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Aliases for KHDC3L Gene

Aliases for KHDC3L Gene

  • KH Domain Containing 3-Like, Subcortical Maternal Complex Member 2 3
  • C6orf221 3 4 6
  • ECAT1 3 4 6
  • ES Cell-Associated Transcript 1 Protein 3 4
  • HYDM2 3 6
  • Chromosome 6 Open Reading Frame 221 2
  • ES Cell Associated Transcript 1 2
  • KHDC3-Like Protein 3

External Ids for KHDC3L Gene

Previous HGNC Symbols for KHDC3L Gene

  • C6orf221

Previous GeneCards Identifiers for KHDC3L Gene

  • GC06P074073

Summaries for KHDC3L Gene

Entrez Gene Summary for KHDC3L 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 function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]

GeneCards Summary for KHDC3L Gene

KHDC3L (KH Domain Containing 3-Like, Subcortical Maternal Complex Member) is a Protein Coding gene. Diseases associated with KHDC3L include hydatidiform mole, recurrent, 2 and gestational trophoblastic neoplasm. An important paralog of this gene is OOEP.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KHDC3L Gene

Genomics for KHDC3L Gene

Genomic Location for KHDC3L Gene

Start:
73,362,671 bp from pter
End:
73,364,175 bp from pter
Size:
1,505 bases
Orientation:
Plus strand

Genomic View for KHDC3L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KHDC3L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHDC3L Gene

No data available for Regulatory Elements for KHDC3L Gene

Proteins for KHDC3L Gene

  • Protein details for KHDC3L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q587J8-KHD3L_HUMAN
    Recommended name:
    KHDC3-like protein
    Protein Accession:
    Q587J8
    Secondary Accessions:
    • B2RNW7

    Protein attributes for KHDC3L Gene

    Size:
    217 amino acids
    Molecular mass:
    24306 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KHDC3L Gene

Proteomics data for KHDC3L Gene at MOPED

Post-translational modifications for KHDC3L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KHDC3L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KHDC3L Gene

Domains for KHDC3L Gene

Protein Domains for KHDC3L Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q587J8

UniProtKB/Swiss-Prot:

KHD3L_HUMAN :
  • Q587J8
Domain:
  • Contains an atypical KH domain with amino acid changes at critical sites, suggesting that it may not bind RNA
  • Contains 1 KH domain.
Family:
  • Belongs to the KHDC1 family.
genes like me logo Genes that share domains with KHDC3L: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for KHDC3L Gene

Function for KHDC3L Gene

Gene Ontology (GO) - Molecular Function for KHDC3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with KHDC3L: view

Phenotypes for KHDC3L Gene

MGI mutant phenotypes for KHDC3L:
inferred from 1 alleles
GenomeRNAi human phenotypes for KHDC3L:
genes like me logo Genes that share phenotypes with KHDC3L: view

Animal Models for KHDC3L Gene

MGI Knock Outs for KHDC3L:

Animal Model Products

CRISPR Products

miRNA for KHDC3L Gene

miRTarBase miRNAs that target KHDC3L

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KHDC3L

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for KHDC3L Gene

Localization for KHDC3L Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for KHDC3L Gene

Pathways for KHDC3L Gene

SuperPathways for KHDC3L Gene

No Data Available

Gene Ontology (GO) - Biological Process for KHDC3L Gene

None

No data available for Pathways by source for KHDC3L Gene

Transcripts for KHDC3L Gene

mRNA/cDNA for KHDC3L Gene

(14) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KHDC3L Gene

KH domain containing 3-like, subcortical maternal complex member:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KHDC3L

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KHDC3L Gene

No ASD Table

Relevant External Links for KHDC3L Gene

GeneLoc Exon Structure for
KHDC3L
ECgene alternative splicing isoforms for
KHDC3L

Expression for KHDC3L Gene

mRNA expression in normal human tissues for KHDC3L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KHDC3L Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (8.5), Brain - Cerebellum (7.5), Brain - Hippocampus (4.3), Brain - Putamen (basal ganglia) (4.3), and Brain - Nucleus accumbens (basal ganglia) (4.2).

SOURCE GeneReport for Unigene cluster for KHDC3L Gene Hs.128326

mRNA Expression by UniProt/SwissProt for KHDC3L Gene

Q587J8-KHD3L_HUMAN
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.
genes like me logo Genes that share expressions with KHDC3L: view

In Situ Assay Products

No data available for Protein expression for KHDC3L Gene

Orthologs for KHDC3L Gene

This gene was present in the common ancestor of mammals.

Orthologs for KHDC3L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6H6ORF221 36
  • 99 (a)
OneToOne
KHDC3L 35
  • 99.08 (n)
  • 98.62 (a)
cow
(Bos Taurus)
Mammalia KHDC3L 35
  • 74.11 (n)
  • 62.33 (a)
KHDC3L 36
  • 48 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KHDC3L 36
  • 28 (a)
OneToOne
LOC481879 35
  • 72.03 (n)
  • 60.8 (a)
mouse
(Mus musculus)
Mammalia Gm20509 36
  • 22 (a)
OneToMany
Khdc3 35
  • 58.96 (n)
  • 42.92 (a)
Khdc3 16
Khdc3 36
  • 17 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Khdc3 35
  • 59.65 (n)
  • 41.15 (a)
Species with no ortholog for KHDC3L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KHDC3L Gene

ENSEMBL:
Gene Tree for KHDC3L (if available)
TreeFam:
Gene Tree for KHDC3L (if available)

Paralogs for KHDC3L Gene

Paralogs for KHDC3L Gene

Selected SIMAP similar genes for KHDC3L Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for KHDC3L Gene

genes like me logo Genes that share paralogs with KHDC3L: view

Variants for KHDC3L Gene

Sequence variations from dbSNP and Humsavar for KHDC3L Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs508770 -- 73,360,969(+) GAGTT(C/T)AAGCG upstream-variant-2KB
rs550423 -- 73,360,971(-) ATCGC(C/T)TGAAC upstream-variant-2KB
rs561930 - 73,363,808(+) CAAGG(C/G)AGTGA reference, missense, downstream-variant-500B
rs564533 - 73,363,214(-) GTCCT(C/G)CTGGT missense, reference
rs2295761 -- 73,364,162(+) AATAA(C/T)TGCAT utr-variant-3-prime

Relevant External Links for KHDC3L Gene

HapMap Linkage Disequilibrium report
KHDC3L
Human Gene Mutation Database (HGMD)
KHDC3L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KHDC3L Gene

Disorders for KHDC3L Gene

(1) OMIM Diseases for KHDC3L Gene (611687)

UniProtKB/Swiss-Prot

KHD3L_HUMAN
  • Hydatidiform mole, recurrent, 2 (HYDM2) [MIM:614293]: 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. {ECO:0000269 PubMed:21885028}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with KHDC3L: view

Publications for KHDC3L Gene

  1. Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. (PMID: 21885028) Parry D.A. … Sheridan E.G. (Am. J. Hum. Genet. 2011) 2 3 4
  2. The homeoprotein Nanog is required for maintenance of pluripotency in mouse epiblast and ES cells. (PMID: 12787504) Mitsui K. … Yamanaka S. (Cell 2003) 3 4
  3. Atypical structure and phylogenomic evolution of the new eutherian oocyte-and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family. (PMID: 17913455) Pierre A. … Monget P. (Genomics 2007) 3 4
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221. (PMID: 22909446) Andreasen L. … Sunde L. (Mol. Hum. Reprod. 2012) 3

Products for KHDC3L Gene

Sources for KHDC3L Gene

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