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Aliases for SMIM14 Gene

Aliases for SMIM14 Gene

  • Small Integral Membrane Protein 14 2 3 5
  • C4orf34 3 4
  • Chromosome 4 Open Reading Frame 34 2

External Ids for SMIM14 Gene

Previous HGNC Symbols for SMIM14 Gene

  • C4orf34

Summaries for SMIM14 Gene

GeneCards Summary for SMIM14 Gene

SMIM14 (Small Integral Membrane Protein 14) 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 SMIM14 Gene

Genomics for SMIM14 Gene

Regulatory Elements for SMIM14 Gene

Enhancers for SMIM14 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
GH04G039634 1.7 FANTOM5 ENCODE dbSUPER 17.5 +1.7 1727 6.4 CREB3L1 AGO1 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 GLIS1 SMIM14 N4BP2 ZBTB12BP ENSG00000250568 LOC105374419 GC04P039621
GH04G039611 1.4 Ensembl ENCODE dbSUPER 13.4 +24.6 24570 5.9 HDGF TBP PKNOX1 FOXA2 TBL1XR1 BMI1 CBX5 SCRT2 FOS RELB SMIM14 RPL9 UBE2K RNU7-11P GC04M039547
GH04G039620 1.5 Ensembl ENCODE dbSUPER 11.6 +15.1 15144 7.9 HDGF PKNOX1 MLX ARID4B FEZF1 ZNF121 GATA2 ZNF143 FOS ZNF202 SMIM14 RPL9 GC04P039621 LOC105374419
GH04G039468 1.5 Ensembl ENCODE dbSUPER 11.2 +169.6 169554 1.5 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF143 RPL9 PDS5A LOC105374419 SMIM14 KLB RNU6-887P LOC401127
GH04G039631 1 ENCODE dbSUPER 15.1 +6.7 6711 1.4 HDGF TBL1XR1 ZSCAN4 RBBP5 EED RELB IKZF2 ZNF3 NR2F1 BHLHE40 SMIM14 LOC105374419 GC04P039621
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMIM14 on UCSC Golden Path with GeneCards custom track

Promoters for SMIM14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000167647 790 3401 CREB3L1 AGO1 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 GLIS1

Genomic Location for SMIM14 Gene

Chromosome:
4
Start:
39,546,330 bp from pter
End:
39,639,090 bp from pter
Size:
92,761 bases
Orientation:
Minus strand

Genomic View for SMIM14 Gene

Genes around SMIM14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM14 Gene

Proteins for SMIM14 Gene

  • Protein details for SMIM14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QK8-SIM14_HUMAN
    Recommended name:
    Small integral membrane protein 14
    Protein Accession:
    Q96QK8

    Protein attributes for SMIM14 Gene

    Size:
    99 amino acids
    Molecular mass:
    10710 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SMIM14 Gene

Post-translational modifications for SMIM14 Gene

  • Ubiquitination at isoforms=83
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMIM14 Gene

Domains & Families for SMIM14 Gene

Protein Domains for SMIM14 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SMIM14: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SMIM14 Gene

Function for SMIM14 Gene

Gene Ontology (GO) - Molecular Function for SMIM14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with SMIM14: view
genes like me logo Genes that share phenotypes with SMIM14: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMIM14 Gene

Localization for SMIM14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM14 Gene

Endoplasmic reticulum 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 SMIM14 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 2
plasma membrane 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SMIM14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 24499674
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM14: view

Pathways & Interactions for SMIM14 Gene

SuperPathways for SMIM14 Gene

No Data Available

Interacting Proteins for SMIM14 Gene

Gene Ontology (GO) - Biological Process for SMIM14 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMIM14 Gene

Transcripts for SMIM14 Gene

Unigene Clusters for SMIM14 Gene

Small integral membrane protein 14:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM14 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f
SP1:
SP2: - -
SP3: -
SP4: - - -
SP5: - -
SP6: - - - -

Relevant External Links for SMIM14 Gene

GeneLoc Exon Structure for
SMIM14
ECgene alternative splicing isoforms for
SMIM14

Expression for SMIM14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMIM14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMIM14 Gene

This gene is overexpressed in Liver (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of SMIM14 Gene:

SMIM14

SOURCE GeneReport for Unigene cluster for SMIM14 Gene:

Hs.576320

Evidence on tissue expression from TISSUES for SMIM14 Gene

  • Nervous system(3.2)
  • Liver(2.4)
genes like me logo Genes that share expression patterns with SMIM14: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMIM14 Gene

Orthologs for SMIM14 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMIM14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMIM14 34 35
  • 98.65 (n)
dog
(Canis familiaris)
Mammalia SMIM14 34 35
  • 93.94 (n)
cow
(Bos Taurus)
Mammalia SMIM14 34 35
  • 91.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMIM14 35
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smim14 34
  • 83.84 (n)
mouse
(Mus musculus)
Mammalia Smim14 34 16 35
  • 82.49 (n)
oppossum
(Monodelphis domestica)
Mammalia SMIM14 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4ORF34 34
  • 81.14 (n)
SMIM14 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMIM14 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smim14 34
  • 68.35 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12233 34
zebrafish
(Danio rerio)
Actinopterygii smim14 34 35
  • 67.34 (n)
Dr.9013 34
fruit fly
(Drosophila melanogaster)
Insecta CG13585 35
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C34C12.4 35
  • 38 (a)
OneToOne
Species where no ortholog for SMIM14 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)
  • 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 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)

Evolution for SMIM14 Gene

ENSEMBL:
Gene Tree for SMIM14 (if available)
TreeFam:
Gene Tree for SMIM14 (if available)

Paralogs for SMIM14 Gene

Pseudogenes.org Pseudogenes for SMIM14 Gene

genes like me logo Genes that share paralogs with SMIM14: view

No data available for Paralogs for SMIM14 Gene

Variants for SMIM14 Gene

Sequence variations from dbSNP and Humsavar for SMIM14 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000013776 -- 39,622,054(+) ATAAA(A/G)ATAAA intron-variant
rs1000029840 -- 39,609,134(+) ACCAT(C/G)CCCGG intron-variant
rs1000082002 -- 39,608,788(+) TGCAA(A/G)TTTTG intron-variant
rs1000115607 -- 39,628,944(+) GACAG(G/T)CTGGT intron-variant, upstream-variant-2KB
rs1000180778 -- 39,615,991(+) AACAT(A/G)CTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMIM14 Gene

Variant ID Type Subtype PubMed ID
esv2658556 CNV deletion 23128226
esv2678557 CNV deletion 23128226
esv2762428 CNV loss 21179565
esv3600287 CNV loss 21293372
nsv1010784 CNV gain 25217958
nsv1136839 CNV deletion 24896259
nsv1161080 CNV deletion 26073780
nsv441869 CNV loss 18776908
nsv478919 CNV novel sequence insertion 20440878
nsv514208 CNV loss 21397061
nsv997937 CNV gain 25217958

Variation tolerance for SMIM14 Gene

Residual Variation Intolerance Score: 49.5% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMIM14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM14 Gene

Disorders for SMIM14 Gene

Relevant External Links for SMIM14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMIM14

No disorders were found for SMIM14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMIM14 Gene

Publications for SMIM14 Gene

  1. Characterization of the cellular localization of C4orf34 as a novel endoplasmic reticulum resident protein. (PMID: 24499674) Jun M.H. … Jang D.J. (BMB Rep 2014) 2 3 4 64
  2. MISP: The missing link between extracellular matrix and astral microtubules. (PMID: 23759569) Nain A.S. … Cimini D. (Cell Cycle 2013) 2 3 64
  3. A protein interaction framework for human mRNA degradation. (PMID: 15231747) Lehner B. … Sanderson C.M. (Genome Res. 2004) 2 3 64
  4. 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) 3 4 64
  5. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3 64

Products for SMIM14 Gene

Sources for SMIM14 Gene

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