Aliases for SMIM2-IT1 Gene

Subcategory (RNA class) for SMIM2-IT1 Gene

lncRNA

Number of RNA Genes sources:

3 / 14

Aliases for SMIM2-IT1 Gene

  • SMIM2 Intronic Transcript 1 2 3 5
  • C13orf44 Intronic Transcript 1 (Non-Protein Coding) 2 3
  • SMIM2 Intronic Transcript 1 (Non-Protein Coding) 2 3
  • SMIM2-IT1 2 168
  • HSALNG0096736 167
  • NONHSAG013376 92
  • C13orf44-IT1 3

External Ids for SMIM2-IT1 Gene

Previous HGNC Symbols for SMIM2-IT1 Gene

  • C13orf44-IT1

Previous GeneCards Identifiers for SMIM2-IT1 Gene

  • GC13M044724

Summaries for SMIM2-IT1 Gene

GeneCards Summary for SMIM2-IT1 Gene

SMIM2-IT1 (SMIM2 Intronic Transcript 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with SMIM2-IT1 include Hereditary Hemorrhagic Telangiectasia.

Additional gene information for SMIM2-IT1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMIM2-IT1 Gene

Genomics for SMIM2-IT1 Gene

GeneHancer (GH) Regulatory Elements for SMIM2-IT1 Gene

Promoters and enhancers for SMIM2-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
GH13J044157 Enhancer 0.9 ENCODE dbSUPER 500.7 -1.6 -1572 3.9 TCF12 RFX1 EP300 CTBP1 BRCA1 FOS FOSL2 CEBPB NEUROD1 JUN SMIM2 SMIM2-IT1 SMIM2-AS1
GH13J044300 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10.6 -149.3 -149261 14.8 TCF12 JUND FOS ZNF10 ZIC2 REST POLR2A TCF7 RELA EP300 lnc-SERP2-15 SERP2 LACC1 GPALPP1 SMIM2 SMIM2-IT1 SMIM2-AS1 CCDC122 TSC22D1 lnc-SERP2-5
GH13J044191 Enhancer 1.2 Ensembl ENCODE dbSUPER 12 -34.3 -34309 2.9 CTCF ZSCAN5C MYC TEAD4 TRIM28 REST RFX1 RAD21 TEAD1 SMC3 GPALPP1 SMIM2 SMIM2-IT1 SMIM2-AS1 TSC22D1 ENSG00000276854
GH13J044218 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.6 -61.8 -61830 3.5 ZSCAN5C TCF12 FOS KLF7 FOXA2 OSR2 WT1 FOSL2 JUND OVOL3 SMIM2 SMIM2-IT1 SMIM2-AS1 lnc-SERP2-10 lnc-SERP2-9
GH13J044292 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -136.8 -136777 6 ZNF341 CEBPG FOS CEBPB USF1 FOSL1 JUND MITF TOE1 RXRA SERP2 SMIM2-IT1 SMIM2 LACC1 CCDC122 lnc-SERP2-15 piR-38352-139 lnc-SERP2-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMIM2-IT1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SMIM2-IT1 Gene

Genomic Locations for SMIM2-IT1 Gene
chr13:44,146,470-44,158,223
(GRCh38/hg38)
Size:
11,754 bases
Orientation:
Minus strand
chr13:44,720,606-44,732,358
(GRCh37/hg19)
Size:
11,753 bases
Orientation:
Minus strand

Genomic View for SMIM2-IT1 Gene

Genes around SMIM2-IT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM2-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 SMIM2-IT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM2-IT1 Gene

Proteins for SMIM2-IT1 Gene

Post-translational modifications for SMIM2-IT1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SMIM2-IT1 Gene

Domains & Families for SMIM2-IT1 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SMIM2-IT1 Gene

Function for SMIM2-IT1 Gene

Phenotypes From GWAS Catalog for SMIM2-IT1 Gene

Animal Model Products

CRISPR 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 SMIM2-IT1 Gene

Localization for SMIM2-IT1 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 SMIM2-IT1 Gene

Pathways & Interactions for SMIM2-IT1 Gene

PathCards logo

SuperPathways for SMIM2-IT1 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for SMIM2-IT1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for SMIM2-IT1 Gene

Drugs & Compounds for SMIM2-IT1 Gene

No Compound Related Data Available

Transcripts for SMIM2-IT1 Gene

mRNA/cDNA for SMIM2-IT1 Gene

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

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM2-IT1 Gene

No ASD Table

Relevant External Links for SMIM2-IT1 Gene

GeneLoc Exon Structure for
SMIM2-IT1

Expression for SMIM2-IT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMIM2-IT1 Gene

mRNA differential expression in normal tissues according to GTEx for SMIM2-IT1 Gene

This gene is overexpressed in Testis (x32.5) and Muscle - Skeletal (x6.6).

SOURCE GeneReport for Unigene cluster for SMIM2-IT1 Gene:

Hs.652552
genes like me logo Genes that share expression patterns with SMIM2-IT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 SMIM2-IT1 Gene

Orthologs for SMIM2-IT1 Gene

Evolution for SMIM2-IT1 Gene

ENSEMBL:
Gene Tree for SMIM2-IT1 (if available)
TreeFam:
Gene Tree for SMIM2-IT1 (if available)

No data available for Orthologs for SMIM2-IT1 Gene

Paralogs for SMIM2-IT1 Gene

No data available for Paralogs for SMIM2-IT1 Gene

Variants for SMIM2-IT1 Gene

Additional dbSNP identifiers (rs#s) for SMIM2-IT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SMIM2-IT1 Gene

Variant ID Type Subtype PubMed ID
nsv1048346 CNV gain 25217958

Additional Variant Information for SMIM2-IT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM2-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 SMIM2-IT1 Gene

Disorders for SMIM2-IT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMIM2-IT1 Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
hereditary hemorrhagic telangiectasia
  • hht
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SMIM2-IT1

genes like me logo Genes that share disorders with SMIM2-IT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMIM2-IT1 Gene

Publications for SMIM2-IT1 Gene

No publications were found for SMIM2-IT1 Gene.

Products for SMIM2-IT1 Gene

Sources for SMIM2-IT1 Gene