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Aliases for ENSG00000250349 Gene

Aliases for ENSG00000250349 Gene

  • AF241726.2 5

External Ids for ENSG00000250349 Gene

Previous GeneCards Identifiers for ENSG00000250349 Gene

  • GC0XP037210

Summaries for ENSG00000250349 Gene

GeneCards Summary for ENSG00000250349 Gene

ENSG00000250349 is a Protein Coding gene. Diseases associated with ENSG00000250349 include Epileptic Encephalopathy, Early Infantile, 9. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is TSPAN7.

Additional gene information for ENSG00000250349 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 ENSG00000250349 Gene

Genomics for ENSG00000250349 Gene

Regulatory Elements for ENSG00000250349 Gene

Enhancers for ENSG00000250349 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
GH0XH037381 1.1 Ensembl ENCODE 0.3 +31.8 31779 0.2 FEZF1 RFX5 TCF12 ZNF366 ZSCAN5C FOS USF2 CEBPB ZEB2 ZNF843 ENSG00000250349 LOC100420326
GH0XH037371 0.2 Ensembl 0.3 +22.6 22571 0.2 ENSG00000250349 LOC100420326
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENSG00000250349 on UCSC Golden Path with GeneCards custom track

Promoters for ENSG00000250349 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000245649 470 2400 KLF17 SIN3A ZNF2 EGR1 ZNF366 EGR2 ZNF362 SMAD5 ZEB2 SMARCB1

Genomic Locations for ENSG00000250349 Gene

Genomic Locations for ENSG00000250349 Gene
1,338,345 bases
Plus strand

Genomic View for ENSG00000250349 Gene

Genes around ENSG00000250349 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSG00000250349 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSG00000250349 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for ENSG00000250349 Gene

Proteins for ENSG00000250349 Gene

  • Protein details for ENSG00000250349 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    Recommended name:
    Protein Accession:

    Protein attributes for ENSG00000250349 Gene

    279 amino acids
    Molecular mass:
    31091 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ENSG00000250349 Gene

Protein Expression for ENSG00000250349 Gene

Post-translational modifications for ENSG00000250349 Gene

No Post-translational modifications

Other Protein References for ENSG00000250349 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for ENSG00000250349 Gene

Domains & Families for ENSG00000250349 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ENSG00000250349: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ENSG00000250349 Gene

Function for ENSG00000250349 Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000250349 Gene

Localization for ENSG00000250349 Gene

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 ENSG00000250349 gene
Compartment Confidence
plasma membrane 3
extracellular 2
cytoskeleton 2
lysosome 2
endosome 2
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ENSG00000250349 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ENSG00000250349: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ENSG00000250349 Gene

Pathways & Interactions for ENSG00000250349 Gene

SuperPathways for ENSG00000250349 Gene

No Data Available

Interacting Proteins for ENSG00000250349 Gene

Gene Ontology (GO) - Biological Process for ENSG00000250349 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IBA --
genes like me logo Genes that share ontologies with ENSG00000250349: view

No data available for Pathways by source and SIGNOR curated interactions for ENSG00000250349 Gene

Drugs & Compounds for ENSG00000250349 Gene

No Compound Related Data Available

Transcripts for ENSG00000250349 Gene

mRNA/cDNA for ENSG00000250349 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ENSG00000250349 Gene

No ASD Table

Relevant External Links for ENSG00000250349 Gene

GeneLoc Exon Structure for

Expression for ENSG00000250349 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENSG00000250349 Gene

mRNA expression in normal human tissues for ENSG00000250349 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from PaxDb, MaxQB, and MOPED for ENSG00000250349 Gene

Evidence on tissue expression from TISSUES for ENSG00000250349 Gene

  • Blood(2)
genes like me logo Genes that share expression patterns with ENSG00000250349: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENSG00000250349 Gene

Orthologs for ENSG00000250349 Gene

This gene was present in the common ancestor of animals.

Orthologs for ENSG00000250349 Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Tspan7 34
  • 89 (a)
Gm5334 34
  • 59 (a)
(Bos Taurus)
Mammalia TSPAN7 34
  • 88 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
-- 34
  • 64 (a)
(Canis familiaris)
Mammalia -- 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
(Gallus gallus)
Aves -- 34
  • 82 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 84 (a)
(Danio rerio)
Actinopterygii tspan7b 34
  • 75 (a)
(Caenorhabditis elegans)
Secernentea tsp-14 34
  • 12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7928 34
  • 34 (a)
Species where no ortholog for ENSG00000250349 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ENSG00000250349 Gene

Gene Tree for ENSG00000250349 (if available)
Gene Tree for ENSG00000250349 (if available)

Paralogs for ENSG00000250349 Gene

Paralogs for ENSG00000250349 Gene

genes like me logo Genes that share paralogs with ENSG00000250349: view

Variants for ENSG00000250349 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Relevant External Links for ENSG00000250349 Gene

Disorders for ENSG00000250349 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENSG00000250349 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 9
  • early infantile epileptic encephalopathy 9
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ENSG00000250349: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for ENSG00000250349 Gene

Publications for ENSG00000250349 Gene

No publications were found for ENSG00000250349 Gene.

Products for ENSG00000250349 Gene

Sources for ENSG00000250349 Gene

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