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Protein

EH domain-containing protein 2

Gene

EHD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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).By similarity1 Publication

Enzyme regulationi

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei220 – 2201ATPBy similarity
Binding sitei258 – 2581ATPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi65 – 728ATPBy similarity
Calcium bindingi494 – 50512PROSITE-ProRule annotationBy similarityAdd
BLAST

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • calcium ion binding Source: InterPro
  • GTP binding Source: InterPro
  • hydrolase activity Source: UniProtKB-KW
  • nucleic acid binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

ATP-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

HGNCiHGNC:3243. EHD2.

Subcellular locationi

  • Cell membrane 1 Publication; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
  • Membranecaveola By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
  • Endosome membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
  • Cytoplasmcytosol By similarity

  • Note: Colocalizes with GLUT4 in intracellular tubulovesicular structures that are associated with cortical F-actin. Colocalizes with FER1L5 at plasma membrane in myoblasts and myotubes.By similarity

GO - Cellular componenti

  • caveola Source: MGI
  • cytosol Source: UniProtKB
  • endosome membrane Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extrinsic component of membrane Source: UniProtKB
  • nucleus Source: ProtInc
  • perinuclear region of cytoplasm Source: Ensembl
  • plasma membrane Source: UniProtKB
  • recycling endosome membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endosome, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27678.

Polymorphism and mutation databases

BioMutaiEHD2.
DMDMi57015322.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 543543EH domain-containing protein 2PRO_0000146111Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei3 – 31PhosphoserineBy similarity
Modified residuei438 – 4381PhosphoserineCombined sources
Modified residuei468 – 4681PhosphoserineCombined sources
Modified residuei470 – 4701PhosphoserineCombined sources
Modified residuei484 – 4841PhosphoserineCombined sources
Modified residuei493 – 4931PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ9NZN4.
PhosphoSiteiQ9NZN4.
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.

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).By similarity2 Publications

Protein-protein interaction databases

BioGridi119056. 25 interactions.
IntActiQ9NZN4. 8 interactions.
STRINGi9606.ENSP00000263277.

Structurei

3D structure databases

ProteinModelPortaliQ9NZN4.
SMRiQ9NZN4. Positions 1-539.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini55 – 286232Dynamin-type GAdd
BLAST
Domaini449 – 53789EHPROSITE-ProRule annotationAdd
BLAST
Domaini481 – 51636EF-handPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni320 – 34021Mediates membrane-bindingBy similarityAdd
BLAST

Domaini

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

Sequence similaritiesi

Contains 1 EF-hand domain.PROSITE-ProRule annotation
Contains 1 EH domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR022812. 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.
[Graphical view]
PANTHERiPTHR11216:SF62. PTHR11216:SF62. 1 hit.
PfamiPF00350. Dynamin_N. 1 hit.
PF12763. EF-hand_4. 1 hit.
PF16880. EHD_N. 1 hit.
[Graphical view]
SMARTiSM00027. EH. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS50031. EH. 1 hit.
PS51718. G_DYNAMIN_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti96 – 961C → F in AAF40470 (PubMed:10673336).Curated
Sequence conflicti164 – 1641R → G in AAF40470 (PubMed:10673336).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti57 – 571G → S.
Corresponds to variant rs34140460 [ dbSNP | Ensembl ].
VAR_033917

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 136136Missing in isoform 2. 1 PublicationVSP_056212Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9NZN4.
SMRiQ9NZN4. Positions 1-539.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119056. 25 interactions.
IntActiQ9NZN4. 8 interactions.
STRINGi9606.ENSP00000263277.

PTM databases

iPTMnetiQ9NZN4.
PhosphoSiteiQ9NZN4.
SwissPalmiQ9NZN4.

Polymorphism and mutation databases

BioMutaiEHD2.
DMDMi57015322.

Proteomic databases

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

Protocols and materials databases

DNASUi30846.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi30846.
GeneCardsiEHD2.
HGNCiHGNC:3243. EHD2.
HPAiHPA047394.
HPA049890.
HPA049986.
MIMi605890. gene.
neXtProtiNX_Q9NZN4.
PharmGKBiPA27678.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiEHD2. human.
GeneWikiiEHD2.
GenomeRNAii30846.
PROiQ9NZN4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000024422.
CleanExiHS_EHD2.
ExpressionAtlasiQ9NZN4. baseline and differential.
GenevisibleiQ9NZN4. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR022812. 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.
[Graphical view]
PANTHERiPTHR11216:SF62. PTHR11216:SF62. 1 hit.
PfamiPF00350. Dynamin_N. 1 hit.
PF12763. EF-hand_4. 1 hit.
PF16880. EHD_N. 1 hit.
[Graphical view]
SMARTiSM00027. EH. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS50031. EH. 1 hit.
PS51718. G_DYNAMIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEHD2_HUMAN
AccessioniPrimary (citable) accession number: Q9NZN4
Secondary accession number(s): B2RDH9, B4DNU6, Q96CB6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: January 4, 2005
Last modified: September 7, 2016
This is version 143 of the entry and version 2 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 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

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.