Aliases for ENSG00000280893 Gene

Aliases for ENSG00000280893 Gene

  • Uncharacterized Protein 13
  • Novel Transcript 5
  • AC009133.6 5

External Ids for ENSG00000280893 Gene

Previous GeneCards Identifiers for ENSG00000280893 Gene

  • GC16P029858
  • GC16P029980
  • GC16P029996
  • GC16P030012
  • GC16P030049
  • GC16P029872
  • GC16P029881
  • GC16P029890
  • GC16P029900
  • GC16P029909
  • GC16P029932
  • GC16P029953
  • GC16P029966
  • GC16P030095

Summaries for ENSG00000280893 Gene

GeneCards Summary for ENSG00000280893 Gene

ENSG00000280893 is a Protein Coding gene. An important paralog of this gene is PRRT2.

Additional gene information for ENSG00000280893 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENSG00000280893 Gene

Genomics for ENSG00000280893 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ENSG00000280893 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J029803 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -1.5 -1519 14.9 ZSCAN16 CHD2 TBP ZBTB10 SP1 BCL11A MXD4 FEZF1 CEBPA SIX5 PRRT2 ENSG00000280893 LOC112268170 MAZ piR-45320 piR-53734 piR-50884 piR-51020 PAGR1 SRCAP
GH16J029819 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.4 +10.3 10271 8.3 CEBPA NR2C1 IKZF1 ZNF217 POLR2A CTCF ZIC2 HOMEZ SIN3A RAD51 MVP ENSG00000238045 ENSG00000261766 SH2B1 ZNF785 DOC2A TAOK2 TMEM219 INO80E HIRIP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENSG00000280893 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for ENSG00000280893 Gene

Latest Assembly
chr16:29,812,261-29,820,092
(GRCh38/hg38)
Size:
7,832 bases
Orientation:
Plus strand

Genomic View for ENSG00000280893 Gene

Genes around ENSG00000280893 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSG00000280893 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSG00000280893 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for ENSG00000280893 Gene

Proteins for ENSG00000280893 Gene

  • Protein details for ENSG00000280893 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A0G2JLL6-A0A0G2JLL6_HUMAN
    Recommended name:
    Uncharacterized protein
    Protein Accession:
    A0A0G2JLL6

    Protein attributes for ENSG00000280893 Gene

    Size:
    359 amino acids
    Molecular mass:
    36833 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ENSG00000280893 Gene

Post-translational modifications for ENSG00000280893 Gene

No Post-translational modifications

Other Protein References for ENSG00000280893 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for ENSG00000280893 Gene

Domains & Families for ENSG00000280893 Gene

Gene Families for ENSG00000280893 Gene

Unknown:
  • Belongs to the CD225/Dispanin family.

Protein Domains for ENSG00000280893 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with ENSG00000280893: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ENSG00000280893 Gene

Function for ENSG00000280893 Gene

Phenotypes From GWAS Catalog for ENSG00000280893 Gene

Gene Ontology (GO) - Molecular Function for ENSG00000280893 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017075 syntaxin-1 binding IEA --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with ENSG00000280893: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000280893 Gene

Localization for ENSG00000280893 Gene

Gene Ontology (GO) - Cellular Components for ENSG00000280893 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0008021 synaptic vesicle IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IEA --
genes like me logo Genes that share ontologies with ENSG00000280893: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for ENSG00000280893 Gene

Pathways & Interactions for ENSG00000280893 Gene

PathCards logo

SuperPathways for ENSG00000280893 Gene

No Data Available

Interacting Proteins for ENSG00000280893 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 14)
STRING Interaction Network
Selected Interacting proteins: ENSP00000476774 for ENSG00000280893 Gene via STRING

Gene Ontology (GO) - Biological Process for ENSG00000280893 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031629 synaptic vesicle fusion to presynaptic active zone membrane IEA --
GO:0035544 negative regulation of SNARE complex assembly IEA --
GO:0099502 calcium-dependent activation of synaptic vesicle fusion IEA --
GO:1905513 negative regulation of short-term synaptic potentiation IEA --
genes like me logo Genes that share ontologies with ENSG00000280893: view

No data available for Pathways by source and SIGNOR curated interactions for ENSG00000280893 Gene

Drugs & Compounds for ENSG00000280893 Gene

No Compound Related Data Available

Transcripts for ENSG00000280893 Gene

mRNA/cDNA for ENSG00000280893 Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ENSG00000280893 Gene

No ASD Table

Relevant External Links for ENSG00000280893 Gene

GeneLoc Exon Structure for
ENSG00000280893

Expression for ENSG00000280893 Gene

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENSG00000280893 Gene

Orthologs for ENSG00000280893 Gene

Evolution for ENSG00000280893 Gene

ENSEMBL:
Gene Tree for ENSG00000280893 (if available)
TreeFam:
Gene Tree for ENSG00000280893 (if available)

No data available for Orthologs for ENSG00000280893 Gene

Paralogs for ENSG00000280893 Gene

Paralogs for ENSG00000280893 Gene

genes like me logo Genes that share paralogs with ENSG00000280893: view

Variants for ENSG00000280893 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for ENSG00000280893 Gene

Disorders for ENSG00000280893 Gene

No disorders were found for ENSG00000280893 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for ENSG00000280893 Gene

Publications for ENSG00000280893 Gene

  1. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 13

No data available for Mastermind for ENSG00000280893 Gene

Products for ENSG00000280893 Gene

Sources for ENSG00000280893 Gene