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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.

Additional gene information for SMIM23 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 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
GH05H172763 2.4 VISTA FANTOM5 ENCODE dbSUPER 14.6 +999.6 999558 16 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A DUSP1 CREBRF KLF3P1 ERGIC1 ENSG00000253628 ENSG00000253172 SMIM23 BOD1 EFCAB9 LOC100268168
GH05H171386 1.1 ENCODE 14.6 -383.7 -383661 4 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 KLF3P1 SMIM23 EFCAB9 NPM1 GC05P171389 GC05P171388 FGF18
GH05H171449 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -322.0 -322018 2 MAZ KLF1 SMARCC1 BCL11B FOSL1 E2F1 GLIS2 POLR2A FOS HNF4A FGF18 SMIM23 LOC105377720
GH05H171913 1 Ensembl ENCODE dbSUPER 9.7 +141.8 141806 1 ZSCAN4 IKZF1 PRDM1 IKZF2 SPI1 FGF18 ENSG00000253110 SMIM23 GC05P171872 FBXW11
GH05H171841 0.8 Ensembl ENCODE 10.9 +69.6 69640 0 FOXK2 ZSCAN29 MNT PRDM4 MGA ENSG00000253110 SMIM23 FGF18 LOC105377725
- Elite enhancer and/or Elite enhancer-gene association 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:
171,796,126 bp from pter
Size:
23,485 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

Gene Families for SMIM23 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SMIM23 Gene

Function for SMIM23 Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for SMIM23
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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.

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 SMIM23 gene
Compartment Confidence
plasma membrane 4
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

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 the Human Protein Atlas (HPA) 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

Drugs & Compounds for SMIM23 Gene

No Compound Related Data Available

Transcripts for SMIM23 Gene

mRNA/cDNA for SMIM23 Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for SMIM23
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.09 (n)
dog
(Canis familiaris)
Mammalia C4H5orf50 33
  • 80.71 (n)
SMIM23 34
  • 74 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C20H5orf50 33
  • 78.92 (n)
SMIM23 34
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306625 33
  • 74.94 (n)
mouse
(Mus musculus)
Mammalia Smim23 33 16
  • 73.53 (n)
1700008A04Rik 34
  • 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
rs1000116045 -- 171,771,609(+) AATAC(A/G)TATTT upstream-variant-2KB
rs1000295985 -- 171,772,020(+) AAATG(C/T)GTAAG upstream-variant-2KB
rs1000517749 -- 171,774,533(+) CCCCT(C/T)GTGGG intron-variant
rs1000739236 -- 171,779,849(+) AGGAA(-/AAG)AAGGA intron-variant
rs1000795344 -- 171,785,673(+) TGTTT(C/T)CTACA intron-variant, upstream-variant-2KB

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 genetics 2012) 2 3 60
  2. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4 60
  3. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. (PMID: 23509962) Greliche N … Trégouët DA (BMC medical genetics 2013) 3 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 60
  5. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 60

Products for SMIM23 Gene

Sources for SMIM23 Gene

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