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Aliases for LOC111365204 Gene

Aliases for LOC111365204 Gene

  • CCNC And PRDM13 Intergenic Region DNase I Hypersensitve Site DHS6S1 3
  • DNase1 Hypersensitivity, Chromosome 6, Site 1 3
  • DHS6S1 3

External Ids for LOC111365204 Gene

Summaries for LOC111365204 Gene

Entrez Gene Summary for LOC111365204 Gene

  • This genomic region represents a DNase I hypersensitive site (DHS) that is present in the intergenic region between the cyclin C (CCNC) and PR/SET domain 13 (PRDM13) genes on chromosome 6. Mutations in this region are associated with autosomal dominant retinal macular dystrophy of the North Carolina type (NCMD, also known as MCDR1). Three single nucleotide variants, V1, V2 and V3, which are associated with this disease, have been identified within this DHS. This DHS is also known to be duplicated along with the PRDM13 and/or CCNC genes in forms of NCMD associated with genomic duplication events. It is thought that this DHS regulates the PRDM13 gene, whose expression is negatively correlated with retinal development, and dysregulation or overexpression of this gene results in the NCMD disease. [provided by RefSeq, Nov 2017]

GeneCards Summary for LOC111365204 Gene

LOC111365204 (CCNC And PRDM13 Intergenic Region DNase I Hypersensitve Site DHS6S1) is a Biological Region gene. Diseases associated with LOC111365204 include Macular Dystrophy, Retinal, 1, North Carolina Type.

Additional gene information for LOC111365204 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 LOC111365204 Gene

Genomics for LOC111365204 Gene

Genomic Locations for LOC111365204 Gene

Genomic Locations for LOC111365204 Gene
chr6:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC111365204 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC111365204 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC111365204 Gene

Proteins for LOC111365204 Gene

Post-translational modifications for LOC111365204 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC111365204 Gene

Domains & Families for LOC111365204 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 LOC111365204 Gene

Function for LOC111365204 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 LOC111365204 Gene

Localization for LOC111365204 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 LOC111365204 Gene

Pathways & Interactions for LOC111365204 Gene

PathCards logo

SuperPathways for LOC111365204 Gene

No Data Available

Interacting Proteins for LOC111365204 Gene

Gene Ontology (GO) - Biological Process for LOC111365204 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC111365204 Gene

Drugs & Compounds for LOC111365204 Gene

No Compound Related Data Available

Transcripts for LOC111365204 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC111365204 Gene

No ASD Table

No data available for mRNA/cDNA for LOC111365204 Gene

Expression for LOC111365204 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 LOC111365204 Gene

Orthologs for LOC111365204 Gene

No data available for Orthologs and Evolution for LOC111365204 Gene

Paralogs for LOC111365204 Gene

No data available for Paralogs for LOC111365204 Gene

Variants for LOC111365204 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 LOC111365204 Gene

Disorders for LOC111365204 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC111365204 Gene - From: ClinVar

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC111365204: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC111365204 Gene

Publications for LOC111365204 Gene

  1. Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities. (PMID: 28635424) Cipriani V … Puech B (Ophthalmic genetics 2017) 3 58
  2. Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. (PMID: 28790370) Cipriani V … Moore AT (Scientific reports 2017) 3 58
  3. A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype. (PMID: 28973654) Manes G … Meunier I (Human molecular genetics 2017) 3 58
  4. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. (PMID: 26507665) Small KW … Stone EM (Ophthalmology 2016) 3 58
  5. North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene. (PMID: 27777503) Bowne SJ … Daiger SP (Molecular vision 2016) 3 58

No data available for External Links for LOC111365204 Gene

Products for LOC111365204 Gene

Sources for LOC111365204 Gene

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