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Aliases for LOC100130449 Gene

Aliases for LOC100130449 Gene

  • Uncharacterized LOC100130449 3 5
  • PP14571 5

External Ids for LOC100130449 Gene

Summaries for LOC100130449 Gene

GeneCards Summary for LOC100130449 Gene

LOC100130449 (Uncharacterized LOC100130449) is a Protein Coding gene.

Additional gene information for LOC100130449 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 LOC100130449 Gene

Genomics for LOC100130449 Gene

GeneHancer (GH) Regulatory Elements for LOC100130449 Gene

Promoters and enhancers for LOC100130449 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I240453 Enhancer 1 FANTOM5 ENCODE 559.1 -0.1 -55 5.8 NCOA3 MXI1 KLF1 CLOCK SUZ12 SIN3A ZIC2 THRB RARA CTBP1 LOC100130449 GC02P240457 MIR149 HDLBP PIR45872 GPC1
GH02I240452 Promoter/Enhancer 1.2 Ensembl ENCODE 9 +3.8 3765 1.7 MXI1 KLF1 SUZ12 SIN3A ZIC2 ZFHX2 GLIS2 POLR2A PATZ1 EZH2 LOC100130449 GC02P240457 GC02P240440 GPC1
GH02I240513 Enhancer 1.1 Ensembl ENCODE 5.5 -57.5 -57476 1.4 HDGF PKNOX1 RB1 ARID4B SIN3A BATF IRF4 ZNF48 ZSCAN9 RAD21 CAPN10 LOC100130449 GPR35 PIR44694 GC02P240497 ANKMY1
GH02I240449 Enhancer 0.7 ENCODE 8.2 +5.9 5924 2.5 ZNF146 ESRRA KLF1 CLOCK ZNF449 KLF17 EBF1 ZIC2 ZFHX2 GLIS2 LOC100130449 GC02P240457 GC02P240440 GPC1
GH02I240519 Enhancer 0.5 Ensembl 11.4 -63.3 -63347 1.4 POLR2A SOX6 TARDBP CDC5L FOXA1 EZH2 MIR149 LOC100130449 GPC1 ANKMY1 PIR44694 GC02P240497
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LOC100130449 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC100130449 Gene

Genomic Locations for LOC100130449 Gene
chr2:240,449,315-240,456,714
(GRCh38/hg38)
Size:
7,400 bases
Orientation:
Minus strand
chr2:241,388,732-241,396,131
(GRCh37/hg19)

Genomic View for LOC100130449 Gene

Genes around LOC100130449 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC100130449 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100130449 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100130449 Gene

Proteins for LOC100130449 Gene

Post-translational modifications for LOC100130449 Gene

No Post-translational modifications

Other Protein References for LOC100130449 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for LOC100130449 Gene

Domains & Families for LOC100130449 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 LOC100130449 Gene

Function for LOC100130449 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 LOC100130449 Gene

Localization for LOC100130449 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 LOC100130449 Gene

Pathways & Interactions for LOC100130449 Gene

SuperPathways for LOC100130449 Gene

No Data Available

Interacting Proteins for LOC100130449 Gene

Gene Ontology (GO) - Biological Process for LOC100130449 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC100130449 Gene

Drugs & Compounds for LOC100130449 Gene

No Compound Related Data Available

Transcripts for LOC100130449 Gene

mRNA/cDNA for LOC100130449 Gene

(1) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100130449 Gene

No ASD Table

Relevant External Links for LOC100130449 Gene

GeneLoc Exon Structure for
LOC100130449

Expression for LOC100130449 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 LOC100130449 Gene

Orthologs for LOC100130449 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for LOC100130449 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 97 (a)
OneToOne
Species where no ortholog for LOC100130449 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LOC100130449 Gene

ENSEMBL:
Gene Tree for LOC100130449 (if available)
TreeFam:
Gene Tree for LOC100130449 (if available)

Paralogs for LOC100130449 Gene

No data available for Paralogs for LOC100130449 Gene

Variants for LOC100130449 Gene

Sequence variations from dbSNP and Humsavar for LOC100130449 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000087580 -- 240,457,918(-) T/C upstream_transcript_variant
rs1000205312 -- 240,455,237(-) C/T intron_variant
rs1000555968 -- 240,455,110(-) A/G intron_variant
rs1000941104 -- 240,454,536(-) G/A intron_variant
rs1000995299 -- 240,457,688(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LOC100130449 Gene

Variant ID Type Subtype PubMed ID
dgv7359n54 CNV loss 21841781
esv2721931 CNV deletion 23290073
esv2759119 CNV gain 17122850
esv3594798 CNV gain 21293372
nsv1071663 CNV deletion 25765185
nsv1122025 CNV deletion 24896259
nsv1126584 CNV deletion 24896259
nsv460157 CNV loss 19166990
nsv460158 CNV loss 19166990
nsv508899 CNV insertion 20534489
nsv516179 CNV loss 19592680
nsv584809 CNV gain 21841781
nsv584810 CNV loss 21841781
nsv819854 CNV gain 19587683
nsv834585 CNV loss 17160897
nsv955288 CNV deletion 24416366
nsv997288 CNV gain 25217958

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC100130449 Gene

Disorders for LOC100130449 Gene

Additional Disease Information for LOC100130449

No disorders were found for LOC100130449 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LOC100130449 Gene

Publications for LOC100130449 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 3 58
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 3 58

Products for LOC100130449 Gene

Sources for LOC100130449 Gene

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