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Aliases for SMIM12 Gene

Aliases for SMIM12 Gene

  • Small Integral Membrane Protein 12 2 3 5
  • C1orf212 3 4
  • Chromosome 1 Open Reading Frame 212 2
  • Alternative Protein C1orf212 3
  • UPF0767 Protein C1orf212 3

External Ids for SMIM12 Gene

Previous HGNC Symbols for SMIM12 Gene

  • C1orf212

Previous GeneCards Identifiers for SMIM12 Gene

  • GC01M035179

Summaries for SMIM12 Gene

GeneCards Summary for SMIM12 Gene

SMIM12 (Small Integral Membrane Protein 12) 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 SMIM12 Gene

Genomics for SMIM12 Gene

Regulatory Elements for SMIM12 Gene

Enhancers for SMIM12 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
GH01G034884 0.9 Ensembl ENCODE 11.6 -25.8 -25777 1.6 RING1 CTCF CEBPB RBBP5 RAD21 POLR2A KDM1A EZH2 ZMYM4 ENSG00000230163 SMIM12 LOC653160 SFPQ GC01P034879 DLGAP3
GH01G034852 1.3 ENCODE dbSUPER 6.9 +7.0 6971 1.1 HDGF PKNOX1 ATF1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A ZNF2 ZNF766 SMIM12 ENSG00000230163 GC01P034859
GH01G034842 1.5 Ensembl ENCODE dbSUPER 5.4 +15.3 15264 3.9 PKNOX1 ATF1 ARNT E2F7 TCF12 ZNF766 CBX5 ELK1 GATA2 NCOA1 ENSG00000230163 SMIM12 GJA4 GC01P034835
GH01G034825 1.1 Ensembl ENCODE 7 +34.2 34181 0.9 FOXA2 ARID4B SIN3A ZNF48 RAD21 RARA YY1 ZNF121 GATA4 FOS GJB3 GJB4 SMIM12 GC01P034835 GJA4
GH01G034858 1.4 ENCODE dbSUPER 5.2 +0.4 374 2.3 PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 SFPQ ZMYM1 LOC653160 ENSG00000230163 RPL5P4 SMIM12 GC01P034859
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMIM12 on UCSC Golden Path with GeneCards custom track

Promoters for SMIM12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004617 416 1601 PKNOX1 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for SMIM12 Gene

Chromosome:
1
Start:
34,712,737 bp from pter
End:
34,859,816 bp from pter
Size:
147,080 bases
Orientation:
Minus strand

Genomic View for SMIM12 Gene

Genes around SMIM12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM12 Gene

Proteins for SMIM12 Gene

  • Protein details for SMIM12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EX1-SIM12_HUMAN
    Recommended name:
    Small integral membrane protein 12
    Protein Accession:
    Q96EX1
    Secondary Accessions:
    • D3DPR5
    • Q49AP7
    • Q52LP9
    • Q8NCB4

    Protein attributes for SMIM12 Gene

    Size:
    92 amino acids
    Molecular mass:
    10799 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH11880.2; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAH73851.2; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAH93838.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAI07422.2; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAI12232.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=BAC11246.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=EAX07437.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAX07438.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAX07439.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for SMIM12 Gene

Post-translational modifications for SMIM12 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SMIM12 Gene

Domains & Families for SMIM12 Gene

Protein Domains for SMIM12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMIM12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EX1

UniProtKB/Swiss-Prot:

SIM12_HUMAN :
  • Belongs to the SMIM12 family.
Family:
  • Belongs to the SMIM12 family.
genes like me logo Genes that share domains with SMIM12: view

No data available for Gene Families for SMIM12 Gene

Function for SMIM12 Gene

genes like me logo Genes that share phenotypes with SMIM12: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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 SMIM12 Gene

Localization for SMIM12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM12 Gene

Membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for SMIM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM12: view

No data available for Subcellular locations from COMPARTMENTS for SMIM12 Gene

Pathways & Interactions for SMIM12 Gene

SuperPathways for SMIM12 Gene

No Data Available

Interacting Proteins for SMIM12 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000428541%0d%0a9606.ENSP00000219281%0d%0a
Selected Interacting proteins: Q96EX1-SIM12_HUMAN ENSP00000428541 for SMIM12 Gene via IID STRING

Gene Ontology (GO) - Biological Process for SMIM12 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMIM12 Gene

Drugs & Compounds for SMIM12 Gene

No Compound Related Data Available

Transcripts for SMIM12 Gene

Unigene Clusters for SMIM12 Gene

Small integral membrane protein 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM12 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e
SP1: -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: -

Relevant External Links for SMIM12 Gene

GeneLoc Exon Structure for
SMIM12
ECgene alternative splicing isoforms for
SMIM12

Expression for SMIM12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMIM12 Gene

Protein differential expression in normal tissues from HIPED for SMIM12 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.5), Platelet (10.1), and Bone (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMIM12 Gene



NURSA nuclear receptor signaling pathways regulating expression of SMIM12 Gene:

SMIM12

SOURCE GeneReport for Unigene cluster for SMIM12 Gene:

Hs.27160

Evidence on tissue expression from TISSUES for SMIM12 Gene

  • Lung(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with SMIM12: view

Primer Products

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 SMIM12 Gene

Orthologs for SMIM12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMIM12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf212 34
  • 100 (n)
SMIM12 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMIM12 34 35
  • 91.3 (n)
dog
(Canis familiaris)
Mammalia SMIM12 34 35
  • 91.3 (n)
rat
(Rattus norvegicus)
Mammalia Smim12 34
  • 91.3 (n)
oppossum
(Monodelphis domestica)
Mammalia SMIM12 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smim12 34 16 35
  • 89.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMIM12 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMIM12 34
  • 76.81 (n)
lizard
(Anolis carolinensis)
Reptilia SMIM12 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smim12 34
  • 67.77 (n)
Str.10215 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.18745 34
zebrafish
(Danio rerio)
Actinopterygii smim12 34 35
  • 69.96 (n)
wufi25c11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12654 34
Species where no ortholog for SMIM12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SMIM12 Gene

ENSEMBL:
Gene Tree for SMIM12 (if available)
TreeFam:
Gene Tree for SMIM12 (if available)

Paralogs for SMIM12 Gene

(1) SIMAP similar genes for SMIM12 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SMIM12 Gene

genes like me logo Genes that share paralogs with SMIM12: view

No data available for Paralogs for SMIM12 Gene

Variants for SMIM12 Gene

Sequence variations from dbSNP and Humsavar for SMIM12 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000140165 -- 34,857,807(+) CAGAT(-/G)GGGGT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000298447 -- 34,858,272(+) CAAAG(A/C/G)CTCAC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000412452 -- 34,857,981(+) TCAGG(C/T)GGTAA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000492477 -- 34,858,070(+) GGCCC(-/A)GGGGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000653466 -- 34,853,401(+) TACCA(A/G)CAACG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SMIM12 Gene

Variant ID Type Subtype PubMed ID
esv3585711 CNV loss 21293372
nsv1012995 CNV gain 25217958

Variation tolerance for SMIM12 Gene

Gene Damage Index Score: 0.07; 1.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMIM12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM12 Gene

Disorders for SMIM12 Gene

Relevant External Links for SMIM12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMIM12

No disorders were found for SMIM12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMIM12 Gene

Publications for SMIM12 Gene

  1. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  4. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3 64

Products for SMIM12 Gene

Sources for SMIM12 Gene

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