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Protein

EF-hand domain-containing protein D2

Gene

EFHD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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
MIMi616450 gene
neXtProtiNX_Q96C19

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
ProteomicsDBi76150
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 Expressed in 205 organ(s), highest expression level in blood
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

Protein-protein interaction databases

BioGridi122597, 48 interactors
IntActiQ96C19, 7 interactors
MINTiQ96C19
STRINGi9606.ENSP00000365147

Structurei

Secondary structure

1240
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y4Y4H0Y4Y4_HUMAN
EF-hand domain-containing protein D...
EFHD2
179Annotation score:

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

Cross-referencesi

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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5H0PX-ray1.86A70-184[»]
5I2LX-ray1.85A70-184[»]
5I2OX-ray1.95A70-184[»]
5I2QX-ray1.94A70-184[»]
ProteinModelPortaliQ96C19
SMRiQ96C19
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122597, 48 interactors
IntActiQ96C19, 7 interactors
MINTiQ96C19
STRINGi9606.ENSP00000365147

PTM databases

iPTMnetiQ96C19
PhosphoSitePlusiQ96C19
SwissPalmiQ96C19

Polymorphism and mutation databases

BioMutaiEFHD2
DMDMi20140139

2D gel databases

REPRODUCTION-2DPAGEiIPI00060181
SWISS-2DPAGEiQ96C19

Proteomic databases

EPDiQ96C19
MaxQBiQ96C19
PaxDbiQ96C19
PeptideAtlasiQ96C19
PRIDEiQ96C19
ProteomicsDBi76150
TopDownProteomicsiQ96C19

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi79180
DisGeNETi79180
EuPathDBiHostDB:ENSG00000142634.12
GeneCardsiEFHD2
HGNCiHGNC:28670 EFHD2
HPAiHPA048961
MIMi616450 gene
neXtProtiNX_Q96C19
OpenTargetsiENSG00000142634
PharmGKBiPA134942316
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiEFHD2 human
GenomeRNAii79180
PROiPR:Q96C19
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142634 Expressed in 205 organ(s), highest expression level in blood
CleanExiHS_EFHD2
ExpressionAtlasiQ96C19 baseline and differential
GenevisibleiQ96C19 HS

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
ProtoNetiSearch...

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: November 7, 2018
This is version 147 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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