.70 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.69 | gold quality |
| large intestine | UBERON:0000059 | 90.31 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.83 |
| E-GEOD-111727 | no | 409.38 |
| E-CURD-10 | no | 198.57 |
| E-GEOD-124858 | no | 83.64 |
| E-CURD-89 | no | 76.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting SLC35D2, 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-4500 | 99.99 | 72.72 | 2367 |
| 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-8075 | 99.97 | 67.20 | 962 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-4735-5P | 99.43 | 68.49 | 1780 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 10.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- HFRC1 takes part in the synthesis of heparan sulfate by regulating the level of UDP-GlcNAc, a donor substrate for the heparan sulfate synthases (PMID:15082721)
- HFRC1 was overexpressed in human bronchial epithelial cells and was shown to localize in the Golgi and to enhance the surface expression of N-acetylglucosamine-rich glycans. (PMID:19276090)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc35d2 | ENSDARG00000089837 |
| mus_musculus | Slc35d2 | ENSMUSG00000033114 |
| rattus_norvegicus | Slc35d2 | ENSRNOG00000027229 |
| drosophila_melanogaster | frc | FBGN0042641 |
| caenorhabditis_elegans | WBGENE00005025 |
Paralogs (9): SLC35C2 (ENSG00000080189), SLC35E4 (ENSG00000100036), SLC35D1 (ENSG00000116704), SLC35E1 (ENSG00000127526), TMEM241 (ENSG00000134490), SLC35E3 (ENSG00000175782), SLC35C1 (ENSG00000181830), SLC35D3 (ENSG00000182747), SLC35E2B (ENSG00000189339)
Protein
Protein identifiers
Nucleotide sugar transporter SLC35D2 — Q76EJ3 (reviewed: Q76EJ3)
Alternative names: Homolog of Fringe connection protein 1, SQV7-like protein, Solute carrier family 35 member D2, UDP-galactose transporter-related protein 8
All UniProt accessions (4): Q76EJ3, A0A3B3ITR5, A0A3B3IU97, Q5VZJ2
UniProt curated annotations — full annotation on UniProt →
Function. Nucleotide sugar antiporter transporting UDP-N-acetylglucosamine (UDP-GlcNAc) and UDP-glucose (UDP-Glc) from the cytosol into the lumen of the Golgi in exchange of UMP. By supplying UDP-N-acetylglucosamine, a donor substrate to heparan sulfate synthases, probably takes part in the synthesis of these glycoconjugates.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Highly expressed in heart, kidney, small intestine, placenta, lung and peripheral blood leukocyte. Weakly expressed in skeletal muscle and spleen. Not expressed in brain, colon and thymus.
Similarity. Belongs to the TPT transporter family. SLC35D subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q76EJ3-1 | 1 | yes |
| Q76EJ3-2 | 2 |
RefSeq proteins (2): NP_001273919, NP_008932* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004853 | Sugar_P_trans_dom | Domain |
| IPR050186 | TPT_transporter | Family |
Pfam: PF03151
Catalyzed reactions (Rhea), 2 shown:
- UMP(out) + UDP-N-acetyl-alpha-D-glucosamine(in) = UMP(in) + UDP-N-acetyl-alpha-D-glucosamine(out) (RHEA:72695)
- UMP(out) + UDP-alpha-D-glucose(in) = UMP(in) + UDP-alpha-D-glucose(out) (RHEA:72731)
UniProt features (19 total): topological domain 8, transmembrane region 8, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q76EJ3-F1 | 85.58 | 0.63 |
Function
Pathways and Gene Ontology
Reactome pathways
15 pathways
| ID | Pathway |
|---|---|
| R-HSA-173599 | Formation of the active cofactor, UDP-glucuronate |
| R-HSA-2022854 | Keratan sulfate biosynthesis |
| R-HSA-2022928 | HS-GAG biosynthesis |
| R-HSA-727802 | Transport of nucleotide sugars |
| R-HSA-1430728 | Metabolism |
| R-HSA-156580 | Phase II - Conjugation of compounds |
| R-HSA-156588 | Glucuronidation |
| R-HSA-1630316 | Glycosaminoglycan metabolism |
| R-HSA-1638074 | Keratan sulfate/keratin metabolism |
| R-HSA-1638091 | Heparan sulfate/heparin (HS-GAG) metabolism |
| R-HSA-211859 | Biological oxidations |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425397 | Transport of vitamins, nucleosides, and related molecules |
| R-HSA-425407 | SLC-mediated transmembrane transport |
| R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives |
MSigDB gene sets: 182 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD8A_DC_DN, REACTOME_BIOLOGICAL_OXIDATIONS, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOMF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT
GO Biological Process (6): heparan sulfate proteoglycan biosynthetic process (GO:0015012), nucleotide-sugar transmembrane transport (GO:0015780), UDP-glucuronate transmembrane transport (GO:0015787), UDP-N-acetylgalactosamine transmembrane transport (GO:0015789), keratan sulfate proteoglycan biosynthetic process (GO:0018146), UDP-N-acetylglucosamine transmembrane transport (GO:1990569)
GO Molecular Function (5): nucleotide-sugar transmembrane transporter activity (GO:0005338), UDP-glucuronate transmembrane transporter activity (GO:0005461), UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462), UDP-N-acetylgalactosamine transmembrane transporter activity (GO:0005463), antiporter activity (GO:0015297)
GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Glycosaminoglycan metabolism | 2 |
| Metabolism | 2 |
| Glucuronidation | 1 |
| Keratan sulfate/keratin metabolism | 1 |
| Heparan sulfate/heparin (HS-GAG) metabolism | 1 |
| Transport of vitamins, nucleosides, and related molecules | 1 |
| Biological oxidations | 1 |
| Phase II - Conjugation of compounds | 1 |
| Metabolism of carbohydrates and carbohydrate derivatives | 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 | 3 |
| pyrimidine nucleotide-sugar transmembrane transporter activity | 3 |
| proteoglycan biosynthetic process | 2 |
| heparan sulfate proteoglycan metabolic process | 1 |
| protein O-linked glycosylation via xylose | 1 |
| organophosphate ester transport | 1 |
| nucleobase-containing compound transport | 1 |
| transmembrane transport | 1 |
| carbohydrate derivative transport | 1 |
| carboxylic acid transmembrane transport | 1 |
| keratan sulfate proteoglycan metabolic process | 1 |
| organophosphate ester transmembrane transporter activity | 1 |
| nucleobase-containing compound transmembrane transporter activity | 1 |
| carbohydrate derivative transmembrane transporter activity | 1 |
| UDP-glucuronate transmembrane transport | 1 |
| carboxylic acid transmembrane transporter activity | 1 |
| UDP-N-acetylglucosamine transmembrane transport | 1 |
| UDP-N-acetylgalactosamine transmembrane transport | 1 |
| secondary active transmembrane transporter activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
580 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC35D2 | SLC35A3 | Q9Y2D2 | 958 |
| SLC35D2 | SLC35A1 | P78382 | 929 |
| SLC35D2 | SLC35B4 | Q969S0 | 918 |
| SLC35D2 | SLC35B2 | Q8TB61 | 828 |
| SLC35D2 | MAN2A2 | P49641 | 824 |
| SLC35D2 | SLC35B3 | Q9H1N7 | 813 |
| SLC35D2 | SLC35B1 | P78383 | 770 |
| SLC35D2 | MAN2A1 | Q16706 | 767 |
| SLC35D2 | ADGRL1 | O94910 | 689 |
| SLC35D2 | B4GALT1 | P15291 | 688 |
| SLC35D2 | SULT4A1 | Q9BR01 | 681 |
| SLC35D2 | SLC35A2 | P78381 | 661 |
| SLC35D2 | SLC35H1 | Q9NQQ7 | 587 |
| SLC35D2 | SLC35A5 | Q9BS91 | 576 |
| SLC35D2 | SLC35C1 | Q96A29 | 520 |
| SLC35D2 | SLC35A4 | Q96G79 | 520 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NS3 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35A4 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35D2 | TM9SF1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (25): SLC35D2 (Affinity Capture-RNA), SLC35D2 (Affinity Capture-MS), ALG1 (Affinity Capture-MS), ASPH (Affinity Capture-MS), CAV1 (Affinity Capture-MS), ENDOD1 (Affinity Capture-MS), MARCH5 (Affinity Capture-MS), MICB (Affinity Capture-MS), MMS19 (Affinity Capture-MS), COX2 (Affinity Capture-MS), NPEPPS (Affinity Capture-MS), OTULIN (Affinity Capture-MS), RAB39A (Affinity Capture-MS), ROR1 (Affinity Capture-MS), ROR2 (Affinity Capture-MS)
ESM2 similar proteins: A2AKQ0, A2VE55, A5GFZ5, B8B7Q4, F4JN00, O14494, O42602, O60762, O70152, O75352, O88956, P0CK96, P60588, Q15B89, Q1JQ93, Q28HF8, Q2M3R5, Q3ZCD7, Q4L208, Q4R8V4, Q52KD1, Q5PT50, Q5PT53, Q5RDC9, Q5XF09, Q5ZJ75, Q5ZJH8, Q64232, Q6DBP3, Q6DHK8, Q6NMB6, Q6ZL17, Q762D5, Q76EJ3, Q7T0V6, Q8C811, Q8GUJ1, Q8IVW8, Q8R4D1, Q8RXL8
Diamond homologs: A2AKQ0, A2VE55, A8MRY9, Q15B89, Q18779, Q54YK1, Q5RDC9, Q762D5, Q76EJ3, Q95YI5, Q9NTN3, Q94B65
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2157 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:96324086:CTCA:C | donor_loss | 1.0000 |
| 9:96324087:TCAC:T | donor_loss | 1.0000 |
| 9:96324088:CACCT:C | donor_loss | 1.0000 |
| 9:96343898:GCTCA:G | donor_loss | 1.0000 |
| 9:96343899:CTCA:C | donor_loss | 1.0000 |
| 9:96343900:TCACC:T | donor_loss | 1.0000 |
| 9:96343901:CACCT:C | donor_loss | 1.0000 |
| 9:96343902:ACC:A | donor_loss | 1.0000 |
| 9:96343903:C:CT | donor_loss | 1.0000 |
| 9:96351102:CCCAG:C | donor_gain | 1.0000 |
| 9:96364458:ACTT:A | donor_loss | 1.0000 |
| 9:96364459:CTT:C | donor_loss | 1.0000 |
| 9:96364460:TTA:T | donor_loss | 1.0000 |
| 9:96364461:TAC:T | donor_loss | 1.0000 |
| 9:96364462:A:AT | donor_loss | 1.0000 |
| 9:96364463:C:A | donor_loss | 1.0000 |
| 9:96364550:TCT:T | acceptor_loss | 1.0000 |
| 9:96364551:C:CC | acceptor_gain | 1.0000 |
| 9:96364551:C:CG | acceptor_loss | 1.0000 |
| 9:96364552:T:G | acceptor_loss | 1.0000 |
| 9:96368306:C:CC | acceptor_gain | 1.0000 |
| 9:96383471:CCTCA:C | donor_loss | 1.0000 |
| 9:96383472:CTCAC:C | donor_loss | 1.0000 |
| 9:96383473:TCA:T | donor_loss | 1.0000 |
| 9:96383474:CA:C | donor_loss | 1.0000 |
| 9:96383475:AC:A | donor_gain | 1.0000 |
| 9:96383476:C:G | donor_loss | 1.0000 |
| 9:96383476:CC:C | donor_gain | 1.0000 |
| 9:96322077:CATT:C | acceptor_gain | 0.9900 |
| 9:96324166:AAAC:A | acceptor_loss | 0.9900 |
AlphaMissense
2181 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:96352085:C:A | R124S | 0.995 |
| 9:96352085:C:G | R124S | 0.995 |
| 9:96324091:C:A | K277N | 0.994 |
| 9:96324091:C:G | K277N | 0.994 |
| 9:96324139:G:C | C261W | 0.994 |
| 9:96352086:C:G | R124T | 0.994 |
| 9:96360168:G:C | S111R | 0.994 |
| 9:96360168:G:T | S111R | 0.994 |
| 9:96360170:T:G | S111R | 0.994 |
| 9:96324141:A:G | C261R | 0.993 |
| 9:96351122:C:G | G157R | 0.993 |
| 9:96351122:C:T | G157R | 0.993 |
| 9:96351141:A:C | S150R | 0.993 |
| 9:96351141:A:T | S150R | 0.993 |
| 9:96351143:T:G | S150R | 0.993 |
| 9:96351121:C:T | G157E | 0.992 |
| 9:96345339:G:T | A184E | 0.991 |
| 9:96345340:C:G | A184P | 0.991 |
| 9:96322010:C:T | G301E | 0.990 |
| 9:96322011:C:G | G301R | 0.990 |
| 9:96322011:C:T | G301R | 0.990 |
| 9:96324127:A:C | N265K | 0.990 |
| 9:96324127:A:T | N265K | 0.990 |
| 9:96352086:C:A | R124M | 0.990 |
| 9:96336718:C:G | G251R | 0.989 |
| 9:96336718:C:T | G251R | 0.989 |
| 9:96345337:C:G | A185P | 0.989 |
| 9:96351122:C:A | G157W | 0.989 |
| 9:96345376:C:G | G172R | 0.988 |
| 9:96368302:G:C | F54L | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000045802 (9:96315437 T>C,G), RS1000159661 (9:96318708 G>A), RS1000175627 (9:96331412 A>C,G), RS1000195011 (9:96358801 C>A), RS1000264375 (9:96365396 C>T), RS1000302090 (9:96374763 G>A,T), RS1000358259 (9:96372493 A>C), RS1000368162 (9:96372297 A>G), RS1000387581 (9:96353415 G>A), RS1000422276 (9:96371996 G>A,T), RS1000432149 (9:96381366 C>T), RS1000449636 (9:96352659 T>G), RS1000533851 (9:96357536 T>A,C), RS1000547991 (9:96349854 A>G), RS1000548848 (9:96363873 C>T)
Disease associations
OMIM: gene MIM:609182 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001734_13 | Non-small cell lung cancer | 9.000000e-06 |
| GCST004067_121 | Hip circumference adjusted for BMI | 2.000000e-08 |
| GCST004067_53 | Hip circumference adjusted for BMI | 5.000000e-09 |
| GCST004599_74 | Mean platelet volume | 3.000000e-13 |
| GCST005991_96 | Platelet count | 4.000000e-12 |
| GCST008163_364 | Height | 2.000000e-09 |
| GCST009391_38 | Metabolite levels | 7.000000e-06 |
| GCST012227_437 | Hip circumference adjusted for BMI | 3.000000e-12 |
| GCST012227_438 | Hip circumference adjusted for BMI | 9.000000e-10 |
| GCST012227_439 | Hip circumference adjusted for BMI | 4.000000e-08 |
| GCST90002390_392 | Mean corpuscular hemoglobin | 2.000000e-11 |
| GCST90002391_244 | Mean corpuscular hemoglobin concentration | 1.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004309 | platelet count |
| EFO:0010116 | choline measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
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
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| Tobacco Smoke Pollution | decreases reaction, increases expression, increases reaction, affects expression | 2 |
| Cyclosporine | increases expression, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| cinnamaldehyde | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| vanillin | decreases expression | 1 |
| 3-iodothyronamine | affects uptake | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | affects cotreatment, increases methylation | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acetylcysteine | decreases reaction, increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | increases expression, increases response to substance | 1 |
| Carbamazepine | affects expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Lead | increases expression | 1 |
| Vanadates | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4TA | HuH7-SLC35D2-KO-c3 | Cancer cell line | Male |
| CVCL_D4TB | HuH7-SLC35D2-KO-c4 | Cancer cell line | Male |
| CVCL_TN18 | HAP1 SLC35D2 (-) 1 | Cancer cell line | Male |
| CVCL_XT23 | HAP1 SLC35D2 (-) 2 | 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): non-small cell lung carcinoma