SPEF2 Gene Summary [Human]

Involved in sperm axoneme assembly. Located in sperm flagellum. Implicated in spermatogenic failure 43. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
SPEF2
Official Name
sperm flagellar 2 [Source:HGNC Symbol;Acc:HGNC:26293]
Ensembl ID
ENSG00000152582
Bio databases IDs NCBI: 79925 Ensembl: ENSG00000152582
Aliases sperm flagellar 2, cancer/testis antigen 122
Synonyms C230086A09Rik, CT122, KPL2, LOC100912019, sperm flagellar 2, SPGF43
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SPEF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • CH-like domain in sperm protein
  • zinc finger in transposases and transcription factors
  • NK
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Duchenne muscular dystrophy
  • COVID-19
  • spermatogenic failure 43
  • multiple sclerosis
  • primary ciliary dyskinesia
  • tonsillitis
regulated by
role in cell
  • assembly
  • movement

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cilia
  • manchette
  • Golgi Apparatus
  • cytosol
  • nuclear bodies
  • sperm midpiece
  • sperm tail

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SPEF2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • respiratory system development
  • spermatogenesis
  • epithelial cilium movement
  • brain morphogenesis
  • sperm axoneme assembly
  • skeletal system morphogenesis

Cellular Component

Where in the cell the gene product is active
  • sperm midpiece
  • cytoplasm
  • Golgi apparatus
  • extracellular region
  • sperm flagellum
  • manchette

Gene-Specific Assays for Results You Can Trust

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