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EHD2 EH domain containing 2 [ Homo sapiens (human) ]

Gene ID: 30846, updated on 17-Jun-2019

Summary

Official Symbol
EHD2provided by HGNC
Official Full Name
EH domain containing 2provided by HGNC
Primary source
HGNC:HGNC:3243
See related
Ensembl:ENSG00000024422 MIM:605890
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAST2
Summary
This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]
Expression
Broad expression in fat (RPKM 140.8), lung (RPKM 41.0) and 18 other tissues See more
Orthologs

Genomic context

See EHD2 in Genome Data Viewer
Location:
19q13.33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (47713422..47743134)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48216601..48246391)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 322, pseudogene Neighboring gene BRD4 interacting chromatin remodeling complex associated protein Neighboring gene NOP53 ribosome biogenesis factor Neighboring gene NOP53 antisense RNA 1 Neighboring gene small nucleolar RNA, C/D box 23

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ96617

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
nucleic acid binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
cortical actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
endocytic recycling IGI
Inferred from Genetic Interaction
more info
PubMed 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
plasma membrane tubulation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of endocytic recycling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of myoblast fusion ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
caveola IDA
Inferred from Direct Assay
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extrinsic component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
recycling endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
EH domain-containing protein 2
Names
PAST homolog 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_014601.4NP_055416.2  EH domain-containing protein 2

    See identical proteins and their annotated locations for NP_055416.2

    Status: REVIEWED

    Source sequence(s)
    AK315548, BC014445, BG677716, DB260808
    Consensus CDS
    CCDS12704.1
    UniProtKB/Swiss-Prot
    Q9NZN4
    UniProtKB/TrEMBL
    A0A024R0S6
    Related
    ENSP00000263277.2, ENST00000263277.8
    Conserved Domains (3) summary
    smart00027
    Location:443536
    EH; Eps15 homology domain
    cd09913
    Location:60300
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:2556
    EHD_N; N-terminal EH-domain containing protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    47713422..47743134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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