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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 154288
Gene name KH domain containing 3 like, subcortical maternal complex member
Gene symbol KHDC3L
Synonyms (NCBI Gene)
C6orf221ECAT1HYDM2
Chromosome 6
Chromosome location 6q13
Summary 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.
5
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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611687 33699 ENSG00000203908
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hydatidiform mole, recurrent, 2 Pathogenic; Likely pathogenic rs606231286, rs745776920, rs606231233, rs606231234 RCV000144944
RCV000190600
RCV000023914
RCV000023915
KHDC3L-related condition Pathogenic rs606231234 RCV004758598
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hydatidiform mole Benign rs561930 RCV001293272
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease 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