EF-Hand Domain (C-terminal) Containing 2 Protéines (EFHC2)

EFHC2 encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. De plus, nous expédions EFHC2 Anticorps (36) et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
Rat EFHC2 EFHC2 302507  
EFHC2 80258 Q5JST6
EFHC2 74405 Q9D485
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Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
Détails
Cellules d'insectes Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
Détails
Wheat germ Humain GST tag 2 μg Connectez-vous pour afficher 11 to 12 Days
$338.33
Détails

EFHC2 Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human ,
,
Mouse (Murine)

Plus protéines pour EF-Hand Domain (C-terminal) Containing 2 (EFHC2) partenaires d'interaction

Human EF-Hand Domain (C-terminal) Containing 2 (EFHC2) interaction partners

  1. Our observations provide new information on the genotype-phenotype relations of MAOA (Montrer MAOA Protéines)/B and EFHC2 genes involved in the contiguous deletions of Norrie disease.Based on the case of our observation, contiguous deletion with only one of the MAO genes (MAOB (Montrer MAOB Protéines)) may not cause psychomotor disability, and deletion of EFHC2may not contribute to epilepsy.

  2. In our series of 96 IGE patients and 96 healthy controls, there was no relation between S430Y polymorphism in EFHC2 gene and IGE presence.

  3. EFHC2 variation at SNP rs7055196 is associated with social cognitive abilities in males

  4. 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.

  5. EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism.

  6. This study found that the association between a variant in EFHC2 with the processing of fear and social threat and harm reduction.

Profil protéine EFHC2

Profil protéine

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome.

Gene names and symbols associated with EFHC2

  • EF-hand domain containing 2 (Efhc2)
  • EF-hand domain containing 2 (EFHC2)
  • EF-hand domain (C-terminal) containing 2 (Efhc2)
  • EF-hand domain (C-terminal) containing 2 (efhc2)
  • 4933407D04Rik Protéine
  • cb847 Protéine
  • dJ1158H2.1 Protéine
  • flj22843 Protéine
  • mRib72-2 Protéine
  • RGD1563388 Protéine
  • zgc:152706 Protéine

Protein level used designations for EFHC2

EF-hand domain-containing family member C2

GENE ID SPECIES
302507 Rattus norvegicus
80258 Homo sapiens
418559 Gallus gallus
74405 Mus musculus
567323 Danio rerio
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