TICAM2

TIR domain containing adaptor molecule 2, the group of TIR domain containing

Basic information

Region (hg38): 5:115578496-115602479

Links

ENSG00000243414

∙ NCBI:353376 ∙ OMIM:608321 ∙ HGNC:21354 ∙ Uniprot:Q86XR7 ∙ 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 TICAM2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TICAM2 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 clinvar	1
missense			1 clinvar		1 clinvar	2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	2

Variants in TICAM2

This is a list of pathogenic ClinVar variants found in the TICAM2 region.

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

Position	Phenotype	Significance	ClinVar
5-115580654-T-G		Benign (Aug 16, 2018)	790566
5-115580986-C-G	not specified	Uncertain significance (Sep 25, 2023)	3177358
5-115581066-C-T		Benign (Aug 16, 2018)	790567

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TICAM2	protein_coding	protein_coding	ENST00000408996	4	47538

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00259	0.984	124520	0	72	124592	0.000289

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.831	171	204	0.836	0.0000100	2648
Missense in Polyphen		60	93.613	0.64094		1256
Synonymous	-0.327	83	79.3	1.05	0.00000398	765
Loss of Function	2.17	7	16.5	0.423	0.00000109	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000278	0.000278
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000570	0.0000544
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000443	0.000440
Middle Eastern	0.0000570	0.0000544
South Asian	0.000440	0.000425
Other	0.000328	0.000327

dbNSFP

Source: dbNSFP

Function: FUNCTION: Functions as sorting adapter in LPS-TLR4 signaling to regulate the MYD88-independent pathway during the innate immune response to LPS. Physically bridges TLR4 and TICAM1 and functionally transmits LPS-TRL4 signal to TICAM1; signaling is proposed to occur in early endosomes after endocytosis of TLR4. May also be involved in IL1-triggered NF-kappa-B activation, functioning upstream of IRAK1, IRAK2, TRAF6, and IKBKB; however, reports are controversial. Involved in IL-18 signaling and is proposed to function as a sorting adaptor for MYD88 in IL-18 signaling during adaptive immune response.;
Pathway: Pertussis - Homo sapiens (human);Necroptosis - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);Hepatitis B - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Toll-like Receptor Signaling;Fibrin Complement Receptor 3 Signaling Pathway;Toll-like Receptor Signaling Pathway;Neutrophil degranulation;Toll-Like Receptors Cascades;Ligand-dependent caspase activation;Caspase activation via extrinsic apoptotic signalling pathway;Innate Immune System;Immune System;Apoptosis;Programmed Cell Death;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;IKK complex recruitment mediated by RIP1;TRIF-mediated programmed cell death;TRAF6-mediated induction of TAK1 complex within TLR4 complex;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;IL1-mediated signaling events (Consensus)

Recessive Scores

pRec: 0.100

Intolerance Scores

loftool: 0.446
rvis_EVS: 0.39
rvis_percentile_EVS: 76.05

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.195
ghis: 0.455

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.611

Mouse Genome Informatics

Gene name: Ticam2
Phenotype: immune system phenotype;

Gene ontology

Biological process: MyD88-independent toll-like receptor signaling pathway;intracellular protein transport;endoplasmic reticulum to Golgi vesicle-mediated transport;inflammatory response;Golgi organization;I-kappaB kinase/NF-kappaB signaling;negative regulation of MyD88-independent toll-like receptor signaling pathway;toll-like receptor 4 signaling pathway;positive regulation of toll-like receptor 4 signaling pathway;TRIF-dependent toll-like receptor signaling pathway;TRAM-dependent toll-like receptor 4 signaling pathway;positive regulation of I-kappaB kinase/NF-kappaB signaling;neutrophil degranulation;innate immune response;necroptotic process;cellular response to lipopolysaccharide;apoptotic signaling pathway;positive regulation of interleukin-18-mediated signaling pathway
Cellular component: endoplasmic reticulum;endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;plasma membrane;endosome membrane;COPII-coated ER to Golgi transport vesicle;secretory granule membrane;early endosome membrane;late endosome membrane
Molecular function: protein binding