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Protein

EH domain-containing protein 2

Gene

EHD2

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

Functioni

ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes (PubMed:17233914). Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane (PubMed:25588833).By similarity2 Publications

Enzyme regulationi

The very low intrinsic ATPase activity is increased upon interaction with liposomes.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei220ATPBy similarity1
Binding sitei258ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi65 – 72ATPBy similarity8
Calcium bindingi494 – 505PROSITE-ProRule annotationBy similarityAdd BLAST12

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
LigandATP-binding, Calcium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-983231 Factors involved in megakaryocyte development and platelet production

Names & Taxonomyi

Protein namesi
Recommended name:
EH domain-containing protein 2Curated
Alternative name(s):
PAST homolog 2Curated
Gene namesi
Name:EHD2Imported
Synonyms:PAST2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000024422.11
HGNCiHGNC:3243 EHD2
MIMi605890 gene
neXtProtiNX_Q9NZN4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi30846
OpenTargetsiENSG00000024422
PharmGKBiPA27678

Polymorphism and mutation databases

BioMutaiEHD2
DMDMi57015322

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001461111 – 543EH domain-containing protein 2Add BLAST543

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3PhosphoserineBy similarity1
Modified residuei438PhosphoserineCombined sources1
Modified residuei468PhosphoserineCombined sources1
Modified residuei470PhosphoserineCombined sources1
Modified residuei484PhosphoserineCombined sources1
Modified residuei493PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NZN4
MaxQBiQ9NZN4
PaxDbiQ9NZN4
PeptideAtlasiQ9NZN4
PRIDEiQ9NZN4
ProteomicsDBi83459
TopDownProteomicsiQ9NZN4-1 [Q9NZN4-1]

PTM databases

iPTMnetiQ9NZN4
PhosphoSitePlusiQ9NZN4
SwissPalmiQ9NZN4

Expressioni

Tissue specificityi

Highly expressed in heart and moderately expressed in placenta, lung, and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000024422
CleanExiHS_EHD2
ExpressionAtlasiQ9NZN4 baseline and differential
GenevisibleiQ9NZN4 HS

Organism-specific databases

HPAiHPA047394
HPA049890
HPA049986
HPA066751

Interactioni

Subunit structurei

Homodimer and homooligomer. Interacts with EHD1. May also interact with EHD3 and EHD4 (PubMed:17233914). Interacts with MYOF (PubMed:18502764). Interacts with EHBP1. Interacts with FER1L5 (via second C2 domain) (By similarity). Interacts with CAV1 in a cholesterol-dependent manner (PubMed:25588833).By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119056, 27 interactors
IntActiQ9NZN4, 10 interactors
MINTiQ9NZN4
STRINGi9606.ENSP00000263277

Structurei

3D structure databases

ProteinModelPortaliQ9NZN4
SMRiQ9NZN4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini55 – 286Dynamin-type GPROSITE-ProRule annotationAdd BLAST232
Domaini449 – 537EHPROSITE-ProRule annotationAdd BLAST89
Domaini481 – 516EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni65 – 72G1 motifPROSITE-ProRule annotation8
Regioni91 – 92G2 motifPROSITE-ProRule annotation2
Regioni153 – 156G3 motifPROSITE-ProRule annotation4
Regioni219 – 222G4 motifPROSITE-ProRule annotation4
Regioni243G5 motifPROSITE-ProRule annotation1
Regioni320 – 340Mediates membrane-bindingBy similarityAdd BLAST21

Domaini

The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.By similarity

Sequence similaritiesi

Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1954 Eukaryota
ENOG410XYGB LUCA
GeneTreeiENSGT00760000118985
HOGENOMiHOG000242040
HOVERGENiHBG018183
InParanoidiQ9NZN4
KOiK12469
OMAiEMPSVFR
OrthoDBiEOG091G04KA
PhylomeDBiQ9NZN4
TreeFamiTF314429

Family and domain databases

CDDicd00052 EH, 1 hit
InterProiView protein in InterPro
IPR022812 Dynamin_SF
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR000261 EH_dom
IPR029945 EHD2
IPR031692 EHD_N
IPR030381 G_DYNAMIN_dom
IPR027417 P-loop_NTPase
PANTHERiPTHR11216:SF62 PTHR11216:SF62, 1 hit
PfamiView protein in Pfam
PF00350 Dynamin_N, 1 hit
PF12763 EF-hand_4, 1 hit
PF16880 EHD_N, 1 hit
SMARTiView protein in SMART
SM00027 EH, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 1 hit
PS50031 EH, 1 hit
PS51718 G_DYNAMIN_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NZN4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MFSWLKRGGA RGQQPEAIRT VTSALKELYR TKLLPLEEHY RFGAFHSPAL
60 70 80 90 100
EDADFDGKPM VLVAGQYSTG KTSFIQYLLE QEVPGSRVGP EPTTDCFVAV
110 120 130 140 150
MHGDTEGTVP GNALVVDPDK PFRKLNPFGN TFLNRFMCAQ LPNQVLESIS
160 170 180 190 200
IIDTPGILSG AKQRVSRGYD FPAVLRWFAE RVDLIILLFD AHKLEISDEF
210 220 230 240 250
SEAIGALRGH EDKIRVVLNK ADMVETQQLM RVYGALMWAL GKVVGTPEVL
260 270 280 290 300
RVYIGSFWSQ PLLVPDNRRL FELEEQDLFR DIQGLPRHAA LRKLNDLVKR
310 320 330 340 350
ARLVRVHAYI ISYLKKEMPS VFGKENKKKQ LILKLPVIFA KIQLEHHISP
360 370 380 390 400
GDFPDCQKMQ ELLMAHDFTK FHSLKPKLLE ALDEMLTHDI AKLMPLLRQE
410 420 430 440 450
ELESTEVGVQ GGAFEGTHMG PFVERGPDEA MEDGEEGSDD EAEWVVTKDK
460 470 480 490 500
SKYDEIFYNL APADGKLSGS KAKTWMVGTK LPNSVLGRIW KLSDVDRDGM
510 520 530 540
LDDEEFALAS HLIEAKLEGH GLPANLPRRL VPPSKRRHKG SAE
Length:543
Mass (Da):61,161
Last modified:January 4, 2005 - v2
Checksum:i0EBF691B0A707359
GO
Isoform 2 (identifier: Q9NZN4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-136: Missing.

Note: No experimental confirmation available.
Show »
Length:407
Mass (Da):46,059
Checksum:iAD3AEE6104A69366
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti96C → F in AAF40470 (PubMed:10673336).Curated1
Sequence conflicti164R → G in AAF40470 (PubMed:10673336).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03391757G → S. Corresponds to variant dbSNP:rs34140460Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0562121 – 136Missing in isoform 2. 1 PublicationAdd BLAST136

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF181263 mRNA Translation: AAF40470.1
AF454952 mRNA Translation: AAL51078.1
AK298067 mRNA Translation: BAG60358.1
AK315548 mRNA Translation: BAG37926.1
AC008745 Genomic DNA No translation available.
AC010519 Genomic DNA No translation available.
CH471126 Genomic DNA Translation: EAW57505.1
BC014445 mRNA Translation: AAH14445.1
CCDSiCCDS12704.1 [Q9NZN4-1]
RefSeqiNP_055416.2, NM_014601.3 [Q9NZN4-1]
UniGeneiHs.744963

Genome annotation databases

EnsembliENST00000263277; ENSP00000263277; ENSG00000024422 [Q9NZN4-1]
ENST00000538399; ENSP00000439036; ENSG00000024422 [Q9NZN4-2]
GeneIDi30846
KEGGihsa:30846
UCSCiuc002phj.5 human [Q9NZN4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEHD2_HUMAN
AccessioniPrimary (citable) accession number: Q9NZN4
Secondary accession number(s): B2RDH9, B4DNU6, Q96CB6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: January 4, 2005
Last modified: July 18, 2018
This is version 159 of the entry and version 2 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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