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Aliases for ENTHD2 Gene

Aliases for ENTHD2 Gene

  • ENTH Domain Containing 2 2 3 5
  • ENTH Domain-Containing Protein 2 3 4
  • Epsin For AP-4 3 4
  • Tetra-Epsin 3 4
  • C17orf56 3 4
  • Chromosome 17 Open Reading Frame 56 2

External Ids for ENTHD2 Gene

Previous HGNC Symbols for ENTHD2 Gene

  • C17orf56

Previous GeneCards Identifiers for ENTHD2 Gene

  • GC17M079203

Summaries for ENTHD2 Gene

GeneCards Summary for ENTHD2 Gene

ENTHD2 (ENTH Domain Containing 2) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENTHD2 Gene

Genomics for ENTHD2 Gene

Genomic Location for ENTHD2 Gene

Chromosome:
17
Start:
81,228,277 bp from pter
End:
81,239,091 bp from pter
Size:
10,815 bases
Orientation:
Minus strand

Genomic View for ENTHD2 Gene

Genes around ENTHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENTHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENTHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENTHD2 Gene

No data available for Regulatory Elements for ENTHD2 Gene

Proteins for ENTHD2 Gene

  • Protein details for ENTHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96N21-AP4AT_HUMAN
    Recommended name:
    AP-4 complex accessory subunit tepsin
    Protein Accession:
    Q96N21
    Secondary Accessions:
    • Q6ZQU0
    • Q6ZSQ9

    Protein attributes for ENTHD2 Gene

    Size:
    525 amino acids
    Molecular mass:
    55137 Da
    Quaternary structure:
    • Associates with the adapter-like complex 4 (AP-4). AP-4 is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). Within this complex, may directly interact with AP4B1.

    Alternative splice isoforms for ENTHD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENTHD2 Gene

Proteomics data for ENTHD2 Gene at MOPED

Post-translational modifications for ENTHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ENTHD2 Gene

No data available for DME Specific Peptides for ENTHD2 Gene

Domains & Families for ENTHD2 Gene

Protein Domains for ENTHD2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96N21

UniProtKB/Swiss-Prot:

AP4AT_HUMAN :
  • Contains 1 ENTH (epsin N-terminal homology) domain.
Domain:
  • Contains 1 ENTH (epsin N-terminal homology) domain.
genes like me logo Genes that share domains with ENTHD2: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for ENTHD2 Gene

Function for ENTHD2 Gene

genes like me logo Genes that share phenotypes with ENTHD2: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENTHD2 Gene

Localization for ENTHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENTHD2 Gene

Cytoplasm, cytosol. Cytoplasmic vesicle. Note=Extensively colocalizes with AP-4 in a punctate juxtanuclear pattern, which likely corresponds to trans-Golgi network. Requires a functional AP-4 complex for recruitment to vesicle membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENTHD2 Gene COMPARTMENTS Subcellular localization image for ENTHD2 gene
Compartment Confidence
cytosol 4
mitochondrion 2
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ENTHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016023 cytoplasmic, membrane-bounded vesicle IEA --
genes like me logo Genes that share ontologies with ENTHD2: view

Pathways & Interactions for ENTHD2 Gene

SuperPathways for ENTHD2 Gene

No Data Available

Interacting Proteins for ENTHD2 Gene

Gene Ontology (GO) - Biological Process for ENTHD2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ENTHD2 Gene

Drugs & Compounds for ENTHD2 Gene

No Compound Related Data Available

Transcripts for ENTHD2 Gene

Unigene Clusters for ENTHD2 Gene

ENTH domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ENTHD2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15
SP1: - - - -
SP2: - - - - - - - - -
SP3: - - -
SP4: - - - - - -
SP5: - - -
SP6:
SP7:
SP8:
SP9: - -

Relevant External Links for ENTHD2 Gene

GeneLoc Exon Structure for
ENTHD2
ECgene alternative splicing isoforms for
ENTHD2

Expression for ENTHD2 Gene

mRNA expression in normal human tissues for ENTHD2 Gene

mRNA differential expression in normal tissues according to GTEx for ENTHD2 Gene

This gene is overexpressed in Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for ENTHD2 Gene

This gene is overexpressed in Heart (29.6) and Testis (25.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ENTHD2 Gene



SOURCE GeneReport for Unigene cluster for ENTHD2 Gene Hs.631761

genes like me logo Genes that share expression patterns with ENTHD2: view

Protein tissue co-expression partners for ENTHD2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ENTHD2 Gene

Orthologs for ENTHD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ENTHD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C19H17orf56 35
  • 76.52 (n)
  • 67.61 (a)
ENTHD2 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENTHD2 35
  • 75.96 (n)
  • 71.19 (a)
ENTHD2 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Enthd2 35
  • 75.31 (n)
  • 73.07 (a)
Enthd2 16
Enthd2 36
  • 64 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ENTHD2 35
  • 98.59 (n)
  • 97.65 (a)
ENTHD2 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enthd2 35
  • 75.76 (n)
  • 74.7 (a)
oppossum
(Monodelphis domestica)
Mammalia ENTHD2 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENTHD2 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves C17ORF56 35
  • 63.23 (n)
  • 57.32 (a)
ENTHD2 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENTHD2 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enthd2 35
  • 53.51 (n)
  • 50.31 (a)
zebrafish
(Danio rerio)
Actinopterygii enthd2 35
  • 53.95 (n)
  • 48.22 (a)
enthd2 36
  • 39 (a)
OneToOne
Species with no ortholog for ENTHD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ENTHD2 Gene

ENSEMBL:
Gene Tree for ENTHD2 (if available)
TreeFam:
Gene Tree for ENTHD2 (if available)

Paralogs for ENTHD2 Gene

No data available for Paralogs for ENTHD2 Gene

Variants for ENTHD2 Gene

Sequence variations from dbSNP and Humsavar for ENTHD2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2271089 -- 81,236,907(-) ACGAG(C/T)GGCCC intron-variant
rs2659047 -- 81,234,929(-) ttagg(C/G)tgatg intron-variant
rs11150778 -- 81,234,735(+) CTGGC(A/G)GCCAC intron-variant
rs11651925 -- 81,234,635(+) ACAGG(A/C)GAATC intron-variant
rs11652662 -- 81,234,804(+) GCCCA(A/G)GGCAC intron-variant

Variation tolerance for ENTHD2 Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.51; 55.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENTHD2 Gene

HapMap Linkage Disequilibrium report
ENTHD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ENTHD2 Gene

Disorders for ENTHD2 Gene

Relevant External Links for ENTHD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENTHD2

No disorders were found for ENTHD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ENTHD2 Gene

Publications for ENTHD2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. A human RNA polymerase II complex containing factors that modify chromatin structure. (PMID: 9710619) Cho H. … Reinberg D. (Mol. Cell. Biol. 1998) 3

Products for ENTHD2 Gene

Sources for ENTHD2 Gene

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