Property Summary

NCBI Gene PubMed Count 13
Grant Count 1
R01 Count 1
Funding $43,421.88
PubMed Score 13.55
PubTator Score 12.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.100 0.013

Synonym

Accession Q587J8 B2RNW7
Symbols ECAT1
HYDM2
C6orf221

Gene

 Grant Application (1)

 GO Function (1)

 Compartment GO Term (1)

Gene RIF (11)

PMID Text
25376457 No disease-causing mutations were identified in NLRP2, NLRP7 and KHDC3L in cohorts of unexplained infertility and recurrent pregnancy loss.
25358348 NLRP7 and KHDC3L localize to the cytoskeleton and are predominant at the cortical region in growing oocytes.
24215781 Data indicate there was no KHDC3L mutation found in recurrent and sporadic hydatidiform moles Chinese patients.
24105752 The absence of mutations in women with Androgenetic complete hydatidiform moles supports a role for NLRP7 or KHDC3L in Biparental hydatidiform moles only.
23963444 Investigation of the association between molar pregnancy and recurrent miscarriages regarding changes in the NLRP7 and C6orf221/KHDC3L genes.
23515668 these findings suggest that neither mutations nor variants in NLRP7 and C6orf221 are major factors contributing to the risk of these types of pregnancy complications.
23232697 Similarities between two recurrent hydatidiform moles (RHM) causative genes, KHDC3L and NLRP7, in their subcellular localization, parental contribution to the HM tissues caused by them, and the presence of several founder mutations.
23125094 Both NLRP7 and KHDC3L are involved in setting or maintaining the appropriate imprint within the ovum in women with familial recurrent hydatidiform mole.
22909446 Observations suggest that although NLRP7 and C6orf221 mutations are related to diploid biparental FRHMs, neither of these genes, nor NLRP2, are related to diploid HMs with biparental contributions to the molar genome.
21885028 Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
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AA Sequence

MDAPRRFPTLVQLMQPKAMPVEVLGHLPKRFSWFHSEFLKNPKVVRLEVWLVEKIFGRGGERIPHVQGMS      1 - 70
QILIHVNRLDPNGEAEILVFGRPSYQEDTIKMIMNLADYHRQLQAKGSGKALAQDVATQKAETQRSSIEV     71 - 140
REAGTQRSVEVREAGTQRSVEVQEVGTQGSPVEVQEAGTQQSLQAANKSGTQRSPEAASKAVTQRFREDA    141 - 210
RDPVTRL                                                                   211 - 217
//

Text Mined References (15)

PMID Year Title
26537248 2015 TLE6 mutation causes the earliest known human embryonic lethality.
25376457 2015 No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.
25358348 2015 NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.
24215781 Absence of KHDC3L mutations in Chinese patients with recurrent and sporadic hydatidiform moles.
24105752 2013 No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.
23963444 2013 NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.
23515668 2013 Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.
23232697 2013 Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.
23125094 2013 Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.
22909446 2012 Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.
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