Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TEPSIN Gene

Aliases for TEPSIN Gene

  • TEPSIN, Adaptor Related Protein Complex 4 Accessory Protein 2 3 5
  • ENTH Domain-Containing Protein 2 3 4
  • ENTH Domain Containing 2 2 3
  • AP-4 Accessory Protein 2 3
  • Epsin For AP-4 3 4
  • Tetra-Epsin 3 4
  • C17orf56 3 4
  • ENTHD2 3 4
  • AP-4 Complex Accessory Subunit Tepsin 3
  • Chromosome 17 Open Reading Frame 56 2

External Ids for TEPSIN Gene

Previous HGNC Symbols for TEPSIN Gene

  • C17orf56
  • ENTHD2

Summaries for TEPSIN Gene

GeneCards Summary for TEPSIN Gene

TEPSIN (TEPSIN, Adaptor Related Protein Complex 4 Accessory Protein) is a Protein Coding gene. Diseases associated with TEPSIN include Cataract 8, Multiple Types.

Additional gene information for TEPSIN Gene

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

Genomics for TEPSIN Gene

Regulatory Elements for TEPSIN Gene

Enhancers for TEPSIN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H081250 1.1 ENCODE 62.6 -13.0 -13008 3 HDGF PKNOX1 ARNT ARID4B YBX1 ZNF2 ZBTB7B ZNF302 ZNF207 ZNF143 TEPSIN FAAP100 ALYREF ENSG00000265678 HGS SLC38A10 ENSG00000262877 ENSG00000260369 DUS1L CEP131
GH17H082211 1.7 Ensembl ENCODE dbSUPER 33 -976.9 -976913 8.5 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 TBCD CCDC57 NARF-IT1 FAAP100 HGS ENSG00000260563 OGFOD3 ENSG00000262652 TEPSIN ARL2BPP9
GH17H081424 1.2 ENCODE dbSUPER 38.5 -185.7 -185685 0.2 HDGF YBX1 PLRG1 ZBTB7B ZNF155 YY2 ZNF114 ZIK1 ZNF488 ZNF662 OGFOD3 FAAP100 CEP131 ENSG00000262877 TEPSIN ENSG00000265678 HEXDC HGS ENSG00000260563 ENSG00000260369
GH17H081864 1.4 ENCODE dbSUPER 29.6 -629.9 -629853 8.9 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC PPARGC1A SSRP1 TBCD FAAP100 HGS ENSG00000265678 ENSG00000260563 NARF-IT1 TEPSIN CEP131 ENSG00000262652 CSNK1D
GH17H080980 1.2 Ensembl dbSUPER 32.3 +257.6 257616 2.2 HDGF PKNOX1 ATF1 GLI4 GLIS2 ZNF207 ZNF143 FOS ATF7 SP3 TEPSIN EIF4A3 CHMP6 ALYREF HGS FAAP100 ARL16 ENSG00000262877 LOC100130370 AATK
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TEPSIN on UCSC Golden Path with GeneCards custom track

Genomic Locations for TEPSIN Gene

Genomic Locations for TEPSIN Gene
10,815 bases
Minus strand

Genomic View for TEPSIN Gene

Genes around TEPSIN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TEPSIN Gene

Proteins for TEPSIN Gene

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

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

    Protein attributes for TEPSIN Gene

    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 TEPSIN Gene


neXtProt entry for TEPSIN Gene

Post-translational modifications for TEPSIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TEPSIN Gene

Domains & Families for TEPSIN Gene

Gene Families for TEPSIN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TEPSIN Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TEPSIN: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TEPSIN Gene

Function for TEPSIN Gene

Phenotypes From GWAS Catalog for TEPSIN Gene

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

Clone 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 TEPSIN Gene

Localization for TEPSIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for TEPSIN 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TEPSIN gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 4
mitochondrion 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nuclear membrane (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TEPSIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IEA --
GO:0016607 nuclear speck IDA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with TEPSIN: view

Pathways & Interactions for TEPSIN Gene

SuperPathways for TEPSIN Gene

No Data Available

Gene Ontology (GO) - Biological Process for TEPSIN Gene


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

Drugs & Compounds for TEPSIN Gene

No Compound Related Data Available

Transcripts for TEPSIN Gene

Clone Products

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

No ASD Table

Relevant External Links for TEPSIN Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TEPSIN Gene

NURSA nuclear receptor signaling pathways regulating expression of TEPSIN Gene:


Evidence on tissue expression from TISSUES for TEPSIN Gene

  • Nervous system(4.5)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TEPSIN Gene

Orthologs for TEPSIN Gene

This gene was present in the common ancestor of chordates.

Orthologs for TEPSIN Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ENTHD2 34 33
  • 98.59 (n)
(Bos Taurus)
Mammalia C19H17orf56 33
  • 76.52 (n)
  • 63 (a)
(Canis familiaris)
Mammalia ENTHD2 34 33
  • 75.96 (n)
(Rattus norvegicus)
Mammalia Enthd2 33
  • 75.76 (n)
(Mus musculus)
Mammalia Enthd2 34 33
  • 75.31 (n)
Tepsin 16
(Monodelphis domestica)
Mammalia ENTHD2 34
  • 53 (a)
(Ornithorhynchus anatinus)
Mammalia ENTHD2 34
  • 50 (a)
(Gallus gallus)
Aves C17ORF56 33
  • 63.23 (n)
  • 47 (a)
(Anolis carolinensis)
Reptilia ENTHD2 34
  • 48 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia enthd2 33
  • 53.51 (n)
(Danio rerio)
Actinopterygii enthd2 34 33
  • 53.95 (n)
Species where no ortholog for TEPSIN was found in the sources mined by GeneCards:
  • 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 TEPSIN Gene

Gene Tree for TEPSIN (if available)
Gene Tree for TEPSIN (if available)

Paralogs for TEPSIN Gene

No data available for Paralogs for TEPSIN Gene

Variants for TEPSIN Gene

Sequence variations from dbSNP and Humsavar for TEPSIN Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000044596 -- 81,235,321(+) CGCGC(A/G/T)TGGGG intron-variant
rs1000104182 -- 81,235,222(+) TCCTG(A/G)CCGCA intron-variant
rs1000200703 -- 81,239,782(+) AGCGC(C/T)TGCCG intron-variant, upstream-variant-2KB
rs1000688124 -- 81,238,509(+) AGGGG(A/C/T)TTACA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001065340 -- 81,230,213(+) GCATG(C/T)GCAGT intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for TEPSIN Gene

Variant ID Type Subtype PubMed ID
nsv952389 CNV deletion 24416366
nsv828128 CNV loss 20364138
nsv576172 CNV loss 21841781
nsv509677 CNV insertion 20534489
nsv470619 CNV loss 18288195
nsv457971 CNV loss 19166990
nsv428351 CNV gain 18775914
nsv2161 CNV insertion 18451855
nsv1160499 CNV deletion 26073780
nsv1064123 CNV gain 25217958
esv2758707 CNV gain 17122850
esv2716443 CNV deletion 23290073
esv26223 CNV gain+loss 19812545
dgv46n68 CNV loss 17160897

Variation tolerance for TEPSIN 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 TEPSIN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TEPSIN Gene

Disorders for TEPSIN Gene

MalaCards: The human disease database

(1) MalaCards diseases for TEPSIN Gene - From: DISEASES

Disorder Aliases PubMed IDs
cataract 8, multiple types
  • cataract 8 multiple types
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TEPSIN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TEPSIN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TEPSIN Gene

Publications for TEPSIN Gene

  1. Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles. (PMID: 22472443) Borner GH … Robinson MS (The Journal of cell biology 2012) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60
  4. Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex. (PMID: 26542808) Mattera R … Bonifacino JS (The Journal of biological chemistry 2015) 3 60
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) Kırlı K … Görlich D (eLife 2015) 3 60

Products for TEPSIN Gene

Sources for TEPSIN Gene

Loading form....