SIGLEC10

Summary

SIGLEC10 (sialic acid binding Ig like lectin 10, HGNC:15620) is a protein-coding gene on chromosome 19q13.41, encoding Sialic acid-binding Ig-like lectin 10 (Q96LC7). Putative adhesion molecule that mediates sialic-acid dependent binding to cells.

SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).

Source: NCBI Gene 89790 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 141 total
• Druggable target: yes
• MANE Select transcript: NM_033130

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15620
Approved symbol	SIGLEC10
Name	sialic acid binding Ig like lectin 10
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Aliases	SIGLEC-10, SLG2, PRO940, MGC126774
Ensembl gene	ENSG00000142512
Ensembl biotype	protein_coding
OMIM	606091
Entrez	89790

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 2 retained_intron

ENST00000339313, ENST00000353836, ENST00000357375, ENST00000436984, ENST00000439889, ENST00000441969, ENST00000442846, ENST00000524527, ENST00000525998, ENST00000529627, ENST00000530476, ENST00000961807, ENST00000961808, ENST00000961809

RefSeq mRNA: 7 — MANE Select: NM_033130 NM_001171156, NM_001171157, NM_001171158, NM_001171159, NM_001171161, NM_001322105, NM_033130

CCDS: CCDS12832, CCDS54301, CCDS54302, CCDS54303, CCDS54304, CCDS54305, CCDS82384

Canonical transcript exons

ENST00000339313 — 11 exons

Exon	Start	End
ENSE00000954610	51417082	51417465
ENSE00001600782	51417545	51417642
ENSE00002160305	51410020	51411371
ENSE00002437830	51416310	51416357
ENSE00003470349	51413712	51413823
ENSE00003573035	51415181	51415438
ENSE00003575571	51415568	51415615
ENSE00003588387	51414422	51414515
ENSE00003627184	51416666	51416950
ENSE00003691491	51414824	51415108
ENSE00003791138	51415898	51416167

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 95.41.

FANTOM5 (CAGE): breadth broad, TPM avg 8.0632 / max 551.1879, expressed in 437 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182410	6.0796	408
182412	0.6345	176
182408	0.4745	139
182411	0.3924	169
182415	0.1484	64
182416	0.1370	51
182409	0.1228	54
182407	0.0631	30
182413	0.0064	4
182414	0.0047	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	95.41	gold quality
leukocyte	CL:0000738	94.85	gold quality
monocyte	CL:0000576	94.82	gold quality
blood	UBERON:0000178	94.52	gold quality
vermiform appendix	UBERON:0001154	93.78	gold quality
spleen	UBERON:0002106	93.15	gold quality
oocyte	CL:0000023	90.95	gold quality
secondary oocyte	CL:0000655	89.80	gold quality
caecum	UBERON:0001153	86.98	gold quality
lymph node	UBERON:0000029	85.50	gold quality
buccal mucosa cell	CL:0002336	85.11	gold quality
right adrenal gland cortex	UBERON:0035827	81.55	gold quality
left adrenal gland	UBERON:0001234	81.05	gold quality
right adrenal gland	UBERON:0001233	80.88	gold quality
left adrenal gland cortex	UBERON:0035825	80.20	gold quality
small intestine Peyer’s patch	UBERON:0003454	79.88	gold quality
adrenal cortex	UBERON:0001235	79.11	gold quality
bone marrow cell	CL:0002092	78.92	gold quality
small intestine	UBERON:0002108	78.06	gold quality
upper lobe of left lung	UBERON:0008952	78.02	gold quality
endothelial cell	CL:0000115	77.89	silver quality
bone marrow	UBERON:0002371	77.89	gold quality
upper lobe of lung	UBERON:0008948	77.72	gold quality
epithelium of nasopharynx	UBERON:0001951	77.06	gold quality
adrenal gland	UBERON:0002369	76.52	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.36	gold quality
spinal cord	UBERON:0002240	75.18	gold quality
superficial temporal artery	UBERON:0001614	74.60	silver quality
tonsil	UBERON:0002372	74.56	gold quality
rectum	UBERON:0001052	73.98	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.23
E-MTAB-6678	yes	7.28
E-CURD-112	yes	6.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting SIGLEC10, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-374A-3P	98.87	67.82	1531
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-6894-5P	98.70	63.78	809
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-10395-3P	98.10	66.70	1726

Literature-anchored findings (GeneRIF, showing 15)

• the apparent occurrence of an unusual TG 3’ splice site in intron 11 is discussed (PMID:17672918)
• Siglec-10-VAP-1 interaction seems to mediate lymphocyte adhesion to endothelium (PMID:19861682)
• Siglec-10 is associated with decreased survival and impaired NK cell function in human hepatocellular carcinoma (HCC). (PMID:25450598)
• soluble CD52 exerts a concerted immunosuppressive effect by first sequestering HMGB1 to nullify its proinflammatory Box B, followed by binding to the inhibitory Siglec-10 receptor, triggering recruitment of SHP1 to the intracellular immunoreceptor tyrosine-based inhibitory motif of Siglec-10 and its interaction with the TCR. (PMID:29997173)
• Genetic ablation of either CD24 or Siglec-10, as well as blockade of the CD24-Siglec-10 interaction using monoclonal antibodies, robustly augment the phagocytosis of all CD24-expressing human tumours that we tested. Genetic ablation and therapeutic blockade of CD24 resulted in a macrophage-dependent reduction of tumour growth in vivo and an increase in survival time. (PMID:31367043)
• Siglec-10 expression is up-regulated in activated human CD4(+) T cells. (PMID:32046870)
• Molecular Mechanism of Tumor Cell Immune Escape Mediated by CD24/Siglec-10. (PMID:32765491)
• Novel insights into the function of CD24: A driving force in cancer. (PMID:32790899)
• A Guillain-Barre syndrome-associated SIGLEC10 rare variant impairs its recognition of gangliosides. (PMID:33223341)
• Innate immune checkpoint Siglec10 in cancers: mining of comprehensive omics data and validation in patient samples. (PMID:35075579)
• Long-Term Elevated Siglec-10 in Cerebral Spinal Fluid Heralds Better Prognosis for Patients with Aneurysmal Subarachnoid Hemorrhage. (PMID:36188429)
• High Expression and Significance of Siglec10/CD24 in Unexplained Missed Abortion. (PMID:37933581)
• Gene expression patterns of CRYM and SIGLEC10 in Alzheimer’s disease: potential early diagnostic indicators. (PMID:38401023)
• Siglec10 Expression on Tumor-associated Macrophages Is an Independent Prognostic Factor in Stage I Lung Adenocarcinoma. (PMID:38423652)
• Identification of Siglec-10 as a new dendritic cell checkpoint for cervical cancer immunotherapy. (PMID:39209455)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Siglecg	ENSMUSG00000030468
rattus_norvegicus	Siglec10	ENSRNOG00000037339

Paralogs (16): CD22 (ENSG00000012124), SIGLEC1 (ENSG00000088827), SIGLEC8 (ENSG00000105366), CD33 (ENSG00000105383), SIGLEC6 (ENSG00000105492), MAG (ENSG00000105695), SIGLEC9 (ENSG00000129450), TMEM25 (ENSG00000149582), SIGLEC11 (ENSG00000161640), SIGLEC16 (ENSG00000161643), SIGLEC7 (ENSG00000168995), SIGLECL1 (ENSG00000179213), SIGLEC15 (ENSG00000197046), SIGLEC14 (ENSG00000254415), SIGLEC12 (ENSG00000254521), SIGLEC5 (ENSG00000268500)

Protein

Protein identifiers

Sialic acid-binding Ig-like lectin 10 — Q96LC7 (reviewed: Q96LC7)

Alternative names: Siglec-like protein 2

All UniProt accessions (4): Q96LC7, E9PJA1, E9PKV9, E9PL79

UniProt curated annotations — full annotation on UniProt →

Function. Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, seems to act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Involved in negative regulation of B-cell antigen receptor signaling. The inhibition of B cell activation is dependent on PTPN6/SHP-1. In association with CD24 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, HSP70 and HSP90. In association with CD24 may regulate the immune repsonse of natural killer (NK) cells. Plays a role in the control of autoimmunity. During initiation of adaptive immune responses by CD8-alpha(+) dendritic cells inhibits cross-presentation by impairing the formation of MHC class I-peptide complexes. The function seems to implicate recruitment of PTPN6/SHP-1, which dephosphorylates NCF1 of the NADPH oxidase complex consequently promoting phagosomal acidification.

Subunit / interactions. Interacts with PTPN6/SHP-1 upon phosphorylation. Interacts with NCF1. Interacts with CD24; the probable CD24:SIGLEC10 complex is proposed to inhibit HGMB1-mediated tissue damage immune response. Interacts with HMGB1; the interaction is dependent on CD24. Interacts with RIGI, CBL and PTPN11.

Subcellular location. Cell membrane Cell membrane Cell membrane Cell membrane Secreted.

Tissue specificity. Expressed by peripheral blood leukocytes (eosinophils, monocytes and a natural killer cell subpopulation). Isoform 5 is found to be the most abundant isoform. Found in lymph node, lung, ovary and appendix. Isoform 1 is found at high levels and isoform 2 at lower levels in bone marrow, spleen and spinal cord. Isoform 2 is also found in brain. Isoform 4 is specifically found in natural killer cells.

Post-translational modifications. Phosphorylation of Tyr-667 is involved in binding to PTPN6.

Domain organisation. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.

Similarity. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.

Isoforms (9)

UniProt ID	Names	Canonical?
Q96LC7-1	1, Long	yes
Q96LC7-2	2, Short, Sv1
Q96LC7-3	3, Sv3
Q96LC7-4	4, Sv4
Q96LC7-5	5, Sv2
Q96LC7-6	6
Q96LC7-7	7
Q96LC7-8	8
Q96LC7-9	9

RefSeq proteins (7): NP_001164627, NP_001164628, NP_001164629, NP_001164630, NP_001164632, NP_001309034, NP_149121* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003006	Ig/MHC_CS	Conserved_site
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR051036	SIGLEC	Family

Pfam: PF07679, PF07686, PF13927

UniProt features (49 total): sequence conflict 10, splice variant 9, glycosylation site 5, disulfide bond 5, domain 4, short sequence motif 2, compositionally biased region 2, topological domain 2, sequence variant 2, mutagenesis site 2, signal peptide 1, chain 1, binding site 1, modified residue 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9O6O	X-RAY DIFFRACTION	2.7
9O6N	X-RAY DIFFRACTION	2.98
9O6J	X-RAY DIFFRACTION	3.39

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LC7-F1	73.51	0.39

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 (1): 119

Post-translational modifications (1): 667

Disulfide bonds (5): 36–173, 41–101, 164–215, 276–323, 380–425

Glycosylation sites (5): 100, 355, 364, 486, 504

Mutagenesis-validated functional residues (2):

Position	Phenotype
119	disrupts interaction with cd24.
667	abolishes binding to ptpn6.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 94 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOMF_SH2_DOMAIN_BINDING, GOBP_REGULATION_OF_RESPONSE_TO_WOUNDING, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE, GOBP_ADAPTIVE_IMMUNE_RESPONSE, GARY_CD5_TARGETS_DN, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_DEFENSE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS

GO Biological Process (5): adaptive immune response (GO:0002250), cell adhesion (GO:0007155), innate immune response (GO:0045087), negative regulation of inflammatory response to wounding (GO:0106015), immune system process (GO:0002376)

GO Molecular Function (5): phosphatase binding (GO:0019902), carbohydrate binding (GO:0030246), sialic acid binding (GO:0033691), SH2 domain binding (GO:0042169), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Adaptive Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
immune response	2
binding	2
cellular anatomical structure	2
cellular process	1
defense response to symbiont	1
negative regulation of inflammatory response	1
inflammatory response to wounding	1
regulation of inflammatory response to wounding	1
negative regulation of response to wounding	1
biological_process	1
enzyme binding	1
carboxylic acid binding	1
carbohydrate derivative binding	1
protein domain specific binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1416 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SIGLEC10	CD24	P25063	998
SIGLEC10	HMGB1	P09429	965
SIGLEC10	CD47	Q08722	928
SIGLEC10	AOC3	Q16853	891
SIGLEC10	CD52	P31358	874
SIGLEC10	CD274	Q9NZQ7	629
SIGLEC10	HSP90AB1	P08238	557
SIGLEC10	FCGR3B	O75015	513
SIGLEC10	CD27	P26842	511
SIGLEC10	SIRPA	P78324	506
SIGLEC10	FCGR3A	P08637	504
SIGLEC10	HSP90AA1	P07900	499
SIGLEC10	ICAM1	P05362	494
SIGLEC10	ST6GAL1	P15907	474
SIGLEC10	HSPA4	P34932	463

IntAct

28 interactions, top by confidence:

A	B	Type	Score
CD52	SIGLEC10	psi-mi:“MI:0407”(direct interaction)	0.610
CD52	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.610
ESR1	PGK2	psi-mi:“MI:0914”(association)	0.530
SIGLEC10	S	psi-mi:“MI:0407”(direct interaction)	0.440
SIGLEC10	TLR1	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC10	TLR3	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC10	TLR8	psi-mi:“MI:0915”(physical association)	0.400
HLA-B	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC10	ADGRA3	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC10	CD33	psi-mi:“MI:0915”(physical association)	0.400
CD300LB	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC10	CTLA4	psi-mi:“MI:0915”(physical association)	0.400
PROCR	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
FCAR	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC10	LILRB2	psi-mi:“MI:0915”(physical association)	0.400
LRIT2	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
PDGFRB	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
PIGR	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC15	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC7	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC8	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC9	SIGLEC10	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC10	TNFRSF6B	psi-mi:“MI:0915”(physical association)	0.400
SIGLEC10	SIGLEC16	psi-mi:“MI:0914”(association)	0.350
CD72	SIGLEC10	psi-mi:“MI:0914”(association)	0.350
PTPN6	SIGLEC10	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): LGALS3BP (Reconstituted Complex), SIGLEC16 (Affinity Capture-MS), SIGLEC10 (Affinity Capture-MS), SIGLEC10 (Affinity Capture-MS), PTRH2 (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), SIGLEC10 (Reconstituted Complex), SIGLEC10 (Affinity Capture-MS), SIGLEC10 (Affinity Capture-MS), SIGLEC16 (Affinity Capture-MS), PTRH2 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), SIGLEC10 (Affinity Capture-MS), SIGLEC10 (Reconstituted Complex)

ESM2 similar proteins: A6NMB1, A7LCJ3, G1T7E7, G1TR84, M3XWH1, O15389, O43699, O70540, P04217, P05362, P0DP72, P13597, P20138, P32942, P33729, Q00238, Q08ET2, Q14773, Q28125, Q28730, Q28806, Q2KJF1, Q5NKT8, Q5NKU6, Q5NKV4, Q5NKV6, Q5NKV9, Q60625, Q62230, Q64JA4, Q6DN72, Q7L513, Q80ZE3, Q91Y57, Q920A9, Q920G3, Q92154, Q95132, Q95LH0, Q96A28

Diamond homologs: A6NMB1, D3YXG0, O15389, O43699, O60469, P20138, P35329, Q08ET2, Q63994, Q64JA4, Q80ZE3, Q8N441, Q8VHZ8, Q91Y57, Q920G3, Q95LH0, Q96LC7, Q96PQ1, Q96RL6, Q96RW7, Q9ERC8, Q9NYZ4, Q9Y286, Q9Y336, Q460M5, Q6ZMC9, Q80TG9, Q8N7X8, Q9BE71, Q9ULH4, A1KZ92, A2AJ76, A2ASS6, P98160, Q28173, Q62151, Q63495, Q8BQC3, Q8NDA2, Q9QZS7

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
ITK	up-regulates	SIGLEC10	phosphorylation
JAK3	up-regulates	SIGLEC10	phosphorylation
JAK3	unknown	SIGLEC10	phosphorylation
LCK	up-regulates	SIGLEC10	phosphorylation
LCK	unknown	SIGLEC10	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 26 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
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	7	27.7×	3e-07
Neutrophil degranulation	7	7.3×	8e-04
Adaptive Immune System	5	6.8×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of interleukin-6 production	5	34.8×	6e-05
immune response	5	9.8×	3e-03
cell adhesion	6	9.4×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	27
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1599 predictions. Top by Δscore:

Variant	Effect	Δscore
19:51413707:CTCA:C	donor_loss	1.0000
19:51413708:TCAC:T	donor_loss	1.0000
19:51413709:CACCA:C	donor_loss	1.0000
19:51413710:A:AC	donor_gain	1.0000
19:51413710:A:C	donor_loss	1.0000
19:51413711:C:CC	donor_gain	1.0000
19:51413711:C:T	donor_loss	1.0000
19:51413824:C:CC	acceptor_gain	1.0000
19:51414420:A:AC	donor_gain	1.0000
19:51414421:C:CC	donor_gain	1.0000
19:51415439:C:CC	acceptor_gain	1.0000
19:51415897:CA:C	donor_gain	1.0000
19:51416661:CTCA:C	donor_loss	1.0000
19:51416662:TCA:T	donor_loss	1.0000
19:51416664:A:AC	donor_gain	1.0000
19:51416664:A:AT	donor_loss	1.0000
19:51416664:ACAGG:A	donor_gain	1.0000
19:51416665:C:CC	donor_gain	1.0000
19:51416665:C:CT	donor_loss	1.0000
19:51416665:CAGG:C	donor_gain	1.0000
19:51416665:CAGGC:C	donor_gain	1.0000
19:51417130:AGCTT:A	donor_gain	1.0000
19:51417131:G:C	donor_gain	1.0000
19:51417134:T:TA	donor_gain	1.0000
19:51413705:CACT:C	donor_loss	0.9900
19:51413706:ACTC:A	donor_loss	0.9900
19:51413711:CCA:C	donor_gain	0.9900
19:51413711:CCAG:C	donor_gain	0.9900
19:51413711:CCAGG:C	donor_gain	0.9900
19:51413820:CATGC:C	acceptor_loss	0.9900

AlphaMissense

4480 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:51416058:C:A	W288C	0.993
19:51416058:C:G	W288C	0.993
19:51417233:G:C	F90L	0.992
19:51417233:G:T	F90L	0.992
19:51417235:A:G	F90L	0.992
19:51417320:G:C	F61L	0.992
19:51417320:G:T	F61L	0.992
19:51417322:A:G	F61L	0.992
19:51417323:C:A	W60C	0.992
19:51417323:C:G	W60C	0.992
19:51416832:C:A	W180C	0.991
19:51416832:C:G	W180C	0.991
19:51416060:A:G	W288R	0.989
19:51416060:A:T	W288R	0.989
19:51416834:A:G	W180R	0.989
19:51416834:A:T	W180R	0.989
19:51417147:C:G	R119P	0.989
19:51416729:A:G	C215R	0.988
19:51417234:A:C	F90C	0.987
19:51416728:C:G	C215S	0.986
19:51416729:A:T	C215S	0.986
19:51416882:A:G	C164R	0.986
19:51417234:A:G	F90S	0.986
19:51417325:A:G	W60R	0.986
19:51417325:A:T	W60R	0.986
19:51416881:C:T	C164Y	0.985
19:51417201:C:G	C101S	0.985
19:51417202:A:T	C101S	0.985
19:51416095:C:G	C276S	0.984
19:51416096:A:T	C276S	0.984

dbSNP variants (sampled 300 via entrez): RS1000801667 (19:51416022 G>A), RS1001670861 (19:51412510 G>A), RS1001698039 (19:51412132 A>C), RS1001757913 (19:51417140 C>T), RS1001789132 (19:51416953 G>A,T), RS1002920780 (19:51418107 T>G), RS1003306878 (19:51417886 G>A), RS1003307138 (19:51414760 AC>A), RS1003816842 (19:51419513 C>T), RS1004151544 (19:51410827 T>G), RS1004529769 (19:51418173 A>G), RS1004719288 (19:51415703 A>C,G), RS1004812836 (19:51418441 G>A), RS1005667314 (19:51411651 G>A,C), RS1005689826 (19:51411431 C>A,G,T)

Disease associations

OMIM: gene MIM:606091 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4303061 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — CD33-related SIGLECs

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Particulate Matter	increases abundance, increases expression, affects cotreatment	2
GSK-J4	decreases expression	1
daidzein	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
daidzin	affects cotreatment, decreases expression	1
sulforaphane	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
genistin	affects cotreatment, decreases expression	1
glycitein	affects cotreatment, decreases expression	1
tebuconazole	decreases expression	1
glycitin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Allergens	increases expression, affects cotreatment, increases abundance	1
Vehicle Emissions	increases expression, affects cotreatment, increases abundance	1
Cisplatin	increases expression	1
Diazinon	increases methylation	1
Methapyrilene	increases methylation	1
Nickel	increases expression	1
Ozone	increases expression, increases abundance	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Antirheumatic Agents	decreases expression	1
Genistein	affects cotreatment, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E6RP	Genomeditech CHO-K1 H_SIGLEC10	Spontaneously immortalized cell line	Female

Clinical trials (associated diseases)

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