EFHC2

EFHC2
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

2Z13, 2Z14

Identifikatori
AliasiEFHC2
Vanjski ID-jeviOMIM: 300817 MGI: 1921655 HomoloGene: 11863 GeneCards: EFHC2
Lokacija gena (čovjek)
Hromosom X
Hrom.Hromosom X[1]
Hromosom X
Genomska lokacija za EFHC2
Genomska lokacija za EFHC2
BendXp11.3Početak44,147,872 bp[1]
Kraj44,343,672 bp[1]
Lokacija gena (miš)
Hromosom X (miš)
Hrom.Hromosom X (miš)[2]
Hromosom X (miš)
Genomska lokacija za EFHC2
Genomska lokacija za EFHC2
BendX|X A1.2Početak16,998,288 bp[2]
Kraj17,185,607 bp[2]
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
VrsteČovjekMiš
Entrez

80258

74405

Ensembl

ENSG00000183690

ENSMUSG00000025038

UniProt

Q5JST6

Q9D485

RefSeq (mRNK)

NM_025184

NM_028916

RefSeq (bjelančevina)

NP_079460

NP_083192

Lokacija (UCSC)Chr X: 44.15 – 44.34 MbChr X: 17 – 17.19 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183690 - Ensembl, maj 2017
  2. ^ a b c 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.
  5. ^ a b c "Entrez Gene: EF-hand domain (C-terminal) containing 2". Pristupljeno 7. 5. 2012.
  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.
  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.
  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.
  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.
  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.
  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.
  12. ^ 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.
  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.
  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.
  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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