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Protein

EF-hand domain-containing family member C2

Gene

EFHC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33765-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:26233. EFHC2.

Pathology & Biotechi

Organism-specific databases

DisGeNETi80258.
OpenTargetsiENSG00000183690.
PharmGKBiPA134938637.

Polymorphism and mutation databases

BioMutaiEFHC2.
DMDMi115502163.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002517031 – 749EF-hand domain-containing family member C2Add BLAST749

Proteomic databases

PaxDbiQ5JST6.
PeptideAtlasiQ5JST6.
PRIDEiQ5JST6.

PTM databases

iPTMnetiQ5JST6.
PhosphoSitePlusiQ5JST6.

Expressioni

Gene expression databases

BgeeiENSG00000183690.
CleanExiHS_EFHC2.
GenevisibleiQ5JST6. HS.

Organism-specific databases

HPAiHPA034492.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
A8K9323EBI-2349927,EBI-10174671
Q8N5D43EBI-2349927,EBI-10266435
ARHGEF5Q127745EBI-2349927,EBI-602199
ARMC7Q9H6L43EBI-2349927,EBI-742909
CCDC120Q96HB5-43EBI-2349927,EBI-10185348
CCHCR1Q8TD31-35EBI-2349927,EBI-10175300
CLIC3O958333EBI-2349927,EBI-10192241
COPEO145795EBI-2349927,EBI-711301
EDC3Q96F865EBI-2349927,EBI-997311
EGLN3Q9H6Z93EBI-2349927,EBI-1175354
EMDP504023EBI-2349927,EBI-489887
JAKMIP2Q96AA83EBI-2349927,EBI-752007
LONRF1Q17RB85EBI-2349927,EBI-2341787
MAPK9P459845EBI-2349927,EBI-713568
NCDNQ9UBB65EBI-2349927,EBI-1053490
NCK2O436393EBI-2349927,EBI-713635
NDOR1Q9UHB43EBI-2349927,EBI-10249760
PBLDP300395EBI-2349927,EBI-750589
PLOD3O605685EBI-2349927,EBI-741582
PTK6Q138825EBI-2349927,EBI-1383632
RUNX1T1Q06455-43EBI-2349927,EBI-10224192
SNRNP25Q9BV905EBI-2349927,EBI-9675976
SPG21Q9NZD85EBI-2349927,EBI-742688
STK16O757163EBI-2349927,EBI-749295
TRIM42A1L4B63EBI-2349927,EBI-10172216
TSSK3Q96PN85EBI-2349927,EBI-3918381

Protein-protein interaction databases

BioGridi123203. 30 interactors.
IntActiQ5JST6. 95 interactors.
STRINGi9606.ENSP00000333823.

Structurei

Secondary structure

1749
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi79 – 91Combined sources13
Beta strandi94 – 107Combined sources14
Turni108 – 111Combined sources4
Beta strandi112 – 116Combined sources5
Beta strandi128 – 134Combined sources7
Helixi149 – 151Combined sources3
Beta strandi157 – 160Combined sources4
Beta strandi163 – 170Combined sources8
Helixi172 – 180Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2Z13X-ray1.84A71-190[»]
2Z14X-ray1.68A71-190[»]
ProteinModelPortaliQ5JST6.
SMRiQ5JST6.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ5JST6.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini75 – 182DM10 1PROSITE-ProRule annotationAdd BLAST108
Domaini226 – 368DM10 2PROSITE-ProRule annotationAdd BLAST143
Domaini431 – 538DM10 3PROSITE-ProRule annotationAdd BLAST108
Domaini558 – 593EF-handPROSITE-ProRule annotationAdd BLAST36

Sequence similaritiesi

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0043. Eukaryota.
ENOG410XQCQ. LUCA.
GeneTreeiENSGT00530000063528.
HOGENOMiHOG000265451.
HOVERGENiHBG059646.
InParanoidiQ5JST6.
OMAiHYFLCDD.
OrthoDBiEOG091G063X.
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. 4 hits.
[Graphical view]
SMARTiSM00676. DM10. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
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. AlignAdd to basket

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti266L → F in CAH18216 (PubMed:17974005).Curated1
Sequence conflicti643 – 644CV → W in CAH18216 (PubMed:17974005).Curated2
Sequence conflicti705V → A in BAB15413 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02769831N → S.Corresponds to variant rs17146914dbSNPEnsembl.1
Natural variantiVAR_06108657C → Y.Corresponds to variant rs61636783dbSNPEnsembl.1
Natural variantiVAR_027699208E → K.Corresponds to variant rs7062352dbSNPEnsembl.1
Natural variantiVAR_027700430S → Y.1 PublicationCorresponds to variant rs2208592dbSNPEnsembl.1
Natural variantiVAR_027701507E → Q.Corresponds to variant rs3747354dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0207661 – 587Missing in isoform 2. 1 PublicationAdd BLAST587

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5. human. [Q5JST6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2Z13X-ray1.84A71-190[»]
2Z14X-ray1.68A71-190[»]
ProteinModelPortaliQ5JST6.
SMRiQ5JST6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123203. 30 interactors.
IntActiQ5JST6. 95 interactors.
STRINGi9606.ENSP00000333823.

PTM databases

iPTMnetiQ5JST6.
PhosphoSitePlusiQ5JST6.

Polymorphism and mutation databases

BioMutaiEFHC2.
DMDMi115502163.

Proteomic databases

PaxDbiQ5JST6.
PeptideAtlasiQ5JST6.
PRIDEiQ5JST6.

Protocols and materials databases

DNASUi80258.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000420999; ENSP00000404232; ENSG00000183690. [Q5JST6-1]
GeneIDi80258.
KEGGihsa:80258.
UCSCiuc004dgb.5. human. [Q5JST6-1]

Organism-specific databases

CTDi80258.
DisGeNETi80258.
GeneCardsiEFHC2.
HGNCiHGNC:26233. EFHC2.
HPAiHPA034492.
MIMi300817. gene.
neXtProtiNX_Q5JST6.
OpenTargetsiENSG00000183690.
PharmGKBiPA134938637.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0043. Eukaryota.
ENOG410XQCQ. LUCA.
GeneTreeiENSGT00530000063528.
HOGENOMiHOG000265451.
HOVERGENiHBG059646.
InParanoidiQ5JST6.
OMAiHYFLCDD.
OrthoDBiEOG091G063X.
PhylomeDBiQ5JST6.
TreeFamiTF314504.

Enzyme and pathway databases

BioCyciZFISH:G66-33765-MONOMER.

Miscellaneous databases

EvolutionaryTraceiQ5JST6.
GeneWikiiEFHC2.
GenomeRNAii80258.
PROiQ5JST6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183690.
CleanExiHS_EFHC2.
GenevisibleiQ5JST6. HS.

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. 4 hits.
[Graphical view]
SMARTiSM00676. DM10. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS51336. DM10. 3 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 110 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.