Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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 involved in cell-cell adhesion Source: BHF-UCL
  • calcium ion binding Source: InterPro
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000142634-MONOMER.

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

HGNCiHGNC:28670. EFHD2.

Subcellular locationi

  • Membrane raft By similarity

  • Note: In a mouse immature B-cell line WEHI-231.By similarity

GO - Cellular componenti

  • cell-cell adherens junction Source: BHF-UCL
  • membrane raft Source: UniProtKB-SubCell
Complete GO annotation...

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-2DPAGEIPI00060181.
SWISS-2DPAGEQ96C19.

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 involved in cell-cell adhesion Source: BHF-UCL

Protein-protein interaction databases

BioGridi122597. 31 interactors.
IntActiQ96C19. 7 interactors.
MINTiMINT-2730606.
STRINGi9606.ENSP00000365147.

Structurei

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

Sequence similaritiesi

Contains 2 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 2 hits.
[Graphical view]

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. Translation: CAI21431.1.
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL031283 Genomic DNA. Translation: CAI21431.1.
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

ProteinModelPortaliQ96C19.
SMRiQ96C19.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122597. 31 interactors.
IntActiQ96C19. 7 interactors.
MINTiMINT-2730606.
STRINGi9606.ENSP00000365147.

PTM databases

iPTMnetiQ96C19.
PhosphoSitePlusiQ96C19.
SwissPalmiQ96C19.

Polymorphism and mutation databases

BioMutaiEFHD2.
DMDMi20140139.

2D gel databases

REPRODUCTION-2DPAGEIPI00060181.
SWISS-2DPAGEQ96C19.

Proteomic databases

EPDiQ96C19.
MaxQBiQ96C19.
PaxDbiQ96C19.
PeptideAtlasiQ96C19.
PRIDEiQ96C19.
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.
GeneCardsiEFHD2.
HGNCiHGNC:28670. EFHD2.
HPAiHPA048961.
MIMi616450. gene.
neXtProtiNX_Q96C19.
OpenTargetsiENSG00000142634.
PharmGKBiPA134942316.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000142634-MONOMER.

Miscellaneous databases

ChiTaRSiEFHD2. human.
GenomeRNAii79180.
PROiQ96C19.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEFHD2_HUMAN
AccessioniPrimary (citable) accession number: Q96C19
Secondary accession number(s): Q5JYW9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 133 of the entry and version 1 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

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. 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.