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

Aliases for LOC108228208 Gene

Aliases for LOC108228208 Gene

  • 7q11.23 Proximal Recombination Region 3

External Ids for LOC108228208 Gene

Summaries for LOC108228208 Gene

Entrez Gene Summary for LOC108228208 Gene

  • This region is known to undergo non-allelic homologous recombination (NAHR) with another region, the 7q11.23 distal recombination region, found about 1.2 Mb centromere-distal to this region, in direct orientation relative to this region. This region is found within a GC-rich region of a low-copy repeat, known as the proximal HIP1-LCR. NAHR between this region and the 7q11.23 distal recombination region can result in deletions and duplications of the intervening sequence. Since both of these regions are located centromere-distal to the Williams-Beuren syndrome recombination regions, the 1.2 Mb deletion that can result from NAHR between this region and the 7q11.23 distal recombination region is known as the distal 7q11.23 deletion. This deletion involves multiple genes, including the huntingtin interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma (YWHAG) genes. Phenotypic consequences of the deletion can include developmental delays, epilepsy and neurobehavioral problems, but incomplete penetrance and variable expressivity has been observed. A recombination breakpoint from individuals with the genomic rearrangement is indicated as an NAHR sub-region on the record. [provided by RefSeq, Jun 2016]

GeneCards Summary for LOC108228208 Gene

LOC108228208 (7q11.23 Proximal Recombination Region) is a Biological Region gene. Diseases associated with LOC108228208 include Williams-Beuren Syndrome.

Additional gene information for LOC108228208 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC108228208 Gene

Genomics for LOC108228208 Gene

Genomic Locations for LOC108228208 Gene

Genomic Locations for LOC108228208 Gene
chr7:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108228208 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC108228208 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC108228208 Gene

Proteins for LOC108228208 Gene

Post-translational modifications for LOC108228208 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108228208 Gene

Domains & Families for LOC108228208 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC108228208 Gene

Function for LOC108228208 Gene

Animal Model 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 LOC108228208 Gene

Localization for LOC108228208 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 LOC108228208 Gene

Pathways & Interactions for LOC108228208 Gene

PathCards logo

SuperPathways for LOC108228208 Gene

No Data Available

Interacting Proteins for LOC108228208 Gene

Gene Ontology (GO) - Biological Process for LOC108228208 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC108228208 Gene

Drugs & Compounds for LOC108228208 Gene

No Compound Related Data Available

Transcripts for LOC108228208 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108228208 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108228208 Gene

Expression for LOC108228208 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 LOC108228208 Gene

Orthologs for LOC108228208 Gene

No data available for Orthologs and Evolution for LOC108228208 Gene

Paralogs for LOC108228208 Gene

No data available for Paralogs for LOC108228208 Gene

Variants for LOC108228208 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 Additional Variant Information for LOC108228208 Gene

Disorders for LOC108228208 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC108228208 Gene - From: GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC108228208: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108228208 Gene

Publications for LOC108228208 Gene

  1. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. (PMID: 23756441) Fusco C … Merla G (European journal of human genetics : EJHG 2014) 3 58
  2. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. (PMID: 21109226) Ramocki MB … Stankiewicz P (American journal of human genetics 2010) 3 58

No data available for External Links for LOC108228208 Gene

Products for LOC108228208 Gene

Sources for LOC108228208 Gene

Content
Loading form....