Property Summary

NCBI Gene PubMed Count 11
Grant Count 1
Funding $46,826
PubMed Score 7.25
PubTator Score 8.96

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q5JST6 Q5JST8 Q68DK4 Q8NEI0 Q9H653
Symbols MRX74
dJ1158H2.1

Gene

 Grant Application (1)

PDB

2Z13   2Z14  

 GO Function (1)

 Compartment GO Term (0)

Gene RIF (8)

PMID Text
26107779 EFHC2 variation at SNP rs7055196 is associated with social cognitive abilities in males
19429002 This study found that the association between a variant in EFHC2 with the processing of fear and social threat and harm reduction.
19429002 Observational study of gene-disease association. (HuGE Navigator)
18187620 Knockdown of EF-hand domain (C-terminal) containing 2 (EFHC2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
17948898 no evidence of an association between rs7055196 genotype and fear recognition
17948898 Observational study of gene-disease association. (HuGE Navigator)
17164267 EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism.
16112844 An association with the gonosomal gene EFHC2 would be in accordance with the observed preponderance of maternal inheritance in juvenile myoclonic epilepsy maternal inheritance of juvenile myoclonic epilepsy.

AA Sequence

MALPLLPGNSFNRNVGKEKFHKSQHWGFCNNVMMLVSDEKPGIGGEPLLGQKIKPKCSIYPKGDGSDVPS      1 - 70
WVAFDKQVLSFDAYLEEEVLDKSQTNYRIRYYKIYFYPEDDTIQVNEPEVKNSGLLQGTSIRRHRITLPP     71 - 140
PDEDQFYTVYHFNVGTEVVFYGRTFKIYDCDAFTRNFLRKIGVKVNPPVQCPEDPYMKIRREVVEHVEPL    141 - 210
RPYESLDTLKQFLQYHGKILCFFCLWDDSVSMFGDRRELILHYFLCDDTIEIKELLPHSSGRDALKMFLR    211 - 280
RSKLPKNCPPRVYQPGQITDRAVLNSYGDFIKNQADGYLFDRYKLGKVDQEFYKDSDLSLGVTINVWGRK    281 - 350
VLLYDCDEFTKSYYKSKYGIENFTSVSCKPPSPPPKIERKFPPYNGFGSEEDSLRNCIDLKPTPHRRNFK    351 - 420
KFMEKDSYGSKSNILRFFAKLVTDKCVDLDRMFVISYYLGDDTISVFEPIERNSGIAGGMFLKRSRVKKP    421 - 490
GQEVFKSELSEYIKAEELYIGVTVNVNGYLFRLLNADEYTLNYMEQNTDKYPFSNLKLALQKLKQEEGKS    491 - 560
RELKQVFKAADSKHTNMVDYNTFRDILMSLTVGNLAEQEFVTIARHYRVPEGTCSDMDFLIALAHEKFKK    561 - 630
NMFENFDTFIYSCVYEDREKKNVLPTKDIKRLCKSSRLPLSDDLLESLLSRFEDSEKQIDYKSFFSALNW    631 - 700
RKNPVPELQPASYLKERCEDVWLGMPSPIPAKYIDYWTFLKDAFGLEEE                         701 - 749
//

Text Mined References (12)

PMID Year Title
26107779 2015 Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males.
25416956 2014 A proteome-scale map of the human interactome network.
19429002 2009 Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17948898 2008 EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.
17221867 2007 Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
17164267 2007 Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome.
16112844 A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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