Gene Gene information from NCBI Gene database.
Entrez ID 30845
Gene name EH domain containing 3
Gene symbol EHD3
Synonyms (NCBI Gene)
PAST3
Chromosome 2
Chromosome location 2p23.1
miRNA miRNA information provided by mirtarbase database.
383
miRTarBase ID miRNA Experiments Reference
MIRT025667 hsa-miR-7-5p Microarray 19073608
MIRT607977 hsa-miR-3664-5p HITS-CLIP 19536157
MIRT607976 hsa-miR-4522 HITS-CLIP 19536157
MIRT450028 hsa-miR-4524a-3p HITS-CLIP 19536157
MIRT504484 hsa-miR-6867-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001881 Process Receptor recycling IMP 21791287
GO:0003676 Function Nucleic acid binding TAS 10673336
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 15020713, 17233914, 19864458, 20489164, 26226295, 27189942, 28514442, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605891 3244 ENSG00000013016
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZN3
Protein name EH domain-containing protein 3 (PAST homolog 3)
Protein function ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (PubMed:25686250). In vitro causes tubulation of endocytic membranes (PubMed:24019528). Binding to phosphatidic acid induces its membrane tubu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16880 EHD_N 24 56 N-terminal EH-domain containing protein Family
PF00350 Dynamin_N 61 221 Dynamin family Domain
PF18150 DUF5600 288 394 Domain of unknown function (DUF5600) Domain
PF12763 EF-hand_4 439 535 Cytoskeletal-regulatory complex EF hand Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart and brain and moderately expressed in kidney, liver, and placenta. {ECO:0000269|PubMed:10673336}.
Sequence
Sequence length 535
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 17330099
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 24306026
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 27811356 Associate
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 22406195
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 15378115
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 15378115
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 15378115
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic retinopathy Pubtator 33607655 Associate
★☆☆☆☆
Found in Text Mining only