Aliases for SMIM15 Gene

Aliases for SMIM15 Gene

  • Small Integral Membrane Protein 15 2 3 4 5
  • C5orf43 3 4
  • Chromosome 5 Open Reading Frame 43 2
  • UPF0542 Protein C5orf43 3
  • DKFZP686E2158 2
  • SMIM15 5

External Ids for SMIM15 Gene

Previous HGNC Symbols for SMIM15 Gene

  • C5orf43

Previous GeneCards Identifiers for SMIM15 Gene

  • GC05M060454

Summaries for SMIM15 Gene

GeneCards Summary for SMIM15 Gene

SMIM15 (Small Integral Membrane Protein 15) is a Protein Coding gene. Diseases associated with SMIM15 include Perlman Syndrome.

Additional gene information for SMIM15 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 SMIM15 Gene

Genomics for SMIM15 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMIM15 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
GH05J061161 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 604.7 +0.2 167 4.6 HNRNPL GATAD2A PRDM10 ZNF629 TFE3 IKZF1 NFKBIZ ZNF692 POLR2A TARDBP SMIM15 SMIM15-AS1 ERCC8 ELOVL7 NDUFAF2
GH05J061298 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE dbSUPER 611.4 -140.4 -140350 9.4 CEBPG CREB1 GATAD2A ATF7 PRDM10 RFX1 SOX13 NFKBIZ RCOR2 FOXA1 SMIM15 lnc-ZSWIM6-5 ZSWIM6 SMIM15-AS1 RNU6-913P ERCC8 LINC02057 lnc-ZSWIM6-2 LOC105378993
GH05J061311 Enhancer 1 Ensembl ENCODE dbSUPER 11.6 -150.9 -150933 5.2 PRDM10 ZNF629 ZNF692 PRDM1 POLR2A CEBPB SP1 SMARCC1 JUND NR3C1 SMIM15 SMIM15-AS1 LOC105378993 LOC105378994 lnc-ZSWIM6-2 ZSWIM6
GH05J061245 Enhancer 0.7 Ensembl ENCODE 11.2 -83.4 -83419 1.4 FOXA1 ZNF501 ZBTB17 ZFHX2 KLF9 GATA3 ZNF335 EGR2 MZF1 ZBTB8A SMIM15 SMIM15-AS1 piR-39341-301 piR-43164-054 LINC02057 ZSWIM6
GH05J061286 Enhancer 0.7 Ensembl ENCODE dbSUPER 11.8 -124.1 -124132 3.2 USF1 JUND ZSWIM6 SMIM15 SMIM15-AS1 ELOVL7 ERCC8 LINC02057 lnc-ZSWIM6-2 lnc-ZSWIM6-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMIM15 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMIM15

Genomic Locations for SMIM15 Gene

Genomic Locations for SMIM15 Gene
chr5:61,157,704-61,162,468
(GRCh38/hg38)
Size:
4,765 bases
Orientation:
Minus strand
chr5:60,453,536-60,458,302
(GRCh37/hg19)
Size:
4,767 bases
Orientation:
Minus strand

Genomic View for SMIM15 Gene

Genes around SMIM15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM15 Gene

Proteins for SMIM15 Gene

  • Protein details for SMIM15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3B0-SIM15_HUMAN
    Recommended name:
    Small integral membrane protein 15
    Protein Accession:
    Q7Z3B0
    Secondary Accessions:
    • B9EJC4

    Protein attributes for SMIM15 Gene

    Size:
    74 amino acids
    Molecular mass:
    8625 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SMIM15 Gene

Post-translational modifications for SMIM15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMIM15 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMIM15 Gene

Domains & Families for SMIM15 Gene

Gene Families for SMIM15 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SMIM15 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMIM15 Gene

GenScript: Design optimal peptide antigens:
  • UPF0542 protein C5orf43 (CE043_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z3B0

UniProtKB/Swiss-Prot:

SIM15_HUMAN :
  • Belongs to the SMIM15 family.
Family:
  • Belongs to the SMIM15 family.
genes like me logo Genes that share domains with SMIM15: view

Function for SMIM15 Gene

Phenotypes From GWAS Catalog for SMIM15 Gene

Phenotypes for SMIM15 Gene

GenomeRNAi human phenotypes for SMIM15:
genes like me logo Genes that share phenotypes with SMIM15: view

Animal Model Products

CRISPR Products

miRNA for SMIM15 Gene

miRTarBase miRNAs that target SMIM15

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMIM15

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMIM15 Gene

Localization for SMIM15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM15 Gene

Membrane. Single-pass 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 SMIM15 gene
Compartment Confidence
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SMIM15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM15: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMIM15 Gene

Pathways & Interactions for SMIM15 Gene

PathCards logo

SuperPathways for SMIM15 Gene

No Data Available

Interacting Proteins for SMIM15 Gene

Gene Ontology (GO) - Biological Process for SMIM15 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMIM15 Gene

Drugs & Compounds for SMIM15 Gene

No Compound Related Data Available

Transcripts for SMIM15 Gene

mRNA/cDNA for SMIM15 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMIM15

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM15 Gene

No ASD Table

Relevant External Links for SMIM15 Gene

GeneLoc Exon Structure for
SMIM15

Expression for SMIM15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMIM15 Gene

Protein differential expression in normal tissues from HIPED for SMIM15 Gene

This gene is overexpressed in Placenta (16.0), Ovary (14.0), Rectum (8.4), Prostate (8.0), Adrenal (6.4), and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMIM15 Gene



Protein tissue co-expression partners for SMIM15 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMIM15

SOURCE GeneReport for Unigene cluster for SMIM15 Gene:

Hs.508479

Evidence on tissue expression from TISSUES for SMIM15 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with SMIM15: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMIM15 Gene

Orthologs for SMIM15 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMIM15 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SMIM15 30 31
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SMIM15 31
  • 99 (a)
OneToOne
C7H5orf43 30
  • 94.14 (n)
Oppossum
(Monodelphis domestica)
Mammalia SMIM15 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SMIM15 30 31
  • 94.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SMIM15 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Smim15 30 17 31
  • 91.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Smim15 30
  • 90.09 (n)
Chicken
(Gallus gallus)
Aves SMIM15 31
  • 84 (a)
OneToOne
CZH5ORF43 30
  • 78.83 (n)
Lizard
(Anolis carolinensis)
Reptilia SMIM15 31
  • 94 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii smim15 30 31
  • 73.42 (n)
OneToOne
Species where no ortholog for SMIM15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

Evolution for SMIM15 Gene

ENSEMBL:
Gene Tree for SMIM15 (if available)
TreeFam:
Gene Tree for SMIM15 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMIM15: view image

Paralogs for SMIM15 Gene

genes like me logo Genes that share paralogs with SMIM15: view

No data available for Paralogs for SMIM15 Gene

Variants for SMIM15 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMIM15 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs4546328 - p.Leu23Phe

Additional dbSNP identifiers (rs#s) for SMIM15 Gene

Structural Variations from Database of Genomic Variants (DGV) for SMIM15 Gene

Variant ID Type Subtype PubMed ID
nsv598314 CNV loss 21841781

Variation tolerance for SMIM15 Gene

Residual Variation Intolerance Score: 73.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMIM15 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM15 Gene

Disorders for SMIM15 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMIM15 Gene - From: DISEASES

Disorder Aliases PubMed IDs
perlman syndrome
  • nephroblastoma
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SMIM15: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMIM15 Gene

Publications for SMIM15 Gene

  1. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4
  4. 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
  5. 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

Products for SMIM15 Gene

Sources for SMIM15 Gene