This biological region is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the 10p13 CCDC3 medial Alu-mediated recombination region located about 95 kb centromere-distal to this region, in direct orientation. NAHR is also observed with the 10p13 OPTN proximal Alu-mediated recombination region, located just centromere-proximal of this region,... See more...

Aliases for LOC108903148 Gene

Aliases for LOC108903148 Gene

  • 10p13 OPTN Distal Alu-Mediated Recombination Region 3
  • 10p13 Optineurin Distal Alu-Mediated Recombination Region 3

External Ids for LOC108903148 Gene

Summaries for LOC108903148 Gene

Entrez Gene Summary for LOC108903148 Gene

  • This biological region is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the 10p13 CCDC3 medial Alu-mediated recombination region located about 95 kb centromere-distal to this region, in direct orientation. NAHR is also observed with the 10p13 OPTN proximal Alu-mediated recombination region, located just centromere-proximal of this region, in direct orientation. NAHR events between these regions can lead to deletions of the intervening sequence, and such deletions are thought to be associated with amyotrophic lateral sclerosis (ALS). NAHR sub-regions are all found within Alu repeat elements, and the repetitive nature of these elements may play an important role in providing substrates for recombination. HapMap data shows an elevated recombination rate in this region for the CEU population. The YRI population also displays increased recombination rates, but over a very wide range of sequences. [provided by RefSeq, Oct 2016]

GeneCards Summary for LOC108903148 Gene

LOC108903148 (10p13 OPTN Distal Alu-Mediated Recombination Region) is a Biological Region gene. Diseases associated with LOC108903148 include Lateral Sclerosis and Motor Neuron Disease.

Additional gene information for LOC108903148 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC108903148 Gene

Genomics for LOC108903148 Gene

Genomic Locations for LOC108903148 Gene

Genomic Locations for LOC108903148 Gene
chr10:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108903148 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC108903148 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC108903148 Gene

Proteins for LOC108903148 Gene

Post-translational modifications for LOC108903148 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108903148 Gene

Domains & Families for LOC108903148 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC108903148 Gene

Function for LOC108903148 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 LOC108903148 Gene

Localization for LOC108903148 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 LOC108903148 Gene

Pathways & Interactions for LOC108903148 Gene

PathCards logo

SuperPathways for LOC108903148 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC108903148 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC108903148 Gene

Drugs & Compounds for LOC108903148 Gene

No Compound Related Data Available

Transcripts for LOC108903148 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108903148 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108903148 Gene

Expression for LOC108903148 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 LOC108903148 Gene

Orthologs for LOC108903148 Gene

No data available for Orthologs and Evolution for LOC108903148 Gene

Paralogs for LOC108903148 Gene

No data available for Paralogs for LOC108903148 Gene

Variants for LOC108903148 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC108903148 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
703912 Benign: not provided 13,109,269( ) C/T SYNONYMOUS_VARIANT
722000 Likely Benign: not provided 13,109,215( ) C/T SYNONYMOUS_VARIANT
756457 Likely Benign: not provided 13,109,200( ) C/T SYNONYMOUS_VARIANT
788066 Likely Benign: not provided 13,109,298( ) G/A INTRON_VARIANT
788091 Likely Benign: not provided 13,110,368( ) G/A SYNONYMOUS_VARIANT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC108903148 Gene

Disorders for LOC108903148 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LOC108903148 Gene - From: GeneCards

Disorder Aliases PubMed IDs
lateral sclerosis
  • adult-onset primary lateral sclerosis
motor neuron disease
  • anterior horn cell disease
glaucoma, normal tension
  • glaucoma, normal tension, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC108903148: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108903148 Gene

Publications for LOC108903148 Gene

  1. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. (PMID: 25943890) Pottier C … Rademakers R (Acta neuropathologica 2015) 3 54
  2. Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese. (PMID: 22402017) Iida A … Ikegawa S (Neurobiology of aging 2012) 3 54
  3. Mutations of optineurin in amyotrophic lateral sclerosis. (PMID: 20428114) Maruyama H … Kawakami H (Nature 2010) 3 54
  4. Fine-scale recombination rate differences between sexes, populations and individuals. (PMID: 20981099) Kong A … Stefansson K (Nature 2010) 3 54
  5. Mechanisms for human genomic rearrangements. (PMID: 19014668) Gu W … Lupski JR (PathoGenetics 2008) 3 54

No data available for Mastermind for LOC108903148 Gene

Products for LOC108903148 Gene

Sources for LOC108903148 Gene