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Protein

EF-hand domain-containing protein D2

Gene

EFHD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis. Plays a role as negative regulator of the canonical NF-kappa-B-activating branch. Controls spontaneous apoptosis through the regulation of BCL2L1 abundance.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi105 – 1161PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi141 – 1522PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • calcium ion binding Source: InterPro

Keywordsi

LigandCalcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand domain-containing protein D2
Alternative name(s):
Swiprosin-1
Gene namesi
Name:EFHD2
Synonyms:SWS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000142634.12.
HGNCiHGNC:28670. EFHD2.

Subcellular locationi

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi79180.
OpenTargetsiENSG00000142634.
PharmGKBiPA134942316.

Polymorphism and mutation databases

BioMutaiEFHD2.
DMDMi20140139.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000736452 – 240EF-hand domain-containing protein D2Add BLAST239

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei11PhosphoserineCombined sources1
Modified residuei74PhosphoserineCombined sources1
Modified residuei76PhosphoserineCombined sources1
Modified residuei83PhosphotyrosineBy similarity1
Modified residuei233N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96C19.
MaxQBiQ96C19.
PaxDbiQ96C19.
PeptideAtlasiQ96C19.
PRIDEiQ96C19.
TopDownProteomicsiQ96C19.

2D gel databases

REPRODUCTION-2DPAGEiIPI00060181.
SWISS-2DPAGEiQ96C19.

PTM databases

iPTMnetiQ96C19.
PhosphoSitePlusiQ96C19.
SwissPalmiQ96C19.

Expressioni

Tissue specificityi

Found in lymphocytes; preferentially expressed in CD8+ cells.2 Publications

Gene expression databases

BgeeiENSG00000142634.
CleanExiHS_EFHD2.
ExpressionAtlasiQ96C19. baseline and differential.
GenevisibleiQ96C19. HS.

Organism-specific databases

HPAiHPA048961.

Interactioni

Subunit structurei

Interacts with CASP9; with inactive form.1 Publication

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi122597. 47 interactors.
IntActiQ96C19. 7 interactors.
MINTiMINT-2730606.
STRINGi9606.ENSP00000365147.

Structurei

Secondary structure

1240
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi82 – 85Combined sources4
Helixi91 – 104Combined sources14
Beta strandi109 – 112Combined sources4
Helixi114 – 124Combined sources11
Helixi130 – 140Combined sources11
Beta strandi145 – 149Combined sources5
Helixi150 – 161Combined sources12
Helixi170 – 177Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5I2LX-ray1.85A70-184[»]
5I2OX-ray1.95A70-184[»]
5I2QX-ray1.94A70-184[»]
ProteinModelPortaliQ96C19.
SMRiQ96C19.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini92 – 127EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini128 – 163EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0041. Eukaryota.
ENOG4111JG9. LUCA.
GeneTreeiENSGT00390000012058.
HOGENOMiHOG000007978.
HOVERGENiHBG051446.
InParanoidiQ96C19.
OMAiQYDAGKD.
OrthoDBiEOG091G106K.
PhylomeDBiQ96C19.
TreeFamiTF320736.

Family and domain databases

CDDicd00051. EFh. 1 hit.
InterProiView protein in InterPro
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
PfamiView protein in Pfam
PF13499. EF-hand_7. 1 hit.
SMARTiView protein in SMART
SM00054. EFh. 2 hits.
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiView protein in PROSITE
PS50222. EF_HAND_2. 2 hits.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q96C19-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATDELATKL SRRLQMEGEG GGETPEQPGL NGAAAAAAGA PDEAAEALGS
60 70 80 90 100
ADCELSAKLL RRADLNQGIG EPQSPSRRVF NPYTEFKEFS RKQIKDMEKM
110 120 130 140 150
FKQYDAGRDG FIDLMELKLM MEKLGAPQTH LGLKNMIKEV DEDFDSKLSF
160 170 180 190 200
REFLLIFRKA AAGELQEDSG LCVLARLSEI DVSSEGVKGA KSFFEAKVQA
210 220 230 240
INVSSRFEEE IKAEQEERKK QAEEMKQRKA AFKELQSTFK
Length:240
Mass (Da):26,697
Last modified:December 1, 2001 - v1
Checksum:i9FE3FEC3007A8FC2
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL031283 Genomic DNA. No translation available.
CH471167 Genomic DNA. Translation: EAW51720.1.
BC007233 mRNA. Translation: AAH07233.1.
BC014923 mRNA. Translation: AAH14923.1.
BC023611 mRNA. Translation: AAH23611.1.
BC068473 mRNA. Translation: AAH68473.1.
CCDSiCCDS155.1.
RefSeqiNP_077305.2. NM_024329.5.
UniGeneiHs.465374.

Genome annotation databases

EnsembliENST00000375980; ENSP00000365147; ENSG00000142634.
GeneIDi79180.
KEGGihsa:79180.
UCSCiuc001awh.2. human.

Similar proteinsi

Entry informationi

Entry nameiEFHD2_HUMAN
AccessioniPrimary (citable) accession number: Q96C19
Secondary accession number(s): Q5JYW9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: December 1, 2001
Last modified: September 27, 2017
This is version 141 of the entry and version 1 of the sequence. See 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references