KLRG2

killer cell lectin like receptor G2, the group of Killer cell lectin like receptors|C-type lectin domain containing

Basic information

Region (hg38): 7:139452690-139483673

Links

ENSG00000188883 ∙ NCBI:346689 ∙ ∙ HGNC:24778 ∙ Uniprot:A4D1S0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KLRG2 gene.

• not_specified (68 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLRG2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198508.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			66	2		68
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLRG2	protein_coding	protein_coding	ENST00000340940	5	31023

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.11e-12	0.0157	125382	0	365	125747	0.00145

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.712	162	190	0.854	0.00000939	2494
Missense in Polyphen		42	49.023	0.85674		679
Synonymous	0.913	79	90.0	0.878	0.00000509	885
Loss of Function	-0.576	16	13.7	1.17	6.51e-7	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0198	0.0197
Ashkenazi Jewish	0.000211	0.000198
East Asian	0.000707	0.000707
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.0000628	0.0000615
Middle Eastern	0.000707	0.000707
South Asian	0.000163	0.000163
Other	0.000834	0.000815

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0889
• hipred: N
• hipred_score: 0.285
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.128

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klrg2

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: carbohydrate binding