TACC2

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

Basic information

Region (hg38): 10:121989163-122254545

Links

ENSG00000138162 ∙ NCBI:10579 ∙ OMIM:605302 ∙ HGNC:11523 ∙ Uniprot:O95359 ∙ 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 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				8	2	10
missense			377	50	7	434
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	377	58	9

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TACC2	protein_coding	protein_coding	ENST00000369005	22	265372

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.82e-24	1.00	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.390	1593	1.64e+3	0.973	0.0000910	18960
Missense in Polyphen		363	420.91	0.86242		5013
Synonymous	-2.12	765	694	1.10	0.0000458	6281
Loss of Function	4.21	55	101	0.547	0.00000512	1267

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000883	0.0000879
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
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). 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

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

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