TPPP2 (tubulin polymerization promoting protein family member 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 122664
Gene name Tubulin polymerization promoting protein family member 2
Gene symbol TPPP2
Synonyms (NCBI Gene)
C14orf8CT152P18p25beta
Chromosome 14
Chromosome location 14q11.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0001578 Process Microtubule bundle formation IMP 17105200
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 17105200
GO:0005829 Component Cytosol IEA
GO:0005874 Component Microtubule IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616956 19293 ENSG00000179636
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P59282
Protein name Tubulin polymerization-promoting protein family member 2 (Protein p25-beta) (TPPP/p18)
Protein function Probable regulator of microtubule dynamics required for sperm motility (Probable). In contrast to other members of the family, has no microtubule bundling activity (PubMed:17105200).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05517 p25-alpha 6 → 161 p25-alpha Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in spermatids (PubMed:23436708). Detected in liver cancer (at protein level) (PubMed:23436708). {ECO:0000269|PubMed:23436708}.
Sequence
Sequence length 170
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EXOSTOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (48)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 8637234
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 7606004, 8637234
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 8637234
★★★★★
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 30020076
★★★★★
★☆☆☆☆
Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME Arterial Tortuosity Syndrome BEFREE 30073364
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 28689116
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 8397372
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27259808, 9636670
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 7606004, 8637234
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 30894510
★★★★★
★☆☆☆☆
Found in Text Mining only