Entity Details

Primary name SPEF2
Entity type gene
Source Source Link

Details

PrimaryID79925
RefseqGene
SymbolSPEF2
Namesperm flagellar 2
Chromosome5
Location5p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSPEF2_HUMAN

GO terms

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GOName
GO:0002177 manchette
GO:0003351 epithelial cilium movement involved in extracellular fluid movement
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0007283 spermatogenesis
GO:0007288 sperm axoneme assembly
GO:0036126 sperm flagellum
GO:0048705 skeletal system morphogenesis
GO:0048854 brain morphogenesis
GO:0060541 respiratory system development
GO:0097225 sperm midpiece

Diseases

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Disease IDSourceNameDescription
618751 OMIMSpermatogenic failure 43 (SPGF43)An autosomal recessive infertility disorder characterized by asthenospermia due to multiple morphologic abnormalities of sperm flagella, including short, absent, coiled, and bent flagella. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions

InteractorPartnerSourcesPublicationsLink
SPEF2TSC22D2BioGRID27337956 details
SPEF2CLUIntAct31413325 details
SPEF2DISC1IntAct31413325 details
SPEF2APOA1BioGRID, IntAct15174051 details
SPEF2KATNAL1IntAct26929214 details
SPEF2VIMBioGRID, IntAct30021884 details
SPEF2MYH9BioGRID, IntAct30021884 details
SPEF2H2BC14BioGRID, IntAct30021884 details
SPEF2MTDHBioGRID22199357 details