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    TPPP2 tubulin polymerization promoting protein family member 2 [ Homo sapiens (human) ]

    Gene ID: 122664, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TPPP2provided by HGNC
    Official Full Name
    tubulin polymerization promoting protein family member 2provided by HGNC
    Primary source
    HGNC:HGNC:19293
    See related
    Ensembl:ENSG00000179636 MIM:616956; AllianceGenome:HGNC:19293
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P18; CT152; C14orf8; p25beta
    Summary
    Enables tubulin binding activity. Involved in regulation of flagellated sperm motility. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 37.8) and salivary gland (RPKM 2.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See TPPP2 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21024299..21036352)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15221665..15233755)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21498376..21500974)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21467511-21468710 Neighboring gene solute carrier family 39 member 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21487674-21488873 Neighboring gene NDRG family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5576 Neighboring gene microRNA 6717 Neighboring gene ribonuclease A family member 13 (inactive) Neighboring gene ReSE screen-validated silencer GRCh37_chr14:21507297-21507461 Neighboring gene uncharacterized LOC105370398 Neighboring gene ribonuclease A family member 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Deficiency of TPPP2, a factor linked to oligoasthenozoospermia, causes subfertility in male mice. Zhu F, et al. J Cell Mol Med, 2019 Apr. PMID 30680919, Free PMC Article
    2. Tubulin polymerization promoting proteins (TPPPs): members of a new family with distinct structures and functions. Vincze O, et al. Biochemistry, 2006 Nov 21. PMID 17105200
    3. p25alpha Stimulates alpha-synuclein aggregation and is co-localized with aggregated alpha-synuclein in alpha-synucleinopathies. Lindersson E, et al. J Biol Chem, 2005 Feb 18. PMID 15590652
    4. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
    5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • AL161668.5

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT involved_in microtubule bundle formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    tubulin polymerization-promoting protein family member 2
    Names
    TPPP/p18
    protein p25-beta

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_173846.5 → NP_776245.2  tubulin polymerization-promoting protein family member 2

      See identical proteins and their annotated locations for NP_776245.2

      Status: VALIDATED

      Source sequence(s)
      AL161668, AW135537, BC038970, DB458250
      Consensus CDS
      CCDS9566.1
      UniProtKB/Swiss-Prot
      P59282, Q2VYF3
      Related
      ENSP00000317595.6, ENST00000321760.11
      Conserved Domains (1) summary
      pfam05517
      Location:6 → 161
      p25-alpha; p25-alpha

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      21024299..21036352
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020966.2 → XP_016876455.1  tubulin polymerization-promoting protein family member 2 isoform X1

      UniProtKB/Swiss-Prot
      P59282, Q2VYF3
      Conserved Domains (1) summary
      pfam05517
      Location:6 → 161
      p25-alpha; p25-alpha

    2. XM_011536416.2 → XP_011534718.1  tubulin polymerization-promoting protein family member 2 isoform X2

      UniProtKB/TrEMBL
      D6R9S2
      Related
      ENSP00000423171.1, ENST00000472458.5
      Conserved Domains (1) summary
      pfam05517
      Location:8 → 109
      p25-alpha; p25-alpha

    3. XM_011536420.3 → XP_011534722.1  tubulin polymerization-promoting protein family member 2 isoform X3

      See identical proteins and their annotated locations for XP_011534722.1

      UniProtKB/TrEMBL
      H0Y8L2
      Conserved Domains (1) summary
      pfam05517
      Location:8 → 109
      p25-alpha; p25-alpha

    4. XM_011536417.3 → XP_011534719.1  tubulin polymerization-promoting protein family member 2 isoform X3

      See identical proteins and their annotated locations for XP_011534719.1

      UniProtKB/TrEMBL
      H0Y8L2
      Conserved Domains (1) summary
      pfam05517
      Location:8 → 109
      p25-alpha; p25-alpha

    5. XM_011536418.2 → XP_011534720.1  tubulin polymerization-promoting protein family member 2 isoform X3

      See identical proteins and their annotated locations for XP_011534720.1

      UniProtKB/TrEMBL
      H0Y8L2
      Related
      ENSP00000421438.1, ENST00000481535.5
      Conserved Domains (1) summary
      pfam05517
      Location:8 → 109
      p25-alpha; p25-alpha

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      15221665..15233755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375353.1 → XP_054231328.1  tubulin polymerization-promoting protein family member 2 isoform X1

      UniProtKB/Swiss-Prot
      P59282, Q2VYF3

    2. XM_054375352.1 → XP_054231327.1  tubulin polymerization-promoting protein family member 2 isoform X1

      UniProtKB/Swiss-Prot
      P59282, Q2VYF3

    3. XM_054375354.1 → XP_054231329.1  tubulin polymerization-promoting protein family member 2 isoform X2

    4. XM_054375357.1 → XP_054231332.1  tubulin polymerization-promoting protein family member 2 isoform X3

    5. XM_054375355.1 → XP_054231330.1  tubulin polymerization-promoting protein family member 2 isoform X3

    6. XM_054375356.1 → XP_054231331.1  tubulin polymerization-promoting protein family member 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59282.2 GenPept UniProtKB/Swiss-Prot:P59282

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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