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

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; AllianceGenome:HGNC:3243
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: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (47713422..47743134)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (50544240..50573946)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (48216679..48246391)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circular RNA Eps15-homology domain-containing protein 2 induce resistance of renal cell carcinoma to sunitinib via microRNA-4731-5p/ABCF2 axis.
Title: Circular RNA Eps15-homology domain-containing protein 2 induce resistance of renal cell carcinoma to sunitinib via microRNA-4731-5p/ABCF2 axis.
Hypoxia-induced macropinocytosis represents a metabolic route for liver cancer.
Title: Hypoxia-induced macropinocytosis represents a metabolic route for liver cancer.
TUSC8 inhibits the development of osteosarcoma by sponging miR1973p and targeting EHD2.
Title: TUSC8 inhibits the development of osteosarcoma by sponging miR‑197‑3p and targeting EHD2.
EHD2 Overexpression Suppresses the Proliferation, Migration, and Invasion in Human Colon Cancer.
Title: EHD2 Overexpression Suppresses the Proliferation, Migration, and Invasion in Human Colon Cancer.
EHD2-mediated restriction of caveolar dynamics regulates cellular fatty acid uptake.
Title: EHD2-mediated restriction of caveolar dynamics regulates cellular fatty acid uptake.
EHD2-controlled caveolar dynamics orchestrates the activity and regulation of eNOS/nitric oxide and Ca2+ channel localization at the plasma membrane.
Title: eNOS-NO-induced small blood vessel relaxation requires EHD2-dependent caveolae stabilization.
EHD2 can promote the proliferation, invasion, and migration and inhibit the apoptosis of clear cell renal cell carcinoma (ccRCC) cells, so EHD2 interference can significantly inhibit the development of ccRCC, and EHD2 can potentially serve as a molecular target for the clinical treatment of ccRCC.
Title: Effect of EH domain containing protein 2 on the biological behavior of clear cell renal cell carcinoma.
findings therefore define EHD2 as a central player in mechanotransduction connecting the disassembly of the caveolae reservoir with the regulation of gene transcription under mechanical stress.
Title: EHD2 is a mechanotransducer connecting caveolae dynamics with gene transcription.
EHD2 overexpression in human adipocytes increased the lipolytic signaling and suppressed the activity of transcription factor PPARgamma. Overall, these data suggest that EHD2 plays a key role for adipocyte function.
Title: EHD2 regulates adipocyte function and is enriched at cell surface-associated lipid droplets in primary human adipocytes.
Our prognostic model is useful for predicting persistent/recurrent disease after surgery of Papillary thyroid carcinoma (PTC). EHD2 mRNA expression could be a novel prognostic marker for PTC patients.
Title: Prognostic implication of histological features associated with EHD2 expression in papillary thyroid carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cortical actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytic recycling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane tubulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endocytic recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myoblast fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in recycling endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: EH domain-containing protein 2

Names: PAST homolog 2

NCBI Reference Sequences (RefSeq)

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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)

NM_014601.4 → NP_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

B2RDH9, B4DNU6, Q96CB6, Q9NZN4

UniProtKB/TrEMBL

B4DLA1

Related

ENSP00000263277.2, ENST00000263277.8

Conserved Domains (4) summary

smart00027
Location:443 → 536

EH; Eps15 homology domain

cd09913
Location:60 → 300

EHD; Eps15 homology domain (EHD), C-terminal domain

pfam16880
Location:24 → 56

EHD_N; N-terminal EH-domain containing protein

pfam18150
Location:288 → 394

DUF5600; Domain of unknown function (DUF5600)