Aliases for SLC7A2-IT1 Gene

Aliases for SLC7A2-IT1 Gene

  • SLC7A2 Intronic Transcript 1 2 5
  • SLC7A2-IT1 5

External Ids for SLC7A2-IT1 Gene

Previous GeneCards Identifiers for SLC7A2-IT1 Gene

  • GC00U936908

Summaries for SLC7A2-IT1 Gene

GeneCards Summary for SLC7A2-IT1 Gene

SLC7A2-IT1 (SLC7A2 Intronic Transcript 1) is an Uncategorized gene. Diseases associated with SLC7A2-IT1 include Ravine Syndrome.

Additional gene information for SLC7A2-IT1 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 SLC7A2-IT1 Gene

Genomics for SLC7A2-IT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC7A2-IT1 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
GH08J017500 Promoter/Enhancer 0.8 Ensembl dbSUPER 250.7 +0.3 288 0.2 CEBPB PRDM6 ATF3 CEBPG ENSG00000280453 ENSG00000279271 HSALNG0063670 HSALNG0063671 HSALNG0063672 SLC7A2-IT1 MTMR7 SLC7A2 ENSG00000279932 PDGFRL
GH08J017501 Enhancer 0.4 ENCODE dbSUPER 250.7 +1.8 1795 0.2 ZBTB33 SLC7A2-IT1 MTMR7 ENSG00000279932 SLC7A2 PDGFRL
GH08J017506 Enhancer 0.8 ENCODE dbSUPER 0.4 +6.7 6743 0.7 CEBPA SMAD4 RXRA RARA THRB BCL6 CREM SOX5 HNF4A ZNF362 ENSG00000279932 SLC7A2-IT1 SLC7A2 PDGFRL
GH08J017505 Enhancer 0.3 Ensembl dbSUPER 0.7 +4.1 4089 0.2 SLC7A2-IT1 ENSG00000279932 SLC7A2 PDGFRL
GH08J017504 Enhancer 0.5 ENCODE dbSUPER 0.4 +5.1 5143 1 RFX1 CEBPB ENSG00000279932 SLC7A2-IT1 SLC7A2 PDGFRL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC7A2-IT1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for SLC7A2-IT1 Gene

Latest Assembly
chr8:17,500,012-17,500,605
(GRCh38/hg38)
Size:
594 bases
Orientation:
Plus strand

Genomic View for SLC7A2-IT1 Gene

Genes around SLC7A2-IT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A2-IT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A2-IT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for SLC7A2-IT1 Gene

Proteins for SLC7A2-IT1 Gene

Post-translational modifications for SLC7A2-IT1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SLC7A2-IT1 Gene

Domains & Families for SLC7A2-IT1 Gene

Gene Families for SLC7A2-IT1 Gene

genes like me logo Genes that share domains with SLC7A2-IT1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SLC7A2-IT1 Gene

Function for SLC7A2-IT1 Gene

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 SLC7A2-IT1 Gene

Localization for SLC7A2-IT1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for SLC7A2-IT1 Gene

Pathways & Interactions for SLC7A2-IT1 Gene

PathCards logo

SuperPathways for SLC7A2-IT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC7A2-IT1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for SLC7A2-IT1 Gene

Drugs & Compounds for SLC7A2-IT1 Gene

No Compound Related Data Available

Transcripts for SLC7A2-IT1 Gene

mRNA/cDNA for SLC7A2-IT1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A2-IT1 Gene

No ASD Table

Relevant External Links for SLC7A2-IT1 Gene

GeneLoc Exon Structure for
SLC7A2-IT1

Expression for SLC7A2-IT1 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 SLC7A2-IT1 Gene

Orthologs for SLC7A2-IT1 Gene

Evolution for SLC7A2-IT1 Gene

ENSEMBL:
Gene Tree for SLC7A2-IT1 (if available)
TreeFam:
Gene Tree for SLC7A2-IT1 (if available)

No data available for Orthologs for SLC7A2-IT1 Gene

Paralogs for SLC7A2-IT1 Gene

No data available for Paralogs for SLC7A2-IT1 Gene

Variants for SLC7A2-IT1 Gene

Additional Variant Information for SLC7A2-IT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A2-IT1

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) and Variation tolerance for SLC7A2-IT1 Gene

Disorders for SLC7A2-IT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC7A2-IT1 Gene - From: ORP

Disorder Aliases PubMed IDs
ravine syndrome
  • progressive encephalopathy with severe infantile anorexia
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SLC7A2-IT1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for SLC7A2-IT1 Gene

Publications for SLC7A2-IT1 Gene

  1. Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy. (PMID: 22411793) Cartault F … Henrion-Caude A (Proceedings of the National Academy of Sciences of the United States of America 2012) 2

No data available for Mastermind for SLC7A2-IT1 Gene

Products for SLC7A2-IT1 Gene

Sources for SLC7A2-IT1 Gene