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 27-MAR-2024, entry version 158. 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] {ECO:0007744|PDB:7UNG} RP STRUCTURE BY ELECTRON MICROSCOPY (3.60 ANGSTROMS), FUNCTION, SUBCELLULAR RP LOCATION, AND TISSUE SPECIFICITY. RX PubMed=36191189; DOI=10.1073/pnas.2207605119; RA Gui M., Croft J.T., Zabeo D., Acharya V., Kollman J.M., Burgoyne T., RA Hoog J.L., Brown A.; RT "SPACA9 is a lumenal protein of human ciliary singlet and doublet RT microtubules."; RL Proc. Natl. Acad. Sci. U.S.A. 119:e2207605119-e2207605119(2022). RN [7] 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:0000269|PubMed:36191189}. 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; Q7L5A3: ATOSB; NbExp=3; IntAct=EBI-2349927, EBI-745689; 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; 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:0000269|PubMed:36191189}. 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; CC -!- TISSUE SPECIFICITY: Expressed in airway epithelial cells. CC {ECO:0000269|PubMed:36191189}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 PDB; 7UNG; EM; 3.60 A; W/X/Y/Z=1-749. DR PDB; 8J07; EM; 4.10 A; 3G/3H/3I/3J/3K/3L/3M=1-749. DR PDBsum; 2Z13; -. DR PDBsum; 2Z14; -. DR PDBsum; 7UNG; -. DR PDBsum; 8J07; -. DR AlphaFoldDB; Q5JST6; -. DR EMDB; EMD-26624; -. DR EMDB; EMD-35888; -. DR SMR; Q5JST6; -. DR BioGRID; 123203; 118. DR IntAct; Q5JST6; 105. DR STRING; 9606.ENSP00000404232; -. DR iPTMnet; Q5JST6; -. DR PhosphoSitePlus; Q5JST6; -. DR BioMuta; EFHC2; -. DR DMDM; 115502163; -. DR MassIVE; Q5JST6; -. DR PaxDb; 9606-ENSP00000404232; -. DR PeptideAtlas; Q5JST6; -. DR ProteomicsDB; 63171; -. [Q5JST6-1] DR ProteomicsDB; 63172; -. [Q5JST6-2] DR Antibodypedia; 25126; 104 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 AGR; HGNC:26233; -. 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; RFSCKQP; -. DR OrthoDB; 160134at2759; -. DR PhylomeDB; Q5JST6; -. DR TreeFam; TF314504; -. DR PathwayCommons; Q5JST6; -. DR SignaLink; Q5JST6; -. DR BioGRID-ORCS; 80258; 5 hits in 767 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 137 other cell types or tissues. DR GO; GO:0005879; C:axonemal microtubule; IDA:UniProtKB. DR GO; GO:0036064; C:ciliary basal body; IDA: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:0010975; P:regulation of neuron projection development; IBA:GO_Central. DR Gene3D; 2.30.29.170; -; 3. DR Gene3D; 1.10.238.10; EF-hand; 1. 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; EF-HAND DOMAIN C-TERMINAL CONTAINING PROTEIN; 1. DR PANTHER; PTHR12086:SF11; EF-HAND DOMAIN-CONTAINING FAMILY MEMBER C2; 1. DR Pfam; PF06565; DM10_dom; 4. DR SMART; SM00676; DM10; 3. DR SUPFAM; SSF47473; EF-hand; 1. DR PROSITE; PS51336; DM10; 3. DR PROSITE; PS50222; EF_HAND_2; 1. DR Genevisible; Q5JST6; HS. 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 //