| EFHC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | EFHC2 , MRX74, dJ1158H2.1, EF-hand domain containing 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300817 MGI: 1921655 HomoloGene: 11863 GeneCards: EFHC2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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EF-hand domain (C-terminal) containing 2 is a protein that in humans is encoded by the EFHC2 gene. [5] [6]
EFHC2 is located on the negative strand (sense strand) of the X chromosome at p11.3. EFHC2 is one of a few, select number of genes with in vitro evidence suggesting it escapes X inactivation. [7] EFHC2 spans 195,796 base pairs and is neighbored by NDP, the gene encoding for Norrie disease protein. Preliminary evidence based on genome wide association studies have linked a SNP in the intron between exons 13 and 14 of EFHC2 with harm avoidance. [8]
The mRNA transcript encoding the EFHC2 protein is 3,269 base pairs. The first ninety base pairs compose the five prime untranslated region and the last 1913 base pairs compose the three prime untranslated region.
The EFHC2 gene encodes a 749-amino acid protein which contains three DM10 domains (InterPro : IPR006602 ) and three calcium-binding EF-hand motifs. [5]
The isoelectric point of EFHC2 is estimated to be 7.13 in humans. [9] Relative to other proteins expressed in humans, EFHC2 has fewer alanine residues and a greater number of tyrosine residues and is predicted to reside in the cytoplasm. [10] [11]
EFHC2 is widely expressed in the central nervous system as well as peripheral tissues. [12]
A related protein, EFHC1 is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy [6] [13] and that this gene may be associated with fear recognition in individuals with Turner syndrome. [5]
A mutation in EFHC2 which results in a serine to a tyrosine substitution at amino acid position 430 (S430Y) has been associated with juvenile myoclonic epilepsy in a male, German population. [6] Additionally, a single nucleotide polymorphism in EFHC2 correlates to a reduced ability of Turner syndrome patients to recognize fear in facial expressions; [14] however, these findings remain controversial. [15]
| Species | Common Name | Protein Accession Number | Sequence Length | Sequence Identity (%) | Sequence Similarity (%) | mRNA Accession Number | Years Since Divergence (millions) |
|---|---|---|---|---|---|---|---|
| Pan troglodytes | chimpanzee | XP_003317486.1 | 749 | 99 | 100 | XM_003317438.1 | 6.4 |
| Rattus norvegicus | Rat | NP_001100422.1 | 750 | 79 | 88 | NM_001106952.1 | 94.4 |
| Ailuropoda | Giant Panda | EFB16666.1 | 732 | 79 | 89 | - | 92.4 |
| Canis lupus familiaris | Domesticated Dog | XP_538007.2 | 779 | 79 | 89 | XM_538007.2 | 92.4 |
| Bos taurus | Cow | XP_002700247.1 | 733 | 77 | 89 | XM_002700201.1 | 94.4 |
| Mus musculus | Mouse | NP_083192.2 | 750 | 76 | 87 | NM_028916.4 | 94.4 |
| Monodelphis domestica | Opossum | XP_001377972.1 | 755 | 67 | 82 | XM_001377935.1 | 163.9 |
| Gallus gallus | Chicken | NP_001032918.1 | 764 | 65 | 81 | NM_001037829.1 | 301.7 |
| Xenopus (Silurana) tropicalis | Frog | NP_001136133.1 | 741 | 63 | 79 | NM_001142661.1 | 371.2 |
| Danio rerio | Zebrafish | NP_001032472.1 | 762 | 62 | 76 | NM_001037395.1 | 400.1 |
| Ciona intestinalis | Sea Squirt | NP_001071886.1 | 741 | 62 | 80 | NM_001078418.1 | 722.5 |
| Saccoglossus kowalevskii | Acorn Worm | XP_002735862.1 | 747 | 61 | 77 | XM_002735816.1 | 891.8 |
| Nematostella vectensis | Sea Anemone | XP_001624761.1 | 736 | 60 | 77 | XM_001624711.1 | 742.9 |
| Strongylocentrotus purpuratus | Sea Urchin | XP_798540.1 | 744 | 59 | 72 | XM_793447.2 | 792.4 |
| Schistosoma mansoni | Trematode | XP_002579977.1 | 767 | 56 | 73 | XM_002579931.1 | 734.8 |
| Amphimedon queenslandic | Sponge | XP_003389005.1 | 720 | 52 | 70 | XM_003388957.1 | 782.7 |
| Anopheles gambiae | Mosquito | XP_558349.4 | 762 | 44 | 61 | XM_558349.4 | 782.7 |
| Camponotus floridanus | Ant | EFN72623.1 | 762 | 41 | 62 | - | 782.7 |
| Nasonia vitripennis | Jewel Wasp | XP_001603780.2 | 751 | 39 | 57 | XM_001603730.2 | 782.7 |
| Drosophila melanogaster | Fruit Fly | NP_611459 | 765 | 37 | 54 | NM_137615.2 | 661.2 |
Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a strong underlying genetic basis. IGE is considered a subgroup of Genetic Generalized Epilepsy (GGE). Patients with an IGE subtype are typically otherwise normal and have no structural brain abnormalities. People also often have a family history of epilepsy and seem to have a genetically predisposed risk of seizures. IGE tends to manifest itself between early childhood and adolescence although it can be eventually diagnosed later. The genetic cause of some IGE types is known, though inheritance does not always follow a simple monogenic mechanism.
Juvenile myoclonic epilepsy (JME), also known as Janz syndrome or impulsive petit mal, is a form of hereditary, idiopathic generalized epilepsy, representing 5–10% of all epilepsy cases. Typically it first presents between the ages of 12 and 18 with myoclonic seizures. These events typically occur after awakening from sleep, during the evening or when sleep-deprived. JME is also characterized by generalized tonic–clonic seizures, and a minority of patients have absence seizures. It was first described by Théodore Herpin in 1857. Understanding of the genetics of JME has been rapidly evolving since the 1990s, and over 20 chromosomal loci and multiple genes have been identified. Given the genetic and clinical heterogeneity of JME some authors have suggested that it should be thought of as a spectrum disorder.
Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.
Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor that in humans is encoded by the CHD7 gene.
Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ZEB2 gene. The ZEB2 protein is a transcription factor that plays a role in the transforming growth factor β (TGFβ) signaling pathways that are essential during early fetal development.
Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.
protein S6 kinase, 90kDa, polypeptide 3, also s RPS6KA3, is an enzyme that in humans is encoded by the RPS6KA3 gene.
Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene.
Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.
Homeobox protein Hox-A1 is a protein that in humans is encoded by the HOXA1 gene.
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.
EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.
PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.
Netrin-G1 is a protein that in humans is encoded by the NTNG1 gene.
Chloride intracellular channel protein 5 is a protein that in humans is encoded by the CLIC5 gene.
Chromodomain-helicase-DNA-binding protein 2 is an enzyme that in humans is encoded by the CHD2 gene.
Potassium voltage-gated channel subfamily V member 1 is a protein that in humans is encoded by the KCNV1 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
Gap junction delta-2 protein (GJD2), also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9), is a protein that in humans is encoded by the GJD2 gene.
N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.
TBC1 domain family, member 24 is a protein that in humans is encoded by the TBC1D24 gene.
