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Aliases for LOC643387 Gene

Aliases for LOC643387 Gene

  • TAR DNA Binding Protein Pseudogene 3
  • AC012485.1 5

External Ids for LOC643387 Gene

Previous GeneCards Identifiers for LOC643387 Gene

  • GC02P238805
  • GC02P239141
  • GC02P239148

Summaries for LOC643387 Gene

GeneCards Summary for LOC643387 Gene

LOC643387 (TAR DNA Binding Protein Pseudogene) is a Pseudogene. Diseases associated with LOC643387 include Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions.

Additional gene information for LOC643387 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC643387 Gene

Genomics for LOC643387 Gene

Regulatory Elements for LOC643387 Gene

Enhancers for LOC643387 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H238239 1.6 Ensembl ENCODE dbSUPER 44.3 +10.1 10106 5 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B ZNF143 ZNF548 FOS LOC643387 ILKAP LOC151174 TRAF3IP1 ERFE PER2 LOC105373961 ESPNL HES6 GC02M238297
GH02H238234 1.2 ENCODE dbSUPER 48.7 +2.9 2912 0 HDAC1 ELF3 TBP MLX ZFP64 ARID4B ZNF76 DEAF1 SIN3A DMAP1 LOC643387 ERFE PIR41220 HES6
GH02H238220 1.3 FANTOM5 ENCODE dbSUPER 43.3 -10.8 -10802 0 ELF3 TBP DRAP1 ZFP64 HLF CEBPB NFYC CEBPG KAT8 ATF4 LOC643387 ERFE TRAF3IP1 RAMP1 PIR35803 PIR46867
GH02H238231 0.9 ENCODE 48.6 0.0 -10 0 HDAC1 TBP RB1 DEAF1 RAD21 ELK1 EGR1 ZNF143 CREM THAP11 LOC643387 LOC151174 PIR62536
GH02H238283 1.7 FANTOM5 ENCODE dbSUPER 15.8 +56.0 55974 7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 RBM44 LOC151174 COL6A3 LOC643387 TRAF3IP1 ERFE SCLY ENSG00000283635 PIR48935
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LOC643387 on UCSC Golden Path with GeneCards custom track

Promoters for LOC643387 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000132797 -84 401 HDAC1 TBP RB1 DEAF1 RAD21 EGR1 ZNF143 CREM THAP11 HCFC1

Genomic Location for LOC643387 Gene

Chromosome:
2
Start:
238,231,684 bp from pter
End:
238,255,633 bp from pter
Size:
23,950 bases
Orientation:
Plus strand

Genomic View for LOC643387 Gene

Genes around LOC643387 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC643387 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC643387 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC643387 Gene

Proteins for LOC643387 Gene

Post-translational modifications for LOC643387 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC643387 Gene

Domains & Families for LOC643387 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 LOC643387 Gene

Function for LOC643387 Gene

Phenotypes From GWAS Catalog for LOC643387 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC643387 Gene

Localization for LOC643387 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 LOC643387 Gene

Pathways & Interactions for LOC643387 Gene

SuperPathways for LOC643387 Gene

No Data Available

Interacting Proteins for LOC643387 Gene

Gene Ontology (GO) - Biological Process for LOC643387 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC643387 Gene

Drugs & Compounds for LOC643387 Gene

No Compound Related Data Available

Transcripts for LOC643387 Gene

mRNA/cDNA for LOC643387 Gene

(1) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LOC643387 Gene

TAR DNA binding protein pseudogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LOC643387 Gene

No ASD Table

Relevant External Links for LOC643387 Gene

GeneLoc Exon Structure for
LOC643387

Expression for LOC643387 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LOC643387 Gene

mRNA expression in normal human tissues for LOC643387 Gene

SOURCE GeneReport for Unigene cluster for LOC643387 Gene:

Hs.598359
genes like me logo Genes that share expression patterns with LOC643387: view

No data available for 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 LOC643387 Gene

Orthologs for LOC643387 Gene

Evolution for LOC643387 Gene

ENSEMBL:
Gene Tree for LOC643387 (if available)
TreeFam:
Gene Tree for LOC643387 (if available)

No data available for Orthologs for LOC643387 Gene

Paralogs for LOC643387 Gene

No data available for Paralogs for LOC643387 Gene

Variants for LOC643387 Gene

Sequence variations from dbSNP and Humsavar for LOC643387 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000148712 -- 238,233,046(+) AATAC(A/T)TATGT nc-transcript-variant, upstream-variant-2KB
rs1000457272 -- 238,234,452(+) GGCCT(C/T)GGCTC downstream-variant-500B
rs1000462020 -- 238,230,879(+) CAGCG(A/C)CATGG intron-variant, upstream-variant-2KB
rs1000692613 -- 238,230,871(+) AGGTA(G/T)TACAG intron-variant, upstream-variant-2KB
rs1000764486 -- 238,234,697(+) GGTCA(C/T)GGTCA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for LOC643387 Gene

Variant ID Type Subtype PubMed ID
nsv1000252 CNV loss 25217958
nsv584761 CNV gain 21841781
nsv961941 CNV duplication 23825009

Variation tolerance for LOC643387 Gene

Gene Damage Index Score: 0.02; 0.54% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for LOC643387 Gene

Disorders for LOC643387 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC643387 Gene - From: GeneCards

Disorder Aliases PubMed IDs
frontotemporal lobar degeneration with ubiquitin-positive inclusions
  • aphasia, primary progressive
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for LOC643387

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LOC643387
genes like me logo Genes that share disorders with LOC643387: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LOC643387 Gene

Publications for LOC643387 Gene

  1. [Parkinson disease and amyotrophic lateral sclerosis. Tauopathies, TDP-43 and SOD mutations]. (PMID: 18808763) Le Forestier N … Meininger V (Revue neurologique 2009) 3 60
  2. [Recent progress in ALS research: ALS and TDP-43]. (PMID: 19048944) Kuzuhara S (Rinsho shinkeigaku = Clinical neurology 2008) 3 60
  3. Motor neuron disease and frontotemporal lobar degeneration: a tale of two disorders linked to TDP-43. (PMID: 18097163) Elman LB … Grossman M (Neuro-Signals 2008) 3 60
  4. TAR-DNA binding protein 43 in Pick disease. (PMID: 18091558) Freeman SH … Frosch MP (Journal of neuropathology and experimental neurology 2008) 3 60
  5. Evidence that TDP-43 is not the major ubiquitinated target within the pathological inclusions of amyotrophic lateral sclerosis. (PMID: 18090923) Sanelli T … Robertson J (Journal of neuropathology and experimental neurology 2007) 3 60

Products for LOC643387 Gene

Sources for LOC643387 Gene

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