TRIB2

tribbles pseudokinase 2, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 2:12716910-12742734

Links

ENSG00000071575 ∙ NCBI:28951 ∙ OMIM:609462 ∙ HGNC:30809 ∙ Uniprot:Q92519 ∙ 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 TRIB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIB2 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						0
missense			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	17	0	1

Variants in TRIB2

This is a list of pathogenic ClinVar variants found in the TRIB2 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-12718345-G-A		not specified	Uncertain significance (Nov 19, 2022)
2-12718363-A-G		not specified	Uncertain significance (Jul 11, 2022)
2-12718368-A-G		not specified	Uncertain significance (Feb 13, 2024)
2-12718369-C-G		not specified	Uncertain significance (Dec 13, 2023)
2-12718383-G-C		not specified	Uncertain significance (Jun 03, 2022)
2-12718385-G-C		not specified	Uncertain significance (Sep 16, 2021)
2-12718395-A-G		not specified	Uncertain significance (Nov 21, 2022)
2-12718401-T-A		not specified	Uncertain significance (Aug 17, 2022)
2-12718486-G-C		not specified	Uncertain significance (Dec 05, 2022)
2-12718513-C-A		not specified	Uncertain significance (Feb 27, 2024)
2-12718537-G-A		not specified	Uncertain significance (Nov 09, 2023)
2-12718542-G-C		not specified	Uncertain significance (Nov 08, 2022)
2-12723293-G-T		not specified	Uncertain significance (Jul 09, 2021)
2-12723315-C-A		not specified	Uncertain significance (Apr 23, 2024)
2-12723545-G-A		not specified	Uncertain significance (May 30, 2024)
2-12723562-A-T			Benign (Jul 04, 2018)
2-12740393-G-A		not specified	Uncertain significance (Feb 12, 2024)
2-12740417-G-A		not specified	Uncertain significance (Sep 07, 2022)
2-12740534-G-A		not specified	Uncertain significance (Feb 28, 2024)
2-12740634-G-A		not specified	Uncertain significance (Jun 17, 2024)
2-12740702-G-A		not specified	Uncertain significance (Mar 23, 2022)
2-12740717-T-C		not specified	Uncertain significance (Apr 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIB2	protein_coding	protein_coding	ENST00000155926	3	25846

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.983	0.0165	125713	0	1	125714	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.71	141	211	0.669	0.0000128	2253
Missense in Polyphen		35	85.938	0.40727		883
Synonymous	-0.0617	93	92.2	1.01	0.00000578	692
Loss of Function	3.27	0	12.5	0.00	7.02e-7	141

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity). {ECO:0000250|UniProtKB:Q28283, ECO:0000250|UniProtKB:Q96RU8}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.0468
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

• pHI: 0.226
• hipred: Y
• hipred_score: 0.768
• ghis: 0.542

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.834

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trib2
• Phenotype: growth/size/body region phenotype; immune system phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: protein phosphorylation;negative regulation of protein kinase activity;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;regulation of MAP kinase activity;negative regulation of interleukin-10 biosynthetic process;negative regulation of fat cell differentiation
• Cellular component: nucleus;cytoplasm;cytoskeleton
• Molecular function: nucleotide binding;protein kinase activity;protein kinase inhibitor activity;transcription factor binding;mitogen-activated protein kinase kinase binding;ubiquitin protein ligase binding;ubiquitin-protein transferase regulator activity