Aliases for SMIM21 Gene

Aliases for SMIM21 Gene

  • Small Integral Membrane Protein 21 2 3 4 5
  • C18orf62 3 4
  • Chromosome 18 Open Reading Frame 62 2
  • SMIM21 5

External Ids for SMIM21 Gene

Previous HGNC Symbols for SMIM21 Gene

  • C18orf62

Previous GeneCards Identifiers for SMIM21 Gene

  • GC18M073122

Summaries for SMIM21 Gene

GeneCards Summary for SMIM21 Gene

SMIM21 (Small Integral Membrane Protein 21) is a Protein Coding gene. Diseases associated with SMIM21 include Vertical Talus, Congenital and Homocarnosinosis.

Additional gene information for SMIM21 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 SMIM21 Gene

Genomics for SMIM21 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMIM21 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
GH18J075454 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 600.7 -0.2 -170 2.8 EZH2 FOXA2 BHLHE40 SPI1 ZFX ENSG00000266774 ENSG00000287281 LOC107985177 SMIM21 TSHZ1 ENSG00000286603 lnc-TSHZ1-4 LOC105372204
GH18J075430 Enhancer 0.8 FANTOM5 27.1 +25.5 25463 0.2 ATF7 PRDM10 ZNF629 ZIC2 PATZ1 ZNF600 SCRT2 KLF9 ZNF639 ZNF10 SMIM21 piR-48035 ENSG00000266774 lnc-TSHZ1-4 TSHZ1
GH18J075364 Enhancer 0.6 Ensembl ENCODE 11 +90.9 90852 1.6 ATF7 CREB1 ATF2 SMIM21 ENSG00000276993 HSALNG0122498 TSHZ1
GH18J075391 Enhancer 0.4 Ensembl CraniofacialAtlas 11.5 +64.0 64029 1.2 POLR2A HSALNG0122502 SMIM21 ENSG00000276993 TSHZ1
GH18J075360 Enhancer 0.4 Ensembl 11 +94.9 94852 0.8 NR2F2 RXRA GLIS1 BHLHE40 SMIM21 CNDP2 ENSG00000276993 HSALNG0122498 TSHZ1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMIM21 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMIM21

Genomic Locations for SMIM21 Gene

Genomic Locations for SMIM21 Gene
chr18:75,409,476-75,455,653
(GRCh38/hg38)
Size:
46,178 bases
Orientation:
Minus strand
chr18:73,121,431-73,139,658
(GRCh37/hg19)
Size:
18,228 bases
Orientation:
Minus strand

Genomic View for SMIM21 Gene

Genes around SMIM21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM21 Gene

Proteins for SMIM21 Gene

  • Protein details for SMIM21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3B7S5-SMI21_HUMAN
    Recommended name:
    Small integral membrane protein 21
    Protein Accession:
    Q3B7S5

    Protein attributes for SMIM21 Gene

    Size:
    101 amino acids
    Molecular mass:
    11722 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SMIM21 Gene

Post-translational modifications for SMIM21 Gene

No Post-translational modifications

Other Protein References for SMIM21 Gene

No data available for DME Specific Peptides for SMIM21 Gene

Domains & Families for SMIM21 Gene

Gene Families for SMIM21 Gene

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

Protein Domains for SMIM21 Gene

ProtoNet:
genes like me logo Genes that share domains with SMIM21: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SMIM21 Gene

Function for SMIM21 Gene

Phenotypes From GWAS Catalog for SMIM21 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMIM21

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMIM21 Gene

Localization for SMIM21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM21 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 SMIM21 gene
Compartment Confidence
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for SMIM21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM21: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMIM21 Gene

Pathways & Interactions for SMIM21 Gene

PathCards logo

SuperPathways for SMIM21 Gene

No Data Available

Interacting Proteins for SMIM21 Gene

Selected Interacting proteins: Q3B7S5-SMI21_HUMAN for SMIM21 Gene via UniProtKB

Symbol External ID(s) Details
DESI1

Gene Ontology (GO) - Biological Process for SMIM21 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMIM21 Gene

Drugs & Compounds for SMIM21 Gene

No Compound Related Data Available

Transcripts for SMIM21 Gene

mRNA/cDNA for SMIM21 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 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 SMIM21

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM21 Gene

No ASD Table

Relevant External Links for SMIM21 Gene

GeneLoc Exon Structure for
SMIM21

Expression for SMIM21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMIM21 Gene

mRNA differential expression in normal tissues according to GTEx for SMIM21 Gene

This gene is overexpressed in Testis (x47.8).

Protein differential expression in normal tissues from HIPED for SMIM21 Gene

This gene is overexpressed in Tlymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SMIM21 Gene



Protein tissue co-expression partners for SMIM21 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMIM21

SOURCE GeneReport for Unigene cluster for SMIM21 Gene:

Hs.666744
genes like me logo Genes that share expression patterns with SMIM21: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMIM21 Gene

Orthologs for SMIM21 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for SMIM21 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SMIM21 30 31
  • 98.02 (n)
OneToOne
Species where no ortholog for SMIM21 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SMIM21 Gene

ENSEMBL:
Gene Tree for SMIM21 (if available)
TreeFam:
Gene Tree for SMIM21 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMIM21: view image

Paralogs for SMIM21 Gene

No data available for Paralogs for SMIM21 Gene

Variants for SMIM21 Gene

Additional dbSNP identifiers (rs#s) for SMIM21 Gene

Structural Variations from Database of Genomic Variants (DGV) for SMIM21 Gene

Variant ID Type Subtype PubMed ID
esv3583154 CNV loss 25503493
esv3643133 CNV loss 21293372

Variation tolerance for SMIM21 Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMIM21 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM21

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 SMIM21 Gene

Disorders for SMIM21 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMIM21 Gene - From: DISEASES

Disorder Aliases PubMed IDs
vertical talus, congenital
  • cvt
homocarnosinosis
  • homocarnosinase deficiency
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SMIM21: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMIM21 Gene

Publications for SMIM21 Gene

  1. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  2. A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. (PMID: 24532677) Bossini-Castillo L … Koeleman BP (Annals of the rheumatic diseases 2015) 3
  3. Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions. (PMID: 23495172) Mark PR … Haldeman-Englert CR (American journal of medical genetics. Part A 2013) 3
  4. Mood disorders in individuals with distal 18q deletions. (PMID: 24006251) Daviss WB … Cody JD (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2013) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3

Products for SMIM21 Gene

Sources for SMIM21 Gene