Aliases for TEPSIN Gene

Aliases for TEPSIN Gene

  • TEPSIN Adaptor Related Protein Complex 4 Accessory Protein 2 3 5
  • AP-4 Complex Accessory Subunit Tepsin 3 4
  • 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
  • Chromosome 17 Open Reading Frame 56 2
  • FLJ31528 2
  • TEPSIN 5

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 Hermansky-Pudlak Syndrome 2.

UniProtKB/Swiss-Prot Summary for TEPSIN Gene

  • Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TEPSIN Gene

Genomics for TEPSIN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TEPSIN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TEPSIN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TEPSIN

Genomic Locations for TEPSIN Gene

Latest Assembly
chr17:81,228,277-81,239,092
(GRCh38/hg38)
Size:
10,816 bases
Orientation:
Minus strand

Previous Assembly
chr17:79,202,077-79,212,855
(GRCh37/hg19 by Entrez Gene)
Size:
10,779 bases
Orientation:
Minus strand

chr17:79,202,077-79,212,891
(GRCh37/hg19 by Ensembl)
Size:
10,815 bases
Orientation:
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:
    Q96N21-AP4AT_HUMAN
    Recommended name:
    AP-4 complex accessory subunit Tepsin
    Protein Accession:
    Q96N21
    Secondary Accessions:
    • Q6ZQU0
    • Q6ZSQ9

    Protein attributes for TEPSIN Gene

    Size:
    525 amino acids
    Molecular mass:
    55137 Da
    Quaternary structure:
    • Interacts with AP4B1 and AP4E1; the interaction is direct and mediates the association of TEPSIN with the adapter-like complex 4 (AP-4), a heterotetramer composed of AP4B1, AP4E1, AP4M1 and AP4S1.

    Three dimensional structures from OCA and Proteopedia for TEPSIN Gene

    Alternative splice isoforms for TEPSIN Gene

    UniProtKB/Swiss-Prot:

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

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TEPSIN Gene

Function for TEPSIN Gene

Molecular function for TEPSIN Gene

UniProtKB/Swiss-Prot Function:
Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network.

Phenotypes From GWAS Catalog for TEPSIN Gene

Gene Ontology (GO) - Molecular Function for TEPSIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22472443
genes like me logo Genes that share ontologies with TEPSIN: view
genes like me logo Genes that share phenotypes with TEPSIN: view

Animal Models for TEPSIN Gene

MGI Knock Outs for TEPSIN:
  • Tepsin Tepsin<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TEPSIN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TEPSIN Gene

Localization for TEPSIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for TEPSIN Gene

Golgi apparatus, trans-Golgi network membrane. Peripheral membrane protein. Cytoplasmic vesicle. Cytoplasm, cytosol. Note=Extensively colocalizes with AP-4 which mediates the recruitment of TEPSIN to the trans-Golgi network. {ECO:0000269 PubMed:22472443, ECO:0000269 PubMed:26542808}.

Subcellular locations from

COMPARTMENTS
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
golgi apparatus 5
nucleus 4
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
lysosome 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:0005737 cytoplasm IEA,IDA 22472443
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with TEPSIN: view

Pathways & Interactions for TEPSIN Gene

PathCards logo

SuperPathways for TEPSIN Gene

No Data Available

Gene Ontology (GO) - Biological Process for TEPSIN Gene

None

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

mRNA/cDNA for TEPSIN Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TEPSIN

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

No ASD Table

Relevant External Links for TEPSIN Gene

GeneLoc Exon Structure for
TEPSIN

Expression for TEPSIN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TEPSIN

Evidence on tissue expression from TISSUES for TEPSIN Gene

  • Nervous system(4.6)
No Expression Related Data Available

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia ENTHD2 29 30
  • 98.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C19H17orf56 29
  • 76.52 (n)
ENTHD2 30
  • 63 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ENTHD2 29 30
  • 75.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Enthd2 29
  • 75.76 (n)
Mouse
(Mus musculus)
Mammalia Enthd2 29 30
  • 75.31 (n)
OneToOne
Tepsin 16
Oppossum
(Monodelphis domestica)
Mammalia ENTHD2 30
  • 53 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ENTHD2 30
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C17ORF56 29
  • 63.23 (n)
ENTHD2 30
  • 47 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ENTHD2 30
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia enthd2 29
  • 53.51 (n)
Zebrafish
(Danio rerio)
Actinopterygii enthd2 29 30
  • 53.95 (n)
OneToOne
Species where no ortholog for TEPSIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for TEPSIN (if available)
TreeFam:
Gene Tree for TEPSIN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TEPSIN: view image
Alliance of Genome Resources:
Additional Orthologs for TEPSIN

Paralogs for TEPSIN Gene

No data available for Paralogs for TEPSIN Gene

Variants for TEPSIN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TEPSIN Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs116064505 Benign: not provided 81,229,148(-) G/T
NM_001363764.2(TEPSIN):c.1562C>A (p.Thr521Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs145674229 Benign: not provided 81,228,943(-) C/T
NM_001363764.2(TEPSIN):c.1767G>A (p.Ala589=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs78610767 Benign: not provided 81,229,041(-) C/T
NM_001363764.2(TEPSIN):c.1669G>A (p.Ala557Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TEPSIN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for TEPSIN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TEPSIN
Leiden Open Variation Database (LOVD)
TEPSIN

SNP Genotyping and Copy Number Assays for research

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: COP

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 2
  • hps2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TEPSIN

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
  2. Molecular Basis for the Interaction Between AP4 β4 and its Accessory Protein, Tepsin. (PMID: 26756312) Frazier MN … Jackson LP (Traffic (Copenhagen, Denmark) 2016) 3 4
  3. 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 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for TEPSIN Gene

Sources for TEPSIN Gene