Aliases for SMCO4 Gene

Aliases for SMCO4 Gene

  • Single-Pass Membrane Protein With Coiled-Coil Domains 4 2 3 5
  • FN5 2 3 4
  • Single-Pass Membrane And Coiled-Coil Domain-Containing Protein 4 3 4
  • C11orf75 3 4
  • Chromosome 11 Open Reading Frame 75 2
  • UPF0443 Protein C11orf75 3
  • Protein FN5 4
  • SMCO4 5

External Ids for SMCO4 Gene

Previous HGNC Symbols for SMCO4 Gene

  • C11orf75

Previous GeneCards Identifiers for SMCO4 Gene

  • GC11M093212
  • GC11M093522
  • GC11M093891
  • GC11M094025
  • GC11M094040
  • GC11M094218
  • GC11M093532
  • GC11M093667
  • GC11M093703

Summaries for SMCO4 Gene

GeneCards Summary for SMCO4 Gene

SMCO4 (Single-Pass Membrane Protein With Coiled-Coil Domains 4) is a Protein Coding gene. Diseases associated with SMCO4 include Febrile Seizures, Familial, 1 and Familial Febrile Seizures.

Additional gene information for SMCO4 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 SMCO4 Gene

Genomics for SMCO4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMCO4 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
GH11J093541 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 606.3 +11.3 11261 3.4 CTCF HNRNPL PRDM10 ZNF629 IKZF1 KDM1A RCOR2 JUND LARP7 ZNF143 SMCO4 lnc-SMCO4-1 SLC36A4 CEP295 MED17 ENSG00000255445 C11orf54 TAF1D MN297095
GH11J093527 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 619.3 +23.3 23263 5.7 GATAD2A NFKBIZ TCF12 IKZF2 PKNOX1 SCRT2 EED DPF2 RELB EGR1 SMCO4 CEP295 MED17 C11orf54 SLC36A4 SRP14P2 lnc-SMCO4-1 piR-39807-005
GH11J093523 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.3 +28.7 28731 4.3 FOXA1 LARP7 PRDM1 RXRB IKZF2 SP1 TRIM22 PKNOX1 EED RELB SMCO4 SLC36A4 GPR83 DEUP1 MED17 SRP14P2 lnc-SMCO4-1 piR-39807-005
GH11J093481 Enhancer 1.3 Ensembl ENCODE dbSUPER 26.2 +65.6 65594 14 GATAD2A TEAD4 REST TFE3 SOX13 NFKBIZ RCOR2 ZIC2 RXRB IRF2 SMCO4 DEUP1 C11orf54 piR-39807-005 SRP14P2 lnc-SMCO4-1 SLC36A4
GH11J093515 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 27.7 +40.8 40779 6.8 ATF7 BACH1 LARP7 STAT3 IKZF2 TRIM22 ARID3A ZSCAN29 DPF2 RELB SMCO4 C11orf54 SLC36A4 SRP14P2 lnc-SMCO4-1 piR-39807-005
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMCO4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMCO4

Genomic Locations for SMCO4 Gene

Genomic Locations for SMCO4 Gene
chr11:93,478,472-93,553,979
(GRCh38/hg38)
Size:
75,508 bases
Orientation:
Minus strand
chr11:93,211,638-93,276,674
(GRCh37/hg19)
Size:
65,037 bases
Orientation:
Minus strand

Genomic View for SMCO4 Gene

Genes around SMCO4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMCO4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMCO4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMCO4 Gene

Proteins for SMCO4 Gene

  • Protein details for SMCO4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRQ5-SMCO4_HUMAN
    Recommended name:
    Single-pass membrane and coiled-coil domain-containing protein 4
    Protein Accession:
    Q9NRQ5

    Protein attributes for SMCO4 Gene

    Size:
    59 amino acids
    Molecular mass:
    6738 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SMCO4 Gene

Post-translational modifications for SMCO4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SMCO4 Gene

Domains & Families for SMCO4 Gene

Gene Families for SMCO4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SMCO4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMCO4 Gene

GenScript: Design optimal peptide antigens:
  • Protein FN5 (CK075_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRQ5

UniProtKB/Swiss-Prot:

SMCO4_HUMAN :
  • Belongs to the SMCO4 family.
Family:
  • Belongs to the SMCO4 family.
genes like me logo Genes that share domains with SMCO4: view

Function for SMCO4 Gene

Phenotypes From GWAS Catalog for SMCO4 Gene

Gene Ontology (GO) - Molecular Function for SMCO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with SMCO4: view
genes like me logo Genes that share phenotypes with SMCO4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMCO4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMCO4 Gene

Localization for SMCO4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMCO4 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 SMCO4 gene
Compartment Confidence
plasma membrane 2
extracellular 2
nucleus 2
cytoskeleton 1
cytosol 1
mitochondrion 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for SMCO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMCO4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMCO4 Gene

Pathways & Interactions for SMCO4 Gene

PathCards logo

SuperPathways for SMCO4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMCO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SMCO4: view

No data available for Pathways by source and SIGNOR curated interactions for SMCO4 Gene

Drugs & Compounds for SMCO4 Gene

No Compound Related Data Available

Transcripts for SMCO4 Gene

mRNA/cDNA for SMCO4 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
6 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 SMCO4

Alternative Splicing Database (ASD) splice patterns (SP) for SMCO4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1:
SP2: - -

Relevant External Links for SMCO4 Gene

GeneLoc Exon Structure for
SMCO4

Expression for SMCO4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMCO4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMCO4 Gene

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

Protein differential expression in normal tissues from HIPED for SMCO4 Gene

This gene is overexpressed in Spleen (42.8), Ovary (11.1), Liver (8.1), and Adrenal (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SMCO4 Gene



Protein tissue co-expression partners for SMCO4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMCO4

SOURCE GeneReport for Unigene cluster for SMCO4 Gene:

Hs.438064

Evidence on tissue expression from TISSUES for SMCO4 Gene

  • Intestine(4.3)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with SMCO4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMCO4 Gene

Orthologs for SMCO4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMCO4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SMCO4 30 31
  • 98.31 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Smco4 31
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SMCO4 31
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SMCO4 31
  • 93 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C11ORF75 31
  • 95 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SMCO4 31
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.438 30
Zebrafish
(Danio rerio)
Actinopterygii SMCO4 31
  • 81 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1110 30
Species where no ortholog for SMCO4 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)
  • Dog (Canis familiaris)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rat (Rattus norvegicus)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SMCO4 Gene

ENSEMBL:
Gene Tree for SMCO4 (if available)
TreeFam:
Gene Tree for SMCO4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMCO4: view image

Paralogs for SMCO4 Gene

No data available for Paralogs for SMCO4 Gene

Variants for SMCO4 Gene

Additional dbSNP identifiers (rs#s) for SMCO4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SMCO4 Gene

Variant ID Type Subtype PubMed ID
dgv79n21 CNV loss 19592680
esv2760208 CNV loss 21179565
esv3627294 CNV gain 21293372
nsv1039134 CNV loss 25217958
nsv1070065 CNV deletion 25765185

Variation tolerance for SMCO4 Gene

Residual Variation Intolerance Score: 56.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 8.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMCO4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMCO4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMCO4 Gene

Disorders for SMCO4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMCO4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
febrile seizures, familial, 1
  • feb1
familial febrile seizures
  • familial febrile convulsions
- elite association - COSMIC cancer census association via MalaCards
Search SMCO4 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with SMCO4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMCO4 Gene

Publications for SMCO4 Gene

  1. Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts. (PMID: 10863097) Kehrer-Sawatzki H … Krone W (Gene 2000) 2 3 4
  2. 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
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
  5. Systematic identification of pathological lamin A interactors. (PMID: 24623722) Dittmer TA … Misteli T (Molecular biology of the cell 2014) 3

Products for SMCO4 Gene

Sources for SMCO4 Gene