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Entry version 170 (16 Oct 2019)
Sequence version 2 (04 Jan 2005)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei220ATPBy similarity1
Binding sitei258ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi65 – 72ATPBy similarity8
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi494 – 505PROSITE-ProRule annotationBy similarityAdd BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-983231 Factors involved in megakaryocyte development and platelet production

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
EH domain-containing protein 2Curated
Alternative name(s):
PAST homolog 2Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EHD2Imported
Synonyms:PAST2Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3243 EHD2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605890 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZN4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
30846

Open Targets

More...
OpenTargetsi
ENSG00000024422

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27678

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZN4

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EHD2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
57015322

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001461111 – 543EH domain-containing protein 2Add BLAST543

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei3PhosphoserineBy similarity1
Modified residuei438PhosphoserineCombined sources1
Modified residuei468PhosphoserineCombined sources1
Modified residuei470PhosphoserineCombined sources1
Modified residuei484PhosphoserineCombined sources1
Modified residuei493PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NZN4

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NZN4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NZN4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NZN4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NZN4

PeptideAtlas

More...
PeptideAtlasi
Q9NZN4

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZN4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
4726
83459 [Q9NZN4-1]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q9NZN4-1 [Q9NZN4-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZN4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NZN4

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9NZN4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000024422 Expressed in 211 organ(s), highest expression level in adipose tissue of abdominal region

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NZN4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZN4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA047394
HPA049890
HPA049986
HPA066751

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119056, 31 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NZN4, 15 interactors

Molecular INTeraction database

More...
MINTi
Q9NZN4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263277

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NZN4

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini55 – 286Dynamin-type GPROSITE-ProRule annotationAdd BLAST232
Domaini449 – 537EHPROSITE-ProRule annotationAdd BLAST89
Domaini481 – 516EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1954 Eukaryota
ENOG410XYGB LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159256

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000242040

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NZN4

KEGG Orthology (KO)

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KOi
K12469

Identification of Orthologs from Complete Genome Data

More...
OMAi
QYYGFHD

Database of Orthologous Groups

More...
OrthoDBi
377342at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZN4

TreeFam database of animal gene trees

More...
TreeFami
TF314429

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00052 EH, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR040990 DUF5600
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

The PANTHER Classification System

More...
PANTHERi
PTHR11216:SF62 PTHR11216:SF62, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF18150 DUF5600, 1 hit
PF00350 Dynamin_N, 1 hit
PF12763 EF-hand_4, 1 hit
PF16880 EHD_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00027 EH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View 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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R1B9M0R1B9_HUMAN
EH domain-containing protein 2
EHD2
30Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti96C → F in AAF40470 (PubMed:10673336).Curated1
Sequence conflicti164R → G in AAF40470 (PubMed:10673336).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03391757G → S. Corresponds to variant dbSNP:rs34140460Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0562121 – 136Missing in isoform 2. 1 PublicationAdd BLAST136

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12704.1 [Q9NZN4-1]

NCBI Reference Sequences

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RefSeqi
NP_055416.2, NM_014601.3 [Q9NZN4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263277; ENSP00000263277; ENSG00000024422 [Q9NZN4-1]
ENST00000538399; ENSP00000439036; ENSG00000024422 [Q9NZN4-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
30846

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:30846

UCSC genome browser

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UCSCi
uc002phj.5 human [Q9NZN4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ9NZN4
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119056, 31 interactors
IntActiQ9NZN4, 15 interactors
MINTiQ9NZN4
STRINGi9606.ENSP00000263277

PTM databases

iPTMnetiQ9NZN4
PhosphoSitePlusiQ9NZN4
SwissPalmiQ9NZN4

Polymorphism and mutation databases

BioMutaiEHD2
DMDMi57015322

Proteomic databases

EPDiQ9NZN4
jPOSTiQ9NZN4
MassIVEiQ9NZN4
MaxQBiQ9NZN4
PaxDbiQ9NZN4
PeptideAtlasiQ9NZN4
PRIDEiQ9NZN4
ProteomicsDBi4726
83459 [Q9NZN4-1]
TopDownProteomicsiQ9NZN4-1 [Q9NZN4-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
30846

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
30846
DisGeNETi30846

GeneCards: human genes, protein and diseases

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GeneCardsi
EHD2
HGNCiHGNC:3243 EHD2
HPAiHPA047394
HPA049890
HPA049986
HPA066751
MIMi605890 gene
neXtProtiNX_Q9NZN4
OpenTargetsiENSG00000024422
PharmGKBiPA27678

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1954 Eukaryota
ENOG410XYGB LUCA
GeneTreeiENSGT00940000159256
HOGENOMiHOG000242040
InParanoidiQ9NZN4
KOiK12469
OMAiQYYGFHD
OrthoDBi377342at2759
PhylomeDBiQ9NZN4
TreeFamiTF314429

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EHD2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
EHD2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
30846
PharosiQ9NZN4

Protein Ontology

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PROi
PR:Q9NZN4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000024422 Expressed in 211 organ(s), highest expression level in adipose tissue of abdominal region
ExpressionAtlasiQ9NZN4 baseline and differential
GenevisibleiQ9NZN4 HS

Family and domain databases

CDDicd00052 EH, 1 hit
InterProiView protein in InterPro
IPR040990 DUF5600
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
PF18150 DUF5600, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEHD2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NZN4
Secondary accession number(s): B2RDH9, B4DNU6, Q96CB6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: January 4, 2005
Last modified: October 16, 2019
This is version 170 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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