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Q5JST6 (EFHC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
EF-hand domain-containing family member C2
Gene names
Name:EFHC2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length749 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Contains 3 DM10 domains.

Contains 1 EF-hand domain.

Sequence caution

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

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

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5JST6-1)

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.
Isoform 2 (identifier: Q5JST6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-587: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 749749EF-hand domain-containing family member C2
PRO_0000251703

Regions

Domain75 – 182108DM10 1
Domain226 – 368143DM10 2
Domain431 – 538108DM10 3
Domain558 – 59336EF-hand

Natural variations

Alternative sequence1 – 587587Missing in isoform 2.
VSP_020766
Natural variant311N → S.
Corresponds to variant rs17146914 [ dbSNP | Ensembl ].
VAR_027698
Natural variant571C → Y.
Corresponds to variant rs61636783 [ dbSNP | Ensembl ].
VAR_061086
Natural variant2081E → K.
Corresponds to variant rs7062352 [ dbSNP | Ensembl ].
VAR_027699
Natural variant4301S → Y. Ref.6
Corresponds to variant rs2208592 [ dbSNP | Ensembl ].
VAR_027700
Natural variant5071E → Q.
Corresponds to variant rs3747354 [ dbSNP | Ensembl ].
VAR_027701

Experimental info

Sequence conflict2661L → F in CAH18216. Ref.4
Sequence conflict643 – 6442CV → W in CAH18216. Ref.4
Sequence conflict7051V → A in BAB15413. Ref.1

Secondary structure

................. 749
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 3, 2006. Version 2.
Checksum: D0FA50206BD7DB63

FASTA74987,397
        10         20         30         40         50         60 
MALPLLPGNS FNRNVGKEKF HKSQHWGFCN NVMMLVSDEK PGIGGEPLLG QKIKPKCSIY 

        70         80         90        100        110        120 
PKGDGSDVPS WVAFDKQVLS FDAYLEEEVL DKSQTNYRIR YYKIYFYPED DTIQVNEPEV 

       130        140        150        160        170        180 
KNSGLLQGTS IRRHRITLPP PDEDQFYTVY HFNVGTEVVF YGRTFKIYDC DAFTRNFLRK 

       190        200        210        220        230        240 
IGVKVNPPVQ CPEDPYMKIR REVVEHVEPL RPYESLDTLK QFLQYHGKIL CFFCLWDDSV 

       250        260        270        280        290        300 
SMFGDRRELI LHYFLCDDTI EIKELLPHSS GRDALKMFLR RSKLPKNCPP RVYQPGQITD 

       310        320        330        340        350        360 
RAVLNSYGDF IKNQADGYLF DRYKLGKVDQ EFYKDSDLSL GVTINVWGRK VLLYDCDEFT 

       370        380        390        400        410        420 
KSYYKSKYGI ENFTSVSCKP PSPPPKIERK FPPYNGFGSE EDSLRNCIDL KPTPHRRNFK 

       430        440        450        460        470        480 
KFMEKDSYGS KSNILRFFAK LVTDKCVDLD RMFVISYYLG DDTISVFEPI ERNSGIAGGM 

       490        500        510        520        530        540 
FLKRSRVKKP GQEVFKSELS EYIKAEELYI GVTVNVNGYL FRLLNADEYT LNYMEQNTDK 

       550        560        570        580        590        600 
YPFSNLKLAL QKLKQEEGKS RELKQVFKAA DSKHTNMVDY NTFRDILMSL TVGNLAEQEF 

       610        620        630        640        650        660 
VTIARHYRVP EGTCSDMDFL IALAHEKFKK NMFENFDTFI YSCVYEDREK KNVLPTKDIK 

       670        680        690        700        710        720 
RLCKSSRLPL SDDLLESLLS RFEDSEKQID YKSFFSALNW RKNPVPELQP ASYLKERCED 

       730        740 
VWLGMPSPIP AKYIDYWTFL KDAFGLEEE 

« Hide

Isoform 2 [UniParc].

Checksum: E66AF08801010298
Show »

FASTA16219,042

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS55405.1. [Q5JST6-1]
RefSeqNP_079460.2. NM_025184.3. [Q5JST6-1]
UniGeneHs.521953.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2Z13X-ray1.84A71-190[»]
2Z14X-ray1.68A71-190[»]
ProteinModelPortalQ5JST6.
SMRQ5JST6. Positions 71-189.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123203. 2 interactions.
IntActQ5JST6. 2 interactions.
STRING9606.ENSP00000404232.

PTM databases

PhosphoSiteQ5JST6.

Polymorphism databases

DMDM115502163.

Proteomic databases

PaxDbQ5JST6.
PRIDEQ5JST6.

Protocols and materials databases

DNASU80258.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000420999; ENSP00000404232; ENSG00000183690. [Q5JST6-1]
GeneID80258.
KEGGhsa:80258.
UCSCuc004dgb.4. human. [Q5JST6-1]

Organism-specific databases

CTD80258.
GeneCardsGC0XM044007.
HGNCHGNC:26233. EFHC2.
HPAHPA034492.
MIM300817. gene.
neXtProtNX_Q5JST6.
PharmGKBPA134938637.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG282456.
HOGENOMHOG000265451.
HOVERGENHBG059646.
InParanoidQ5JST6.
OMAMEKDSYG.
OrthoDBEOG7BGHK3.
PhylomeDBQ5JST6.
TreeFamTF314504.

Gene expression databases

BgeeQ5JST6.
CleanExHS_EFHC2.
GenevestigatorQ5JST6.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR010554. DUF1126.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR006602. Uncharacterised_DM10.
[Graphical view]
PfamPF06565. DUF1126. 3 hits.
[Graphical view]
SMARTSM00676. DM10. 3 hits.
[Graphical view]
PROSITEPS51336. DM10. 3 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ5JST6.
GeneWikiEFHC2.
GenomeRNAi80258.
NextBio70713.
PROQ5JST6.
SOURCESearch...

Entry information

Entry nameEFHC2_HUMAN
AccessionPrimary (citable) accession number: Q5JST6
Secondary accession number(s): Q5JST8 expand/collapse secondary AC list , Q68DK4, Q8NEI0, Q9H653
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: July 9, 2014
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM