B3GLCT

Summary

B3GLCT (beta 3-glucosyltransferase, HGNC:20207) is a protein-coding gene on chromosome 13q12.3, encoding Beta-1,3-glucosyltransferase (Q6Y288). Beta-1,3-glucosyltransferase involved in one of the two pathways responsible for protein O-linked fucosylation, a unique post-translational modification of cysteine-knotted proteins that regulates various biological processes.

The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).

Source: NCBI Gene 145173 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Peters plus syndrome (Definitive, ClinGen)
• GWAS associations: 6
• Clinical variants (ClinVar): 377 total — 14 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 134
• MANE Select transcript: NM_194318

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20207
Approved symbol	B3GLCT
Name	beta 3-glucosyltransferase
Location	13q12.3
Locus type	gene with protein product
Status	Approved
Aliases	B3GTL, B3Glc-T
Ensembl gene	ENSG00000187676
Ensembl biotype	protein_coding
OMIM	610308
Entrez	145173

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000343307, ENST00000461652, ENST00000873566, ENST00000946543

RefSeq mRNA: 1 — MANE Select: NM_194318 NM_194318

CCDS: CCDS9341

Canonical transcript exons

ENST00000343307 — 15 exons

Exon	Start	End
ENSE00001364232	31215051	31215100
ENSE00001366033	31286720	31286819
ENSE00001369560	31229185	31229294
ENSE00001370552	31247855	31247966
ENSE00001379105	31284648	31284761
ENSE00001379198	31317566	31317685
ENSE00001379519	31199975	31200154
ENSE00001381276	31222952	31222991
ENSE00001381830	31247023	31247099
ENSE00001384113	31323751	31323895
ENSE00001390916	31329501	31332276
ENSE00003484141	31276702	31276771
ENSE00003517362	31269214	31269277
ENSE00003623948	31274509	31274628
ENSE00003635128	31260946	31261082

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 90.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0136 / max 105.4138, expressed in 1707 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134656	6.1008	1677
206996	0.9127	615

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	90.81	gold quality
calcaneal tendon	UBERON:0003701	87.84	gold quality
cardiac muscle of right atrium	UBERON:0003379	87.66	silver quality
right atrium auricular region	UBERON:0006631	85.52	gold quality
tibialis anterior	UBERON:0001385	85.28	gold quality
oviduct epithelium	UBERON:0004804	85.12	gold quality
cardiac atrium	UBERON:0002081	85.04	gold quality
ileal mucosa	UBERON:0000331	84.40	gold quality
smooth muscle tissue	UBERON:0001135	84.16	gold quality
endothelial cell	CL:0000115	83.44	gold quality
heart left ventricle	UBERON:0002084	82.58	gold quality
cardiac ventricle	UBERON:0002082	82.14	gold quality
heart	UBERON:0000948	81.94	gold quality
myocardium	UBERON:0002349	81.62	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.49	gold quality
stromal cell of endometrium	CL:0002255	81.39	gold quality
caudate nucleus	UBERON:0001873	81.34	gold quality
body of uterus	UBERON:0009853	81.32	gold quality
putamen	UBERON:0001874	81.28	gold quality
nucleus accumbens	UBERON:0001882	81.26	gold quality
apex of heart	UBERON:0002098	79.46	gold quality
popliteal artery	UBERON:0002250	79.41	gold quality
tibial artery	UBERON:0007610	79.41	gold quality
left uterine tube	UBERON:0001303	78.24	gold quality
aorta	UBERON:0000947	77.99	gold quality
heart right ventricle	UBERON:0002080	77.74	gold quality
prefrontal cortex	UBERON:0000451	77.51	gold quality
tendon	UBERON:0000043	77.27	gold quality
Brodmann (1909) area 9	UBERON:0013540	76.85	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.48

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

146 targeting B3GLCT, 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-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-LET-7A-3P	100.00	74.03	3932
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-190A-3P	100.00	80.35	5520
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-5688	99.96	73.23	4504

Literature-anchored findings (GeneRIF, showing 16)

• B3GTL is transcribed in a wide range of tissues and has conserved domains and motifs (PMID:12943678)
• We report here the molecular cloning and characterization of a novel beta1,3-glucosyltransferase (beta3Glc-T) that synthesizes a Glcbeta1,3Fucalpha- structure on the TSR domain. (PMID:16899492)
• Biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showed that Peters Plus is a monogenic, primarily single-mutation syndrome. (PMID:16909395)
• Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.( (PMID:18199743)
• two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products; data confirm an important role for B3GALTL in causing typical Peters Plus syndrome (PMID:18798333)
• Novel B3GALTL mutation in Peters-plus Syndrome (PMID:19796186)
• The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition. (PMID:21067481)
• Vertebral defects in a patient with Peters plus syndrome and mutations in B3GALTL. (PMID:21671750)
• A novel homozygous c.597-2A>G mutation was identified in both patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene (PMID:22759511)
• Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic Peters plus syndrome (PPS) and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation. (PMID:23889335)
• a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome (PMID:23954224)
• POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation. (PMID:25544610)
• Studies indicate that Peters Plus syndrome is caused by mutations in beta 3-glucosyltransferase (B3GALTL). (PMID:27049305)
• Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report. (PMID:32204707)
• Peters plus syndrome mutations affect the function and stability of human beta1,3-glucosyltransferase. (PMID:34058199)
• Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells. (PMID:34695439)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	b3glcta	ENSDARG00000073917
danio_rerio	b3glctb	ENSDARG00000077740
mus_musculus	B3glct	ENSMUSG00000051950
rattus_norvegicus	B3glct	ENSRNOG00000061346
drosophila_melanogaster	CG9109	FBGN0031765
caenorhabditis_elegans		WBGENE00022576

Paralogs (3): MFNG (ENSG00000100060), LFNG (ENSG00000106003), RFNG (ENSG00000169733)

Protein

Protein identifiers

Beta-1,3-glucosyltransferase — Q6Y288 (reviewed: Q6Y288)

Alternative names: Beta 3-glucosyltransferase, Beta-3-glycosyltransferase-like

All UniProt accessions (1): Q6Y288

UniProt curated annotations — full annotation on UniProt →

Function. Beta-1,3-glucosyltransferase involved in one of the two pathways responsible for protein O-linked fucosylation, a unique post-translational modification of cysteine-knotted proteins that regulates various biological processes. This pathway targets proteins with Thrombospondin type-1 (TSP1) repeats (TSR) in the endoplasmic reticulum. It starts with POFUT2, which attaches fucose via an O-glycosidic bond to a conserved serine or threonine residue. B3GLCT extends this modification by transferring a glucose molecule from UDP-glucose to the fucose.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed, with highest levels in testis and uterus.

Disease relevance. Peters-plus syndrome (PTRPLS) [MIM:261540] An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 31 family.

RefSeq proteins (1): NP_919299* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003378	Fringe-like_glycosylTrfase	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily

Pfam: PF02434

Catalyzed reactions (Rhea), 2 shown:

• 3-O-(alpha-L-fucosyl)-L-seryl-[protein] + UDP-alpha-D-glucose = 3-O-(beta-D-glucosyl-(1->3)-alpha-L-fucosyl)-L-seryl-[protein] + UDP + H(+) (RHEA:70543)
• 3-O-(alpha-L-fucosyl)-L-threonyl-[protein] + UDP-alpha-D-glucose = 3-O-(beta-D-glucosyl-(1->3)-alpha-L-fucosyl)-L-threonyl-[protein] + UDP + H(+) (RHEA:70547)

UniProt features (9 total): topological domain 2, chain 1, transmembrane region 1, short sequence motif 1, glycosylation site 1, sequence variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6Y288-F1	86.94	0.77

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 (1): 336

Mutagenesis-validated functional residues (1):

Position	Phenotype
495–498	abolishes endoplasmic reticulum localization.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-5083635	Defective B3GALTL causes PpS
R-HSA-5173214	O-glycosylation of TSR domain-containing proteins
R-HSA-1643685	Disease
R-HSA-3781865	Diseases of glycosylation
R-HSA-3906995	Diseases associated with O-glycosylation of proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5173105	O-linked glycosylation
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 479 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_CILIUM_ORGANIZATION, GOBP_APPENDAGE_DEVELOPMENT, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_SECRETION, GOBP_ORGANELLE_ASSEMBLY, GOBP_CRANIAL_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_HEAD_DEVELOPMENT, AFP1_Q6, AACTTT_UNKNOWN, GOBP_FUCOSE_METABOLIC_PROCESS, GOBP_SENSORY_ORGAN_DEVELOPMENT

GO Biological Process (13): skeletal system development (GO:0001501), fucose metabolic process (GO:0006004), brain development (GO:0007420), protein secretion (GO:0009306), gene expression (GO:0010467), protein O-linked glycosylation via fucose (GO:0036066), camera-type eye development (GO:0043010), roof of mouth development (GO:0060021), limb development (GO:0060173), cilium assembly (GO:0060271), cranial skeletal system development (GO:1904888), obsolete protein glycosylation (GO:0006486), cilium organization (GO:0044782)

GO Molecular Function (4): acetylglucosaminyltransferase activity (GO:0008375), glycosyltransferase activity (GO:0016757), O-fucosylpeptide 3-beta-glucosyltransferase activity (GO:0160265), transferase activity (GO:0016740)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Diseases associated with O-glycosylation of proteins	1
O-linked glycosylation	1
Diseases of metabolism	1
Diseases of glycosylation	1
Post-translational protein modification	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	2
system development	1
hexose metabolic process	1
central nervous system development	1
animal organ development	1
head development	1
protein transport	1
secretion by cell	1
establishment of protein localization to extracellular region	1
protein localization to extracellular region	1
macromolecule biosynthetic process	1
protein O-linked glycosylation	1
eye development	1
appendage development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
organelle organization	1
plasma membrane bounded cell projection organization	1
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
transferase activity	1
UDP-glucosyltransferase activity	1
catalytic activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

754 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
B3GLCT	POFUT2	Q9Y2G5	959
B3GLCT	RXFP2	Q8WXD0	846
B3GLCT	SPON1	Q9HCB6	811
B3GLCT	CFP	P27918	685
B3GLCT	SLC16A8	O95907	671
B3GLCT	INSL3	P51460	662
B3GLCT	ADAMTS9	Q9P2N4	652
B3GLCT	COL8A1	P27658	632
B3GLCT	ARMS2	P0C7Q2	620
B3GLCT	FOXE3	Q13461	617
B3GLCT	THBS1	P07996	604
B3GLCT	MEDAG	Q5VYS4	590
B3GLCT	FILIP1L	Q4L180	581
B3GLCT	LSP1	P33241	548
B3GLCT	RAD51B	O15315	546

IntAct

37 interactions, top by confidence:

A	B	Type	Score
THBS2	AP1G2	psi-mi:“MI:0914”(association)	0.530
ALPG	ALPP	psi-mi:“MI:0914”(association)	0.530
C6	B3GLCT	psi-mi:“MI:0914”(association)	0.530
CFP	B3GLCT	psi-mi:“MI:0914”(association)	0.530
ERBB3	SLC31A1	psi-mi:“MI:0914”(association)	0.530
ADAMTS18	ALB	psi-mi:“MI:0914”(association)	0.530
CGREF1	TNKS	psi-mi:“MI:0914”(association)	0.530
B3GLCT	H1-2	psi-mi:“MI:0915”(physical association)	0.400
CEP43	CCHCR1	psi-mi:“MI:0914”(association)	0.350
SMC6	IFT88	psi-mi:“MI:0914”(association)	0.350
EMC2	TBL2	psi-mi:“MI:0914”(association)	0.350
AK1	NBAS	psi-mi:“MI:0914”(association)	0.350
CTSE	CHEK1	psi-mi:“MI:0914”(association)	0.350
ADAMTS18	IGKC	psi-mi:“MI:0914”(association)	0.350
PAPLN	PKM	psi-mi:“MI:0914”(association)	0.350
ADAMTSL1	GRN	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
ADAMTS13	C2CD4B	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
TAFAZZIN	MANBA	psi-mi:“MI:0914”(association)	0.350
IDS	COCH	psi-mi:“MI:0914”(association)	0.350
PAPLN	SDHB	psi-mi:“MI:0914”(association)	0.350

BioGRID (49): B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS), B3GALTL (Affinity Capture-MS)

ESM2 similar proteins: A0A2C9JXL4, E9Q649, O95395, P0DN25, P97402, Q08BL3, Q0VC84, Q18515, Q24342, Q3SX46, Q499P3, Q5F3G7, Q5HZL5, Q5U258, Q5XJP0, Q5YB40, Q66GS2, Q6A1G2, Q6DE15, Q6DJR8, Q6GNL1, Q6P3P5, Q6P6V1, Q6WV16, Q6Y288, Q7K237, Q7SYI5, Q7T3S5, Q7Z1Z1, Q864U8, Q866Z5, Q8BGY6, Q8BHT6, Q8L7M1, Q8LPF8, Q8N0V5, Q8NCW6, Q96EU7, Q99NB2, Q9BYG0

Diamond homologs: Q6Y288, Q8BHT6, Q7SYI5, Q9JJ05

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 50 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Defective B3GALTL causes PpS	6	52.9×	2e-07
O-glycosylation of TSR domain-containing proteins	6	51.5×	2e-07

GO biological processes:

GO term	Partners	Fold	FDR
extracellular matrix organization	6	16.6×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	9
Uncertain significance	171
Likely benign	83
Benign	56

Top pathogenic / likely-pathogenic (23)

Variant ID	HGVS	Classification
1210066	NM_194318.4(B3GLCT):c.335del (p.Pro112fs)	Pathogenic
1228388	NM_194318.4(B3GLCT):c.1167C>G (p.Tyr389Ter)	Pathogenic
1264	NM_194318.4(B3GLCT):c.660+1G>A	Pathogenic
1265	NM_194318.4(B3GLCT):c.347+5G>A	Pathogenic
1267	NM_194318.4(B3GLCT):c.230dup (p.Leu77fs)	Pathogenic
1268	NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu)	Pathogenic
1324051	NM_194318.4(B3GLCT):c.101_104del (p.Lys34fs)	Pathogenic
194286	NM_194318.4(B3GLCT):c.1067_1082del (p.Ile356fs)	Pathogenic
194287	NM_194318.4(B3GLCT):c.1065-1G>A	Pathogenic
2076573	NM_194318.4(B3GLCT):c.1015C>T (p.Gln339Ter)	Pathogenic
2427625	NC_000013.10:g.(?31835063)(31835239_?)del	Pathogenic
441635	GRCh37/hg19 13q12.3-13.1(chr13:31682663-33765790)x1	Pathogenic
4734897	NM_194318.4(B3GLCT):c.301_313del (p.Leu101fs)	Pathogenic
57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	Pathogenic
1335807	NM_194318.4(B3GLCT):c.1045G>A (p.Asp349Asn)	Likely pathogenic
1696069	NM_194318.4(B3GLCT):c.1184+1G>A	Likely pathogenic
2020769	NM_194318.4(B3GLCT):c.851-1G>T	Likely pathogenic
2718343	NM_194318.4(B3GLCT):c.161-1G>T	Likely pathogenic
2741660	NM_194318.4(B3GLCT):c.71-1G>T	Likely pathogenic
3065313	NM_194318.4(B3GLCT):c.578G>A (p.Ser193Asn)	Likely pathogenic
3382088	NM_194318.4(B3GLCT):c.206_207del (p.Phe69fs)	Likely pathogenic
817468	NM_194318.4(B3GLCT):c.238dup (p.Ser80fs)	Likely pathogenic
930254	NM_194318.4(B3GLCT):c.1177G>C (p.Gly393Arg)	Likely pathogenic

SpliceAI

3521 predictions. Top by Δscore:

Variant	Effect	Δscore
13:31203383:G:T	donor_gain	1.0000
13:31215049:A:AG	acceptor_gain	1.0000
13:31215050:G:GG	acceptor_gain	1.0000
13:31215097:TCAGG:T	donor_loss	1.0000
13:31215099:AG:A	donor_loss	1.0000
13:31215100:GGTAC:G	donor_loss	1.0000
13:31215101:G:C	donor_loss	1.0000
13:31215102:T:A	donor_loss	1.0000
13:31222939:A:AG	acceptor_gain	1.0000
13:31222940:T:G	acceptor_gain	1.0000
13:31222944:A:G	acceptor_gain	1.0000
13:31222989:TAG:T	donor_gain	1.0000
13:31222989:TAGGT:T	donor_loss	1.0000
13:31222990:AGG:A	donor_loss	1.0000
13:31222993:T:G	donor_loss	1.0000
13:31223807:G:GT	donor_gain	1.0000
13:31223823:GGGG:G	donor_gain	1.0000
13:31223824:GGGG:G	donor_gain	1.0000
13:31229183:A:AG	acceptor_gain	1.0000
13:31229184:G:GG	acceptor_gain	1.0000
13:31229292:CAGGT:C	donor_loss	1.0000
13:31229295:G:C	donor_loss	1.0000
13:31229296:T:G	donor_loss	1.0000
13:31247100:G:GG	donor_gain	1.0000
13:31260940:TAACA:T	acceptor_loss	1.0000
13:31260942:ACAGG:A	acceptor_loss	1.0000
13:31260943:CAGGA:C	acceptor_loss	1.0000
13:31260944:A:C	acceptor_loss	1.0000
13:31260945:GGA:G	acceptor_gain	1.0000
13:31261024:GTTTT:G	donor_gain	1.0000

AlphaMissense

3295 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:31269254:T:C	F213L	0.999
13:31269256:T:A	F213L	0.999
13:31269256:T:G	F213L	0.999
13:31286801:A:T	D349V	0.999
13:31286804:A:T	D350V	0.999
13:31286807:A:T	D351V	0.999
13:31323828:A:C	D421A	0.999
13:31323828:A:G	D421G	0.999
13:31323828:A:T	D421V	0.999
13:31329558:C:G	H463D	0.999
13:31276743:A:C	K274N	0.998
13:31276743:A:T	K274N	0.998
13:31286725:T:A	C324S	0.998
13:31286726:G:C	C324S	0.998
13:31286803:G:C	D350H	0.998
13:31286804:A:C	D350A	0.998
13:31286807:A:C	D351A	0.998
13:31323827:G:C	D421H	0.998
13:31323829:T:A	D421E	0.998
13:31323829:T:G	D421E	0.998
13:31323832:G:A	M422I	0.998
13:31323832:G:C	M422I	0.998
13:31323832:G:T	M422I	0.998
13:31260989:T:A	I168K	0.997
13:31260994:C:G	H170D	0.997
13:31269255:T:C	F213S	0.997
13:31269255:T:G	F213C	0.997
13:31276756:T:C	F279L	0.997
13:31276758:T:A	F279L	0.997
13:31276758:T:G	F279L	0.997

dbSNP variants (sampled 300 via entrez): RS1000001205 (13:31203421 G>T), RS1000042062 (13:31285509 C>G), RS1000067647 (13:31225404 A>G), RS1000110390 (13:31321162 C>T), RS1000120625 (13:31263557 C>T), RS1000125475 (13:31235709 C>T), RS1000155458 (13:31289098 A>G), RS1000212887 (13:31258927 C>G), RS1000229503 (13:31241728 G>T), RS1000255589 (13:31241923 A>G), RS1000265370 (13:31259167 C>T), RS1000314481 (13:31211922 T>C), RS1000334796 (13:31294565 A>C), RS1000339944 (13:31270331 C>G), RS1000345694 (13:31212139 T>C)

Disease associations

OMIM: gene MIM:610308 | disease phenotypes: MIM:261540

GenCC curated gene-disease

Disease	Classification	Inheritance
Peters plus syndrome	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Peters plus syndrome	Definitive	AR

Mondo (1): Peters plus syndrome (MONDO:0009856)

Orphanet (1): Peters plus syndrome (Orphanet:709)

HPO phenotypes

134 total (30 of 134 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000013	Hypoplasia of the uterus
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000059	Hypoplastic labia majora
HP:0000060	Clitoral hypoplasia
HP:0000073	Ureteral duplication
HP:0000075	Renal duplication
HP:0000089	Renal hypoplasia
HP:0000126	Hydronephrosis
HP:0000154	Wide mouth
HP:0000175	Cleft palate
HP:0000200	Short lingual frenulum
HP:0000204	Cleft upper lip
HP:0000219	Thin upper lip vermilion
HP:0000233	Thin vermilion border
HP:0000238	Hydrocephalus
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000260	Wide anterior fontanel
HP:0000276	Long face
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001884_10	Age-related macular degeneration	2.000000e-08
GCST003219_32	Advanced age-related macular degeneration	3.000000e-10
GCST006585_985	Blood protein levels	2.000000e-19
GCST006696_7	Parental longevity (mother’s attained age)	5.000000e-08
GCST007325_238	General risk tolerance (MTAG)	1.000000e-09
GCST010774_32	Essential hypertension (time to event)	2.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:1001492	atrophic macular degeneration
EFO:0007796	parental longevity
EFO:0008579	risk-taking behaviour
EFO:0004918	age at diagnosis

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537617	Krause-Kivlin syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	affects expression, decreases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
chromium hexavalent ion	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	increases expression	1
Demecolcine	decreases expression	1
Diethylstilbestrol	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression, affects cotreatment	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Oxygen	decreases expression	1
Quercetin	decreases expression	1
Antirheumatic Agents	increases expression	1
Acrylamide	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SE44	HAP1 B3GALTL (-) 1	Cancer cell line	Male
CVCL_SE45	HAP1 B3GALTL (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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