GeneBe

TACC3

protein-coding

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

Gene summary

This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]

MANE transcript

NM_006342.3

Inheritance

—

ClinVar variants

U:173B:15

Top phenotype

Hereditary breast ovarian cancer syndrome

gnomAD constraint

pLI —, LoF o/e 0.47

Max pathogenic AF

—

Genomic locus

chr4:1,712,858-1,745,171

External References & Databases

Ensembl (ENSG00000013810)NCBI Gene (10460)OMIM (605303)HGNC:11524GenCCUniProt (Q9Y6A5)AlphaFoldClinVar (TACC3)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~32.3 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TACC3 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 161
not providedTotal: 10
Hereditary breast ovarian cancer syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006342.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
4
clinvar
1
clinvar
3
clinvar
 8
missense
164
clinvar
8
clinvar
3
clinvar
 175
nonsense
2
clinvar
 2
start loss
0
frameshift
2
clinvar
 2
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total0017396188
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 77 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_006342.3RefSeqNP_006333.115MANE Select
ENST00000313288.9EnsemblENSP00000326550.415MANE Select
NM_001410699.1RefSeqNP_001397628.114Standard
NM_001441304.1RefSeqNP_001428233.115Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • RNA transport - Homo sapiens (human)
  • Signal Transduction
  • NOTCH3 Activation and Transmission of Signal to the Nucleus
  • Signaling by NOTCH3
  • Signaling by NOTCH

Biological Process

  • microtubule cytoskeleton organization
  • mitotic spindle organization
  • metaphase/anaphase transition of mitotic cell cycle
  • cell population proliferation
  • cerebral cortex development

Molecular Function

  • protein binding

Cellular Component

  • spindle pole
  • cytoplasm
  • microtubule organizing center
  • cytosol
  • mitotic spindle

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000313288
Coding exons
15
Length
23672
Individuals with no LoFs
125700
Homozygous LoFs
0
Heterozygous LoFs
30
Defined
125730
p
0.000119
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.7855414921.100.00002855438
Missense (PolyPhen)110112.130.980961388
Synonymous-2.522612141.220.00001501673
Loss of Function2.941736.10.4710.00000154442

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000120.00012rare
Latino/Admixed American0.0000300.000029rare
Ashkenazi Jewish00.0absent
East Asian0.0000540.000054rare
Finnish00.0absent
European (Non-Finnish)0.000160.00016rare
South Asian0.000260.00026rare
Other00.0absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec
0.0735

Intolerance Scores

LoFtool
0.677
RVIS EVS
0.1
RVIS percentile EVS
60.76

Essentials

Essential (CRISPR)
E
Essential (CRISPR2)
E
Essential (gene trap)
E
Indispensability pred.
E
Indispensability score
0.783

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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