Aliases for FAM243A Gene

Aliases for FAM243A Gene

  • Family With Sequence Similarity 243 Member A 2 3 5
  • Protein FAM243A 3 4
  • C21orf140 3 4
  • Chromosome 21 Open Reading Frame 140 2
  • Uncharacterized Protein C21orf140 3
  • FAM243A 5

External Ids for FAM243A Gene

Previous HGNC Symbols for FAM243A Gene

  • C21orf140

Summaries for FAM243A Gene

GeneCards Summary for FAM243A Gene

FAM243A (Family With Sequence Similarity 243 Member A) is a Protein Coding gene. Diseases associated with FAM243A include Diffuse Idiopathic Skeletal Hyperostosis. An important paralog of this gene is FAM243B.

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 FAM243A Gene

Genomics for FAM243A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM243A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM243A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM243A

Genomic Locations for FAM243A Gene

Latest Assembly
chr21:34,400,112-34,401,072
(GRCh38/hg38)
Size:
961 bases
Orientation:
Minus strand

Previous Assembly
chr21:35,772,410-35,773,370
(GRCh37/hg19 by Entrez Gene)
Size:
961 bases
Orientation:
Minus strand

chr21:35,772,615-35,773,370
(GRCh37/hg19 by Ensembl)
Size:
756 bases
Orientation:
Minus strand

Genomic View for FAM243A Gene

Genes around FAM243A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM243A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM243A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM243A Gene

Proteins for FAM243A Gene

  • Protein details for FAM243A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B9A014-F243A_HUMAN
    Recommended name:
    Protein FAM243A
    Protein Accession:
    B9A014

    Protein attributes for FAM243A Gene

    Size:
    251 amino acids
    Molecular mass:
    29214 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM243A Gene

Post-translational modifications for FAM243A Gene

No Post-translational modifications

Other Protein References for FAM243A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM243A Gene

Domains & Families for FAM243A Gene

Gene Families for FAM243A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM243A Gene

InterPro:

Graphical View of Domain Structure for InterPro Entry

B9A014

UniProtKB/Swiss-Prot:

F243A_HUMAN :
  • Belongs to the FAM243 family.
Family:
  • Belongs to the FAM243 family.
genes like me logo Genes that share domains with FAM243A: view

No data available for Suggested Antigen Peptide Sequences for FAM243A Gene

Function for FAM243A Gene

Phenotypes From GWAS Catalog for FAM243A Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM243A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM243A Gene

Localization for FAM243A Gene

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 FAM243A gene
Compartment Confidence
mitochondrion 2
cytosol 1
nucleus 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FAM243A Gene

Pathways & Interactions for FAM243A Gene

PathCards logo

SuperPathways for FAM243A Gene

No Data Available

Interacting Proteins for FAM243A Gene

Gene Ontology (GO) - Biological Process for FAM243A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM243A Gene

Drugs & Compounds for FAM243A Gene

No Compound Related Data Available

Transcripts for FAM243A Gene

mRNA/cDNA for FAM243A Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM243A

Alternative Splicing Database (ASD) splice patterns (SP) for FAM243A Gene

No ASD Table

Relevant External Links for FAM243A Gene

GeneLoc Exon Structure for
FAM243A

Expression for FAM243A Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM243A Gene

Orthologs for FAM243A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM243A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC101057936 29
  • 99.6 (n)
C21orf140 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC102155325 29
  • 85.55 (n)
C21orf140 30
  • 79 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MGC134427 29
  • 84.2 (n)
C21orf140 30
  • 78 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 4930563D23Rik 29 30
  • 78.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC498063 29
  • 75.7 (n)
Oppossum
(Monodelphis domestica)
Mammalia C21orf140 30
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C21orf140 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC101748326 29
  • 62.28 (n)
C21orf140 30
  • 51 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C21orf140 30
  • 55 (a)
OneToOne
Species where no ortholog for FAM243A 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 FAM243A Gene

ENSEMBL:
Gene Tree for FAM243A (if available)
TreeFam:
Gene Tree for FAM243A (if available)
Alliance of Genome Resources:
Additional Orthologs for FAM243A

Paralogs for FAM243A Gene

Paralogs for FAM243A Gene

genes like me logo Genes that share paralogs with FAM243A: view

Variants for FAM243A Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAM243A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FAM243A Gene

Variant ID Type Subtype PubMed ID
dgv4426n100 CNV gain 25217958
dgv7824n54 CNV gain 21841781
esv2762109 CNV gain 21179565
esv3575386 CNV gain 25503493
nsv1055429 CNV gain 25217958
nsv521323 CNV gain 19592680

Variation tolerance for FAM243A Gene

Gene Damage Index Score: 1.39; 27.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM243A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM243A
Leiden Open Variation Database (LOVD)
FAM243A

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 FAM243A Gene

Disorders for FAM243A Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM243A Gene - From: COP

Disorder Aliases PubMed IDs
diffuse idiopathic skeletal hyperostosis
  • ankylosing vertebral hyperostosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM243A

genes like me logo Genes that share disorders with FAM243A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM243A Gene

Publications for FAM243A 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
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4

Products for FAM243A Gene

Sources for FAM243A Gene