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Aliases for LOC100129940 Gene

Aliases for LOC100129940 Gene

  • Uncharacterized LOC100129940 3
  • AC090673.1 5

External Ids for LOC100129940 Gene

Previous GeneCards Identifiers for LOC100129940 Gene

  • GC12M064536
  • GC12U901170
  • GC12M066251

Summaries for LOC100129940 Gene

GeneCards Summary for LOC100129940 Gene

LOC100129940 (Uncharacterized LOC100129940) is a Protein Coding gene.

Additional gene information for LOC100129940 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 LOC100129940 Gene

Genomics for LOC100129940 Gene

GeneHancer (GH) Regulatory Elements for LOC100129940 Gene

Promoters and enhancers for LOC100129940 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
GH12I065875 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 550.8 +1.8 1752 13.1 PKNOX1 ZNF133 SIN3A FEZF1 ZNF213 ATF7 KLF7 RUNX3 KLF13 JUNB LOC100129940 RPSAP52 HMGA2 ENSG00000256083 GC12P065874 GC12P065875
GH12I065821 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 +57.2 57152 10.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF213 RPSAP52 HMGA2 GC12M065825 LEMD3 LOC100129940 TMBIM4 ENSG00000250280 ENSG00000256083 ENSG00000277945
GH12I065960 Enhancer 1.6 UCNEbase Ensembl ENCODE dbSUPER 11 -78.7 -78654 4 ELF3 PKNOX1 FOXA2 MLX ZSCAN4 RAD21 THRB ZNF48 ZSCAN9 RARA LOC100129940 GC12P065958 GC12P065959 MIR6074 HMGA2
GH12I065924 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -43.1 -43064 3.7 ELF3 FOXA2 FEZF1 SLC30A9 ATF7 CREM MIXL1 HMG20B SP5 KAT8 ENSG00000256083 LOC100129940 RPSAP52 HMGA2 IRAK3 HELB GC12P065889
GH12I065946 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.2 -68.2 -68176 10.9 PKNOX1 ATF1 FOXA2 FEZF1 ZNF2 KLF7 FOS ATF7 RUNX3 KLF13 GC12P065951 GC12P065952 LEMD3 LOC100129940 HMGA2 RPSAP52 HELB ENSG00000256083 GC12P065958 GC12P065959
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LOC100129940 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC100129940 Gene

Genomic Locations for LOC100129940 Gene
chr12:65,851,227-65,883,544
(GRCh38/hg38)
Size:
32,318 bases
Orientation:
Minus strand
chr12:66,249,669-66,275,821
(GRCh37/hg19)

Genomic View for LOC100129940 Gene

Genes around LOC100129940 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC100129940 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100129940 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100129940 Gene

Proteins for LOC100129940 Gene

Post-translational modifications for LOC100129940 Gene

No Post-translational modifications

Other Protein References for LOC100129940 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for LOC100129940 Gene

Domains & Families for LOC100129940 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 LOC100129940 Gene

Function for LOC100129940 Gene

Phenotypes From GWAS Catalog for LOC100129940 Gene

Animal Model Products

Clone 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 LOC100129940 Gene

Localization for LOC100129940 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 LOC100129940 Gene

Pathways & Interactions for LOC100129940 Gene

SuperPathways for LOC100129940 Gene

No Data Available

Interacting Proteins for LOC100129940 Gene

Gene Ontology (GO) - Biological Process for LOC100129940 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC100129940 Gene

Drugs & Compounds for LOC100129940 Gene

No Compound Related Data Available

Transcripts for LOC100129940 Gene

mRNA/cDNA for LOC100129940 Gene

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

Unigene Clusters for LOC100129940 Gene

Uncharacterized LOC100129940:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100129940 Gene

No ASD Table

Relevant External Links for LOC100129940 Gene

GeneLoc Exon Structure for
LOC100129940

Expression for LOC100129940 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LOC100129940 Gene

SOURCE GeneReport for Unigene cluster for LOC100129940 Gene:

Hs.685856

Evidence on tissue expression from TISSUES for LOC100129940 Gene

  • Eye(4.4)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with LOC100129940: 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC100129940 Gene

Orthologs for LOC100129940 Gene

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

Orthologs for LOC100129940 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 98 (a)
OneToOne
Species where no ortholog for LOC100129940 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 LOC100129940 Gene

ENSEMBL:
Gene Tree for LOC100129940 (if available)
TreeFam:
Gene Tree for LOC100129940 (if available)

Paralogs for LOC100129940 Gene

No data available for Paralogs for LOC100129940 Gene

Variants for LOC100129940 Gene

Sequence variations from dbSNP and Humsavar for LOC100129940 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000036093 -- 65,861,071(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000185497 -- 65,879,480(-) A/C intron_variant
rs1000328170 -- 65,853,146(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000360690 -- 65,873,417(-) G/A/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000399821 -- 65,860,544(-) C/T genic_downstream_transcript_variant, intron_variant

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC100129940 Gene

Disorders for LOC100129940 Gene

Additional Disease Information for LOC100129940

No disorders were found for LOC100129940 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LOC100129940 Gene

Publications for LOC100129940 Gene

  1. Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. (PMID: 25102180) Ng MC … MEta-analysis of type 2 DIabetes in African Americans Consortium (PLoS genetics 2014) 3 58
  2. Identification and characterization of novel human transcripts embedded within HMGA2 in t(12;14)(q15;q24.1) uterine leiomyoma. (PMID: 17045619) Ingraham SE … Lepont P (Mutation research 2006) 3 58

Products for LOC100129940 Gene

Sources for LOC100129940 Gene

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