EFHC2

EFHC2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2Z13, 2Z14
Identifiers
Aliases	EFHC2, MRX74, dJ1158H2.1, EF-hand domain containing 2
External IDs	OMIM: 300817 MGI: 1921655 HomoloGene: 11863 GeneCards: EFHC2
Gene location (Human)
Chr.	X chromosome (human)[1]
End	44,343,672 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	17,319,368 bp[2]
Gene ontology
Molecular function	• GO:0001948 protein binding; • calcium ion binding;
Cellular component	• microtubule;
Biological process	• cellular response to leukemia inhibitory factor; • regulation of neuron projection development;
	Sources:Amigo / QuickGO
Orthologs
	80258
	74405
	ENSG00000183690
	ENSMUSG00000025038
	Q5JST6
	Q9D485
	NM_025184
	NM_028916
	NP_079460
	NP_083192
	Wikidata
View/Edit Human	View/Edit Mouse

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

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

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

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References

GRCh38: Ensembl release 89: ENSG00000183690 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000025038 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: EF-hand domain (C-terminal) containing 2". Retrieved 2012-05-07.
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.
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.
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.
Wilkins MR, Gasteiger E, Bairoch A, Sanchez JC, Williams KL, Appel RD, Hochstrasser DF (1999). "Protein identification and analysis tools in the ExPASy server". Methods in Molecular Biology. 112: 531–52. doi:10.1385/1-59259-584-7:531. PMID 10027275.
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.
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.
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.
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.
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.
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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000183690 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: EF-hand domain (C-terminal) containing 2". Retrieved 2012-05-07.

[Gu_2005-6] 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.

[pmid21763416-7] 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.

[pmid19429002-8] 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.

[pmid10027275-9] Wilkins MR, Gasteiger E, Bairoch A, Sanchez JC, Williams KL, Appel RD, Hochstrasser DF (1999). "Protein identification and analysis tools in the ExPASy server". Methods in Molecular Biology. 112: 531–52. doi:10.1385/1-59259-584-7:531. PMID 10027275.

[pmid1549558-10] 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.

[pmid9322029-11] 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.

[Weiss_2007-12] 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.

[pmid15258581-13] 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.

[pmid17431911-14] 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.

[pmid17948898-15] 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.