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Aliases for SMIM4 Gene

Aliases for SMIM4 Gene

  • Small Integral Membrane Protein 4 2 3 5
  • C3orf78 3 4
  • Chromosome 3 Open Reading Frame 78 2
  • UPF0640 Protein C3orf78 3

External Ids for SMIM4 Gene

Previous HGNC Symbols for SMIM4 Gene

  • C3orf78

Previous GeneCards Identifiers for SMIM4 Gene

  • GC03P052570

Summaries for SMIM4 Gene

GeneCards Summary for SMIM4 Gene

SMIM4 (Small Integral Membrane Protein 4) is a Protein Coding 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 SMIM4 Gene

Genomics for SMIM4 Gene

Regulatory Elements for SMIM4 Gene

Enhancers for SMIM4 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
GH03G052489 1.2 Ensembl ENCODE dbSUPER 12.6 -43.2 -43159 2.5 TBP ZNF263 AGO1 JUN MAX NR2F2 POLR2A GATA2 ZBTB33 FOS NT5DC2 SMIM4 STAB1 PIR37247
GH03G052466 1.2 VISTA FANTOM5 dbSUPER 11.6 -65.8 -65833 3.0 ZNF740 MNT ZNF623 ZIC2 NR2F2 ZNF121 SMARCA4 POLR2A ZNF652 PRDM1 NT5DC2 SEMA3G STAB1 SMIM4 RNU6-856P RNU6ATAC16P PBRM1 GNL3 ENSG00000252787 SNORD19
GH03G052482 0.9 ENCODE dbSUPER 12 -51.7 -51694 0.2 CTCF RAD21 POLR2A IKZF1 SCRT2 ZBTB33 KDM6A HNRNPL NISCH NT5DC2 SMIM4 TNNC1 SEMA3G GLYCTK-AS1 MIR135A1 WDR82 GLYCTK PIR37247
GH03G052483 0.9 ENCODE dbSUPER 12 -50.1 -50071 1.3 SOX13 PHF8 BHLHE40 MNT NR2F2 RARA POLR2A SCRT2 NT5DC2 SMIM4 TNNC1 NISCH SEMA3G GLYCTK-AS1 MIR135A1 GLYCTK WDR82 PIR37247
GH03G052481 0.7 ENCODE dbSUPER 12 -52.4 -52434 0.2 POLR2A SMARCA4 NT5DC2 SMIM4 TNNC1 NISCH SEMA3G GLYCTK-AS1 MIR135A1 GLYCTK WDR82 PIR37247
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMIM4 on UCSC Golden Path with GeneCards custom track

Promoters for SMIM4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152571 -313 1401 ATF1 ARNT CREB3L1 AGO1 ARID4B DMAP1 ZNF48 FOS SP3 NFYC

Genomic Location for SMIM4 Gene

Chromosome:
3
Start:
52,534,013 bp from pter
End:
52,579,237 bp from pter
Size:
45,225 bases
Orientation:
Plus strand

Genomic View for SMIM4 Gene

Genes around SMIM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM4 Gene

Proteins for SMIM4 Gene

  • Protein details for SMIM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVI0-SMIM4_HUMAN
    Recommended name:
    Small integral membrane protein 4
    Protein Accession:
    Q8WVI0

    Protein attributes for SMIM4 Gene

    Size:
    70 amino acids
    Molecular mass:
    8696 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH17996.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for SMIM4 Gene

Post-translational modifications for SMIM4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMIM4 Gene

No data available for DME Specific Peptides for SMIM4 Gene

Domains & Families for SMIM4 Gene

Protein Domains for SMIM4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMIM4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WVI0

UniProtKB/Swiss-Prot:

SMIM4_HUMAN :
  • Belongs to the SMIM4 family.
Family:
  • Belongs to the SMIM4 family.
genes like me logo Genes that share domains with SMIM4: view

No data available for Gene Families for SMIM4 Gene

Function for SMIM4 Gene

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 SMIM4 Gene

Localization for SMIM4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM4 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 SMIM4 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SMIM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM4: view

Pathways & Interactions for SMIM4 Gene

SuperPathways for SMIM4 Gene

No Data Available

Interacting Proteins for SMIM4 Gene

Gene Ontology (GO) - Biological Process for SMIM4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMIM4 Gene

Transcripts for SMIM4 Gene

Unigene Clusters for SMIM4 Gene

Small integral membrane protein 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM4 Gene

ExUns: 1a · 1b ^ 2
SP1: -
SP2:

Relevant External Links for SMIM4 Gene

GeneLoc Exon Structure for
SMIM4
ECgene alternative splicing isoforms for
SMIM4

Expression for SMIM4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMIM4 Gene

Protein differential expression in normal tissues from HIPED for SMIM4 Gene

This gene is overexpressed in Bone (20.2), Pancreas (14.4), Heart (13.1), and Lung (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMIM4 Gene



NURSA nuclear receptor signaling pathways regulating expression of SMIM4 Gene:

SMIM4

SOURCE GeneReport for Unigene cluster for SMIM4 Gene:

Hs.660577

Evidence on tissue expression from TISSUES for SMIM4 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with SMIM4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMIM4 Gene

Orthologs for SMIM4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMIM4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC745959 34
  • 100 (n)
SMIM4 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smim4 34
  • 93.94 (n)
cow
(Bos Taurus)
Mammalia SMIM4 34 35
  • 93.24 (n)
dog
(Canis familiaris)
Mammalia SMIM4 34 35
  • 92.75 (n)
oppossum
(Monodelphis domestica)
Mammalia SMIM4 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smim4 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMIM4 35
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SMIM4 35
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32736 35
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
Species where no ortholog for SMIM4 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 SMIM4 Gene

ENSEMBL:
Gene Tree for SMIM4 (if available)
TreeFam:
Gene Tree for SMIM4 (if available)

Paralogs for SMIM4 Gene

No data available for Paralogs for SMIM4 Gene

Variants for SMIM4 Gene

Sequence variations from dbSNP and Humsavar for SMIM4 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000039280 -- 52,536,808(+) GAAGC(A/G)GCGAT upstream-variant-2KB, reference, missense
rs1000051190 -- 52,537,691(+) AAGAA(A/G)ATGAT intron-variant
rs1000151301 -- 52,537,912(+) GAGCA(C/G)TTGTG intron-variant
rs1001108182 -- 52,539,324(+) CTGAG(C/T)GGGTA intron-variant
rs1001322787 -- 52,537,550(+) TTTAA(A/G)GAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMIM4 Gene

Variant ID Type Subtype PubMed ID
dgv8326n54 CNV loss 21841781
esv3596160 CNV gain 21293372
nsv834697 CNV loss 17160897

Variation tolerance for SMIM4 Gene

Gene Damage Index Score: 0.03; 0.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMIM4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM4 Gene

Disorders for SMIM4 Gene

Relevant External Links for SMIM4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMIM4

No disorders were found for SMIM4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMIM4 Gene

Publications for SMIM4 Gene

  1. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3 64
  2. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 64
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for SMIM4 Gene

Sources for SMIM4 Gene

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