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Aliases for LOC108745275 Gene

Aliases for LOC108745275 Gene

  • Distal SMS-REP Block A Recombination Region 3
  • Distal Potocki-Lupski Syndrome Block A Repeat Recombination Region 3
  • Distal Smith-Magenis Syndrome Repeat Block A Recombination Region 3

External Ids for LOC108745275 Gene

Summaries for LOC108745275 Gene

Entrez Gene Summary for LOC108745275 Gene

  • This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat (LCR) region, the proximal SMS-REP recombination block A region, which is located about 3.6 Mb centromere-proximal to this region. A third LCR, middle SMS-REP is located in reverse orientation, between the distal and proximal SMS-REPs. The distal SMS-REP LCR is about 176 kb and is composed of four homology blocks named A-D, and this recombination region is located within block A. NAHR between the proximal and distal SMS-REP recombination regions can result in either duplications or deletions of the intervening sequence, including the retinoic acid induced 1 (RAI1) gene. Deletion events are the cause of the autosomal dominant Smith-Magenis syndrome (SMS), while the reciprocal duplication is associated with Potocki-Lupski syndrome (PTLS), also an autosomal dominant disease. NAHR events involving another recombination region, the distal SMS-REP block C recombination region, about 30 kb centromere-proximal to this region can result in a 3.7 Mb deletion or duplication. A recurring, but less frequent duplication/deletion that is larger in size, but also causes PTLS/SMS has also been described (see the LCR17pA and LCR17pD recombination regions). [provided by RefSeq, Sep 2016]

GeneCards Summary for LOC108745275 Gene

LOC108745275 (Distal SMS-REP Block A Recombination Region) is a Biological Region gene. Diseases associated with LOC108745275 include Potocki-Lupski Syndrome and Smith-Magenis Syndrome.

Additional gene information for LOC108745275 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 LOC108745275 Gene

Genomics for LOC108745275 Gene

Genomic Locations for LOC108745275 Gene

Genomic Locations for LOC108745275 Gene
chr17:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108745275 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC108745275 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC108745275 Gene

Proteins for LOC108745275 Gene

Post-translational modifications for LOC108745275 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108745275 Gene

Domains & Families for LOC108745275 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 LOC108745275 Gene

Function for LOC108745275 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 LOC108745275 Gene

Localization for LOC108745275 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 LOC108745275 Gene

Pathways & Interactions for LOC108745275 Gene

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SuperPathways for LOC108745275 Gene

No Data Available

Interacting Proteins for LOC108745275 Gene

Gene Ontology (GO) - Biological Process for LOC108745275 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC108745275 Gene

Drugs & Compounds for LOC108745275 Gene

No Compound Related Data Available

Transcripts for LOC108745275 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108745275 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108745275 Gene

Expression for LOC108745275 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 LOC108745275 Gene

Orthologs for LOC108745275 Gene

No data available for Orthologs and Evolution for LOC108745275 Gene

Paralogs for LOC108745275 Gene

No data available for Paralogs for LOC108745275 Gene

Variants for LOC108745275 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 LOC108745275 Gene

Disorders for LOC108745275 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LOC108745275 Gene - From: GeneCards

Disorder Aliases PubMed IDs
potocki-lupski syndrome
  • pls
smith-magenis syndrome
  • sms
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC108745275: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108745275 Gene

Publications for LOC108745275 Gene

  1. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. (PMID: 17357070) Potocki L … Lupski JR (American journal of human genetics 2007) 3 58
  2. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. (PMID: 16152635) Yatsenko SA … Potocki L (American journal of medical genetics. Part A 2005) 3 58
  3. Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. (PMID: 15690371) Vlangos CN … Elsea SH (American journal of medical genetics. Part A 2005) 3 58
  4. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. (PMID: 14614393) Potocki L … Lupski JR (Genetics in medicine : official journal of the American College of Medical Genetics 2003) 3 58
  5. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. (PMID: 14639526) Bi W … Lupski JR (American journal of human genetics 2003) 3 58

No data available for External Links for LOC108745275 Gene

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