TPPP

protein-coding

tubulin polymerization promoting protein, the group of Tubulin polymerization promoting proteins

Gene summary

Enables several functions, including GTPase activity; magnesium ion binding activity; and protein homodimerization activity. Involved in several processes, including microtubule cytoskeleton organization; negative regulation of tubulin deacetylation; and positive regulation of protein polymerization. Located in several cellular components, including cytoskeleton; cytosol; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_007030.3

Inheritance

—

ClinVar variants

U:39B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.29

Max pathogenic AF

—

Genomic locus

chr5:659,862-693,352

External References & Databases

Ensembl (ENSG00000171368)

Transcript & Mutation Effects

hg38 • Region Span ~33.5 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 TPPP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 38

not providedTotal: 15

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007030.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	5 clinvar	3 clinvar	11
missense			36 clinvar	2 clinvar	1 clinvar	39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	7	4	50

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007030.3	RefSeq	NP_008961.1	3	MANE Select
ENST00000360578.7	Ensembl	ENSP00000353785.5	3	MANE Select
ENST00000889051.1	Ensembl	ENSP00000559110.1	3	Standard
ENST00000889051.2	Ensembl	ENSP00000559110.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Regulation of Microtubule Cytoskeleton
Glial Cell Differentiation
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways

Biological Process

microtubule bundle formation
positive regulation of protein complex assembly
positive regulation of protein polymerization
microtubule polymerization

Molecular Function

protein binding
microtubule binding
tubulin binding

Cellular Component

nucleus
cytoplasm
mitochondrion
cytosol
microtubule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000360578
Coding exons: 3
Length: 32628
Individuals with no LoFs: 125524
Homozygous LoFs: 0
Heterozygous LoFs: 9
Defined: 125533
p: 0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.760	122	148	0.824	0.0000101	1402
Missense (PolyPhen)		32	54.776	0.5842		527
Synonymous	-0.995	82	71.3	1.15	0.00000581	443
Loss of Function	1.72	2	6.85	0.292	3.72e-7	85

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0.000065	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in the polymerization of tubulin into microtubules, microtubule bundling and the stabilization of existing microtubules, thus maintaining the integrity of the microtubule network. May play a role in mitotic spindle assembly and nuclear envelope breakdown. {ECO:0000269|PubMed:17105200, ECO:0000269|PubMed:17693641, ECO:0000269|PubMed:18028908}.;

Recessive Scores

pRec: 0.162

Intolerance Scores

LoFtool: 0.359
RVIS EVS: -0.32
RVIS percentile EVS: 31.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.684

Gene Damage Prediction

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