EFHC2

EFHC2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2Z13, 2Z14
Identifikatori
Aliasi	EFHC2
Vanjski ID-jevi	OMIM: 300817 MGI: 1921655 HomoloGene: 11863 GeneCards: EFHC2
Lokacija gena (čovjek)
Hrom.	Hromosom X
Kraj	44,343,672 bp
Lokacija gena (miš)
Hrom.	Hromosom X (miš)
Kraj	17,185,607 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • calcium ion binding;
Ćelijska komponenta	• Mikrotubula;
Biološki proces	• cellular response to leukemia inhibitory factor; • regulation of neuron projection development;
	Izvori:Amigo / QuickGO
Ortolozi
	80258
	74405
	ENSG00000183690
	ENSMUSG00000025038
	Q5JST6
	Q9D485
	NM_025184
	NM_028916
	NP_079460
	NP_083192
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

EF-šakin C-krajev domen-sadržavajući protein je protein koji je kod ljudi kodiran genom EFHC2.^[5]

Gen

EFHC2 nalazi se na negativnom lancu (čulni lanac) X hromosoma na poziciji p11.3. To je jedan od nekoliko odabranih gena sa dokazima in vitro, koji sugeriraju da mogućnos izbjegavanja inaktivacije X-a.^[6] EFHC2 obuhvata 195.796 baznih parova i susjed je gena NDP koji kodira protein Norriejeve bolesti. Preliminarni dokazi zasnovani na studijama povezanosti genoma našli su vezu sa SNP u intronu između egzona 13 i 14 iz EFHC2 sa izbjegavanjem oštećenja.^[7]

Transkript iRNK koji kodira protein EFHC2 ima 3.269 baznih parova. Prvih devedeset parova čine pet osnovnih neprevedenih regija, a posljednjih 1.913 baznih parova čine tri osnovne neprevedene regije.

Protein

Gen EFHC2 kodira protein od 749 aminokiselina, koji sadrži tri DM10 domene (InterPro: IPR006602 IPR006602) i tri motiva za vevanje kalcija EF-šake.^[5] Procijenjeno je da izoelektrična tačka EFHC2 kod ljudi iznosi 7,13.^[8] U odnosu na druge proteine u ljudi, EFHC2 ima manje alaninskih i veći broj tirozinskih ostataka i predviđa se da se nalazi u citoplazmi.^[9]^[10]

Tkivna distribucija

EFHC2 je široko izražen u centralnom nervnom sistemu, kao i u perifernim tkivima .^[11]

Klinički značaj

Srodni protein, EFHC1 kodiran je genom na hromosomu 6. Pretpostavlja se da su oba proteina uključena u razvoj epilepsije^[12]^[13] te da ovaj gen može biti povezan s prepoznavanjem straha kod osoba s Turnerovim sindromom.^[5] Mutacija u EFHC2 koja rezultira supstitucijom serina u tirozin na aminokiselinskom položaju 430 (S430Y) povezana je sa juvenilnom mioklonskom epilepsijom u njemačkom muškom stanovništvu.^[12] Pored toga, jednonukleotidni polimorfizam u EFHC2 korelira sa smanjenom sposobnošću pacijenata sa Turnerovim sindromom da prepoznaju strah u izrazu lica ;^[14] međutim, ovi nalazi ostaju kontroverzni.^[15]

Konzervacija kod ostalih vrsta

Vrsta	Uobičajeno ime	Pristupni broj proteina	Dužina sekvence	Identitet sekvence (%)	Sličnos sekvence (%)	Pristupni broj proteina iRNK	Godine nakon divergencije (milioni)
Pan troglodytes	Čimpanza	XP_003317486.1	749	99	100	XM_003317438.1	6,4
Rattus norvegicus	Pacov	NP_001100422.1	750	79	88	NM_001106952.1	94,4
Ailuropoda	Veliki panda	EFB16666.1	732	79	89	-	92,4
Canis lupus familiaris	Pripitomljeni pas	XP_538007.2	779	79	89	XM_538007.2	92,4
Bos taurus	Goveče	XP_002700247.1	733	77	89	XM_002700201.1	94,4
Mus musculus	Miš	NP_083192.2	750	76	87	NM_028916.4	94.4
Monodelphis domestica	Oposum	XP_001377972.1	755	67	82	XM_001377935.1	163.9
Gallus gallus	Kokoš	NP_001032918.1	764	65	81	NM_001037829.1	301,7
Xenopus (Silurana) tropicalis	Žaba	NP_001136133.1	741	63	79	NM_001142661.1	371,2
Danio rerio	Zebrica	NP_001032472.1	762	62	76	NM_001037395.1	400,1
Ciona intestinalis	Morska štrcaljka (Tunicata)	NP_001071886.1	741	62	80	NM_001078418.1	722,5
Saccoglossus kowalevskii	Žirnjak	XP_002735862.1	747	61	77	XM_002735816.1	891,8
Nematostella vectensis	Morska sasa	XP_001624761.1	736	60	77	XM_001624711.1	742,9
Strongylocentrotus purpuratus	Morski jež	XP_798540.1	744	59	72	XM_793447.2	792,4
Schistosoma mansoni	Trematoda	XP_002579977.1	767	56	73	XM_002579931.1	734,8
Amphimedon queenslandic	Spužva	XP_003389005.1	720	52	70	XM_003388957.1	782,7
Anopheles gambiae	Komarac	XP_558349.4	762	44	61	XM_558349.4	782,7
Camponotus floridanus	Mrav	EFN72623.1	762	41	62	-	782,7
Nasonia vitripennis	Draguljasta osa	XP_001603780.2	751	39	57	XM_001603730.2	782,7
Drosophila melanogaster	Voćna mušica	NP_611459	765	37	54	NM_137615.2	661,2

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000183690 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025038 - Ensembl, maj 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.
^ ^a ^b ^c "Entrez Gene: EF-hand domain (C-terminal) containing 2". Pristupljeno 7. 5. 2012.
^ 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.
^ ^a ^b 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.
^ 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 (maj 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.

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

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025038 - Ensembl, maj 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". Pristupljeno 7. 5. 2012.

[pmid21763416-6] 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.

[pmid19429002-7] 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.

[pmid10027275-8] 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.

[pmid1549558-9] 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.

[pmid9322029-10] 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_2007-11] 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.

[Gu_2005-12] 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.

[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 (maj 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.

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