TXNIP

thioredoxin interacting protein, the group of Alpha arrestins

Basic information

Region (hg38): 1:145992434-145996579

Links

ENSG00000265972 ∙ NCBI:10628 ∙ OMIM:606599 ∙ HGNC:16952 ∙ Uniprot:Q9H3M7 ∙ 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 TXNIP gene.

• Inborn genetic diseases (14 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TXNIP 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					2	2
missense			14		2	16
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	0	4

Variants in TXNIP

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

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

Position	Type	Phenotype	Significance	ClinVar
1-145993883-C-T		not specified	Uncertain significance (Dec 14, 2022)
1-145994029-G-A		not specified	Uncertain significance (Feb 22, 2023)
1-145994071-G-A		not specified	Uncertain significance (Jul 14, 2023)
1-145994078-C-T			Benign (Jul 31, 2018)
1-145994128-C-T			Benign (Jun 06, 2018)
1-145994148-A-G			Benign (Jun 06, 2018)
1-145994428-T-C		not specified	Uncertain significance (May 17, 2023)
1-145994437-T-C		not specified	Uncertain significance (Dec 14, 2023)
1-145994563-C-T		not specified	Uncertain significance (Jul 05, 2023)
1-145994567-G-A		not specified	Uncertain significance (Nov 29, 2023)
1-145994645-A-G		not specified	Uncertain significance (Jan 23, 2024)
1-145994685-C-A			Benign (Apr 10, 2018)
1-145994717-T-A		not specified	Uncertain significance (Nov 18, 2022)
1-145994723-G-A		not specified	Uncertain significance (Dec 01, 2022)
1-145994974-G-A		not specified	Uncertain significance (Mar 14, 2023)
1-145994998-A-T		not specified	Uncertain significance (Apr 19, 2023)
1-145995028-G-A		not specified	Uncertain significance (Feb 26, 2024)
1-145995216-G-C		not specified	Uncertain significance (May 26, 2022)
1-145995220-G-C		not specified	Uncertain significance (Apr 19, 2023)
1-145995221-G-A		not specified	Uncertain significance (Dec 13, 2023)
1-145995224-G-A		not specified	Uncertain significance (Nov 15, 2021)
1-145995250-T-C		not specified	Uncertain significance (Nov 03, 2022)
1-145996047-C-T		not specified	Uncertain significance (Jan 19, 2024)
1-145996112-G-C		not specified	Uncertain significance (Apr 25, 2022)
1-145996178-C-T		not specified	Uncertain significance (Apr 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as an oxidative stress mediator by inhibiting thioredoxin activity or by limiting its bioavailability. Interacts with COPS5 and restores COPS5-induced suppression of CDKN1B stability, blocking the COPS5-mediated translocation of CDKN1B from the nucleus to the cytoplasm. Functions as a transcriptional repressor, possibly by acting as a bridge molecule between transcription factors and corepressor complexes, and over- expression will induce G0/G1 cell cycle arrest. Required for the maturation of natural killer cells. Acts as a suppressor of tumor cell growth. Inhibits the proteasomal degradation of DDIT4, and thereby contributes to the inhibition of the mammalian target of rapamycin complex 1 (mTORC1). {ECO:0000269|PubMed:12821938, ECO:0000269|PubMed:17603038, ECO:0000269|PubMed:18541147, ECO:0000269|PubMed:21460850}.
• Pathway: NOD-like receptor signaling pathway - Homo sapiens (human);VEGFA-VEGFR2 Signaling Pathway;The NLRP3 inflammasome;Inflammasomes;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;Innate Immune System;Immune System;TNFalpha (Consensus)

Recessive Scores

• pRec: 0.295

Intolerance Scores

• loftool: 0.468
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.31

Haploinsufficiency Scores

• pHI: 0.193
• hipred: N
• hipred_score: 0.465

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.607

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Txnip
• Phenotype: muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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; vision/eye phenotype; digestive/alimentary phenotype; renal/urinary system phenotype; skeleton phenotype; immune system phenotype; liver/biliary system phenotype; neoplasm

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;protein import into nucleus;cell cycle;response to mechanical stimulus;response to glucose;keratinocyte differentiation;response to estradiol;response to progesterone;regulation of cell population proliferation;response to hydrogen peroxide;positive regulation of apoptotic process;negative regulation of catalytic activity;platelet-derived growth factor receptor signaling pathway;response to calcium ion;negative regulation of cell division;cellular response to tumor cell
• Cellular component: nucleus;cytoplasm;mitochondrial intermembrane space;cytosol
• Molecular function: enzyme inhibitor activity;protein binding;ubiquitin protein ligase binding