PDCL2 (phosducin like 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 132954
Gene name Phosducin like 2
Gene symbol PDCL2
Synonyms (NCBI Gene)
GCPHLP
Chromosome 4
Chromosome location 4q12
Summary This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been show
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0001675 Process Acrosome assembly IEA
GO:0001675 Process Acrosome assembly ISS
GO:0005737 Component Cytoplasm IBA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005783 Component Endoplasmic reticulum IEA
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
611676 29524 ENSG00000163440
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.
Q8N4E4
Protein name Phosducin-like protein 2
Protein function Essential for male fertility, spermiogenesis and acrosome formation.
PDB 3EVI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02114 Phosducin 8 → 235 Phosducin Domain
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:36253364, ECO:0000269|PubMed:36278277}.
Sequence
Sequence length 241
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 Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Male infertility Pathogenic rs1283572147 RCV004577393
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Neoplasms Associate 33426787
★★★★★
★☆☆☆☆
Found in Text Mining only