EFHC2_HUMAN
ID EFHC2_HUMAN Reviewed; 749 AA.
AC Q5JST6; Q5JST8; Q68DK4; Q8NEI0; Q9H653;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=EF-hand domain-containing family member C2;
GN Name=EFHC2 {ECO:0000312|HGNC:HGNC:26233};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Small intestine;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 215-749 (ISOFORM 1).
RC TISSUE=Small intestine;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP X-RAY CRYSTALLOGRAPHY (1.68 ANGSTROMS) OF 71-190.
RG RIKEN structural genomics initiative (RSGI);
RT "Crystal structure of the N-terminal DUF1126 in human EF-hand domain
RT containing 2 protein.";
RL Submitted (NOV-2007) to the PDB data bank.
RN [6]
RP VARIANT TYR-430.
RX PubMed=16112844; DOI=10.1016/j.eplepsyres.2005.07.003;
RA Gu W., Sander T., Heils A., Lenzen K.P., Steinlein O.K.;
RT "A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for
RT association with juvenile myoclonic epilepsy.";
RL Epilepsy Res. 66:91-98(2005).
CC -!- FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated
CC doublet microtubules (DMTs) in cilia axoneme, which is required for
CC motile cilia beating. {ECO:0000250|UniProtKB:A0A3Q1N1R0}.
CC -!- INTERACTION:
CC Q5JST6; Q9NRN7: AASDHPPT; NbExp=3; IntAct=EBI-2349927, EBI-740884;
CC Q5JST6; Q12774: ARHGEF5; NbExp=6; IntAct=EBI-2349927, EBI-602199;
CC Q5JST6; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-2349927, EBI-742909;
CC Q5JST6; Q9NPB3: CABP2; NbExp=3; IntAct=EBI-2349927, EBI-12011224;
CC Q5JST6; O00305: CACNB4; NbExp=6; IntAct=EBI-2349927, EBI-714838;
CC Q5JST6; Q9H257-2: CARD9; NbExp=3; IntAct=EBI-2349927, EBI-11530605;
CC Q5JST6; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-2349927, EBI-10171570;
CC Q5JST6; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-2349927, EBI-744556;
CC Q5JST6; Q96HB5-4: CCDC120; NbExp=4; IntAct=EBI-2349927, EBI-10185348;
CC Q5JST6; Q8IYE1: CCDC13; NbExp=3; IntAct=EBI-2349927, EBI-10961312;
CC Q5JST6; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-2349927, EBI-10961624;
CC Q5JST6; Q8TD31-3: CCHCR1; NbExp=6; IntAct=EBI-2349927, EBI-10175300;
CC Q5JST6; O95833: CLIC3; NbExp=4; IntAct=EBI-2349927, EBI-10192241;
CC Q5JST6; O14579: COPE; NbExp=6; IntAct=EBI-2349927, EBI-711301;
CC Q5JST6; Q96FN4: CPNE2; NbExp=3; IntAct=EBI-2349927, EBI-7097057;
CC Q5JST6; Q9UBL6-2: CPNE7; NbExp=3; IntAct=EBI-2349927, EBI-12012272;
CC Q5JST6; O15075-2: DCLK1; NbExp=3; IntAct=EBI-2349927, EBI-12324841;
CC Q5JST6; P26196: DDX6; NbExp=3; IntAct=EBI-2349927, EBI-351257;
CC Q5JST6; Q8IY82: DRC7; NbExp=3; IntAct=EBI-2349927, EBI-10262896;
CC Q5JST6; Q96F86: EDC3; NbExp=7; IntAct=EBI-2349927, EBI-997311;
CC Q5JST6; Q5JVL4: EFHC1; NbExp=6; IntAct=EBI-2349927, EBI-743105;
CC Q5JST6; Q9H6Z9: EGLN3; NbExp=3; IntAct=EBI-2349927, EBI-1175354;
CC Q5JST6; P50402: EMD; NbExp=3; IntAct=EBI-2349927, EBI-489887;
CC Q5JST6; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-2349927, EBI-744099;
CC Q5JST6; P62508-3: ESRRG; NbExp=3; IntAct=EBI-2349927, EBI-12001340;
CC Q5JST6; Q9NQT4: EXOSC5; NbExp=3; IntAct=EBI-2349927, EBI-371876;
CC Q5JST6; Q9H5Z6-2: FAM124B; NbExp=3; IntAct=EBI-2349927, EBI-11986315;
CC Q5JST6; Q7L5A3: FAM214B; NbExp=3; IntAct=EBI-2349927, EBI-745689;
CC Q5JST6; A6H8Z2: FAM221B; NbExp=3; IntAct=EBI-2349927, EBI-12006844;
CC Q5JST6; Q6PCT2-2: FBXL19; NbExp=3; IntAct=EBI-2349927, EBI-11959077;
CC Q5JST6; P55040: GEM; NbExp=3; IntAct=EBI-2349927, EBI-744104;
CC Q5JST6; Q8IVS8: GLYCTK; NbExp=3; IntAct=EBI-2349927, EBI-748515;
CC Q5JST6; Q92805: GOLGA1; NbExp=3; IntAct=EBI-2349927, EBI-6164177;
CC Q5JST6; Q92917: GPKOW; NbExp=3; IntAct=EBI-2349927, EBI-746309;
CC Q5JST6; P62993: GRB2; NbExp=3; IntAct=EBI-2349927, EBI-401755;
CC Q5JST6; P13807: GYS1; NbExp=3; IntAct=EBI-2349927, EBI-740553;
CC Q5JST6; P56524-2: HDAC4; NbExp=3; IntAct=EBI-2349927, EBI-11953488;
CC Q5JST6; O14964: HGS; NbExp=3; IntAct=EBI-2349927, EBI-740220;
CC Q5JST6; Q15735: INPP5J; NbExp=3; IntAct=EBI-2349927, EBI-10236940;
CC Q5JST6; Q96AA8: JAKMIP2; NbExp=3; IntAct=EBI-2349927, EBI-752007;
CC Q5JST6; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-2349927, EBI-2556193;
CC Q5JST6; Q96MP8-2: KCTD7; NbExp=3; IntAct=EBI-2349927, EBI-11954971;
CC Q5JST6; Q969R5: L3MBTL2; NbExp=3; IntAct=EBI-2349927, EBI-739909;
CC Q5JST6; Q03252: LMNB2; NbExp=3; IntAct=EBI-2349927, EBI-2830427;
CC Q5JST6; P25791-3: LMO2; NbExp=3; IntAct=EBI-2349927, EBI-11959475;
CC Q5JST6; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-2349927, EBI-739832;
CC Q5JST6; Q17RB8: LONRF1; NbExp=6; IntAct=EBI-2349927, EBI-2341787;
CC Q5JST6; Q96A72: MAGOHB; NbExp=3; IntAct=EBI-2349927, EBI-746778;
CC Q5JST6; P45984: MAPK9; NbExp=7; IntAct=EBI-2349927, EBI-713568;
CC Q5JST6; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-2349927, EBI-10172526;
CC Q5JST6; Q8IVT2: MISP; NbExp=3; IntAct=EBI-2349927, EBI-2555085;
CC Q5JST6; Q8WY64: MYLIP; NbExp=3; IntAct=EBI-2349927, EBI-6952711;
CC Q5JST6; Q9ULV0-2: MYO5B; NbExp=3; IntAct=EBI-2349927, EBI-14093244;
CC Q5JST6; Q9UBB6: NCDN; NbExp=6; IntAct=EBI-2349927, EBI-1053490;
CC Q5JST6; O43639: NCK2; NbExp=3; IntAct=EBI-2349927, EBI-713635;
CC Q5JST6; Q9UHB4: NDOR1; NbExp=3; IntAct=EBI-2349927, EBI-10249760;
CC Q5JST6; Q9HC98-4: NEK6; NbExp=3; IntAct=EBI-2349927, EBI-11750983;
CC Q5JST6; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-2349927, EBI-10271199;
CC Q5JST6; Q9Y5B8: NME7; NbExp=3; IntAct=EBI-2349927, EBI-744782;
CC Q5JST6; P30039: PBLD; NbExp=7; IntAct=EBI-2349927, EBI-750589;
CC Q5JST6; O43189: PHF1; NbExp=3; IntAct=EBI-2349927, EBI-530034;
CC Q5JST6; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-2349927, EBI-14066006;
CC Q5JST6; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-2349927, EBI-79165;
CC Q5JST6; O60568: PLOD3; NbExp=12; IntAct=EBI-2349927, EBI-741582;
CC Q5JST6; O15160: POLR1C; NbExp=3; IntAct=EBI-2349927, EBI-1055079;
CC Q5JST6; Q99633: PRPF18; NbExp=3; IntAct=EBI-2349927, EBI-2798416;
CC Q5JST6; Q13882: PTK6; NbExp=7; IntAct=EBI-2349927, EBI-1383632;
CC Q5JST6; P47897: QARS1; NbExp=3; IntAct=EBI-2349927, EBI-347462;
CC Q5JST6; O75771: RAD51D; NbExp=3; IntAct=EBI-2349927, EBI-1055693;
CC Q5JST6; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-2349927, EBI-1504830;
CC Q5JST6; Q6P9E2: RECK; NbExp=3; IntAct=EBI-2349927, EBI-10253121;
CC Q5JST6; O94955: RHOBTB3; NbExp=3; IntAct=EBI-2349927, EBI-2367123;
CC Q5JST6; Q06455-4: RUNX1T1; NbExp=3; IntAct=EBI-2349927, EBI-10224192;
CC Q5JST6; Q9BV90: SNRNP25; NbExp=6; IntAct=EBI-2349927, EBI-9675976;
CC Q5JST6; O94964-4: SOGA1; NbExp=3; IntAct=EBI-2349927, EBI-14083835;
CC Q5JST6; Q8TC71: SPATA18; NbExp=3; IntAct=EBI-2349927, EBI-11334239;
CC Q5JST6; Q9NZD8: SPG21; NbExp=6; IntAct=EBI-2349927, EBI-742688;
CC Q5JST6; O75716: STK16; NbExp=3; IntAct=EBI-2349927, EBI-749295;
CC Q5JST6; Q86TI0: TBC1D1; NbExp=3; IntAct=EBI-2349927, EBI-1644036;
CC Q5JST6; Q9NU19: TBC1D22B; NbExp=3; IntAct=EBI-2349927, EBI-8787464;
CC Q5JST6; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-2349927, EBI-750487;
CC Q5JST6; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-2349927, EBI-5235829;
CC Q5JST6; Q86XT4: TRIM50; NbExp=3; IntAct=EBI-2349927, EBI-9867283;
CC Q5JST6; Q96PN8: TSSK3; NbExp=6; IntAct=EBI-2349927, EBI-3918381;
CC Q5JST6; P42681: TXK; NbExp=3; IntAct=EBI-2349927, EBI-7877438;
CC Q5JST6; Q01081: U2AF1; NbExp=3; IntAct=EBI-2349927, EBI-632461;
CC Q5JST6; O75604: USP2; NbExp=3; IntAct=EBI-2349927, EBI-743272;
CC Q5JST6; Q05516: ZBTB16; NbExp=3; IntAct=EBI-2349927, EBI-711925;
CC Q5JST6; Q15911-2: ZFHX3; NbExp=3; IntAct=EBI-2349927, EBI-10237226;
CC Q5JST6; Q8IYH5: ZZZ3; NbExp=3; IntAct=EBI-2349927, EBI-2795524;
CC Q5JST6; A8K932; NbExp=3; IntAct=EBI-2349927, EBI-10174671;
CC Q5JST6; Q8N5D4; NbExp=3; IntAct=EBI-2349927, EBI-10266435;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:A0A3Q1N1R0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5JST6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5JST6-2; Sequence=VSP_020766;
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DR EMBL; AK026254; BAB15413.1; -; mRNA.
DR EMBL; AC018719; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL133344; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL359744; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031039; AAH31039.1; -; mRNA.
DR EMBL; CR749363; CAH18216.1; -; mRNA.
DR CCDS; CCDS55405.1; -. [Q5JST6-1]
DR RefSeq; NP_079460.2; NM_025184.3. [Q5JST6-1]
DR PDB; 2Z13; X-ray; 1.84 A; A=71-190.
DR PDB; 2Z14; X-ray; 1.68 A; A=71-190.
DR PDBsum; 2Z13; -.
DR PDBsum; 2Z14; -.
DR AlphaFoldDB; Q5JST6; -.
DR SMR; Q5JST6; -.
DR BioGRID; 123203; 117.
DR IntAct; Q5JST6; 106.
DR STRING; 9606.ENSP00000404232; -.
DR iPTMnet; Q5JST6; -.
DR PhosphoSitePlus; Q5JST6; -.
DR BioMuta; EFHC2; -.
DR DMDM; 115502163; -.
DR MassIVE; Q5JST6; -.
DR PaxDb; Q5JST6; -.
DR PeptideAtlas; Q5JST6; -.
DR PRIDE; Q5JST6; -.
DR ProteomicsDB; 63171; -. [Q5JST6-1]
DR ProteomicsDB; 63172; -. [Q5JST6-2]
DR Antibodypedia; 25126; 99 antibodies from 17 providers.
DR DNASU; 80258; -.
DR Ensembl; ENST00000420999.2; ENSP00000404232.2; ENSG00000183690.13. [Q5JST6-1]
DR GeneID; 80258; -.
DR KEGG; hsa:80258; -.
DR MANE-Select; ENST00000420999.2; ENSP00000404232.2; NM_025184.4; NP_079460.2.
DR UCSC; uc004dgb.5; human. [Q5JST6-1]
DR CTD; 80258; -.
DR DisGeNET; 80258; -.
DR GeneCards; EFHC2; -.
DR HGNC; HGNC:26233; EFHC2.
DR HPA; ENSG00000183690; Tissue enhanced (choroid plexus, fallopian tube).
DR MIM; 300817; gene.
DR neXtProt; NX_Q5JST6; -.
DR OpenTargets; ENSG00000183690; -.
DR PharmGKB; PA134938637; -.
DR VEuPathDB; HostDB:ENSG00000183690; -.
DR eggNOG; KOG0043; Eukaryota.
DR GeneTree; ENSGT00530000063528; -.
DR HOGENOM; CLU_018366_1_0_1; -.
DR InParanoid; Q5JST6; -.
DR OMA; SCVPDCT; -.
DR OrthoDB; 236088at2759; -.
DR PhylomeDB; Q5JST6; -.
DR TreeFam; TF314504; -.
DR PathwayCommons; Q5JST6; -.
DR SignaLink; Q5JST6; -.
DR BioGRID-ORCS; 80258; 5 hits in 693 CRISPR screens.
DR ChiTaRS; EFHC2; human.
DR EvolutionaryTrace; Q5JST6; -.
DR GeneWiki; EFHC2; -.
DR GenomeRNAi; 80258; -.
DR Pharos; Q5JST6; Tbio.
DR PRO; PR:Q5JST6; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5JST6; protein.
DR Bgee; ENSG00000183690; Expressed in bronchial epithelial cell and 136 other tissues.
DR Genevisible; Q5JST6; HS.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:0036064; C:ciliary basal body; IDA:GO_Central.
DR GO; GO:0072686; C:mitotic spindle; IBA:GO_Central.
DR GO; GO:0043014; F:alpha-tubulin binding; IBA:GO_Central.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:1990830; P:cellular response to leukemia inhibitory factor; IEA:Ensembl.
DR GO; GO:0060285; P:cilium-dependent cell motility; IBA:GO_Central.
DR GO; GO:0000281; P:mitotic cytokinesis; IBA:GO_Central.
DR GO; GO:0007052; P:mitotic spindle organization; IBA:GO_Central.
DR GO; GO:0010975; P:regulation of neuron projection development; IBA:GO_Central.
DR InterPro; IPR006602; DM10_dom.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR040193; EFHC1/EFHC2/EFHB.
DR PANTHER; PTHR12086; PTHR12086; 1.
DR Pfam; PF06565; DUF1126; 4.
DR SMART; SM00676; DM10; 3.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS51336; DM10; 3.
DR PROSITE; PS50222; EF_HAND_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell projection; Cytoplasm;
KW Cytoskeleton; Reference proteome; Repeat.
FT CHAIN 1..749
FT /note="EF-hand domain-containing family member C2"
FT /id="PRO_0000251703"
FT DOMAIN 75..182
FT /note="DM10 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00665"
FT DOMAIN 226..368
FT /note="DM10 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00665"
FT DOMAIN 431..538
FT /note="DM10 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00665"
FT DOMAIN 558..593
FT /note="EF-hand"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT VAR_SEQ 1..587
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020766"
FT VARIANT 31
FT /note="N -> S (in dbSNP:rs17146914)"
FT /id="VAR_027698"
FT VARIANT 57
FT /note="C -> Y (in dbSNP:rs61636783)"
FT /id="VAR_061086"
FT VARIANT 208
FT /note="E -> K (in dbSNP:rs7062352)"
FT /id="VAR_027699"
FT VARIANT 430
FT /note="S -> Y (in dbSNP:rs2208592)"
FT /evidence="ECO:0000269|PubMed:16112844"
FT /id="VAR_027700"
FT VARIANT 507
FT /note="E -> Q (in dbSNP:rs3747354)"
FT /id="VAR_027701"
FT CONFLICT 266
FT /note="L -> F (in Ref. 4; CAH18216)"
FT /evidence="ECO:0000305"
FT CONFLICT 643..644
FT /note="CV -> W (in Ref. 4; CAH18216)"
FT /evidence="ECO:0000305"
FT CONFLICT 705
FT /note="V -> A (in Ref. 1; BAB15413)"
FT /evidence="ECO:0000305"
FT STRAND 79..91
FT /evidence="ECO:0007829|PDB:2Z14"
FT STRAND 94..107
FT /evidence="ECO:0007829|PDB:2Z14"
FT TURN 108..111
FT /evidence="ECO:0007829|PDB:2Z14"
FT STRAND 112..116
FT /evidence="ECO:0007829|PDB:2Z14"
FT STRAND 128..134
FT /evidence="ECO:0007829|PDB:2Z14"
FT HELIX 149..151
FT /evidence="ECO:0007829|PDB:2Z14"
FT STRAND 157..160
FT /evidence="ECO:0007829|PDB:2Z14"
FT STRAND 163..170
FT /evidence="ECO:0007829|PDB:2Z14"
FT HELIX 172..180
FT /evidence="ECO:0007829|PDB:2Z14"
SQ SEQUENCE 749 AA; 87397 MW; D0FA50206BD7DB63 CRC64;
MALPLLPGNS FNRNVGKEKF HKSQHWGFCN NVMMLVSDEK PGIGGEPLLG QKIKPKCSIY
PKGDGSDVPS WVAFDKQVLS FDAYLEEEVL DKSQTNYRIR YYKIYFYPED DTIQVNEPEV
KNSGLLQGTS IRRHRITLPP PDEDQFYTVY HFNVGTEVVF YGRTFKIYDC DAFTRNFLRK
IGVKVNPPVQ CPEDPYMKIR REVVEHVEPL RPYESLDTLK QFLQYHGKIL CFFCLWDDSV
SMFGDRRELI LHYFLCDDTI EIKELLPHSS GRDALKMFLR RSKLPKNCPP RVYQPGQITD
RAVLNSYGDF IKNQADGYLF DRYKLGKVDQ EFYKDSDLSL GVTINVWGRK VLLYDCDEFT
KSYYKSKYGI ENFTSVSCKP PSPPPKIERK FPPYNGFGSE EDSLRNCIDL KPTPHRRNFK
KFMEKDSYGS KSNILRFFAK LVTDKCVDLD RMFVISYYLG DDTISVFEPI ERNSGIAGGM
FLKRSRVKKP GQEVFKSELS EYIKAEELYI GVTVNVNGYL FRLLNADEYT LNYMEQNTDK
YPFSNLKLAL QKLKQEEGKS RELKQVFKAA DSKHTNMVDY NTFRDILMSL TVGNLAEQEF
VTIARHYRVP EGTCSDMDFL IALAHEKFKK NMFENFDTFI YSCVYEDREK KNVLPTKDIK
RLCKSSRLPL SDDLLESLLS RFEDSEKQID YKSFFSALNW RKNPVPELQP ASYLKERCED
VWLGMPSPIP AKYIDYWTFL KDAFGLEEE
