Q5JST6 (EFHC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
EF-hand domain-containing family member C2

Gene names

Name:

EFHC2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	749 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Domain	Repeat
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	calcium 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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 749

749

EF-hand domain-containing family member C2

PRO_0000251703

Regions

Domain

75 – 182

108

DM10 1

Domain

226 – 368

143

DM10 2

Domain

431 – 538

108

DM10 3

Domain

558 – 593

36

EF-hand

Natural variations

Alternative sequence

1 – 587

587

Missing in isoform 2.

VSP_020766

Natural variant

31

1

N → S.
Corresponds to variant rs17146914 [ dbSNP | Ensembl ].

VAR_027698

Natural variant

57

1

C → Y.
Corresponds to variant rs61636783 [ dbSNP | Ensembl ].

VAR_061086

Natural variant

208

1

E → K.
Corresponds to variant rs7062352 [ dbSNP | Ensembl ].

VAR_027699

Natural variant

430

1

S → Y. Ref.6
Corresponds to variant rs2208592 [ dbSNP | Ensembl ].

VAR_027700

Natural variant

507

1

E → Q.
Corresponds to variant rs3747354 [ dbSNP | Ensembl ].

VAR_027701

Experimental info

Sequence conflict

266

1

L → F in CAH18216. Ref.4

Sequence conflict

643 – 644

2

CV → W in CAH18216. Ref.4

Sequence conflict

705

1

V → A in BAB15413. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

749

Helix Strand Turn

Details...

Beta strand

79 – 91

13

Beta strand

94 – 107

14

Turn

108 – 111

4

Beta strand

112 – 116

5

Beta strand

128 – 134

7

Helix

149 – 151

3

Beta strand

157 – 160

4

Beta strand

163 – 170

8

Helix

172 – 180

9

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 3, 2006. Version 2. Checksum: D0FA50206BD7DB63	FASTA	749	87,397
	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
	Isoform 2 [UniParc]. Checksum: E66AF08801010298	FASTA	162	19,042
	10 20 30 40 50 60 MSLTVGNLAE QEFVTIARHY RVPEGTCSDM DFLIALAHEK FKKNMFENFD TFIYSCVYED 70 80 90 100 110 120 REKKNVLPTK DIKRLCKSSR LPLSDDLLES LLSRFEDSEK QIDYKSFFSA LNWRKNPVPE 130 140 150 160 LQPASYLKER CEDVWLGMPS PIPAKYIDYW TFLKDAFGLE EE

References

	« Hide 'large scale' referencesShow '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. , 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]	"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.

IPI

IPI00171599.
IPI00646148.

RefSeq

NP_079460.2. NM_025184.3.

UniGene

Hs.521953.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2Z13	X-ray	1.84	A	71-190	[»]
2Z14	X-ray	1.68	A	71-190	[»]

ProteinModelPortal

Q5JST6.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q5JST6. 2 interactions.

STRING

9606.ENSP00000404232.

PTM databases

PhosphoSite

Q5JST6.

Polymorphism databases

DMDM

115502163.

Proteomic databases

PaxDb

Q5JST6.

PRIDE

Q5JST6.

Protocols and materials databases

DNASU

80258.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000333807; ENSP00000333823; ENSG00000183690.
ENST00000343571; ENSP00000340643; ENSG00000183690.
ENST00000420999; ENSP00000404232; ENSG00000183690.

GeneID

80258.

KEGG

hsa:80258.

UCSC

uc004dgb.4. human.

Organism-specific databases

CTD

80258.

GeneCards

GC0XM044007.

HGNC

HGNC:26233. EFHC2.

HPA

HPA034492.

MIM

300817. gene.

neXtProt

NX_Q5JST6.

PharmGKB

PA134938637.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG282456.

HOGENOM

HOG000265451.

HOVERGEN

HBG059646.

InParanoid

Q5JST6.

OrthoDB

EOG4GF3F1.

Gene expression databases

ArrayExpress

Q5JST6.

Bgee

Q5JST6.

CleanEx

HS_EFHC2.

Genevestigator

Q5JST6.

GermOnline

ENSG00000183690. Homo sapiens.

Family and domain databases

Gene3D

1.10.238.10. 1 hit.

InterPro

IPR010554. DUF1126.
IPR011992. EF-hand-like_dom.
IPR002048. EF_hand_dom.
IPR006602. Uncharacterised_DM10.
[Graphical view]

Pfam

PF06565. DUF1126. 3 hits.
[Graphical view]

SMART

SM00676. DM10. 3 hits.
[Graphical view]

PROSITE

PS51336. DM10. 3 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q5JST6.

GenomeRNAi

80258.

NextBio

70713.

SOURCE

Search...

Entry information

Entry name

EFHC2_HUMAN

Accession

Primary (citable) accession number: Q5JST6
Secondary accession number(s): Q5JST8 , Q68DK4, Q8NEI0, Q9H653

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2006
Last sequence update:	October 3, 2006
Last modified:	May 1, 2013
This is version 76 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.