B3GNT7
gene geneOn this page
Also known as beta3GnT7
Summary
B3GNT7 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7, HGNC:18811) is a protein-coding gene on chromosome 2q37.1, encoding UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (Q8NFL0). N-acetyl glucosamine (GlcNAc) transferase that catalyzes the transfer of GlcNAc via a beta1->3 linkage from UDP-GlcNAc to the non-reducing terminal galactose (Gal) in the linearly growing chain of N- and O-linked keratan sulfate proteoglycans.
Enables acetylglucosaminyltransferase activity. Involved in keratan sulfate proteoglycan biosynthetic process. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane.
Source: NCBI Gene 93010 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 58 total
- MANE Select transcript:
NM_145236
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18811 |
| Approved symbol | B3GNT7 |
| Name | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 |
| Location | 2q37.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | beta3GnT7 |
| Ensembl gene | ENSG00000156966 |
| Ensembl biotype | protein_coding |
| OMIM | 615313 |
| Entrez | 93010 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000287590, ENST00000479618, ENST00000714191, ENST00000714192
RefSeq mRNA: 1 — MANE Select: NM_145236
NM_145236
CCDS: CCDS46540
Canonical transcript exons
ENST00000287590 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001029366 | 231397731 | 231401164 |
| ENSE00001750133 | 231395710 | 231395814 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 97.64.
FANTOM5 (CAGE): breadth broad, TPM avg 5.6043 / max 251.5725, expressed in 665 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 25893 | 3.5330 | 595 |
| 25895 | 1.5219 | 431 |
| 25892 | 0.2890 | 123 |
| 25894 | 0.1465 | 74 |
| 25891 | 0.1139 | 70 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nasal cavity epithelium | UBERON:0005384 | 97.64 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 95.85 | gold quality |
| rectum | UBERON:0001052 | 95.00 | gold quality |
| colonic mucosa | UBERON:0000317 | 92.86 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 90.79 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 90.15 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.02 | gold quality |
| bronchial epithelial cell | CL:0002328 | 88.90 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 88.45 | gold quality |
| bronchus | UBERON:0002185 | 88.23 | gold quality |
| duodenum | UBERON:0002114 | 87.72 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 87.45 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.14 | gold quality |
| transverse colon | UBERON:0001157 | 84.98 | gold quality |
| gall bladder | UBERON:0002110 | 84.73 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 83.70 | gold quality |
| parotid gland | UBERON:0001831 | 83.07 | gold quality |
| decidua | UBERON:0002450 | 82.90 | gold quality |
| myocardium | UBERON:0002349 | 82.81 | gold quality |
| small intestine | UBERON:0002108 | 82.61 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 82.58 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 82.56 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 82.27 | gold quality |
| upper lobe of lung | UBERON:0008948 | 82.26 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 82.05 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.73 | gold quality |
| body of stomach | UBERON:0001161 | 81.70 | gold quality |
| left ovary | UBERON:0002119 | 81.68 | gold quality |
| jejunal mucosa | UBERON:0000399 | 81.64 | gold quality |
| left adrenal gland | UBERON:0001234 | 81.64 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 1961.74 |
| E-MTAB-6701 | yes | 93.79 |
| E-GEOD-84465 | yes | 22.81 |
| E-MTAB-5061 | yes | 19.11 |
| E-GEOD-125970 | yes | 17.45 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
109 targeting B3GNT7, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| 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-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
Literature-anchored findings (GeneRIF, showing 4)
- sulfated keratan sulfate is produced by beta3GNT7, beta4GalT4, CGn6ST, and KSG6ST (PMID:17690104)
- The nude mice xenograft model demonstrated that ectopic expression of the B3GNT7 gene in colon cancer cells diminished the migration capability and the liver-metastasis potential, respectively, of colon cancer cells. (PMID:24418929)
- Interleukin-22 regulates B3GNT7 expression to induce fucosylation of glycoproteins in intestinal epithelial cells. (PMID:34864058)
- Identification of glycogene-based prognostic signature and validation of B3GNT7 as a potential biomarker and therapeutic target in breast cancer. (PMID:37740763)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | b3gnt7 | ENSDARG00000038489 |
| mus_musculus | B3gnt7 | ENSMUSG00000079445 |
| rattus_norvegicus | B3gnt7 | ENSRNOG00000018267 |
| drosophila_melanogaster | brn | FBGN0000221 |
| caenorhabditis_elegans | WBGENE00000270 | |
| caenorhabditis_elegans | WBGENE00007096 | |
| caenorhabditis_elegans | WBGENE00017653 |
Paralogs (15): B3GALT2 (ENSG00000162630), B3GALNT2 (ENSG00000162885), B3GALNT1 (ENSG00000169255), B3GNT2 (ENSG00000170340), B3GALT1 (ENSG00000172318), B3GALT6 (ENSG00000176022), B3GNT4 (ENSG00000176383), B3GNT5 (ENSG00000176597), B3GNT8 (ENSG00000177191), B3GNT3 (ENSG00000179913), B3GALT5 (ENSG00000183778), B3GNT6 (ENSG00000198488), B3GALT9 (ENSG00000214654), B3GALT4 (ENSG00000235863), B3GNT9 (ENSG00000237172)
Protein
Protein identifiers
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 — Q8NFL0 (reviewed: Q8NFL0)
All UniProt accessions (2): Q8NFL0, A0AAQ5BHP6
UniProt curated annotations — full annotation on UniProt →
Function. N-acetyl glucosamine (GlcNAc) transferase that catalyzes the transfer of GlcNAc via a beta1->3 linkage from UDP-GlcNAc to the non-reducing terminal galactose (Gal) in the linearly growing chain of N- and O-linked keratan sulfate proteoglycans. Cooperates with B4GALT4 galactosyltransferase and CHST6 and CHST1 sulfotransferases to construct and elongate mono- and disulfated disaccharide units [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] and [->3(6-sulfoGalbeta)1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved in biosynthesis of N-linked keratan sulfate proteoglycans in cornea, with an impact on proteoglycan fibril organization and corneal transparency. May play a role in the maintenance of tissue architecture by suppressing cellular motility and invasion.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed in corneal epithelial cells.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 31 family.
RefSeq proteins (1): NP_660279* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002659 | Glyco_trans_31 | Family |
Pfam: PF01762
Enzyme classification (BRENDA):
- EC 2.4.1.149 — N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase (BRENDA: 6 organisms, 107 substrates, 59 inhibitors, 27 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| UDP-N-ACETYL-D-GLUCOSAMINE | 0.129–15.97 | 11 |
| N-ACETYLLACTOSAMINE | 2.2–19.6 | 4 |
| LACTOSE | 5.2–29.8 | 3 |
| GALBETA(1-4)GLCNACBETA(1-4)GLCNAC-2-AMINOPYRIDIN | 0.44–0.9 | 2 |
| ASIALO-ALPHA1-ACID GLYCOPROTEIN | 0.6 | 1 |
| GALBETA(1->4)GLCNACBETA(1->3)GALBETA(1->4)GLCNAC | 1 | 1 |
| GALBETA1,4(SO3-,6)-GLCNACBETA1,3-GALBETA1,4(SO3- | 0.36 | 1 |
| LACTONEOTETRAOSYLCERAMIDE | 0.19 | 1 |
| LACTONORHEXAOSYLCERAMIDE | 0.19 | 1 |
| NEOLACTOTETRAOSYLCERAMIDE | 0.09 | 1 |
UniProt features (11 total): glycosylation site 4, topological domain 2, chain 1, sequence variant 1, transmembrane region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NFL0-F1 | 86.79 | 0.75 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (4): 88, 94, 214, 391
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022854 | Keratan sulfate biosynthesis |
| R-HSA-913709 | O-linked glycosylation of mucins |
| R-HSA-1430728 | Metabolism |
| R-HSA-1630316 | Glycosaminoglycan metabolism |
| R-HSA-1638074 | Keratan sulfate/keratin metabolism |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5173105 | O-linked glycosylation |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives |
MSigDB gene sets: 122 (showing top):
RNGTGGGC_UNKNOWN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, ARGGGTTAA_UNKNOWN, RYTTCCTG_ETS2_B, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, YNTTTNNNANGCARM_UNKNOWN, GOMF_UDP_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_ACETYLGLUCOSAMINYLTRANSFERASE_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, HMGIY_Q6
GO Biological Process (5): protein O-linked glycosylation (GO:0006493), keratan sulfate proteoglycan biosynthetic process (GO:0018146), poly-N-acetyllactosamine biosynthetic process (GO:0030311), obsolete protein glycosylation (GO:0006486), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266)
GO Molecular Function (12): UDP-glycosyltransferase activity (GO:0008194), acetylglucosaminyltransferase activity (GO:0008375), N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532), nuclease activity (GO:0004518), endonuclease activity (GO:0004519), protein binding (GO:0005515), N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity (GO:0008499), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), hexosyltransferase activity (GO:0016758), nucleotidyltransferase activity (GO:0016779), hydrolase activity (GO:0016787)
GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Keratan sulfate/keratin metabolism | 1 |
| O-linked glycosylation | 1 |
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
| Glycosaminoglycan metabolism | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| glycosyltransferase activity | 2 |
| catalytic activity | 2 |
| glycoprotein biosynthetic process | 1 |
| proteoglycan biosynthetic process | 1 |
| keratan sulfate proteoglycan metabolic process | 1 |
| aminoglycan biosynthetic process | 1 |
| poly-N-acetyllactosamine metabolic process | 1 |
| protein O-linked glycosylation | 1 |
| UDP-glycosyltransferase activity | 1 |
| hexosyltransferase activity | 1 |
| acetylglucosaminyltransferase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| nuclease activity | 1 |
| binding | 1 |
| UDP-galactosyltransferase activity | 1 |
| beta-1,3-galactosyltransferase activity | 1 |
| transferase activity | 1 |
| transferase activity, transferring phosphorus-containing groups | 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
606 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| B3GNT7 | CHST6 | Q9GZX3 | 678 |
| B3GNT7 | B4GALT4 | O60513 | 628 |
| B3GNT7 | KERA | O60938 | 590 |
| B3GNT7 | KRTAP20-3 | Q3LI60 | 541 |
| B3GNT7 | CHST5 | Q9GZS9 | 510 |
| B3GNT7 | CHST1 | O43916 | 499 |
| B3GNT7 | B4GALT1 | P15291 | 441 |
| B3GNT7 | GCNT3 | O95395 | 431 |
| B3GNT7 | B4GALNT2 | Q8NHY0 | 407 |
| B3GNT7 | ST3GAL1 | Q11201 | 403 |
| B3GNT7 | MYBL2 | P10244 | 385 |
| B3GNT7 | CAND2 | O75155 | 384 |
| B3GNT7 | C2orf72 | A6NCS6 | 377 |
| B3GNT7 | LHFPL3 | Q86UP9 | 375 |
| B3GNT7 | CHPF | Q8IZ52 | 371 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| B3GNT7 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| B3GNT7 | GPR152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| B3GNT7 | TUFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| B3GNT7 | B4GALT5 | psi-mi:“MI:0914”(association) | 0.350 |
| B3GNT7 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| B3GNT7 | GPR152 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (24): CASC4 (Two-hybrid), GPR152 (Two-hybrid), B3GNT7 (Proximity Label-MS), GHITM (Affinity Capture-MS), ATP12A (Affinity Capture-MS), BNIP1 (Affinity Capture-MS), NRN1 (Affinity Capture-MS), CANX (Affinity Capture-MS), PHB2 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), SOGA3 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), PHB (Affinity Capture-MS), STX10 (Affinity Capture-MS)
ESM2 similar proteins: A0A2C9JXL4, O43825, O54904, O54905, O75752, O93403, P79948, P79949, Q08BL3, Q0VC84, Q24342, Q5F3G7, Q5HZL5, Q5R5Y3, Q5RAL7, Q5XJP0, Q5YB40, Q66H69, Q6AY39, Q6DE15, Q6GNL1, Q6P3P5, Q6QMG1, Q76EC5, Q793U7, Q7JK24, Q7JK25, Q7JK26, Q7K237, Q7SYI5, Q7T3S5, Q864U6, Q864U8, Q8BGY6, Q8K0J2, Q8NFL0, Q920V1, Q99NB2, Q9BYG0, Q9JI67
Diamond homologs: O43825, O54904, O54905, O75752, O88178, Q1RLK6, Q3USF0, Q5HZL5, Q5R5Y3, Q5RAL7, Q5XJP0, Q66H69, Q6AY39, Q6DE15, Q6P3P5, Q6ZMB0, Q793U7, Q7JK24, Q7JK25, Q7JK26, Q7T3S5, Q7Z7M8, Q864U6, Q864U8, Q8BGY6, Q8K0J2, Q8NFL0, Q8R3I9, Q920V1, Q99NB2, Q9BYG0, Q9C0J1, Q9JI67, Q9MYM7, Q9N293, Q9N294, Q9N295, Q9NY97, Q9Y2C3, Q9Y5Z6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
280 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:231395811:TGTGG:T | donor_loss | 0.9900 |
| 2:231395812:GTG:G | donor_gain | 0.9900 |
| 2:231395814:GGT:G | donor_loss | 0.9900 |
| 2:231395815:GT:G | donor_loss | 0.9900 |
| 2:231395816:T:A | donor_loss | 0.9900 |
| 2:231397716:C:CA | acceptor_gain | 0.9900 |
| 2:231397729:A:AC | acceptor_loss | 0.9900 |
| 2:231397729:A:AG | acceptor_gain | 0.9900 |
| 2:231397729:AG:A | acceptor_gain | 0.9900 |
| 2:231397730:G:GC | acceptor_gain | 0.9900 |
| 2:231397730:GG:G | acceptor_gain | 0.9900 |
| 2:231397730:GGA:G | acceptor_gain | 0.9900 |
| 2:231397730:GGAA:G | acceptor_gain | 0.9900 |
| 2:231395683:A:T | donor_gain | 0.9800 |
| 2:231395810:CTGTG:C | donor_gain | 0.9800 |
| 2:231395813:TG:T | donor_gain | 0.9800 |
| 2:231395814:GG:G | donor_gain | 0.9800 |
| 2:231395815:G:GG | donor_gain | 0.9800 |
| 2:231397179:T:G | acceptor_gain | 0.9800 |
| 2:231397710:ACT:A | acceptor_gain | 0.9800 |
| 2:231397710:A:AG | acceptor_gain | 0.9700 |
| 2:231397711:C:G | acceptor_gain | 0.9700 |
| 2:231397727:ACAG:A | acceptor_gain | 0.9700 |
| 2:231397712:T:A | acceptor_gain | 0.9600 |
| 2:231395811:TGTG:T | donor_gain | 0.9500 |
| 2:231395812:GTGG:G | donor_gain | 0.9500 |
| 2:231395813:TGGT:T | donor_gain | 0.9500 |
| 2:231395814:GGTG:G | donor_gain | 0.9500 |
| 2:231397727:A:AG | acceptor_gain | 0.9300 |
| 2:231397728:C:G | acceptor_gain | 0.9300 |
AlphaMissense
2617 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:231398167:C:A | R150S | 0.999 |
| 2:231398373:G:C | K218N | 0.999 |
| 2:231398373:G:T | K218N | 0.999 |
| 2:231398444:A:T | D242V | 0.999 |
| 2:231398563:T:C | Y282H | 0.999 |
| 2:231398564:A:G | Y282C | 0.999 |
| 2:231398699:A:C | D327A | 0.999 |
| 2:231398699:A:G | D327G | 0.999 |
| 2:231398699:A:T | D327V | 0.999 |
| 2:231398700:C:A | D327E | 0.999 |
| 2:231398700:C:G | D327E | 0.999 |
| 2:231398839:C:G | H374D | 0.999 |
| 2:231398188:T:A | W157R | 0.998 |
| 2:231398188:T:C | W157R | 0.998 |
| 2:231398190:G:C | W157C | 0.998 |
| 2:231398190:G:T | W157C | 0.998 |
| 2:231398438:A:T | D240V | 0.998 |
| 2:231398444:A:G | D242G | 0.998 |
| 2:231398696:A:T | D326V | 0.998 |
| 2:231398698:G:C | D327H | 0.998 |
| 2:231398698:G:T | D327Y | 0.998 |
| 2:231398142:G:C | K141N | 0.997 |
| 2:231398142:G:T | K141N | 0.997 |
| 2:231398179:C:A | R154S | 0.997 |
| 2:231398243:T:C | F175S | 0.997 |
| 2:231398306:A:T | E196V | 0.997 |
| 2:231398341:T:C | F208L | 0.997 |
| 2:231398343:T:A | F208L | 0.997 |
| 2:231398343:T:G | F208L | 0.997 |
| 2:231398363:T:C | L215P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000538956 (2:231400627 G>A), RS1000687449 (2:231394262 G>C), RS1000763936 (2:231400915 G>A,T), RS1000831213 (2:231399628 G>A), RS1000865922 (2:231395626 G>A), RS1000976954 (2:231395876 C>T), RS1001330429 (2:231399762 T>G), RS1001598614 (2:231399902 C>T), RS1001601522 (2:231399846 C>T), RS1001782194 (2:231400170 C>G,T), RS1001933903 (2:231401124 G>A), RS1002103711 (2:231395455 C>G), RS1002168182 (2:231393925 C>T), RS1002285885 (2:231395049 C>T), RS1002311856 (2:231395926 G>A,T)
Disease associations
OMIM: gene MIM:615313 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001969_18 | Heart rate | 1.000000e-10 |
| GCST002710_1 | Anti-saccade response | 6.000000e-08 |
| GCST003818_20 | Resting heart rate | 1.000000e-17 |
| GCST005789_7 | Resting heart rate | 5.000000e-07 |
| GCST010002_411 | Refractive error | 1.000000e-123 |
| GCST010796_4295 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-08 |
| GCST010796_4296 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006874 | antisaccade response measurement |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 6 |
| sodium arsenite | increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Copper | affects cotreatment, increases expression, affects binding, decreases expression | 2 |
| Smoke | decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Naled | affects expression | 1 |
| Niclosamide | increases expression | 1 |
| Poly I-C | affects cotreatment, increases expression | 1 |
| Tretinoin | increases expression | 1 |
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.