This gene is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008] See more...

Aliases for ERC2-IT1 Gene

Subcategory (RNA class) for ERC2-IT1 Gene

lncRNA

Number of RNA Genes sources:

3 / 14

Aliases for ERC2-IT1 Gene

  • ERC2 Intronic Transcript 1 2 3 5
  • ERC2 Intronic Transcript 1 (Non-Protein Coding) 2 3
  • ERC2-IT1 2 168
  • C3orf51 3 4
  • C1orf1 3 4
  • Putative Uncharacterized Protein Encoded By ERC2-IT1 4
  • ERC2 Intronic Transcript Protein 1 4
  • Chromosome 3 Open Reading Frame 51 2
  • Chromosome 1 Open Reading Frame 1 2
  • HSALNG0026312 167
  • NONHSAG035234 92
  • Po42 3
  • PO42 4

External Ids for ERC2-IT1 Gene

Previous HGNC Symbols for ERC2-IT1 Gene

  • C1orf1
  • C3orf51

Summaries for ERC2-IT1 Gene

Entrez Gene Summary for ERC2-IT1 Gene

  • This gene is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ERC2-IT1 Gene

ERC2-IT1 (ERC2 Intronic Transcript 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with ERC2-IT1 include Wilson-Turner X-Linked Mental Retardation Syndrome.

Additional gene information for ERC2-IT1 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 ERC2-IT1 Gene

Genomics for ERC2-IT1 Gene

GeneHancer (GH) Regulatory Elements for ERC2-IT1 Gene

Promoters and enhancers for ERC2-IT1 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
GH03J055659 Enhancer 1 Ensembl ENCODE dbSUPER 500.7 +0.2 168 1.8 USF1 SAP30 NFYB HDAC2 TCF12 POU2F2 SIN3A ZNF664 PBX3 CTBP2 ERC2-IT1 lnc-WNT5A-3 ENSG00000240777 ERC2
GH03J055660 Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.7 -4.2 -4231 3 JUND FOS RELA ZNF660 ARID3A EZH2 ERC2-IT1 lnc-WNT5A-3 ERC2
GH03J055653 Enhancer 0.8 Ensembl ENCODE dbSUPER 0.7 +4.9 4888 1.2 CTCF NFYB IKZF1 PBX3 PKNOX1 RUNX3 ERC2-IT1 ENSG00000240777 lnc-WNT5A-3 ERC2
GH03J055615 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas 0.3 +39.5 39468 16.8 TEAD4 FOS EP300 TRIM28 RELA KLF7 ATF2 OSR2 CTCF WT1 ENSG00000240777 LOC105377100 ERC2-IT1 lnc-WNT5A-3 ERC2
GH03J055648 Enhancer 0.8 Ensembl ENCODE 0.4 +9.9 9869 2 TEAD4 POLR2A HDAC2 YY1 NANOG TCF12 ETS1 SIN3A JUND CHD7 ERC2-IT1 ENSG00000240777 lnc-WNT5A-3 ERC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERC2-IT1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ERC2-IT1 Gene

Genomic Locations for ERC2-IT1 Gene
chr3:55,657,206-55,659,469
(GRCh38/hg38)
Size:
2,264 bases
Orientation:
Minus strand
chr3:55,691,234-55,693,497
(GRCh37/hg19)
Size:
2,264 bases
Orientation:
Minus strand

Genomic View for ERC2-IT1 Gene

Genes around ERC2-IT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERC2-IT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERC2-IT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERC2-IT1 Gene

Proteins for ERC2-IT1 Gene

  • Protein details for ERC2-IT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76042-ERIT1_HUMAN
    Recommended name:
    Putative uncharacterized protein encoded by ERC2-IT1
    Protein Accession:
    O76042
    Secondary Accessions:
    • Q6NT35

    Protein attributes for ERC2-IT1 Gene

    Size:
    136 amino acids
    Molecular mass:
    14968 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC39932.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ERC2-IT1 Gene

Post-translational modifications for ERC2-IT1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ERC2-IT1 Gene

Domains & Families for ERC2-IT1 Gene

Protein Domains for ERC2-IT1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for ERC2-IT1 Gene

GenScript: Design optimal peptide antigens:
  • PO42 (CC051_HUMAN)
genes like me logo Genes that share domains with ERC2-IT1: view

No data available for Gene Families , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ERC2-IT1 Gene

Function for ERC2-IT1 Gene

Phenotypes for ERC2-IT1 Gene

genes like me logo Genes that share phenotypes with ERC2-IT1: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ERC2-IT1 Gene

Localization for ERC2-IT1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERC2-IT1 gene
Compartment Confidence
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ERC2-IT1 Gene

Pathways & Interactions for ERC2-IT1 Gene

PathCards logo

SuperPathways for ERC2-IT1 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for ERC2-IT1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for ERC2-IT1 Gene

Drugs & Compounds for ERC2-IT1 Gene

No Compound Related Data Available

Transcripts for ERC2-IT1 Gene

mRNA/cDNA for ERC2-IT1 Gene

4 RNACentral transcripts :
1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
1 NONCODE transcripts :
1 LncBook transcripts :
3 LNCipedia transcripts :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERC2-IT1 Gene

No ASD Table

Relevant External Links for ERC2-IT1 Gene

GeneLoc Exon Structure for
ERC2-IT1

Expression for ERC2-IT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERC2-IT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERC2-IT1

SOURCE GeneReport for Unigene cluster for ERC2-IT1 Gene:

Hs.667161

mRNA Expression by UniProt/SwissProt for ERC2-IT1 Gene:

O76042-ERIT1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with ERC2-IT1: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERC2-IT1 Gene

Orthologs for ERC2-IT1 Gene

Evolution for ERC2-IT1 Gene

ENSEMBL:
Gene Tree for ERC2-IT1 (if available)
TreeFam:
Gene Tree for ERC2-IT1 (if available)

No data available for Orthologs for ERC2-IT1 Gene

Paralogs for ERC2-IT1 Gene

No data available for Paralogs for ERC2-IT1 Gene

Variants for ERC2-IT1 Gene

Additional dbSNP identifiers (rs#s) for ERC2-IT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ERC2-IT1 Gene

Variant ID Type Subtype PubMed ID
nsv1013405 CNV gain 25217958
nsv517851 CNV gain 19592680

Additional Variant Information for ERC2-IT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERC2-IT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for ERC2-IT1 Gene

Disorders for ERC2-IT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERC2-IT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
wilson-turner x-linked mental retardation syndrome
  • wts
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ERC2-IT1

genes like me logo Genes that share disorders with ERC2-IT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERC2-IT1 Gene

Publications for ERC2-IT1 Gene

  1. Molecular cloning and expression analysis of five novel genes in chromosome 1p36. (PMID: 9653645) Onyango P … Weith A (Genomics 1998) 2 3 4 54
  2. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 54

Products for ERC2-IT1 Gene

Sources for ERC2-IT1 Gene