TPPP2

tubulin polymerization promoting protein family member 2, the group of Tubulin polymerization promoting proteins

Basic information

Region (hg38): 14:21024109-21036276

Previous symbols: [ "C14orf8" ]

Links

ENSG00000179636 ∙ NCBI:122664 ∙ OMIM:616956 ∙ HGNC:19293 ∙ Uniprot:P59282 ∙ 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 TPPP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TPPP2 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						0
missense			16			16
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	1

Variants in TPPP2

This is a list of pathogenic ClinVar variants found in the TPPP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-21030613-G-A		not specified	Uncertain significance (Jan 23, 2024)
14-21030729-G-A		not specified	Uncertain significance (Dec 28, 2022)
14-21030738-G-A		not specified	Uncertain significance (Feb 16, 2023)
14-21031022-G-A		not specified	Uncertain significance (Mar 06, 2023)
14-21031026-G-A		not specified	Uncertain significance (May 30, 2023)
14-21031035-C-T		not specified	Uncertain significance (Nov 07, 2023)
14-21031056-C-T		not specified	Uncertain significance (Aug 13, 2021)
14-21031065-A-T		not specified	Uncertain significance (Oct 02, 2023)
14-21031089-G-A		not specified	Uncertain significance (Aug 12, 2021)
14-21031143-A-G		not specified	Uncertain significance (Sep 23, 2023)
14-21031144-C-G		not specified	Uncertain significance (Dec 17, 2023)
14-21031959-A-C		not specified	Uncertain significance (Jan 20, 2023)
14-21031961-C-T		not specified	Uncertain significance (Jul 02, 2024)
14-21031970-G-C		not specified	Uncertain significance (Dec 21, 2023)
14-21032000-C-T		not specified	Uncertain significance (Jan 05, 2022)
14-21032001-G-A		not specified	Uncertain significance (Feb 22, 2023)
14-21032040-A-G		not specified	Uncertain significance (Dec 03, 2024)
14-21032059-C-G			Benign (Dec 31, 2019)
14-21033828-G-A		not specified	Uncertain significance (Oct 20, 2024)
14-21033889-G-A		not specified	Uncertain significance (Nov 28, 2023)
14-21033918-T-C		not specified	Uncertain significance (Aug 16, 2021)
14-21033930-G-C		not specified	Uncertain significance (May 01, 2024)
14-21033972-G-C		not specified	Uncertain significance (Jun 22, 2023)
14-21033976-C-G		not specified	Uncertain significance (Sep 26, 2024)
14-21033988-T-C		not specified	Uncertain significance (Jan 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TPPP2	protein_coding	protein_coding	ENST00000321760	3	12168

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0236	0.785	125500	0	245	125745	0.000975

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.242	111	104	1.07	0.00000615	1118
Missense in Polyphen		29	32.32	0.89729		415
Synonymous	-0.292	44	41.6	1.06	0.00000270	324
Loss of Function	0.958	3	5.40	0.555	3.10e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000261	0.000261
Ashkenazi Jewish	0.00	0.00
East Asian	0.000493	0.000489
Finnish	0.000555	0.000554
European (Non-Finnish)	0.00173	0.00172
Middle Eastern	0.000493	0.000489
South Asian	0.000361	0.000359
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May bind tubulin but has no microtubule bundling activity. {ECO:0000269|PubMed:17105200}.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.640
• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.99

Haploinsufficiency Scores

• pHI: 0.153
• hipred: N
• hipred_score: 0.231
• ghis: 0.413

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tppp2

Zebrafish Information Network

• Gene name: tppp2
• Affected structure: Rohon-Beard neuron
• Phenotype tag: abnormal
• Phenotype quality: decreased branchiness

Gene ontology

• Biological process: microtubule bundle formation;positive regulation of protein polymerization;microtubule polymerization
• Cellular component: cytosol;microtubule
• Molecular function: tubulin binding