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Aliases for SMIM23 Gene

Aliases for SMIM23 Gene

  • Small Integral Membrane Protein 23 2 3 5
  • C5orf50 3 4
  • Chromosome 5 Open Reading Frame 50 2
  • CTB-78H18.1 3

External Ids for SMIM23 Gene

Previous HGNC Symbols for SMIM23 Gene

  • C5orf50

Previous GeneCards Identifiers for SMIM23 Gene

  • GC05P171130

Summaries for SMIM23 Gene

GeneCards Summary for SMIM23 Gene

SMIM23 (Small Integral Membrane Protein 23) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMIM23 Gene

Genomics for SMIM23 Gene

Regulatory Elements for SMIM23 Gene

Enhancers for SMIM23 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
GH05F171386 0.5 ENCODE 16.2 -383.7 -383661 4.7 HDGF CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS KLF3P1 ENSG00000253110 SMIM23 EFCAB9 GC05P171388 GC05P171389 FGF18
GH05F172707 0.2 Ensembl 16.2 +934.8 934847 0.6 HDGF ZNF133 INSM2 RAD21 ZNF207 ZNF548 EGR2 ZNF202 ZNF654 MCM3 KLF3P1 ENSG00000253628 ENSG00000253172 ENSG00000253110 SMIM23 EFCAB9 SH3PXD2B CREBRF UBTD2 ENSG00000253445
GH05F172763 1.6 VISTA FANTOM5 ENCODE 16.2 +999.6 999558 16.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 DUSP1 CREBRF KLF3P1 ERGIC1 ENSG00000253628 ENSG00000253172 ENSG00000253110 SMIM23 UBTD2 EFCAB9
GH05F171750 1 Ensembl 11.5 -22.0 -22042 0.4 CTCF BHLHE40 RAD21 NR2F2 SMIM23 FGF18 LOC105377724
GH05F171681 0.9 Ensembl ENCODE 11.1 -90.6 -90642 0.8 ZFHX2 JUN ATF2 EGR2 SMIM23 FGF18 LOC105377723 LOC105377722
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SMIM23 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMIM23 Gene

Chromosome:
5
Start:
171,772,642 bp from pter
End:
171,794,598 bp from pter
Size:
21,957 bases
Orientation:
Plus strand

Genomic View for SMIM23 Gene

Genes around SMIM23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM23 Gene

Proteins for SMIM23 Gene

  • Protein details for SMIM23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NLE4-SIM23_HUMAN
    Recommended name:
    Small integral membrane protein 23
    Protein Accession:
    A6NLE4

    Protein attributes for SMIM23 Gene

    Size:
    172 amino acids
    Molecular mass:
    20025 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SMIM23 Gene

Post-translational modifications for SMIM23 Gene

No Post-translational modifications

Other Protein References for SMIM23 Gene

No data available for DME Specific Peptides for SMIM23 Gene

Domains & Families for SMIM23 Gene

Protein Domains for SMIM23 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SMIM23: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SMIM23 Gene

Function for SMIM23 Gene

Phenotypes for SMIM23 Gene

GenomeRNAi human phenotypes for SMIM23:
genes like me logo Genes that share phenotypes with SMIM23: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SMIM23 Gene

Localization for SMIM23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM23 Gene

Cell membrane; Single-pass type II membrane protein.

Gene Ontology (GO) - Cellular Components for SMIM23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM23: view

No data available for Subcellular locations from COMPARTMENTS for SMIM23 Gene

Pathways & Interactions for SMIM23 Gene

SuperPathways for SMIM23 Gene

No Data Available

Interacting Proteins for SMIM23 Gene

Gene Ontology (GO) - Biological Process for SMIM23 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMIM23 Gene

Transcripts for SMIM23 Gene

mRNA/cDNA for SMIM23 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM23 Gene

No ASD Table

Relevant External Links for SMIM23 Gene

GeneLoc Exon Structure for
SMIM23
ECgene alternative splicing isoforms for
SMIM23

Expression for SMIM23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMIM23 Gene

mRNA differential expression in normal tissues according to GTEx for SMIM23 Gene

This gene is overexpressed in Testis (x52.8).

NURSA nuclear receptor signaling pathways regulating expression of SMIM23 Gene:

SMIM23
genes like me logo Genes that share expression patterns with SMIM23: 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 and mRNA Expression by UniProt/SwissProt for SMIM23 Gene

Orthologs for SMIM23 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SMIM23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMIM23 34 35
  • 98.09 (n)
dog
(Canis familiaris)
Mammalia C4H5orf50 34
  • 80.71 (n)
SMIM23 35
  • 74 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C20H5orf50 34
  • 78.92 (n)
SMIM23 35
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306625 34
  • 74.94 (n)
mouse
(Mus musculus)
Mammalia Smim23 34 16
  • 73.53 (n)
1700008A04Rik 35
  • 61 (a)
OneToOne
Species where no ortholog for SMIM23 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 SMIM23 Gene

ENSEMBL:
Gene Tree for SMIM23 (if available)
TreeFam:
Gene Tree for SMIM23 (if available)

Paralogs for SMIM23 Gene

No data available for Paralogs for SMIM23 Gene

Variants for SMIM23 Gene

Sequence variations from dbSNP and Humsavar for SMIM23 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10037031 -- 171,790,231(+) CTAGA(C/T)GCTGT reference, missense
rs10059416 -- 171,784,508(+) tcaaa(A/G)aaaaa intron-variant, upstream-variant-2KB
rs10062439 -- 171,773,563(+) CCTCA(C/T)GGGGC intron-variant, upstream-variant-2KB
rs10463008 -- 171,789,609(+) tatac(G/T)catca intron-variant
rs10566750 -- 171,788,174(+) CACAA(-/AC)ACACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMIM23 Gene

Variant ID Type Subtype PubMed ID
esv3890767 CNV loss 25118596
nsv830553 CNV loss 17160897

Variation tolerance for SMIM23 Gene

Gene Damage Index Score: 4.38; 63.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMIM23 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM23 Gene

Disorders for SMIM23 Gene

Relevant External Links for SMIM23

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMIM23

No disorders were found for SMIM23 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMIM23 Gene

Publications for SMIM23 Gene

  1. A genome-wide association study identifies five loci influencing facial morphology in Europeans. (PMID: 23028347) Liu F. … Kayser M. (PLoS Genet. 2012) 2 3 64
  2. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 3 4 64
  3. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. (PMID: 23509962) Greliche N. … TrAcgouAt D.A. (BMC Med. Genet. 2013) 3 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 64
  5. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H. … Hirschhorn J.N. (Nature 2010) 3 64

Products for SMIM23 Gene

Sources for SMIM23 Gene

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