TUBG2

tubulin gamma 2, the group of Tubulins

Basic information

Region (hg38): 17:42659284-42667006

Links

ENSG00000037042

∙ NCBI:27175 ∙ OMIM:605785 ∙ HGNC:12419 ∙ Uniprot:Q9NRH3 ∙ 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 TUBG2 gene.

not_specified (32 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TUBG2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016437.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			33 clinvar			33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	35	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TUBG2	protein_coding	protein_coding	ENST00000251412	11	7702

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000121	0.990	125687	0	61	125748	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.44	167	283	0.591	0.0000173	2966
Missense in Polyphen		61	111.62	0.54652		1227
Synonymous	-1.18	133	117	1.14	0.00000734	873
Loss of Function	2.30	12	24.2	0.496	0.00000129	247

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000390	0.000387
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.000109	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000257	0.000255
Middle Eastern	0.000109	0.000109
South Asian	0.000490	0.000490
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation (By similarity). {ECO:0000250}.;
Pathway: Human papillomavirus infection - Homo sapiens (human);Recruitment of mitotic centrosome proteins and complexes;Centrosome maturation;G2/M Transition;Mitotic G2-G2/M phases;Recruitment of NuMA to mitotic centrosomes;Mitotic Prometaphase;M Phase;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Intolerance Scores

loftool: 0.479
rvis_EVS: -0.67
rvis_percentile_EVS: 15.76

Haploinsufficiency Scores

pHI: 0.201
hipred: Y
hipred_score: 0.785
ghis: 0.527

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.648

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Tubg2
Phenotype: normal phenotype;

Gene ontology

Biological process: mitotic sister chromatid segregation;meiotic spindle organization;microtubule cytoskeleton organization;mitotic cell cycle;microtubule-based process;microtubule nucleation;mitotic spindle organization;cytoplasmic microtubule organization
Cellular component: pericentriolar material;gamma-tubulin complex;nucleus;cytoplasm;centrosome;spindle;cytosol;microtubule;spindle microtubule;cytoplasmic microtubule;microtubule cytoskeleton
Molecular function: GTPase activity;structural molecule activity;structural constituent of cytoskeleton;GTP binding