SIGLEC8 sialic acid binding Ig like lectin 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SIGLEC8provided by HGNC
Official Full Name: sialic acid binding Ig like lectin 8provided by HGNC
Primary source: HGNC:HGNC:10877
See related: Ensembl:ENSG00000105366 MIM:605639; AllianceGenome:HGNC:10877
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAF2; SIGLEC-8; SIGLEC8L
Summary: Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]
Expression: Broad expression in lymph node (RPKM 2.6), spleen (RPKM 2.6) and 14 other tissues See more
Orthologs: all
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Genomic context

Location:: 19q13.41

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51450997..51458454, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54539617..54547074, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51954251..51961708, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sialylated keratan sulfates on MUC5B are Siglec-8 ligands in the human esophagus.
Title: Sialylated keratan sulfates on MUC5B are Siglec-8 ligands in the human esophagus.
Induction of the endogenous sialoglycan ligand for eosinophil death receptor Siglec-8 in chronic rhinosinusitis with hyperplastic nasal polyposis.
Title: Induction of the endogenous sialoglycan ligand for eosinophil death receptor Siglec-8 in chronic rhinosinusitis with hyperplastic nasal polyposis.
First Evidence for a Role of Siglec-8 in Breast Cancer.
Title: First Evidence for a Role of Siglec-8 in Breast Cancer.
Promoter region single nucleotide polymorphism of siglec-8 gene associates with susceptibility to allergic asthma.
Title: Promoter region single nucleotide polymorphism of siglec-8 gene associates with susceptibility to allergic asthma.
Siglec-8 is highly expressed on blood eosinophils from eosinophilic donors and normal donors and represents a potential therapeutic target for eosinophilic disorders
Title: Sialic acid-binding immunoglobulin-like lectin (Siglec) 8 in patients with eosinophilic disorders: Receptor expression and targeting using chimeric antibodies.
These data demonstrate that Siglec-8 functions uniquely as an activating receptor on IL-5-primed eosinophils through a novel pathway involving regulation of beta2-integrin-dependent adhesion, NADPH oxidase, and a subset of protein kinases
Title: Sialic acid-binding immunoglobulin-like lectin 8 (Siglec-8) is an activating receptor mediating β(2)-integrin-dependent function in human eosinophils.
Targeting saporin to Siglec-8 consistently caused extensive cell death.
Title: Leveraging Siglec-8 endocytic mechanisms to kill human eosinophils and malignant mast cells.
In differentiating ,eosinophils, SIGLEC-8 messenger RNA and protein were markedly down-regulated in parallel with OLIG2 by an OLIG2 small interfering RNA or a short hairpin RNA. An E-box in the first intron was found to stimulate SIGLEC-8 gene transcription and to bind OLIG2.
Title: Olig2 is expressed late in human eosinophil development and controls Siglec-8 expression.
miR-215 acts in concert with the host gene IARS2 to affect neuron migration and proliferation through the target gene SIGLEC-8.
Title: Role of MiR-215 in Hirschsprung's Disease Pathogenesis by Targeting SIGLEC-8.
Our study suggested that intratumoral Siglec-8 expression was an independent prognostic factor for overall survival of patients with gastric cancer
Title: Decreased expression of Siglec-8 associates with poor prognosis in patients with gastric cancer after surgical resection.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2354 (e-PCR)
- UniSTS:473392

D8S2279 (e-PCR)
- UniSTS:473907

D1S1425 (e-PCR)
- UniSTS:149621

NoName (e-PCR)
- UniSTS:481499

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sialic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: sialic acid-binding Ig-like lectin 8

Names: CDw329; SAF-2; sialoadhesin family member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001363548.1 → NP_001350477.1 sialic acid-binding Ig-like lectin 8 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AF195092, BC053319, BP309940, DA388103

Consensus CDS

CCDS86797.1

UniProtKB/TrEMBL

C9JT30

Related

ENSP00000339448.4, ENST00000340550.5

Conserved Domains (2) summary

smart00410
Location:176 → 251

IG_like; Immunoglobulin like

cl11960
Location:27 → 151

Ig; Immunoglobulin domain
NM_014442.3 → NP_055257.2 sialic acid-binding Ig-like lectin 8 isoform 1 precursor

See identical proteins and their annotated locations for NP_055257.2

Status: VALIDATED

Source sequence(s)

AF195092, BC053319, DA388103

Consensus CDS

CCDS33086.1

UniProtKB/Swiss-Prot

Q7Z728, Q9NYZ4

Related

ENSP00000321077.2, ENST00000321424.7

Conserved Domains (3) summary

smart00408
Location:275 → 335

IGc2; Immunoglobulin C-2 Type

smart00410
Location:269 → 344

IG_like; Immunoglobulin like

cl11960
Location:27 → 151

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

51450997..51458454 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526734.3 → XP_011525036.1 sialic acid-binding Ig-like lectin 8 isoform X1

Conserved Domains (3) summary

smart00408
Location:264 → 324

IGc2; Immunoglobulin C-2 Type

smart00410
Location:258 → 333

IG_like; Immunoglobulin like

cl11960
Location:27 → 151

Ig; Immunoglobulin domain