LGALS8

protein-coding

galectin 8, the group of Galectins

Gene summary

This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

MANE transcript

NM_201544.4

Inheritance

—

ClinVar variants

U:39B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr1:236,518,000-236,552,981

External References & Databases

Ensembl (ENSG00000116977)

Transcript & Mutation Effects

hg38 • Region Span ~35.0 kb

Loading mutation effect viewer...

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 LGALS8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 40

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_201544.4. 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			2 clinvar	1 clinvar	1 clinvar	4
missense			35 clinvar	3 clinvar		38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	39	4	1	44

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 81 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_201544.4	RefSeq	NP_963838.1	9	MANE Select
ENST00000366584.9	Ensembl	ENSP00000355543.4	9	MANE Select
NM_006499.5	RefSeq	NP_006490.3	10	Standard
NM_201543.4	RefSeq	NP_963837.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cellular response to virus
xenophagy
lymphatic endothelial cell migration

Molecular Function

integrin binding
protein binding
carbohydrate binding

Cellular Component

extracellular space
cytoplasm
cytosol
membrane
cytoplasmic vesicle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000526589
Coding exons: 10
Length: 34982
Individuals with no LoFs: 125627
Homozygous LoFs: 0
Heterozygous LoFs: 121
Defined: 125748
p: 0.000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0281	197	196	1.01	0.0000106	2368
Missense (PolyPhen)		52	54.097	0.96124		717
Synonymous	-0.729	79	71.2	1.11	0.00000409	662
Loss of Function	1.39	11	17.2	0.639	8.90e-7	214

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0023	0.0023	notable
Latino/Admixed American	0.00026	0.00026	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00012	0.00011	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00038	0.00038	rare
South Asian	0.0010	0.00085	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Beta-galactoside-binding lectin that acts as a sensor of membrane damage caused by infection and restricts the proliferation of infecting pathogens by targeting them for autophagy (PubMed:22246324, PubMed:28077878). Detects membrane rupture by binding beta-galactoside ligands located on the lumenal side of the endosome membrane; these ligands becoming exposed to the cytoplasm following rupture (PubMed:22246324, PubMed:28077878). Restricts infection by initiating autophagy via interaction with CALCOCO2/NDP52 (PubMed:22246324, PubMed:28077878). Required to restrict infection of bacterial invasion such as S.typhimurium (PubMed:22246324). Also required to restrict infection of Picornaviridae viruses (PubMed:28077878). Has a marked preference for 3'-O-sialylated and 3'-O-sulfated glycans (PubMed:21288902). {ECO:0000269|PubMed:21288902, ECO:0000269|PubMed:22246324, ECO:0000269|PubMed:28077878}.;

Recessive Scores

pRec: 0.170

Intolerance Scores

LoFtool: 0.996
RVIS EVS: 1.06
RVIS percentile EVS: 91.58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.586

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High