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Entry version 139 (22 Apr 2020)
Sequence version 2 (03 Oct 2006)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
EF-hand domain-containing family member C2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EFHC2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26233 EFHC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300817 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5JST6

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
80258

Open Targets

More...
OpenTargetsi
ENSG00000183690

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134938637

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5JST6 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EFHC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
115502163

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002517031 – 749EF-hand domain-containing family member C2Add BLAST749

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5JST6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5JST6

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5JST6

PeptideAtlas

More...
PeptideAtlasi
Q5JST6

PRoteomics IDEntifications database

More...
PRIDEi
Q5JST6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
63171 [Q5JST6-1]
63172 [Q5JST6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5JST6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5JST6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000183690 Expressed in bronchial epithelial cell and 143 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5JST6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000183690 Tissue enhanced (brain, fallopian tube)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q5JST6
With#Exp.IntAct
A8K9323EBI-2349927,EBI-10174671
Q8N5D43EBI-2349927,EBI-10266435
AASDHPPT [Q9NRN7]3EBI-2349927,EBI-740884
ARHGEF5 [Q12774]6EBI-2349927,EBI-602199
ARMC7 [Q9H6L4]3EBI-2349927,EBI-742909
CABP2 [Q9NPB3]3EBI-2349927,EBI-12011224
CACNB4 [O00305]6EBI-2349927,EBI-714838
CARD9 - isoform 2 [Q9H257-2]3EBI-2349927,EBI-11530605
CCDC102B [Q68D86]3EBI-2349927,EBI-10171570
CCDC120 [Q96HB5]3EBI-2349927,EBI-744556
CCDC120 - isoform 4 [Q96HB5-4]4EBI-2349927,EBI-10185348
CCDC13 [Q8IYE1]3EBI-2349927,EBI-10961312
CCDC57 - isoform 2 [Q2TAC2-2]3EBI-2349927,EBI-10961624
CCHCR1 - isoform 3 [Q8TD31-3]6EBI-2349927,EBI-10175300
CLIC3 [O95833]4EBI-2349927,EBI-10192241
COPE [O14579]6EBI-2349927,EBI-711301
CPNE2 [Q96FN4]3EBI-2349927,EBI-7097057
CPNE7 - isoform 2 [Q9UBL6-2]3EBI-2349927,EBI-12012272
DCLK1 - isoform 1 [O15075-2]3EBI-2349927,EBI-12324841
DDX6 [P26196]3EBI-2349927,EBI-351257
DRC7 [Q8IY82]3EBI-2349927,EBI-10262896
EDC3 [Q96F86]7EBI-2349927,EBI-997311
EFHC1 [Q5JVL4]6EBI-2349927,EBI-743105
EGLN3 [Q9H6Z9]3EBI-2349927,EBI-1175354
EMD [P50402]3EBI-2349927,EBI-489887
ENKD1 [Q9H0I2]3EBI-2349927,EBI-744099
ESRRG - isoform 3 [P62508-3]3EBI-2349927,EBI-12001340
EXOSC5 [Q9NQT4]3EBI-2349927,EBI-371876
FAM124B - isoform 2 [Q9H5Z6-2]3EBI-2349927,EBI-11986315
FAM214B [Q7L5A3]3EBI-2349927,EBI-745689
FAM221B [A6H8Z2]3EBI-2349927,EBI-12006844
FBXL19 - isoform 2 [Q6PCT2-2]3EBI-2349927,EBI-11959077
GEM [P55040]3EBI-2349927,EBI-744104
GLYCTK [Q8IVS8]3EBI-2349927,EBI-748515
GOLGA1 [Q92805]3EBI-2349927,EBI-6164177
GPKOW [Q92917]3EBI-2349927,EBI-746309
GRB2 [P62993]3EBI-2349927,EBI-401755
GYS1 [P13807]3EBI-2349927,EBI-740553
HDAC4 - isoform 2 [P56524-2]3EBI-2349927,EBI-11953488
HGS [O14964]3EBI-2349927,EBI-740220
INPP5J [Q15735]3EBI-2349927,EBI-10236940
JAKMIP2 [Q96AA8]3EBI-2349927,EBI-752007
KANK2 [Q63ZY3]3EBI-2349927,EBI-2556193
KCTD7 - isoform 2 [Q96MP8-2]3EBI-2349927,EBI-11954971
L3MBTL2 [Q969R5]3EBI-2349927,EBI-739909
LMNB2 [Q03252]3EBI-2349927,EBI-2830427
LMO2 - isoform 3 [P25791-3]3EBI-2349927,EBI-11959475
LNX1 [Q8TBB1]3EBI-2349927,EBI-739832
LONRF1 [Q17RB8]6EBI-2349927,EBI-2341787
MAGOHB [Q96A72]3EBI-2349927,EBI-746778
MAPK9 [P45984]7EBI-2349927,EBI-713568
MID2 - isoform 2 [Q9UJV3-2]3EBI-2349927,EBI-10172526
MISP [Q8IVT2]3EBI-2349927,EBI-2555085
MYLIP [Q8WY64]3EBI-2349927,EBI-6952711
MYO5B - isoform 2 [Q9ULV0-2]3EBI-2349927,EBI-14093244
NCDN [Q9UBB6]6EBI-2349927,EBI-1053490
NCK2 [O43639]3EBI-2349927,EBI-713635
NDOR1 [Q9UHB4]3EBI-2349927,EBI-10249760
NEK6 - isoform 4 [Q9HC98-4]3EBI-2349927,EBI-11750983
NFKBID [Q8NI38]3EBI-2349927,EBI-10271199
NME7 [Q9Y5B8]3EBI-2349927,EBI-744782
PBLD [P30039]7EBI-2349927,EBI-750589
PHF1 [O43189]3EBI-2349927,EBI-530034
PIBF1 [Q4G0R1]3EBI-2349927,EBI-14066006
PICK1 [Q9NRD5]3EBI-2349927,EBI-79165
PLOD3 [O60568]12EBI-2349927,EBI-741582
POLR1C [O15160]3EBI-2349927,EBI-1055079
PRPF18 [Q99633]3EBI-2349927,EBI-2798416
PTK6 [Q13882]7EBI-2349927,EBI-1383632
QARS [P47897]3EBI-2349927,EBI-347462
RAD51D [O75771]3EBI-2349927,EBI-1055693
RCOR3 - isoform 2 [Q9P2K3-2]3EBI-2349927,EBI-1504830
RECK [Q6P9E2]3EBI-2349927,EBI-10253121
RHOBTB3 [O94955]3EBI-2349927,EBI-2367123
RUNX1T1 - isoform 4 [Q06455-4]3EBI-2349927,EBI-10224192
SNRNP25 [Q9BV90]6EBI-2349927,EBI-9675976
SOGA1 - isoform 4 [O94964-4]3EBI-2349927,EBI-14083835
SPATA18 [Q8TC71]3EBI-2349927,EBI-11334239
SPG21 [Q9NZD8]6EBI-2349927,EBI-742688
STK16 [O75716]3EBI-2349927,EBI-749295
TBC1D1 [Q86TI0]3EBI-2349927,EBI-1644036
TBC1D22B [Q9NU19]3EBI-2349927,EBI-8787464
TEKT4 [Q8WW24]3EBI-2349927,EBI-750487
TRIM42 [Q8IWZ5]3EBI-2349927,EBI-5235829
TRIM50 [Q86XT4]3EBI-2349927,EBI-9867283
TSSK3 [Q96PN8]6EBI-2349927,EBI-3918381
TXK [P42681]3EBI-2349927,EBI-7877438
U2AF1L5 [P0DN76]3EBI-2349927,EBI-14082807
USP2 [O75604]3EBI-2349927,EBI-743272
ZBTB16 [Q05516]3EBI-2349927,EBI-711925
ZFHX3 - isoform B [Q15911-2]3EBI-2349927,EBI-10237226
ZZZ3 [Q8IYH5]3EBI-2349927,EBI-2795524

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123203, 54 interactors

Protein interaction database and analysis system

More...
IntActi
Q5JST6, 104 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000404232

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5JST6 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1749
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5JST6

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q5JST6

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini75 – 182DM10 1PROSITE-ProRule annotationAdd BLAST108
Domaini226 – 368DM10 2PROSITE-ProRule annotationAdd BLAST143
Domaini431 – 538DM10 3PROSITE-ProRule annotationAdd BLAST108
Domaini558 – 593EF-handPROSITE-ProRule annotationAdd BLAST36

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0043 Eukaryota
ENOG410XQCQ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063528

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_018366_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5JST6

Identification of Orthologs from Complete Genome Data

More...
OMAi
IRRHRIS

Database of Orthologous Groups

More...
OrthoDBi
236088at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5JST6

TreeFam database of animal gene trees

More...
TreeFami
TF314504

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR010554 DUF1126
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR040193 EFHC1/EFHC2/EFHB
IPR006602 Uncharacterised_DM10

The PANTHER Classification System

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PANTHERi
PTHR12086 PTHR12086, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF06565 DUF1126, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00676 DM10, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51336 DM10, 3 hits
PS50222 EF_HAND_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q5JST6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:162
Mass (Da):19,042
Checksum:iE66AF08801010298
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02769831N → S. Corresponds to variant dbSNP:rs17146914Ensembl.1
Natural variantiVAR_06108657C → Y. Corresponds to variant dbSNP:rs61636783Ensembl.1
Natural variantiVAR_027699208E → K. Corresponds to variant dbSNP:rs7062352Ensembl.1
Natural variantiVAR_027700430S → Y1 PublicationCorresponds to variant dbSNP:rs2208592Ensembl.1
Natural variantiVAR_027701507E → Q. Corresponds to variant dbSNP:rs3747354EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0207661 – 587Missing in isoform 2. 1 PublicationAdd BLAST587

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS55405.1 [Q5JST6-1]

NCBI Reference Sequences

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RefSeqi
NP_079460.2, NM_025184.3 [Q5JST6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000420999; ENSP00000404232; ENSG00000183690 [Q5JST6-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80258

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:80258

UCSC genome browser

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UCSCi
uc004dgb.5 human [Q5JST6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS55405.1 [Q5JST6-1]
RefSeqiNP_079460.2, NM_025184.3 [Q5JST6-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2Z13X-ray1.84A71-190[»]
2Z14X-ray1.68A71-190[»]
SMRiQ5JST6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi123203, 54 interactors
IntActiQ5JST6, 104 interactors
STRINGi9606.ENSP00000404232

PTM databases

iPTMnetiQ5JST6
PhosphoSitePlusiQ5JST6

Polymorphism and mutation databases

BioMutaiEFHC2
DMDMi115502163

Proteomic databases

jPOSTiQ5JST6
MassIVEiQ5JST6
PaxDbiQ5JST6
PeptideAtlasiQ5JST6
PRIDEiQ5JST6
ProteomicsDBi63171 [Q5JST6-1]
63172 [Q5JST6-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
25126 98 antibodies

The DNASU plasmid repository

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DNASUi
80258

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
80258
DisGeNETi80258

GeneCards: human genes, protein and diseases

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GeneCardsi
EFHC2
HGNCiHGNC:26233 EFHC2
HPAiENSG00000183690 Tissue enhanced (brain, fallopian tube)
MIMi300817 gene
neXtProtiNX_Q5JST6
OpenTargetsiENSG00000183690
PharmGKBiPA134938637

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0043 Eukaryota
ENOG410XQCQ LUCA
GeneTreeiENSGT00530000063528
HOGENOMiCLU_018366_1_0_1
InParanoidiQ5JST6
OMAiIRRHRIS
OrthoDBi236088at2759
PhylomeDBiQ5JST6
TreeFamiTF314504

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EFHC2 human
EvolutionaryTraceiQ5JST6

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
EFHC2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
80258
PharosiQ5JST6 Tbio

Protein Ontology

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PROi
PR:Q5JST6
RNActiQ5JST6 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183690 Expressed in bronchial epithelial cell and 143 other tissues
GenevisibleiQ5JST6 HS

Family and domain databases

InterProiView protein in InterPro
IPR010554 DUF1126
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR040193 EFHC1/EFHC2/EFHB
IPR006602 Uncharacterised_DM10
PANTHERiPTHR12086 PTHR12086, 1 hit
PfamiView protein in Pfam
PF06565 DUF1126, 4 hits
SMARTiView protein in SMART
SM00676 DM10, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS51336 DM10, 3 hits
PS50222 EF_HAND_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEFHC2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5JST6
Secondary accession number(s): Q5JST8
, Q68DK4, Q8NEI0, Q9H653
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: April 22, 2020
This is version 139 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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