EFHC2

EF-hand domain (C-terminal) containing 2 is a protein that in humans is encoded by the EFHC2 gene.[5][6]

EFHC2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEFHC2, MRX74, dJ1158H2.1, EF-hand domain containing 2
External IDsOMIM: 300817 MGI: 1921655 HomoloGene: 11863 GeneCards: EFHC2
Orthologs
SpeciesHumanMouse
Entrez

80258

74405

Ensembl

ENSG00000183690

ENSMUSG00000025038

UniProt

Q5JST6

Q9D485

RefSeq (mRNA)

NM_025184

NM_028916

RefSeq (protein)

NP_079460

NP_083192

Location (UCSC)Chr X: 44.15 – 44.34 MbChr X: 17 – 17.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gene

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.

Protein
The schematic shows key features of the protein encoded by the EFHC2 gene in humans. "DUF" refers to "domain of unknown function."

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]

Tissue distribution

EFHC2 is widely expressed in the central nervous system as well as peripheral tissues.[12]

Clinical significance

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]

Conservation in other species
SpeciesCommon NameProtein Accession NumberSequence LengthSequence Identity (%)Sequence Similarity (%)mRNA Accession NumberYears Since Divergence (millions)
Pan troglodyteschimpanzeeXP_003317486.174999100XM_003317438.16.4
Rattus norvegicusRatNP_001100422.17507988NM_001106952.194.4
AiluropodaGiant PandaEFB16666.17327989-92.4
Canis lupus familiarisDomesticated DogXP_538007.27797989XM_538007.292.4
Bos taurusCowXP_002700247.17337789XM_002700201.194.4
Mus musculusMouseNP_083192.27507687NM_028916.494.4
Monodelphis domesticaOpossumXP_001377972.17556782XM_001377935.1163.9
Gallus gallusChickenNP_001032918.17646581NM_001037829.1301.7
Xenopus (Silurana) tropicalisFrogNP_001136133.17416379NM_001142661.1371.2
Danio rerioZebrafishNP_001032472.17626276NM_001037395.1400.1
Ciona intestinalisSea SquirtNP_001071886.17416280NM_001078418.1722.5
Saccoglossus kowalevskiiAcorn WormXP_002735862.17476177XM_002735816.1891.8
Nematostella vectensisSea AnemoneXP_001624761.17366077XM_001624711.1742.9
Strongylocentrotus purpuratusSea UrchinXP_798540.17445972XM_793447.2792.4
Schistosoma mansoniTrematodeXP_002579977.17675673XM_002579931.1734.8
Amphimedon queenslandicSpongeXP_003389005.17205270XM_003388957.1782.7
Anopheles gambiaeMosquitoXP_558349.47624461XM_558349.4782.7
Camponotus floridanusAntEFN72623.17624162-782.7
Nasonia vitripennisJewel WaspXP_001603780.27513957XM_001603730.2782.7
Drosophila melanogasterFruit FlyNP_6114597653754NM_137615.2661.2

References
  1. GRCh38: Ensembl release 89: ENSG00000183690 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025038 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: EF-hand domain (C-terminal) containing 2". Retrieved 2012-05-07.
  6. Gu W, Sander T, Heils A, Lenzen KP, Steinlein OK (2005). "A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy". Epilepsy Research. 66 (1–3): 91–8. doi:10.1016/j.eplepsyres.2005.07.003. PMID 16112844. S2CID 25572315.
  7. Castagné R, Zeller T, Rotival M, Szymczak S, Truong V, Schillert A, Trégouët DA, Münzel T, Ziegler A, Cambien F, Blankenberg S, Tiret L (Nov 2011). "Influence of sex and genetic variability on expression of X-linked genes in human monocytes". Genomics. 98 (5): 320–6. doi:10.1016/j.ygeno.2011.06.009. PMID 21763416.
  8. Blaya C, Moorjani P, Salum GA, Gonçalves L, Weiss LA, Leistner-Segal S, Manfro GG, Smoller JW (Mar 2009). "Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance". Neuroscience Letters. 452 (1): 84–6. doi:10.1016/j.neulet.2009.01.036. PMID 19429002. S2CID 39604977.
  9. Wilkins MR, Gasteiger E, Bairoch A, Sanchez JC, Williams KL, Appel RD, Hochstrasser DF (1999). "Protein identification and analysis tools in the ExPASy server". 2-D Proteome Analysis Protocols. Methods in Molecular Biology. Vol. 112. pp. 531–52. doi:10.1385/1-59259-584-7:531. ISBN 1-59259-584-7. PMID 10027275.
  10. Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S (Mar 1992). "Methods and algorithms for statistical analysis of protein sequences". Proceedings of the National Academy of Sciences of the United States of America. 89 (6): 2002–6. Bibcode:1992PNAS...89.2002B. doi:10.1073/pnas.89.6.2002. PMC 48584. PMID 1549558.
  11. Horton P, Nakai K (1997). "Better prediction of protein cellular localization sites with the k nearest neighbors classifier". Proceedings of the International Conference on Intelligent Systems for Molecular Biology. 5: 147–52. PMID 9322029.
  12. Weiss LA, Purcell S, Waggoner S, Lawrence K, Spektor D, Daly MJ, Sklar P, Skuse D (Jan 2007). "Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome". Human Molecular Genetics. 16 (1): 107–13. doi:10.1093/hmg/ddl445. PMID 17164267.
  13. Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K (Aug 2004). "Mutations in EFHC1 cause juvenile myoclonic epilepsy". Nature Genetics. 36 (8): 842–9. doi:10.1038/ng1393. PMID 15258581. S2CID 32916803.
  14. Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M (May 2007). "Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy". American Journal of Medical Genetics Part A. 143A (9): 916–20. doi:10.1002/ajmg.a.31521. PMID 17431911. S2CID 36917690.
  15. Zinn AR, Kushner H, Ross JL (Jun 2008). "EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome". American Journal of Medical Genetics Part B. 147B (4): 507–9. doi:10.1002/ajmg.b.30625. PMID 17948898. S2CID 36643937.
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