LGALS13

Summary

LGALS13 (galectin 13, HGNC:15449) is a protein-coding gene on chromosome 19q13.2, encoding Galactoside-binding soluble lectin 13 (Q9UHV8). Binds beta-galactoside and lactose.

Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family.

Source: NCBI Gene 29124 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_013268

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15449
Approved symbol	LGALS13
Name	galectin 13
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	PP13, PLAC8
Ensembl gene	ENSG00000105198
Ensembl biotype	protein_coding
OMIM	608717
Entrez	29124

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000221797, ENST00000600141, ENST00000600546

RefSeq mRNA: 1 — MANE Select: NM_013268 NM_013268

CCDS: CCDS33024

Canonical transcript exons

ENST00000221797 — 4 exons

Exon	Start	End
ENSE00000706133	39605178	39605388
ENSE00001058171	39602524	39602583
ENSE00002478016	39604602	39604678
ENSE00003096833	39607223	39607474

Expression profiles

Bgee: expression breadth broad, 44 present calls, max score 88.93.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1124 / max 82.3471, expressed in 7 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175795	0.1021	7
175796	0.0103	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
placenta	UBERON:0001987	88.93	gold quality
diaphragm	UBERON:0001103	61.37	gold quality
sperm	CL:0000019	55.43	gold quality
male germ cell	CL:0000015	55.25	gold quality
tibialis anterior	UBERON:0001385	52.61	silver quality
deltoid	UBERON:0001476	50.55	gold quality
quadriceps femoris	UBERON:0001377	49.77	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
orbitofrontal cortex	UBERON:0004167	49.27	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
epithelial cell of pancreas	CL:0000083	48.93	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
vastus lateralis	UBERON:0001379	48.85	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
thymus	UBERON:0002370	48.79	silver quality
cerebellar vermis	UBERON:0004720	48.63	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
cervix epithelium	UBERON:0004801	48.04	gold quality
oviduct epithelium	UBERON:0004804	48.00	gold quality
tongue squamous epithelium	UBERON:0006919	47.92	gold quality
mucosa of urinary bladder	UBERON:0001259	47.80	gold quality
metanephric glomerulus	UBERON:0004736	47.45	gold quality
kidney epithelium	UBERON:0004819	47.39	gold quality
nephron tubule	UBERON:0001231	47.30	gold quality
gluteal muscle	UBERON:0002000	47.03	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting LGALS13, 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-6510-5P	99.14	66.59	1081
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-4650-3P	99.01	68.39	1062
HSA-MIR-520G-3P	98.91	67.38	1914
HSA-MIR-520H	98.91	67.38	1914
HSA-MIR-4778-5P	97.96	68.06	1634
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-6824-5P	97.41	68.43	583
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-6858-5P	96.05	64.59	1020

Literature-anchored findings (GeneRIF, showing 40)

• The primary structure of the newly sequence analysed placental tissue protein 13 (PP13) was highly homologous to several members of the beta-galactoside-binding S-type lectin (galectin) family (PMID:11742106)
• PP13/galectin-13 may have special haemostatic and immunobiological functions at the lining of the common feto-maternal blood-spaces or developmental role in the placenta. (PMID:15009185)
• screening of maternal PP13 levels in the first trimester is a promising diagnostic tool for the prediction of preeclampsia with high sensitivity and specificity. (PMID:17618748)
• Decreased levels of PP13 (placental protein 13) were not significantly correlated with the studied adverse pregnancy outcomes of intrauterine growth restriction, preterm delivery, low birth weight, and intrauterine fetal demise. (PMID:18186153)
• Maternal serum PP13 concentration in the first trimester was significantly lower in patients who developed preterm and early-onset preeclampsia than in those with normal pregnancies. (PMID:18539259)
• parallel to its decreased placental expression, an augmented membrane shedding of PP13 contributes to the increased third trimester maternal serum PP13 concentrations in women with preterm pre-eclampsia and HELLP syndrome. (PMID:18791734)
• findings indicate that an alteration in the placental protein 13 (PP13) messenger RNA expression in the trophoblasts may be associated with the pathogenesis of preeclampsia (PMID:19087972)
• PP13 is implicated in the pathogenesis of impaired placentation and subsequent development of early-preeclampsia but measurement of this placental product is unlikely to be useful in screening for the disease at 11-13 weeks. (PMID:19777530)
• level in preeclampsia was significantly lower than that in controls (PMID:19813218)
• gene polymorphism is associated with an increased risk of preterm labour (PMID:19818512)
• multiples of the gestation-specific normal median significantly lower in trisomy 18 and 13 pregnancies (PMID:19844942)
• PP13 is a suitable stable molecule and can be treated under routine laboratory and transport temperatures. (PMID:20509161)
• PP13 mRNA is lower in the third trimester at the time of disease while protein level accumulates and become higher creating an unparallel change in the level of the mRNA and the corresponding protein. (PMID:21257080)
• PP13 levels were decreased in women with preeclampsia. (PMID:21257081)
• PP13 is released from the syncytiotrophoblast in preterm preeclampsia and HELLP, mimicked in BeWo cells by ischemic stress, suggesting PP13 is a placental alarmin. (PMID:21596368)
• PP13 was best in predicting early onset pre-eclampsia with a sensitivity of 79% at a 20% false positive rate. (PMID:21652068)
• ABO blood group can alter PP13-bioavailability in blood (PMID:21799738)
• Placental protein 13 was localized to syncytiotrophoblasts in the chorionic villi and to occasional multinucleated luminal trophoblasts within converted decidual spiral arterioles in preeclampsia patients. (PMID:21989657)
• secretion of PAPP-A, ADAM12 and PP13 is closely related to the size of the placenta in the beginning of pregnancy. After 8 weeks of pregnancy, which is the time for luteoplacental shift, the correlation disappears. (PMID:22015022)
• The maternal serum level of placental protein 13 is significantly lower in Egyptian patients with pre-eclampsia compared to controls. (PMID:22460234)
• Data in rats suggest that human LGALS13 plays role in maintaining uteroplacental blood flow and plays possible role in facilitating proper adaptation of maternal vasculature to pregnancy. (PMID:23406577)
• Among singletons with severe preeclampsia, levels were significantly reduced, however, among twins, only a non-significant tendency for a reduction was recorded. (PMID:23729534)
• Evaluation of placental protein 13 (PP13) and risk factors as markers for predicting preeclampsia. (PMID:24607918)
• inadequate sensitivity as first trimester serum marker for pre-eclampsia (PMID:24786703)
• As gal-13 with its anti-inflammatory functions plays a role in maternal immune system, a lack of gal-13 may contribute to an imbalance in inflammation processes in the placenta during pregnancy and therefore influences development of gestational diabetes. (PMID:25499680)
• First-trimester PP-13 levels are significantly correlated with BMI and smoking. These correlations appear independent of uterine and umbilical artery resistance. In low risk patients, PP-13 levels fail to predict the risk for pre-eclampsia or small for gestational age (SGA) neonates. (PMID:26910737)
• Gal-3 was significantly downregulated only in the extravillous trophoblast of intrauterine growth restriction ( IUGR) placentas. In contrast, expressions of gal-2 and gal-13 were downregulated in both villous and extravillous trophoblast cells of IUGR placentas. (PMID:27070577)
• Galectin-13 does not bind beta-galactosides and forms dimers via intermolecular disulfide bridges between Cys-136 and Cys-138. (PMID:29343868)
• PP13 is located in and on all types of syncytiotrophoblast extracellular vesicles. A simple correction for gestational age suggested that preeclampsia may be an important influence. (PMID:29884298)
• These results indicate that Gal-13 is not a normal galectin, which could not bind to beta-galactosides. Lastly, the distribution of EGFP-tagged wild-type Gal-13 and its variants in HeLa cells showed that they are concentrated in the nucleus and could be co-localized within filamentary materials, possibly actin. (PMID:30413611)
• Galectin-13/placental protein 13: redox-active disulfides as switches for regulating structure, function and cellular distribution. (PMID:31584064)
• Placental Protein 13 (Galectin-13) Polarizes Neutrophils Toward an Immune Regulatory Phenotype. (PMID:32117288)
• Increased epithelial galectin-13 expression associates with eosinophilic airway inflammation in asthma. (PMID:34075657)
• [Expression of galectin-13 in allergic diseases involving airway, skin and mucous membranes]. (PMID:35785865)
• Association between Galectin-13 Expression and Eosinophilic Airway Inflammation in Chronic Obstructive Pulmonary Disease. (PMID:36656660)
• PLACENTAL BIOMARKERS: PP13, VEGF IN DIAGNOSTICS OF EARLY AND LATE PREECLAMPSIA. (PMID:36723324)
• Augmented Placental Protein 13 in Placental-Associated Extracellular Vesicles in Term and Preterm Preeclampsia Is Further Elevated by Corticosteroids. (PMID:37569423)
• Intronic variants of LGALS13 gene encoding placental protein (PP13) are linked with increased risk of infection-associated spontaneous preterm birth. (PMID:37641375)
• [Predictive value of serum Gal-13, GLP-1 and VEGF levels in adverse pregnancy outcomes of gestational diabetes mellitus]. (PMID:38186168)
• Placental Protein 13 and Syncytiotrophoblast Basement Membrane Ultrastructures in Preeclampsia. (PMID:39064506)

Cross-species orthologs

31 orthologs

Organism	Symbol	Gene ID
danio_rerio	lgals9l1	ENSDARG00000025903
danio_rerio	lgals9l3	ENSDARG00000041060
danio_rerio	lgals3b	ENSDARG00000044001
danio_rerio	si:ch211-10a23.2	ENSDARG00000060656
danio_rerio	lgals9l4	ENSDARG00000069058
danio_rerio	lgals9l5	ENSDARG00000087311
danio_rerio	si:dkey-95h12.2	ENSDARG00000092923
danio_rerio	lgals9l6	ENSDARG00000093059
mus_musculus	Lgals9	ENSMUSG00000001123
rattus_norvegicus	Lgals5	ENSRNOG00000012557
rattus_norvegicus	Lgals9	ENSRNOG00000012681
drosophila_melanogaster	galectin	FBGN0031213
drosophila_melanogaster	CG11374	FBGN0031214
drosophila_melanogaster	CG13950	FBGN0031289
caenorhabditis_elegans		WBGENE00002264
caenorhabditis_elegans		WBGENE00002266
caenorhabditis_elegans		WBGENE00002269
caenorhabditis_elegans		WBGENE00002270
caenorhabditis_elegans		WBGENE00002271
caenorhabditis_elegans		WBGENE00004165
caenorhabditis_elegans	C27C7.5	WBGENE00007768
caenorhabditis_elegans	F46A8.3	WBGENE00009746
caenorhabditis_elegans	F46A8.4	WBGENE00009747
caenorhabditis_elegans	F46A8.5	WBGENE00009748
caenorhabditis_elegans	F46A8.8	WBGENE00009751
caenorhabditis_elegans		WBGENE00017080
caenorhabditis_elegans		WBGENE00018255
caenorhabditis_elegans		WBGENE00018649
caenorhabditis_elegans		WBGENE00018650
caenorhabditis_elegans		WBGENE00018651
caenorhabditis_elegans		WBGENE00235368

Paralogs (16): LGALS14 (ENSG00000006659), LGALS2 (ENSG00000100079), LGALS1 (ENSG00000100097), CLC (ENSG00000105205), LGALS8 (ENSG00000116977), LGALSL (ENSG00000119862), LGALS3 (ENSG00000131981), LGALS12 (ENSG00000133317), LGALS9 (ENSG00000168961), LGALS9B (ENSG00000170298), LGALS4 (ENSG00000171747), LGALS9C (ENSG00000171916), LGALS7B (ENSG00000178934), LGALS7 (ENSG00000205076), LGALS16 (ENSG00000249861), GRIFIN (ENSG00000275572)

Protein

Protein identifiers

Galactoside-binding soluble lectin 13 — Q9UHV8 (reviewed: Q9UHV8)

Alternative names: Galectin-13, Placental tissue protein 13

All UniProt accessions (2): Q9UHV8, M0R015

UniProt curated annotations — full annotation on UniProt →

Function. Binds beta-galactoside and lactose. Strong inducer of T-cell apoptosis. Has hemagglutinating activity towards chicken erythrocytes. Acts as an activator of ferroptosis: secreted by ferroptotic cells and acts by reducing localization of SLC7A11 at the plasma membrane.

Subunit / interactions. Homodimer; disulfide-linked.

Subcellular location. Cytoplasm. Nucleus matrix. Secreted.

Tissue specificity. Detected in adult and fetal spleen, fetal kidney, adult urinary bladder and placenta. Placental expression originates predominantly from the syncytiotrophoblast.

Induction. Expression is induced by FOXK1 in ferroptotic cells.

RefSeq proteins (1): NP_037400* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001079	Galectin_CRD	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR044156	Galectin-like	Family

Pfam: PF00337

UniProt features (20 total): strand 11, mutagenesis site 3, disulfide bond 2, chain 1, domain 1, turn 1, helix 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
6KJW	X-RAY DIFFRACTION	1.36
6A66	X-RAY DIFFRACTION	1.4
6KJY	X-RAY DIFFRACTION	1.5
6KJX	X-RAY DIFFRACTION	1.53
5XG7	X-RAY DIFFRACTION	1.55
5XG8	X-RAY DIFFRACTION	1.55
6A63	X-RAY DIFFRACTION	1.63
6A64	X-RAY DIFFRACTION	1.63
6A65	X-RAY DIFFRACTION	1.77
6A62	X-RAY DIFFRACTION	2.03
5Y03	X-RAY DIFFRACTION	2.12

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHV8-F1	97.63	0.98

Functional residue map

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

Disulfide bonds (2): 136, 138

Mutagenesis-validated functional residues (3):

Position	Phenotype
53	no effect on its haemagglutinating activity.
136	loss of homodimerization; when associated with s-138.
138	loss of homodimerization; when associated with s-136.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 517 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, MCLACHLAN_DENTAL_CARIES_UP, GOBP_RESPONSE_TO_COLD, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP

GO Biological Process (4): phospholipid metabolic process (GO:0006644), apoptotic process (GO:0006915), positive regulation of ferroptosis (GO:0160020), negative regulation of protein localization to plasma membrane (GO:1903077)

GO Molecular Function (3): phosphatidylcholine lysophospholipase A1 activity (GO:0004622), carbohydrate binding (GO:0030246), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear matrix (GO:0016363), nuclear body (GO:0016604), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
binding	2
nuclear lumen	2
lipid metabolic process	1
organophosphate metabolic process	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
positive regulation of programmed cell death	1
ferroptosis	1
regulation of ferroptosis	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
negative regulation of protein localization to cell periphery	1
negative regulation of protein localization to membrane	1
lysophospholipase A1 activity	1
intracellular anatomical structure	1
nucleoplasm	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

335 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LGALS13	PAPPA	Q13219	875
LGALS13	PGF	P49763	723
LGALS13	ENDOU	P21128	706
LGALS13	ACTG1	P02571	697
LGALS13	GAL	P22466	684
LGALS13	ADAM12	O43184	668
LGALS13	LGALS12	Q96DT0	665
LGALS13	HEBP2	Q9Y5Z4	601
LGALS13	LGALS2	P05162	599
LGALS13	NUTF2	P13662	584
LGALS13	A0A087WTN9	A0A087WTN9	537
LGALS13	LGALS3	P17931	529
LGALS13	ENG	P17813	507
LGALS13	TCEAL1	Q15170	505
LGALS13	TPK1	Q9H3S4	505

IntAct

33 interactions, top by confidence:

A	B	Type	Score
LGALS13	HOXA1	psi-mi:“MI:0915”(physical association)	0.720
HOXA1	LGALS13	psi-mi:“MI:0915”(physical association)	0.720
Hoxa1	LGALS13	psi-mi:“MI:0915”(physical association)	0.570
LGALS13	Hoxa1	psi-mi:“MI:0915”(physical association)	0.570
NUFIP2	LGALS13	psi-mi:“MI:0915”(physical association)	0.560
PACSIN3	LGALS13	psi-mi:“MI:0915”(physical association)	0.560
LGALS13	NUFIP2	psi-mi:“MI:0915”(physical association)	0.560
LGALS13	PACSIN3	psi-mi:“MI:0915”(physical association)	0.560
OTX1	LGALS13	psi-mi:“MI:0915”(physical association)	0.560
PHLDA1	LGALS13	psi-mi:“MI:0915”(physical association)	0.560
POU4F2	LGALS13	psi-mi:“MI:0915”(physical association)	0.560
CREB5	LGALS13	psi-mi:“MI:0915”(physical association)	0.560
PWP1	ANK3	psi-mi:“MI:0914”(association)	0.530
LGALS13	UBB	psi-mi:“MI:0914”(association)	0.530
CREB5	LGALS13	psi-mi:“MI:0915”(physical association)	0.370
LGALS13	POLR1A	psi-mi:“MI:0914”(association)	0.350
PWP1	RPL7A	psi-mi:“MI:0914”(association)	0.350
OTX1	LGALS13	psi-mi:“MI:0915”(physical association)	0.000
HOXA1	LGALS13	psi-mi:“MI:0915”(physical association)	0.000
PHLDA1	LGALS13	psi-mi:“MI:0915”(physical association)	0.000
POU4F2	LGALS13	psi-mi:“MI:0915”(physical association)	0.000
CREB5	LGALS13	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): LGALS13 (Two-hybrid), PACSIN3 (Two-hybrid), NUFIP2 (Two-hybrid), LGALS13 (PCA), Hoxa1 (Affinity Capture-Western), CREB5 (Two-hybrid), LGALS13 (Affinity Capture-MS), CENPV (Affinity Capture-MS), UBB (Affinity Capture-MS), DNPEP (Affinity Capture-MS), POLR1A (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), HOXA1 (Two-hybrid), OTX1 (Two-hybrid), PHLDA1 (Two-hybrid)

ESM2 similar proteins: A0A3Q1N1R0, A4D1Z8, A8MUM7, D3ZGS3, O00214, O08573, O14727, O23547, O44126, O54891, O88644, O88879, P07583, P08520, P11762, P23668, P26788, P36573, P38552, P47967, P56180, P56217, P56470, P79238, P97400, P97840, Q01968, Q05315, Q09581, Q09605, Q29058, Q3MHZ8, Q62665, Q6DGJ1, Q6NVF0, Q801X7, Q8C726, Q8K419, Q8LEV3, Q8TCE9

Diamond homologs: A8MUM7, O00182, O08573, O54891, P38486, P38552, P47929, P79238, P97400, P97840, Q05315, Q29058, Q3B8N2, Q3MHZ8, Q3T0D6, Q6DKI2, Q8K419, Q8TCE9, Q9UHV8, A8N3G7, C0HJQ1, C0HJR3, O44126, O54974, P08520, P08699, P09382, P11116, P16110, P17931, P36573, P47845, P47953, P47967, P56470, P81184, P97590, Q09581, Q1ECW6, Q206Z5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2006 predictions. Top by Δscore:

Variant	Effect	Δscore
19:39602584:G:GG	donor_gain	1.0000
19:39604231:GGAT:G	donor_gain	1.0000
4:83063071:CTTA:C	acceptor_loss	1.0000
4:83063073:TAG:T	acceptor_loss	1.0000
4:83063074:A:AG	acceptor_gain	1.0000
4:83063074:AG:A	acceptor_gain	1.0000
4:83063075:G:GC	acceptor_gain	1.0000
4:83063075:GG:G	acceptor_gain	1.0000
4:83063075:GGGCA:G	acceptor_gain	1.0000
4:83063243:GATG:G	donor_gain	1.0000
4:83063245:TGGT:T	donor_loss	1.0000
4:83063247:G:GA	donor_loss	1.0000
4:83066430:T:G	acceptor_gain	1.0000
4:83066435:AAG:A	acceptor_gain	1.0000
4:83066436:A:AG	acceptor_gain	1.0000
4:83066437:G:A	acceptor_gain	1.0000
4:83066437:G:GG	acceptor_gain	1.0000
4:83066549:C:G	donor_gain	1.0000
4:83066550:TAAG:T	donor_loss	1.0000
4:83066551:AAG:A	donor_loss	1.0000
4:83066552:AGGT:A	donor_loss	1.0000
4:83066555:T:G	donor_loss	1.0000
4:83068435:TAGGC:T	acceptor_loss	1.0000
4:83068436:A:AG	acceptor_gain	1.0000
4:83068436:A:T	acceptor_loss	1.0000
4:83068436:AGGC:A	acceptor_gain	1.0000
4:83068437:G:GT	acceptor_gain	1.0000
4:83068437:GGC:G	acceptor_gain	1.0000
4:83068437:GGCG:G	acceptor_gain	1.0000
4:83068519:GAAA:G	donor_gain	1.0000

AlphaMissense

919 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:39607253:T:C	F112L	0.909
19:39607255:T:A	F112L	0.909
19:39607255:T:G	F112L	0.909
19:39605350:T:C	F89L	0.899
19:39605352:T:A	F89L	0.899
19:39605352:T:G	F89L	0.899
19:39604656:G:T	G24W	0.884
19:39605332:T:C	F83L	0.860
19:39605334:T:A	F83L	0.860
19:39605334:T:G	F83L	0.860
19:39605257:T:C	F58L	0.848
19:39605259:T:A	F58L	0.848
19:39605259:T:G	F58L	0.848
19:39604656:G:A	G24R	0.840
19:39604656:G:C	G24R	0.840
19:39605203:T:C	F40L	0.823
19:39605205:C:A	F40L	0.823
19:39605205:C:G	F40L	0.823
19:39604674:T:C	F30L	0.822
19:39604676:T:A	F30L	0.822
19:39604676:T:G	F30L	0.822
19:39604651:T:A	I22N	0.798
19:39605384:A:C	Y100S	0.794
19:39605204:T:C	F40S	0.785
19:39605383:T:C	Y100H	0.783
19:39604651:T:G	I22S	0.774
19:39604657:G:A	G24E	0.772
19:39605198:T:A	V38E	0.769
19:39604645:T:A	V20E	0.766
19:39605246:T:C	F54S	0.752

dbSNP variants (sampled 300 via entrez): RS1001064587 (19:39604435 T>C), RS1001517022 (19:39604102 G>A), RS1001629323 (19:39605828 TTTTG>T,TTTTGTTTG), RS1001799971 (19:39605695 A>G), RS1001934251 (19:39605673 C>A), RS1001967262 (19:39600755 C>A,T), RS1002449234 (19:39601818 G>A), RS1003040378 (19:39607116 C>A), RS1003068313 (19:39606738 A>G), RS1003868060 (19:39600928 A>T), RS1003868109 (19:39601945 T>C), RS1004109671 (19:39607784 C>T), RS1004648783 (19:39603254 G>T), RS1005008818 (19:39603443 A>G), RS1005084538 (19:39606310 G>A)

Disease associations

OMIM: gene MIM:608717 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002935_5	Lead levels	4.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, decreases methylation	1
hydroxyhydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide	increases expression, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	affects cotreatment, decreases methylation	1
Cadmium	decreases reaction, increases abundance, increases expression	1
Colforsin	decreases reaction, increases abundance, increases expression	1
Sodium Selenite	decreases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases reaction, increases abundance, increases expression	1
beta-Naphthoflavone	decreases expression	1

Clinical trials (associated diseases)

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