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Q5JST6

- EFHC2_HUMAN

UniProt

Q5JST6 - EFHC2_HUMAN

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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

Functioni

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
Complete GO annotation...

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. 4 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.
GeneTreeiENSGT00530000063528.
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

        10         20         30         40         50
MALPLLPGNS FNRNVGKEKF HKSQHWGFCN NVMMLVSDEK PGIGGEPLLG
60 70 80 90 100
QKIKPKCSIY PKGDGSDVPS WVAFDKQVLS FDAYLEEEVL DKSQTNYRIR
110 120 130 140 150
YYKIYFYPED DTIQVNEPEV KNSGLLQGTS IRRHRITLPP PDEDQFYTVY
160 170 180 190 200
HFNVGTEVVF YGRTFKIYDC DAFTRNFLRK IGVKVNPPVQ CPEDPYMKIR
210 220 230 240 250
REVVEHVEPL RPYESLDTLK QFLQYHGKIL CFFCLWDDSV SMFGDRRELI
260 270 280 290 300
LHYFLCDDTI EIKELLPHSS GRDALKMFLR RSKLPKNCPP RVYQPGQITD
310 320 330 340 350
RAVLNSYGDF IKNQADGYLF DRYKLGKVDQ EFYKDSDLSL GVTINVWGRK
360 370 380 390 400
VLLYDCDEFT KSYYKSKYGI ENFTSVSCKP PSPPPKIERK FPPYNGFGSE
410 420 430 440 450
EDSLRNCIDL KPTPHRRNFK KFMEKDSYGS KSNILRFFAK LVTDKCVDLD
460 470 480 490 500
RMFVISYYLG DDTISVFEPI ERNSGIAGGM FLKRSRVKKP GQEVFKSELS
510 520 530 540 550
EYIKAEELYI GVTVNVNGYL FRLLNADEYT LNYMEQNTDK YPFSNLKLAL
560 570 580 590 600
QKLKQEEGKS RELKQVFKAA DSKHTNMVDY NTFRDILMSL TVGNLAEQEF
610 620 630 640 650
VTIARHYRVP EGTCSDMDFL IALAHEKFKK NMFENFDTFI YSCVYEDREK
660 670 680 690 700
KNVLPTKDIK RLCKSSRLPL SDDLLESLLS RFEDSEKQID YKSFFSALNW
710 720 730 740
RKNPVPELQP ASYLKERCED VWLGMPSPIP AKYIDYWTFL KDAFGLEEE
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. 4 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.
GeneTreei ENSGT00530000063528.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 89 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