TREML2

triggering receptor expressed on myeloid cells like 2, the group of V-set domain containing

Basic information

Region (hg38): 6:41189748-41201149

Previous symbols: [ "C6orf76" ]

Links

ENSG00000112195 ∙ NCBI:79865 ∙ OMIM:609715 ∙ HGNC:21092 ∙ Uniprot:Q5T2D2 ∙ 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 TREML2 gene.

• Inborn genetic diseases (18 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TREML2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			14	4	1	19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	5	1

Variants in TREML2

This is a list of pathogenic ClinVar variants found in the TREML2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-41192449-T-C		not specified	Uncertain significance (Nov 21, 2022)
6-41192477-G-A		not specified	Uncertain significance (May 18, 2023)
6-41192835-C-T		not specified	Uncertain significance (Nov 30, 2022)
6-41192881-G-A		not specified	Uncertain significance (Jun 01, 2023)
6-41192881-G-C		not specified	Uncertain significance (Aug 16, 2021)
6-41194427-G-C		not specified	Uncertain significance (Jan 30, 2024)
6-41194441-A-G		not specified	Likely benign (Jul 09, 2021)
6-41194459-G-C		not specified	Uncertain significance (May 31, 2023)
6-41194463-T-A		not specified	Uncertain significance (Apr 19, 2023)
6-41194485-G-A		not specified	Uncertain significance (Jan 17, 2023)
6-41194572-G-A		not specified	Uncertain significance (Nov 21, 2022)
6-41194590-C-A		not specified	Uncertain significance (Aug 11, 2022)
6-41194648-T-A		not specified	Uncertain significance (Dec 05, 2022)
6-41194657-C-T		not specified	Likely benign (May 17, 2023)
6-41194792-T-C		not specified	Uncertain significance (Jan 02, 2024)
6-41194803-G-A		not specified	Uncertain significance (Jan 30, 2024)
6-41198139-A-G			Likely benign (May 01, 2022)
6-41198159-G-C		not specified	Likely benign (Apr 12, 2022)
6-41198258-C-T		not specified	Uncertain significance (Jun 26, 2023)
6-41198293-C-G		not specified	Uncertain significance (May 25, 2022)
6-41198348-T-C		not specified	Uncertain significance (Feb 21, 2024)
6-41198352-C-T		not specified	Likely benign (Oct 04, 2022)
6-41198366-T-C		not specified	Uncertain significance (Jan 16, 2024)
6-41198416-G-C			Benign (Jun 05, 2018)
6-41200967-C-G		not specified	Uncertain significance (Feb 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TREML2	protein_coding	protein_coding	ENST00000483722	5	10918

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.14e-9	0.0521	125693	0	55	125748	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.293	161	172	0.937	0.00000860	2037
Missense in Polyphen		42	38.323	1.0959		485
Synonymous	-0.211	72	69.8	1.03	0.00000363	681
Loss of Function	-0.351	13	11.7	1.11	6.70e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000241	0.000238
Ashkenazi Jewish	0.000551	0.000397
East Asian	0.000381	0.000381
Finnish	0.000143	0.000139
European (Non-Finnish)	0.000220	0.000202
Middle Eastern	0.000381	0.000381
South Asian	0.000331	0.000327
Other	0.000337	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cell surface receptor that may play a role in the innate and adaptive immune response. Acts as a counter-receptor for CD276 and interaction with CD276 on T-cells enhances T-cell activation. {ECO:0000269|PubMed:12645956, ECO:0000269|PubMed:18650384}.
• Pathway: Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Recessive Scores

• pRec: 0.0594

Intolerance Scores

• loftool: 0.898
• rvis_EVS: 1.73
• rvis_percentile_EVS: 96.56

Haploinsufficiency Scores

• pHI: 0.0362
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.000254

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Treml2

Gene ontology

• Biological process: T cell activation;regulation of immune response
• Cellular component: plasma membrane;cell surface;integral component of membrane
• Molecular function: protein binding;signaling receptor activity