TACC3

transforming acidic coiled-coil containing protein 3, the group of TACC family

Basic information

Region (hg38): 4:1712858-1745171

Links

ENSG00000013810 ∙ NCBI:10460 ∙ OMIM:605303 ∙ HGNC:11524 ∙ Uniprot:Q9Y6A5 ∙ 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 TACC3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TACC3 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	3	4
missense			68	3	3	74
nonsense			1			1
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					1	1
Total	0	0	69	4	8

Variants in TACC3

This is a list of pathogenic ClinVar variants found in the TACC3 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-1717190-G-A		not specified	Uncertain significance (Jun 28, 2022)
4-1717218-C-T		not specified	Uncertain significance (Jan 18, 2022)
4-1717242-G-A		not specified	Uncertain significance (Oct 02, 2023)
4-1717252-C-A		not specified	Uncertain significance (Aug 21, 2023)
4-1717254-A-G		not specified	Uncertain significance (Jul 30, 2023)
4-1717268-A-G		not specified	Uncertain significance (Sep 13, 2023)
4-1717394-C-G		not specified	Uncertain significance (Dec 15, 2023)
4-1717394-C-T		not specified	Uncertain significance (Dec 14, 2021)
4-1717418-G-A		not specified	Uncertain significance (Aug 13, 2021)
4-1717541-G-A		not specified	Uncertain significance (Oct 27, 2021)
4-1717559-G-A		not specified	Uncertain significance (Mar 17, 2023)
4-1717568-G-A		not specified	Uncertain significance (May 17, 2023)
4-1717664-G-C		not specified	Uncertain significance (Apr 25, 2023)
4-1717673-A-C		not specified	Uncertain significance (Jun 02, 2023)
4-1718171-C-G		not specified	Uncertain significance (May 04, 2022)
4-1718194-C-T		not specified	Uncertain significance (Jul 12, 2023)
4-1718227-T-A		not specified	Uncertain significance (Apr 07, 2022)
4-1718248-C-T		not specified	Likely benign (Oct 13, 2023)
4-1718249-G-A		not specified	Uncertain significance (Jul 17, 2023)
4-1718261-C-T		not specified	Uncertain significance (Jan 29, 2024)
4-1718276-C-A		not specified	Uncertain significance (Apr 09, 2024)
4-1718291-C-T		not specified	Uncertain significance (Jan 18, 2023)
4-1718299-C-T		not specified	Uncertain significance (Jan 23, 2023)
4-1718300-G-C		not specified	Uncertain significance (Aug 01, 2022)
4-1718303-A-G		not specified	Uncertain significance (Dec 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TACC3	protein_coding	protein_coding	ENST00000313288	15	23672

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.71e-7	0.999	125700	0	30	125730	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.785	541	492	1.10	0.0000285	5438
Missense in Polyphen		110	112.13	0.98096		1388
Synonymous	-2.52	261	214	1.22	0.0000150	1673
Loss of Function	2.94	17	36.1	0.471	0.00000154	442

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000153
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000160	0.000158
Middle Eastern	0.0000544	0.0000544
South Asian	0.000263	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:21297582, PubMed:23532825). May be involved in the control of cell growth and differentiation. May contribute to cancer (PubMed:14767476). {ECO:0000250|UniProtKB:Q9JJ11, ECO:0000269|PubMed:14767476, ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:23532825}.
• Pathway: RNA transport - Homo sapiens (human);Signal Transduction;NOTCH3 Activation and Transmission of Signal to the Nucleus;Signaling by NOTCH3;Signaling by NOTCH;Aurora A signaling;Integrin-linked kinase signaling (Consensus)

Recessive Scores

• pRec: 0.0735

Intolerance Scores

• loftool: 0.677
• rvis_EVS: 0.1
• rvis_percentile_EVS: 60.76

Haploinsufficiency Scores

• pHI: 0.603
• hipred: N
• hipred_score: 0.492
• ghis: 0.530

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.783

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tacc3
• Phenotype: endocrine/exocrine gland phenotype; growth/size/body region phenotype; craniofacial phenotype; immune system phenotype; cellular phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; embryo phenotype; neoplasm; 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; limbs/digits/tail phenotype; skeleton phenotype

Gene ontology

• Biological process: microtubule cytoskeleton organization;mitotic spindle organization;metaphase/anaphase transition of mitotic cell cycle;cell population proliferation;cerebral cortex development;cell division;regulation of mitotic spindle organization;microtubule cytoskeleton organization involved in mitosis
• Cellular component: spindle pole;cytoplasm;microtubule organizing center;cytosol;mitotic spindle
• Molecular function: protein binding