KHDC3L (KH domain containing 3 like, subcortical maternal complex member)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
154288
Gene name Gene Name - the full gene name approved by the HGNC.
KH domain containing 3 like, subcortical maternal complex member
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KHDC3L
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf221, ECAT1, HYDM2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q13
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may functi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs606231233 G>T Pathogenic Initiator codon variant, missense variant
rs606231234 GACT>- Pathogenic Frameshift variant, coding sequence variant
rs606231235 A>G Pathogenic Initiator codon variant, missense variant
rs606231286 TCAA>- Pathogenic Frameshift variant, coding sequence variant
rs745776920 C>T Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT018684 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 25542835, 26537248, 31609975, 32296183
GO:0005634 Component Nucleus IDA 25542835, 31609975
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611687 33699 ENSG00000203908
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q587J8
Protein name KH domain-containing protein 3 (ES cell-associated transcript 1 protein) (KHDC3-like protein)
Protein function Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development (By similarity). The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous str
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16005 MOEP19 29 → 114 KH-like RNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Expression appears to be maximal in germinal vesicle oocytes, it tails off through metaphase II oocytes and is undetectable following the completion of the oocyte to embryo transition. {ECO:0000269|PubMed:21885028}.
Sequence 
MDAPRRFPTLVQLMQPKAMPVEVLGHLPKRFSWFHSEFLKNPKVVRLEVWLVEKIFGRGG
ERIPHVQGMSQILIHVNRLDPNGEAEILVFGRPSYQEDTIKMIMNLADYHRQLQAKGSGK
ALAQDVATQKAETQRSSIEVREAGTQRSVEVREAGTQRSVEVQEVGTQGSPVEVQEAGTQ
QSLQAANKSGTQRSPEAASKAVTQRFREDARDPVTRL
Sequence length 217
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hydatidiform Mole hydatidiform mole, recurrent, 2 rs606231233, rs606231234, rs606231286, rs745776920 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Complete Hydatidiform Mole complete hydatidiform mole N/A N/A GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Beckwith Wiedemann Syndrome Associate 35643636
Birk Barel Mental Retardation Dysmorphism Syndrome Associate 35296332
Carcinoma Embryonal Associate 35946397
Chromosome Aberrations Associate 36001209
Diabetes Mellitus Type 2 Associate 35946397
Early Onset Glaucoma Associate 35946397
Gestational Trophoblastic Disease Associate 30235719
Hydatidiform Mole Stimulate 21885028
Hydatidiform Mole Associate 23232697, 25376457, 29463882, 29693651, 31847873, 32592075, 34608573, 35361411, 36001209
Pre Eclampsia Associate 35296332