Wikipedia

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; OMA:EFHC2 - orthologs
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

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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

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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

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

Clinical significance

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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

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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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183690 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b c "Entrez Gene: EF-hand domain (C-terminal) containing 2". Retrieved 2012-05-07.
  6. ^ a b c 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. 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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