TACC2

transforming acidic coiled-coil containing protein 2, the group of TACC family

Basic information

Region (hg38): 10:121989163-122254545

Links

ENSG00000138162NCBI:10579OMIM:605302HGNC:11523Uniprot:O95359AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TACC2 gene.

  • not_specified (422 variants)
  • not_provided (30 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TACC2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000206862.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
8
clinvar
2
clinvar
10
missense
377
clinvar
50
clinvar
7
clinvar
434
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 377 58 9
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TACC2protein_codingprotein_codingENST00000369005 22265372
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
4.82e-241.001257310171257480.0000676
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.39015931.64e+30.9730.000091018960
Missense in Polyphen363420.910.862425013
Synonymous-2.127656941.100.00004586281
Loss of Function4.21551010.5470.000005121267

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001810.000181
Ashkenazi Jewish0.00009920.0000992
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.00008830.0000879
Middle Eastern0.0001090.000109
South Asian0.000.00
Other0.000.00

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). May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker. {ECO:0000250, ECO:0000269|PubMed:10749935}.;

Recessive Scores

pRec
0.0831

Intolerance Scores

loftool
0.843
rvis_EVS
4.1
rvis_percentile_EVS
99.68

Haploinsufficiency Scores

pHI
0.161
hipred
N
hipred_score
0.492
ghis
0.439

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.476

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyHighMediumHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Tacc2
Phenotype
normal phenotype;

Gene ontology

Biological process
microtubule cytoskeleton organization;mitotic spindle organization;cell population proliferation;cerebral cortex development
Cellular component
nucleoplasm;cytoplasm;microtubule organizing center;cytosol;plasma membrane
Molecular function
nuclear hormone receptor binding