SIGLEC14

protein-coding

sialic acid binding Ig like lectin 14, the group of V-set domain containing|Sialic acid binding Ig like lectins

Gene summary

Predicted to enable sialic acid binding activity. Predicted to be involved in cell adhesion. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001098612.3

Inheritance

—

ClinVar variants

U:53B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.47

Max pathogenic AF

—

Genomic locus

chr19:51,639,478-51,646,825

External References & Databases

Ensembl (ENSG00000254415)

NCBI Gene (100049587)

Transcript & Mutation Effects

hg38 • Region Span ~7.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SIGLEC14 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 53

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001098612.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			52 clinvar	2 clinvar		54
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	3	0	56

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001098612.3	RefSeq	NP_001092082.1	7	MANE Select
ENST00000360844.7	Ensembl	ENSP00000354090.5	7	MANE Select
XM_047437991.1	RefSeq	XP_047293947.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neutrophil degranulation
DAP12 interactions
Innate Immune System
Immune System

Biological Process

cell adhesion
neutrophil degranulation
innate immune response

Molecular Function

carbohydrate binding

Cellular Component

plasma membrane
integral component of membrane
tertiary granule membrane
ficolin-1-rich granule membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000360844
Coding exons: 7
Length: 4249
Individuals with no LoFs: 117180
Homozygous LoFs: 2
Heterozygous LoFs: 21
Defined: 117203
p: 0.0000981

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.436	173	190	0.911	0.0000105	2499
Missense (PolyPhen)		43	48.69	0.88315		731
Synonymous	2.28	55	81.1	0.678	0.00000463	831
Loss of Function	1.88	7	14.8	0.472	7.06e-7	199

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00024	0.00024	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000019	0.000018	rare
South Asian	0.00057	0.00046	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Putative adhesion molecule. Sialic acid-binding paired receptor which may activate associated receptors. {ECO:0000269|PubMed:17012248}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0332

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium