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Q5JST6

- EFHC2_HUMAN

UniProt

Q5JST6 - EFHC2_HUMAN

Protein

EF-hand domain-containing family member C2

Gene

EFHC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • Format
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (03 Oct 2006)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    EF-hand domain-containing family member C2
    Gene namesi
    Name:EFHC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:26233. EFHC2.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134938637.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 749749EF-hand domain-containing family member C2PRO_0000251703Add
    BLAST

    Proteomic databases

    PaxDbiQ5JST6.
    PRIDEiQ5JST6.

    PTM databases

    PhosphoSiteiQ5JST6.

    Expressioni

    Gene expression databases

    BgeeiQ5JST6.
    CleanExiHS_EFHC2.
    GenevestigatoriQ5JST6.

    Organism-specific databases

    HPAiHPA034492.

    Interactioni

    Protein-protein interaction databases

    BioGridi123203. 2 interactions.
    IntActiQ5JST6. 2 interactions.
    STRINGi9606.ENSP00000404232.

    Structurei

    Secondary structure

    1
    749
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi79 – 9113
    Beta strandi94 – 10714
    Turni108 – 1114
    Beta strandi112 – 1165
    Beta strandi128 – 1347
    Helixi149 – 1513
    Beta strandi157 – 1604
    Beta strandi163 – 1708
    Helixi172 – 1809

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2Z13X-ray1.84A71-190[»]
    2Z14X-ray1.68A71-190[»]
    ProteinModelPortaliQ5JST6.
    SMRiQ5JST6. Positions 71-189.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ5JST6.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini75 – 182108DM10 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini226 – 368143DM10 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini431 – 538108DM10 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini558 – 59336EF-handPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 3 DM10 domains.PROSITE-ProRule annotation
    Contains 1 EF-hand domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG282456.
    HOGENOMiHOG000265451.
    HOVERGENiHBG059646.
    InParanoidiQ5JST6.
    OMAiMEKDSYG.
    OrthoDBiEOG7BGHK3.
    PhylomeDBiQ5JST6.
    TreeFamiTF314504.

    Family and domain databases

    Gene3Di1.10.238.10. 1 hit.
    InterProiIPR010554. DUF1126.
    IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR006602. Uncharacterised_DM10.
    [Graphical view]
    PfamiPF06565. DUF1126. 3 hits.
    [Graphical view]
    SMARTiSM00676. DM10. 3 hits.
    [Graphical view]
    PROSITEiPS51336. DM10. 3 hits.
    PS50222. EF_HAND_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5JST6-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MALPLLPGNS FNRNVGKEKF HKSQHWGFCN NVMMLVSDEK PGIGGEPLLG    50
    QKIKPKCSIY PKGDGSDVPS WVAFDKQVLS FDAYLEEEVL DKSQTNYRIR 100
    YYKIYFYPED DTIQVNEPEV KNSGLLQGTS IRRHRITLPP PDEDQFYTVY 150
    HFNVGTEVVF YGRTFKIYDC DAFTRNFLRK IGVKVNPPVQ CPEDPYMKIR 200
    REVVEHVEPL RPYESLDTLK QFLQYHGKIL CFFCLWDDSV SMFGDRRELI 250
    LHYFLCDDTI EIKELLPHSS GRDALKMFLR RSKLPKNCPP RVYQPGQITD 300
    RAVLNSYGDF IKNQADGYLF DRYKLGKVDQ EFYKDSDLSL GVTINVWGRK 350
    VLLYDCDEFT KSYYKSKYGI ENFTSVSCKP PSPPPKIERK FPPYNGFGSE 400
    EDSLRNCIDL KPTPHRRNFK KFMEKDSYGS KSNILRFFAK LVTDKCVDLD 450
    RMFVISYYLG DDTISVFEPI ERNSGIAGGM FLKRSRVKKP GQEVFKSELS 500
    EYIKAEELYI GVTVNVNGYL FRLLNADEYT LNYMEQNTDK YPFSNLKLAL 550
    QKLKQEEGKS RELKQVFKAA DSKHTNMVDY NTFRDILMSL TVGNLAEQEF 600
    VTIARHYRVP EGTCSDMDFL IALAHEKFKK NMFENFDTFI YSCVYEDREK 650
    KNVLPTKDIK RLCKSSRLPL SDDLLESLLS RFEDSEKQID YKSFFSALNW 700
    RKNPVPELQP ASYLKERCED VWLGMPSPIP AKYIDYWTFL KDAFGLEEE 749
    Length:749
    Mass (Da):87,397
    Last modified:October 3, 2006 - v2
    Checksum:iD0FA50206BD7DB63
    GO
    Isoform 2 (identifier: Q5JST6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-587: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:162
    Mass (Da):19,042
    Checksum:iE66AF08801010298
    GO

    Sequence cautioni

    The sequence CAI40213.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAI42234.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti266 – 2661L → F in CAH18216. (PubMed:17974005)Curated
    Sequence conflicti643 – 6442CV → W in CAH18216. (PubMed:17974005)Curated
    Sequence conflicti705 – 7051V → A in BAB15413. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311N → S.
    Corresponds to variant rs17146914 [ dbSNP | Ensembl ].
    VAR_027698
    Natural varianti57 – 571C → Y.
    Corresponds to variant rs61636783 [ dbSNP | Ensembl ].
    VAR_061086
    Natural varianti208 – 2081E → K.
    Corresponds to variant rs7062352 [ dbSNP | Ensembl ].
    VAR_027699
    Natural varianti430 – 4301S → Y.1 Publication
    Corresponds to variant rs2208592 [ dbSNP | Ensembl ].
    VAR_027700
    Natural varianti507 – 5071E → Q.
    Corresponds to variant rs3747354 [ dbSNP | Ensembl ].
    VAR_027701

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 587587Missing in isoform 2. 1 PublicationVSP_020766Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK026254 mRNA. Translation: BAB15413.1.
    AL359744, AL133344 Genomic DNA. Translation: CAI40211.1.
    AL359744, AC018719, AL133344 Genomic DNA. Translation: CAI40213.1. Different initiation.
    AL133344, AL359744 Genomic DNA. Translation: CAI42232.1.
    AL133344, AC018719, AL359744 Genomic DNA. Translation: CAI42234.1. Different initiation.
    BC031039 mRNA. Translation: AAH31039.1.
    CR749363 mRNA. Translation: CAH18216.1.
    CCDSiCCDS55405.1. [Q5JST6-1]
    RefSeqiNP_079460.2. NM_025184.3. [Q5JST6-1]
    UniGeneiHs.521953.

    Genome annotation databases

    EnsembliENST00000420999; ENSP00000404232; ENSG00000183690. [Q5JST6-1]
    GeneIDi80258.
    KEGGihsa:80258.
    UCSCiuc004dgb.4. human. [Q5JST6-1]

    Polymorphism databases

    DMDMi115502163.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK026254 mRNA. Translation: BAB15413.1 .
    AL359744 , AL133344 Genomic DNA. Translation: CAI40211.1 .
    AL359744 , AC018719 , AL133344 Genomic DNA. Translation: CAI40213.1 . Different initiation.
    AL133344 , AL359744 Genomic DNA. Translation: CAI42232.1 .
    AL133344 , AC018719 , AL359744 Genomic DNA. Translation: CAI42234.1 . Different initiation.
    BC031039 mRNA. Translation: AAH31039.1 .
    CR749363 mRNA. Translation: CAH18216.1 .
    CCDSi CCDS55405.1. [Q5JST6-1 ]
    RefSeqi NP_079460.2. NM_025184.3. [Q5JST6-1 ]
    UniGenei Hs.521953.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2Z13 X-ray 1.84 A 71-190 [» ]
    2Z14 X-ray 1.68 A 71-190 [» ]
    ProteinModelPortali Q5JST6.
    SMRi Q5JST6. Positions 71-189.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123203. 2 interactions.
    IntActi Q5JST6. 2 interactions.
    STRINGi 9606.ENSP00000404232.

    PTM databases

    PhosphoSitei Q5JST6.

    Polymorphism databases

    DMDMi 115502163.

    Proteomic databases

    PaxDbi Q5JST6.
    PRIDEi Q5JST6.

    Protocols and materials databases

    DNASUi 80258.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000420999 ; ENSP00000404232 ; ENSG00000183690 . [Q5JST6-1 ]
    GeneIDi 80258.
    KEGGi hsa:80258.
    UCSCi uc004dgb.4. human. [Q5JST6-1 ]

    Organism-specific databases

    CTDi 80258.
    GeneCardsi GC0XM044007.
    HGNCi HGNC:26233. EFHC2.
    HPAi HPA034492.
    MIMi 300817. gene.
    neXtProti NX_Q5JST6.
    PharmGKBi PA134938637.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG282456.
    HOGENOMi HOG000265451.
    HOVERGENi HBG059646.
    InParanoidi Q5JST6.
    OMAi MEKDSYG.
    OrthoDBi EOG7BGHK3.
    PhylomeDBi Q5JST6.
    TreeFami TF314504.

    Miscellaneous databases

    EvolutionaryTracei Q5JST6.
    GeneWikii EFHC2.
    GenomeRNAii 80258.
    NextBioi 70713.
    PROi Q5JST6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q5JST6.
    CleanExi HS_EFHC2.
    Genevestigatori Q5JST6.

    Family and domain databases

    Gene3Di 1.10.238.10. 1 hit.
    InterProi IPR010554. DUF1126.
    IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR006602. Uncharacterised_DM10.
    [Graphical view ]
    Pfami PF06565. DUF1126. 3 hits.
    [Graphical view ]
    SMARTi SM00676. DM10. 3 hits.
    [Graphical view ]
    PROSITEi PS51336. DM10. 3 hits.
    PS50222. EF_HAND_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Small intestine.
    2. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 215-749 (ISOFORM 1).
      Tissue: Small intestine.
    5. "Crystal structure of the N-terminal DUF1126 in human EF-hand domain containing 2 protein."
      RIKEN structural genomics initiative (RSGI)
      Submitted (NOV-2007) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.68 ANGSTROMS) OF 71-190.
    6. "A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy."
      Gu W., Sander T., Heils A., Lenzen K.P., Steinlein O.K.
      Epilepsy Res. 66:91-98(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TYR-430.

    Entry informationi

    Entry nameiEFHC2_HUMAN
    AccessioniPrimary (citable) accession number: Q5JST6
    Secondary accession number(s): Q5JST8
    , Q68DK4, Q8NEI0, Q9H653
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2006
    Last sequence update: October 3, 2006
    Last modified: October 1, 2014
    This is version 88 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3