B4GALT5

Summary

B4GALT5 (beta-1,4-galactosyltransferase 5, HGNC:928) is a protein-coding gene on chromosome 20q13.13, encoding Beta-1,4-galactosyltransferase 5 (O43286). Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer).

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2.

Source: NCBI Gene 9334 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_004776

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:928
Approved symbol	B4GALT5
Name	beta-1,4-galactosyltransferase 5
Location	20q13.13
Locus type	gene with protein product
Status	Approved
Aliases	beta4GalT-V
Ensembl gene	ENSG00000158470
Ensembl biotype	protein_coding
OMIM	604016
Entrez	9334

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000371711, ENST00000921904, ENST00000921905

RefSeq mRNA: 1 — MANE Select: NM_004776 NM_004776

CCDS: CCDS13420

Canonical transcript exons

ENST00000371711 — 9 exons

Exon	Start	End
ENSE00001039083	49643526	49643650
ENSE00001039084	49656568	49656702
ENSE00001039085	49642468	49642584
ENSE00001039086	49639678	49639800
ENSE00001039088	49646965	49647078
ENSE00001039095	49640478	49640665
ENSE00001262392	49632945	49636459
ENSE00001455930	49713576	49713878
ENSE00001736497	49637341	49637442

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 98.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.7398 / max 4120.3224, expressed in 1806 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187784	35.4444	1806
187783	0.1993	56
209162	0.0961	38

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
nasal cavity epithelium	UBERON:0005384	98.54	gold quality
palpebral conjunctiva	UBERON:0001812	98.34	gold quality
trachea	UBERON:0003126	97.18	gold quality
esophagus squamous epithelium	UBERON:0006920	97.04	gold quality
trabecular bone tissue	UBERON:0002483	96.54	gold quality
adrenal tissue	UBERON:0018303	96.46	gold quality
nasal cavity mucosa	UBERON:0001826	96.31	gold quality
epithelium of esophagus	UBERON:0001976	96.27	gold quality
pericardium	UBERON:0002407	95.96	gold quality
mucosa of urinary bladder	UBERON:0001259	95.94	gold quality
tibialis anterior	UBERON:0001385	95.40	gold quality
secondary oocyte	CL:0000655	95.39	gold quality
cortical plate	UBERON:0005343	95.28	gold quality
pancreatic ductal cell	CL:0002079	95.20	gold quality
epithelial cell of pancreas	CL:0000083	94.90	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.74	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.56	gold quality
pharyngeal mucosa	UBERON:0000355	94.54	gold quality
epithelium of nasopharynx	UBERON:0001951	94.44	gold quality
squamous epithelium	UBERON:0006914	94.41	gold quality
bone marrow	UBERON:0002371	94.34	gold quality
lower lobe of lung	UBERON:0008949	94.32	gold quality
middle temporal gyrus	UBERON:0002771	94.30	gold quality
left adrenal gland	UBERON:0001234	94.18	gold quality
gastrocnemius	UBERON:0001388	93.90	gold quality
adrenal gland	UBERON:0002369	93.84	gold quality
urethra	UBERON:0000057	93.83	gold quality
left adrenal gland cortex	UBERON:0035825	93.82	gold quality
endothelial cell	CL:0000115	93.79	gold quality
adrenal cortex	UBERON:0001235	93.76	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	214.35
E-ANND-3	yes	10.66

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ETS1, SP1, TP53

miRNA regulators (miRDB)

166 targeting B4GALT5, 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-7110-3P	100.00	73.18	2486
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6867-5P	100.00	82.21	3464
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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-651-3P	99.94	73.48	5177

Literature-anchored findings (GeneRIF, showing 12)

• Over-expression of beta-1,4-galactosyltransferase V increases the growth of astrocytoma cell line (PMID:12385586)
• 2.3-kb 5’-flanking region of the human beta-1,4-GalT V gene was cloned and the region -116/-18 relative to the transcription start site as that having promoter activity. (PMID:15263012)
• results suggest that GalT V functioned as a novel glioma growth activator and might represent a novel target in glioma therapy (PMID:16461357)
• Ets-1 enhances expression of the beta-1,4-GalT V gene through activation of the Sp1 gene in cancer cells (PMID:17656364)
• sulfated keratan sulfate is produced by beta3GNT7, beta4GalT4, CGn6ST, and KSG6ST (PMID:17690104)
• These data reveal a critical role of beta1,4GalT V in the self-renewal and tumorigenicity of glioma-initiating cells. (PMID:20417617)
• The expression of the beta-1,4-GalT V gene has been shown to be regulated by transcription factors Sp1 and Ets-1 in cancer cells.(review) (PMID:22687727)
• B4GALT1 and B4GALT5, two members of B4GALT gene family, are involved in the development of multidrug resistance of human leukemia cells. (PMID:23744354)
• Results demonstrated B4GalT5 downregulation improved insulin resistance by promoting adipogenic commitment and decreasing M1 macrophage infiltration. (PMID:29415997)
• beta-1,4-GalT-V gene/protein expression is specifically increased in colorectal cancer, compared to visibly normal tissue. Furthermore, we observed a marked increase in its enzymatic activity, and its product lactosylceramide. beta-1,4-GalT-V may serve as a diagnostic and therapeutic biomarker for the progression of colorectal cancer. (PMID:30502090)
• Hsc70 Interacts with beta4GalT5 to Regulate the Growth of Gliomas. (PMID:30607818)
• Circ_0009910 sponges miR-491-5p to promote acute myeloid leukemia progression through modulating B4GALT5 expression and PI3K/AKT signaling pathway. (PMID:34709725)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	b4galt6	ENSDARG00000010301
mus_musculus	B4galt5	ENSMUSG00000017929
rattus_norvegicus	B4galt5	ENSRNOG00000008283
drosophila_melanogaster	beta4GalNAcTA	FBGN0027538
caenorhabditis_elegans	bre-4	WBGENE00000269

Paralogs (6): B4GALT7 (ENSG00000027847), B4GALT1 (ENSG00000086062), B4GALT2 (ENSG00000117411), B4GALT6 (ENSG00000118276), B4GALT4 (ENSG00000121578), B4GALT3 (ENSG00000158850)

Protein

Protein identifiers

Beta-1,4-galactosyltransferase 5 — O43286 (reviewed: O43286)

Alternative names: Beta-1,4-GalT II, Glucosylceramide beta-1,4-galactosyltransferase, Lactosylceramide synthase, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5

All UniProt accessions (1): O43286

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation. Plays a role in the glycosylation of BMPR1A and regulation of its protein stability. Essential for extraembryonic development during early embryogenesis.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. Ubiquitously expressed.

Induction. Up-regulated in subcutaneous adipose tissue during obesity and diabetes.

Pathway. Protein modification; protein glycosylation. Sphingolipid metabolism.

Similarity. Belongs to the glycosyltransferase 7 family.

RefSeq proteins (1): NP_004767* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003859	Galactosyl_T	Family
IPR027791	Galactosyl_T_C	Domain
IPR027995	Galactosyl_T_N	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily

Pfam: PF02709, PF13733

Enzyme classification (BRENDA):

• EC 2.4.1.274 — glucosylceramide beta-1,4-galactosyltransferase (BRENDA: 4 organisms, 8 substrates, 0 inhibitors, 6 Km, 0 kcat entries)
• EC 2.4.1.38 — beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase (BRENDA: 18 organisms, 205 substrates, 71 inhibitors, 132 Km, 51 kcat entries)
• EC 2.4.1.90 — N-acetyllactosamine synthase (BRENDA: 18 organisms, 143 substrates, 60 inhibitors, 85 Km, 5 kcat entries)

Substrate kinetics (BRENDA)

70 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
N-ACETYLGLUCOSAMINE	0.0007–40	27
UDPGALACTOSE	0.0108–0.25	26
N-ACETYLGLUCOSAMINE	0.0039–40	20
4-METHYLUMBELLIFERYL-BETA-D-XYLOPYRANOSIDE	0.35–1.06	10
UDP-ALPHA-D-GALACTOSE	0.22–0.4	10
UDP-GALACTOSE	0.0105–0.31	5
UDP-GLUCOSE	0.031–0.28	5
D-GLUCOSE	1–21	4
BETA-D-GLUCOSYL-(1<->1)-CERAMIDE	0.003–0.11	3
UDP-GALACTOSE	0.0005–0.52	3
4-METHYLUMBELLIFERYL BETA-D-XYLOPYRANOSIDE	0.16–0.27	2
4-NITROPHENYL BETA-D-XYLOPYRANOSIDE	0.85–1.27	2
ASIALO-AGALACTO-TRANSFERRIN	0.056–0.064	2

Catalyzed reactions (Rhea), 1 shown:

• a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine + UDP-alpha-D-galactose = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP + H(+) (RHEA:31495)

UniProt features (26 total): binding site 10, glycosylation site 7, sequence variant 3, topological domain 2, disulfide bond 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43286-F1	87.66	0.67

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (10): 298–301; 329–330; 329; 340; 169–173; 208–210; 235–236; 236; 264; 296

Disulfide bonds (2): 114–158, 229–248

Glycosylation sites (7): 77, 81, 90, 111, 128, 364, 373

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-2022854	Keratan sulfate biosynthesis
R-HSA-913709	O-linked glycosylation of mucins
R-HSA-975577	N-Glycan antennae elongation
R-HSA-9840309	Glycosphingolipid biosynthesis
R-HSA-1430728	Metabolism
R-HSA-1630316	Glycosaminoglycan metabolism
R-HSA-1638074	Keratan sulfate/keratin metabolism
R-HSA-1660662	Glycosphingolipid metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-428157	Sphingolipid metabolism
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5173105	O-linked glycosylation
R-HSA-556833	Metabolism of lipids
R-HSA-597592	Post-translational protein modification
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives
R-HSA-948021	Transport to the Golgi and subsequent modification
R-HSA-975576	N-glycan antennae elongation in the medial/trans-Golgi

MSigDB gene sets: 337 (showing top): GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_YELLOW_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_NEURON_MATURATION, AAGCCAT_MIR135A_MIR135B, GOBP_GLIAL_CELL_DEVELOPMENT, GOBP_NEUROGENESIS, RIZKI_TUMOR_INVASIVENESS_3D_DN, BROWNE_HCMV_INFECTION_12HR_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, ATGTTAA_MIR302C, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOCC_TRANS_GOLGI_NETWORK

GO Biological Process (16): ganglioside biosynthetic process (GO:0001574), carbohydrate metabolic process (GO:0005975), glycoprotein biosynthetic process (GO:0009101), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), central nervous system neuron axonogenesis (GO:0021955), central nervous system myelination (GO:0022010), poly-N-acetyllactosamine biosynthetic process (GO:0030311), regulation of protein stability (GO:0031647), positive regulation of embryonic development (GO:0040019), neuron maturation (GO:0042551), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), sphingolipid metabolic process (GO:0006665), obsolete ganglioside biosynthetic process via lactosylceramide (GO:0010706), obsolete glycosylation (GO:0070085), carbohydrate derivative biosynthetic process (GO:1901137)

GO Molecular Function (7): N-acetyllactosamine synthase activity (GO:0003945), galactosyltransferase activity (GO:0008378), UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489), metal ion binding (GO:0046872), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (5): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), Golgi cisterna membrane (GO:0032580), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
Post-translational protein modification	2
Metabolism	2
Keratan sulfate/keratin metabolism	1
O-linked glycosylation	1
N-glycan antennae elongation in the medial/trans-Golgi	1
Glycosphingolipid metabolism	1
Metabolism of carbohydrates and carbohydrate derivatives	1
Glycosaminoglycan metabolism	1
Sphingolipid metabolism	1
Metabolism of lipids	1
Metabolism of proteins	1
Asparagine N-linked glycosylation	1
Transport to the Golgi and subsequent modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
primary metabolic process	2
UDP-galactosyltransferase activity	2
ganglioside metabolic process	1
glycosphingolipid biosynthetic process	1
ceramide biosynthetic process	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
protein O-linked glycosylation	1
axonogenesis	1
central nervous system neuron development	1
oligodendrocyte development	1
axon ensheathment in central nervous system	1
myelination	1
aminoglycan biosynthetic process	1
poly-N-acetyllactosamine metabolic process	1
regulation of biological quality	1
embryo development	1
regulation of embryonic development	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
cell maturation	1
neuron development	1
lipid metabolic process	1
biosynthetic process	1
carbohydrate derivative metabolic process	1
hexosyltransferase activity	1
cation binding	1
binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1
organelle membrane	1
Golgi cisterna	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1044 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
B4GALT5	UGCG	Q16739	741
B4GALT5	B3GALT4	O96024	660
B4GALT5	A4GALT	Q9NPC4	658
B4GALT5	ST3GAL5	Q9UNP4	608
B4GALT5	GCNT1	Q02742	605
B4GALT5	SPTSSA	Q969W0	604
B4GALT5	C1GALT1	Q9NS00	577
B4GALT5	B3GNT5	Q9BYG0	570
B4GALT5	ST3GAL2	Q16842	564
B4GALT5	TM9SF2	Q99805	563
B4GALT5	ST3GAL6	Q9Y274	535
B4GALT5	B3GNT2	Q9NY97	529
B4GALT5	B4GALNT2	Q8NHY0	527
B4GALT5	ST3GAL3	Q11203	515
B4GALT5	ST3GAL1	Q11201	507

IntAct

78 interactions, top by confidence:

A	B	Type	Score
DKKL1	DENND11	psi-mi:“MI:0914”(association)	0.640
IL13RA2	CHEK1	psi-mi:“MI:0914”(association)	0.640
FAM234B	ABCD4	psi-mi:“MI:0914”(association)	0.620
HSPA13	B4GALT5	psi-mi:“MI:0915”(physical association)	0.560
MGAT4C	GXYLT2	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
FCGRT	GOLIM4	psi-mi:“MI:0914”(association)	0.530
IL20RB	B4GALT5	psi-mi:“MI:0914”(association)	0.530
SYT12	B4GALT5	psi-mi:“MI:0914”(association)	0.530
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
TPCN2	AP3B1	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
TMX1	NRP1	psi-mi:“MI:0914”(association)	0.530
TNF	B4GALT5	psi-mi:“MI:0914”(association)	0.530
IL27RA	B4GALT5	psi-mi:“MI:0914”(association)	0.530
NAPA	NBAS	psi-mi:“MI:0914”(association)	0.530
CTLA4	B4GALT5	psi-mi:“MI:0914”(association)	0.530
EVA1B	NRP1	psi-mi:“MI:0914”(association)	0.530
TMEM59	B4GALT5	psi-mi:“MI:0914”(association)	0.530
CSF2	B4GALT5	psi-mi:“MI:0915”(physical association)	0.400
HLA-DPA1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
KERA	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (83): B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S6M251, A8Y1P7, H0ZAB5, L7YAI7, O43286, O43505, O60513, O60909, O61394, O61397, O88419, P08037, P15291, P15535, P34548, P34678, P70419, Q09323, Q09363, Q14435, Q3YL68, Q5EA01, Q5EA87, Q5QQ54, Q5QQ55, Q5R4S2, Q66HH1, Q6P768, Q6WV17, Q6WV20, Q7K755, Q80WN7, Q80WN8, Q80WN9, Q8BWP8, Q8I136, Q8IA42, Q8MV48, Q8MVS5, Q91YY2

Diamond homologs: A0A1S6M251, A8Y1P7, O43286, O60512, O60513, O60909, O88419, P08037, P15291, P15535, P34548, Q09323, Q3YL68, Q5EA87, Q5NVN3, Q66HH1, Q6P768, Q80WN7, Q80WN8, Q80WN9, Q8R087, Q91YY2, Q9GUM2, Q9JJ04, Q9JMK0, Q9UBV7, Q9UBX8, Q9VBZ9, Q9WVK5, Q9Z2Y2, Q6ZQ11, Q86X52

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

43 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	2
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1606 predictions. Top by Δscore:

Variant	Effect	Δscore
20:49636455:CATAC:C	acceptor_gain	1.0000
20:49636457:TAC:T	acceptor_gain	1.0000
20:49636457:TACC:T	acceptor_loss	1.0000
20:49636464:T:C	acceptor_gain	1.0000
20:49637441:CT:C	acceptor_gain	1.0000
20:49637443:C:CC	acceptor_gain	1.0000
20:49640476:A:AC	donor_gain	1.0000
20:49640477:C:CC	donor_gain	1.0000
20:49640492:A:AC	donor_gain	1.0000
20:49640492:AT:A	donor_gain	1.0000
20:49640492:ATC:A	donor_gain	1.0000
20:49640493:T:C	donor_gain	1.0000
20:49640661:CCAAC:C	acceptor_gain	1.0000
20:49640662:CAAC:C	acceptor_gain	1.0000
20:49640662:CAACC:C	acceptor_gain	1.0000
20:49640666:CTA:C	acceptor_loss	1.0000
20:49640667:T:C	acceptor_loss	1.0000
20:49642464:TCA:T	donor_loss	1.0000
20:49642465:CA:C	donor_loss	1.0000
20:49642466:A:AC	donor_gain	1.0000
20:49642466:AC:A	donor_loss	1.0000
20:49642467:C:CC	donor_gain	1.0000
20:49642467:CTT:C	donor_gain	1.0000
20:49642580:GCCAC:G	acceptor_gain	1.0000
20:49642581:CCACC:C	acceptor_gain	1.0000
20:49642583:AC:A	acceptor_gain	1.0000
20:49642583:ACCTG:A	acceptor_loss	1.0000
20:49642584:CC:C	acceptor_gain	1.0000
20:49642585:C:CA	acceptor_loss	1.0000
20:49642585:C:CC	acceptor_gain	1.0000

AlphaMissense

2571 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:49637341:C:A	R340M	1.000
20:49639693:T:A	D301V	1.000
20:49639693:T:C	D301G	1.000
20:49639693:T:G	D301A	1.000
20:49639694:C:G	D301H	1.000
20:49639695:A:C	D300E	1.000
20:49639695:A:T	D300E	1.000
20:49639696:T:A	D300V	1.000
20:49639696:T:C	D300G	1.000
20:49639696:T:G	D300A	1.000
20:49639697:C:A	D300Y	1.000
20:49639697:C:G	D300H	1.000
20:49639699:T:A	E299V	1.000
20:49639707:C:A	W296C	1.000
20:49639707:C:G	W296C	1.000
20:49639709:A:G	W296R	1.000
20:49639709:A:T	W296R	1.000
20:49639716:G:C	F293L	1.000
20:49639716:G:T	F293L	1.000
20:49639718:A:G	F293L	1.000
20:49639732:C:T	G288D	1.000
20:49640565:T:A	D236V	1.000
20:49640571:T:A	D234V	1.000
20:49640571:T:G	D234A	1.000
20:49640648:A:C	F208L	1.000
20:49640648:A:T	F208L	1.000
20:49640650:A:G	F208L	1.000
20:49642562:C:G	R171P	1.000
20:49636430:C:G	R350P	0.999
20:49636448:A:G	L344P	0.999

dbSNP variants (sampled 300 via entrez): RS1000049696 (20:49669653 G>A), RS1000084383 (20:49711406 A>G), RS1000121948 (20:49647627 T>C), RS1000147848 (20:49689665 C>T), RS1000162124 (20:49644206 C>A,T), RS1000204264 (20:49702276 A>C), RS1000206407 (20:49666465 A>T), RS1000216342 (20:49643987 G>A), RS1000309716 (20:49701771 G>A), RS1000338986 (20:49701520 T>C), RS1000340566 (20:49692437 A>G), RS1000367835 (20:49664079 G>A), RS1000479048 (20:49645642 G>A,T), RS1000508564 (20:49678999 A>G,T), RS1000513928 (20:49636962 T>C)

Disease associations

OMIM: gene MIM:604016 | 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
GCST001838_2	Palmitic acid (16:0) levels	4.000000e-06
GCST002828_8	Urate levels in obese individuals	6.000000e-06
GCST009597_212	Multiple sclerosis	5.000000e-08
GCST010396_299	Gut microbiota (bacterial taxa, hurdle binary method)	1.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

58 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	affects expression, increases reaction, decreases expression, increases abundance, affects cotreatment (+1 more)	4
bisphenol F	increases expression, affects cotreatment	2
sodium arsenite	affects expression, decreases expression	2
Tretinoin	increases expression	2
Valproic Acid	increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
TL8-506	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
arsenite	increases methylation	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	increases expression	1
cupric chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
corosolic acid	increases expression	1
K 7174	increases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	affects expression, increases reaction	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3T5	HeLa-mCAT#8 TAL-B4G5#2	Cancer cell line	Female
CVCL_XL91	HAP1 B4GALT5 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.