Entity Details

Primary name KHDC3L
Entity type gene
Source Source Link

Details

PrimaryID154288
RefseqGeneNG_031942
SymbolKHDC3L
NameKH domain containing 3 like, subcortical maternal complex member
Chromosome6
Location6q13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-24
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKHDC3_HUMAN

GO terms

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GOName
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005938 cell cortex
GO:0007015 actin filament organization
GO:0031297 replication fork processing
GO:0032880 regulation of protein localization
GO:0032991 protein-containing complex
GO:0040019 positive regulation of embryonic development
GO:0045179 apical cortex
GO:0051656 establishment of organelle localization
GO:0106333 subcortical maternal complex
GO:2000781 positive regulation of double-strand break repair

Diseases

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Disease IDSourceNameDescription
614293 OMIMHydatidiform mole, recurrent, 2 (HYDM2)A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
KHDC3LPLEKHF2IntAct32296183 details