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Aliases for SMIM19 Gene

Aliases for SMIM19 Gene

  • Small Integral Membrane Protein 19 2 3 5
  • C8orf40 3 4
  • Chromosome 8 Open Reading Frame 40 2
  • UPF0697 Protein C8orf40 3

External Ids for SMIM19 Gene

Previous HGNC Symbols for SMIM19 Gene

  • C8orf40

Previous GeneCards Identifiers for SMIM19 Gene

  • GC08P042397

Summaries for SMIM19 Gene

GeneCards Summary for SMIM19 Gene

SMIM19 (Small Integral Membrane Protein 19) is a Protein Coding gene.

Additional gene information for SMIM19 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 SMIM19 Gene

Genomics for SMIM19 Gene

Regulatory Elements for SMIM19 Gene

Enhancers for SMIM19 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
GH08H042539 1.7 FANTOM5 ENCODE dbSUPER 42 +2.7 2704 8 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 SMIM19 POLB SLC20A2 GC08M042590
GH08H042490 1.5 Ensembl ENCODE dbSUPER 46.9 -43.8 -43756 14 PKNOX1 FOXA2 ZFP64 ARID4B ZNF2 YY1 GLIS2 FOS RUNX3 SP5 SMIM19 SLC20A2 ENSG00000254165 LOC105379396 POLB AP3M2 ENSG00000254131 GC08M042530
GH08H042554 1.3 Ensembl ENCODE dbSUPER 37.8 +14.0 14000 2 TFAP4 FOXA2 SAP130 ZIC2 FOSL1 ZNF316 POLR2A FOS NFE2 MAFK SMIM19 SLC20A2 GC08M042590
GH08H042509 0.8 ENCODE dbSUPER 53 -31.1 -31120 1 PRDM6 SP5 CEBPA CEBPB MLLT1 SMIM19 ENSG00000254165 SLC20A2 LOC105379396 GC08M042530 ENSG00000254131
GH08H042534 0.9 Ensembl ENCODE dbSUPER 41.7 -5.9 -5905 1 JUN FOS SMIM19 ENSG00000254165 GC08M042530
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMIM19 on UCSC Golden Path with GeneCards custom track

Promoters for SMIM19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000224109 145 2601 ATF1 ARID4B SIN3A DMAP1 BRCA1 ZNF2 YY1 ZNF121 ZNF766 GLIS2

Genomic Location for SMIM19 Gene

Chromosome:
8
Start:
42,541,155 bp from pter
End:
42,555,193 bp from pter
Size:
14,039 bases
Orientation:
Plus strand

Genomic View for SMIM19 Gene

Genes around SMIM19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM19 Gene

Proteins for SMIM19 Gene

  • Protein details for SMIM19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E16-SMI19_HUMAN
    Recommended name:
    Small integral membrane protein 19
    Protein Accession:
    Q96E16
    Secondary Accessions:
    • B2R4S6
    • D3DSY4

    Protein attributes for SMIM19 Gene

    Size:
    107 amino acids
    Molecular mass:
    12439 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH13035.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG34873.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SMIM19 Gene

Post-translational modifications for SMIM19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SMIM19 Gene

Domains & Families for SMIM19 Gene

Gene Families for SMIM19 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SMIM19 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMIM19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96E16

UniProtKB/Swiss-Prot:

SMI19_HUMAN :
  • Belongs to the SMIM19 family.
Family:
  • Belongs to the SMIM19 family.
genes like me logo Genes that share domains with SMIM19: view

Function for SMIM19 Gene

Phenotypes From GWAS Catalog for SMIM19 Gene

genes like me logo Genes that share phenotypes with SMIM19: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SMIM19
  • 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 , Transcription Factor Targets and HOMER Transcription for SMIM19 Gene

Localization for SMIM19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM19 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 SMIM19 gene
Compartment Confidence
plasma membrane 3
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SMIM19 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 SMIM19: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMIM19 Gene

Pathways & Interactions for SMIM19 Gene

SuperPathways for SMIM19 Gene

No Data Available

Interacting Proteins for SMIM19 Gene

Gene Ontology (GO) - Biological Process for SMIM19 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMIM19 Gene

Drugs & Compounds for SMIM19 Gene

No Compound Related Data Available

Transcripts for SMIM19 Gene

Unigene Clusters for SMIM19 Gene

Small integral membrane protein 19:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SMIM19
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM19 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - - - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: -

Relevant External Links for SMIM19 Gene

GeneLoc Exon Structure for
SMIM19
ECgene alternative splicing isoforms for
SMIM19

Expression for SMIM19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMIM19 Gene

Protein differential expression in normal tissues from HIPED for SMIM19 Gene

This gene is overexpressed in Bone (54.9) and Pancreas (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SMIM19 Gene



Protein tissue co-expression partners for SMIM19 Gene

NURSA nuclear receptor signaling pathways regulating expression of SMIM19 Gene:

SMIM19

SOURCE GeneReport for Unigene cluster for SMIM19 Gene:

Hs.655320

Evidence on tissue expression from TISSUES for SMIM19 Gene

  • Lung(4.3)
  • Pancreas(2.9)
  • Thyroid gland(2.3)
genes like me logo Genes that share expression patterns with SMIM19: 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 SMIM19 Gene

Orthologs for SMIM19 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMIM19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMIM19 33 34
  • 99.69 (n)
oppossum
(Monodelphis domestica)
Mammalia SMIM19 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMIM19 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMIM19 33 34
  • 89.1 (n)
cow
(Bos Taurus)
Mammalia SMIM19 33 34
  • 85.36 (n)
mouse
(Mus musculus)
Mammalia Smim19 33 16 34
  • 85.05 (n)
rat
(Rattus norvegicus)
Mammalia Smim19 33
  • 83.18 (n)
chicken
(Gallus gallus)
Aves C4H8ORF40 33 34
  • 68.25 (n)
lizard
(Anolis carolinensis)
Reptilia SMIM19 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smim19 33
  • 71.62 (n)
Str.1870 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15169 33
zebrafish
(Danio rerio)
Actinopterygii SMIM19 34
  • 71 (a)
OneToOne
zgc:114040 33
  • 70.87 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4407 33
Species where no ortholog for SMIM19 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 SMIM19 Gene

ENSEMBL:
Gene Tree for SMIM19 (if available)
TreeFam:
Gene Tree for SMIM19 (if available)

Paralogs for SMIM19 Gene

No data available for Paralogs for SMIM19 Gene

Variants for SMIM19 Gene

Sequence variations from dbSNP and Humsavar for SMIM19 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs113755761 Likely benign 42,542,090(+) CCTGC(A/T)CCACT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs145711927 Likely benign 42,542,148(+) TGGAA(A/G)AGTTC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs574357175 Uncertain significance 42,541,945(+) TGCGG(C/T)GGCCC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs2923444 Benign 42,541,861(+) GCACC(C/T)GCCCG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000266422 -- 42,547,336(+) TGGGC(C/G)ACAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMIM19 Gene

Variant ID Type Subtype PubMed ID
nsv1017899 CNV gain 25217958

Variation tolerance for SMIM19 Gene

Residual Variation Intolerance Score: 46.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMIM19 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM19 Gene

Disorders for SMIM19 Gene

Relevant External Links for SMIM19

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMIM19

No disorders were found for SMIM19 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMIM19 Gene

Publications for SMIM19 Gene

  1. 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) 3 4 60
  2. 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) 2 3 60
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 60
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3 60
  5. 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 60

Products for SMIM19 Gene

Sources for SMIM19 Gene

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