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UniProtKB - Q5JST6 (EFHC2_HUMAN)
Protein
EF-hand domain-containing family member C2
Gene
EFHC2
Organism
Homo sapiens (Human)
Status
Functioni
GO - Molecular functioni
- alpha-tubulin binding Source: GO_Central
- calcium ion binding Source: InterPro
GO - Biological processi
- cellular response to leukemia inhibitory factor Source: Ensembl
- cilium-dependent cell motility Source: GO_Central
- mitotic cytokinesis Source: GO_Central
- mitotic spindle organization Source: GO_Central
- regulation of neuron projection development Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q5JST6 |
SignaLinki | Q5JST6 |
Names & Taxonomyi
Protein namesi | Recommended name: EF-hand domain-containing family member C2 |
Gene namesi | Name:EFHC2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26233, EFHC2 |
MIMi | 300817, gene |
neXtProti | NX_Q5JST6 |
VEuPathDBi | HostDB:ENSG00000183690 |
Subcellular locationi
Cytoskeleton
- axoneme Source: GO_Central
- ciliary basal body Source: GO_Central
- mitotic spindle Source: GO_Central
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 80258 |
OpenTargetsi | ENSG00000183690 |
PharmGKBi | PA134938637 |
Miscellaneous databases
Pharosi | Q5JST6, Tbio |
Genetic variation databases
BioMutai | EFHC2 |
DMDMi | 115502163 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000251703 | 1 – 749 | EF-hand domain-containing family member C2Add BLAST | 749 |
Proteomic databases
MassIVEi | Q5JST6 |
PaxDbi | Q5JST6 |
PeptideAtlasi | Q5JST6 |
PRIDEi | Q5JST6 |
ProteomicsDBi | 63171 [Q5JST6-1] 63172 [Q5JST6-2] |
PTM databases
iPTMneti | Q5JST6 |
PhosphoSitePlusi | Q5JST6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000183690, Expressed in bronchial epithelial cell and 169 other tissues |
Genevisiblei | Q5JST6, HS |
Organism-specific databases
HPAi | ENSG00000183690, Tissue enhanced (choroid plexus, fallopian tube) |
Interactioni
Binary interactionsi
Q5JST6
GO - Molecular functioni
- alpha-tubulin binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 123203, 117 interactors |
IntActi | Q5JST6, 105 interactors |
STRINGi | 9606.ENSP00000404232 |
Miscellaneous databases
RNActi | Q5JST6, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q5JST6 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q5JST6 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 75 – 182 | DM10 1PROSITE-ProRule annotationAdd BLAST | 108 | |
Domaini | 226 – 368 | DM10 2PROSITE-ProRule annotationAdd BLAST | 143 | |
Domaini | 431 – 538 | DM10 3PROSITE-ProRule annotationAdd BLAST | 108 | |
Domaini | 558 – 593 | EF-handPROSITE-ProRule annotationAdd BLAST | 36 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0043, Eukaryota |
GeneTreei | ENSGT00530000063528 |
HOGENOMi | CLU_018366_1_0_1 |
InParanoidi | Q5JST6 |
OMAi | SCVPDCT |
OrthoDBi | 236088at2759 |
PhylomeDBi | Q5JST6 |
TreeFami | TF314504 |
Family and domain databases
InterProi | View protein in InterPro IPR006602, DM10_dom IPR011992, EF-hand-dom_pair IPR002048, EF_hand_dom IPR040193, EFHC1/EFHC2/EFHB |
PANTHERi | PTHR12086, PTHR12086, 1 hit |
Pfami | View protein in Pfam PF06565, DUF1126, 4 hits |
SMARTi | View protein in SMART SM00676, DM10, 3 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS51336, DM10, 3 hits PS50222, EF_HAND_2, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q5JST6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 266 | L → F in CAH18216 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 643 – 644 | CV → W in CAH18216 (PubMed:17974005).Curated | 2 | |
Sequence conflicti | 705 | V → A in BAB15413 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027698 | 31 | N → S. Corresponds to variant dbSNP:rs17146914Ensembl. | 1 | |
Natural variantiVAR_061086 | 57 | C → Y. Corresponds to variant dbSNP:rs61636783EnsemblClinVar. | 1 | |
Natural variantiVAR_027699 | 208 | E → K. Corresponds to variant dbSNP:rs7062352Ensembl. | 1 | |
Natural variantiVAR_027700 | 430 | S → Y1 PublicationCorresponds to variant dbSNP:rs2208592Ensembl. | 1 | |
Natural variantiVAR_027701 | 507 | E → Q. Corresponds to variant dbSNP:rs3747354EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_020766 | 1 – 587 | Missing in isoform 2. 1 PublicationAdd BLAST | 587 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK026254 mRNA Translation: BAB15413.1 AC018719 Genomic DNA No translation available. AL133344 Genomic DNA No translation available. AL359744 Genomic DNA No translation available. BC031039 mRNA Translation: AAH31039.1 CR749363 mRNA Translation: CAH18216.1 |
CCDSi | CCDS55405.1 [Q5JST6-1] |
RefSeqi | NP_079460.2, NM_025184.3 [Q5JST6-1] |
Genome annotation databases
Ensembli | ENST00000420999; ENSP00000404232; ENSG00000183690 |
GeneIDi | 80258 |
KEGGi | hsa:80258 |
MANE-Selecti | ENST00000420999.2; ENSP00000404232.2; NM_025184.4; NP_079460.2 |
UCSCi | uc004dgb.5, human [Q5JST6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK026254 mRNA Translation: BAB15413.1 AC018719 Genomic DNA No translation available. AL133344 Genomic DNA No translation available. AL359744 Genomic DNA No translation available. BC031039 mRNA Translation: AAH31039.1 CR749363 mRNA Translation: CAH18216.1 |
CCDSi | CCDS55405.1 [Q5JST6-1] |
RefSeqi | NP_079460.2, NM_025184.3 [Q5JST6-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2Z13 | X-ray | 1.84 | A | 71-190 | [»] | |
2Z14 | X-ray | 1.68 | A | 71-190 | [»] | |
SMRi | Q5JST6 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123203, 117 interactors |
IntActi | Q5JST6, 105 interactors |
STRINGi | 9606.ENSP00000404232 |
PTM databases
iPTMneti | Q5JST6 |
PhosphoSitePlusi | Q5JST6 |
Genetic variation databases
BioMutai | EFHC2 |
DMDMi | 115502163 |
Proteomic databases
MassIVEi | Q5JST6 |
PaxDbi | Q5JST6 |
PeptideAtlasi | Q5JST6 |
PRIDEi | Q5JST6 |
ProteomicsDBi | 63171 [Q5JST6-1] 63172 [Q5JST6-2] |
Protocols and materials databases
Antibodypediai | 25126, 99 antibodies from 17 providers |
DNASUi | 80258 |
Genome annotation databases
Ensembli | ENST00000420999; ENSP00000404232; ENSG00000183690 |
GeneIDi | 80258 |
KEGGi | hsa:80258 |
MANE-Selecti | ENST00000420999.2; ENSP00000404232.2; NM_025184.4; NP_079460.2 |
UCSCi | uc004dgb.5, human [Q5JST6-1] |
Organism-specific databases
CTDi | 80258 |
DisGeNETi | 80258 |
GeneCardsi | EFHC2 |
HGNCi | HGNC:26233, EFHC2 |
HPAi | ENSG00000183690, Tissue enhanced (choroid plexus, fallopian tube) |
MIMi | 300817, gene |
neXtProti | NX_Q5JST6 |
OpenTargetsi | ENSG00000183690 |
PharmGKBi | PA134938637 |
VEuPathDBi | HostDB:ENSG00000183690 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0043, Eukaryota |
GeneTreei | ENSGT00530000063528 |
HOGENOMi | CLU_018366_1_0_1 |
InParanoidi | Q5JST6 |
OMAi | SCVPDCT |
OrthoDBi | 236088at2759 |
PhylomeDBi | Q5JST6 |
TreeFami | TF314504 |
Enzyme and pathway databases
PathwayCommonsi | Q5JST6 |
SignaLinki | Q5JST6 |
Miscellaneous databases
BioGRID-ORCSi | 80258, 3 hits in 662 CRISPR screens |
ChiTaRSi | EFHC2, human |
EvolutionaryTracei | Q5JST6 |
GeneWikii | EFHC2 |
GenomeRNAii | 80258 |
Pharosi | Q5JST6, Tbio |
PROi | PR:Q5JST6 |
RNActi | Q5JST6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183690, Expressed in bronchial epithelial cell and 169 other tissues |
Genevisiblei | Q5JST6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR006602, DM10_dom IPR011992, EF-hand-dom_pair IPR002048, EF_hand_dom IPR040193, EFHC1/EFHC2/EFHB |
PANTHERi | PTHR12086, PTHR12086, 1 hit |
Pfami | View protein in Pfam PF06565, DUF1126, 4 hits |
SMARTi | View protein in SMART SM00676, DM10, 3 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS51336, DM10, 3 hits PS50222, EF_HAND_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | EFHC2_HUMAN | |
Accessioni | Q5JST6Primary (citable) accession number: Q5JST6 Secondary accession number(s): Q5JST8 Q9H653 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 3, 2006 |
Last sequence update: | October 3, 2006 | |
Last modified: | February 23, 2022 | |
This is version 148 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references