Aliases for FAM216A Gene

Aliases for FAM216A Gene

  • Family With Sequence Similarity 216 Member A 2 3 5
  • Protein FAM216A 3 4
  • C12orf24 3 4
  • Family With Sequence Similarity 216, Member A 2
  • Chromosome 12 Open Reading Frame 24 2
  • Protein Predicted By Clone 23733 3
  • Uncharacterized Protein C12orf24 3
  • HSU79274 3

External Ids for FAM216A Gene

Previous HGNC Symbols for FAM216A Gene

  • C12orf24

Previous GeneCards Identifiers for FAM216A Gene

  • GC12P110907

Summaries for FAM216A Gene

GeneCards Summary for FAM216A Gene

FAM216A (Family With Sequence Similarity 216 Member A) is a Protein Coding gene. Diseases associated with FAM216A include Epilepsy, Myoclonic Juvenile. An important paralog of this gene is FAM216B.

Additional gene information for FAM216A 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 FAM216A Gene

Genomics for FAM216A Gene

GeneHancer (GH) Regulatory Elements for FAM216A Gene

Promoters and enhancers for FAM216A 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 FAM216A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM216A

Genomic Locations for FAM216A Gene

Genomic Locations for FAM216A Gene
chr12:110,468,415-110,490,387
(GRCh38/hg38)
Size:
21,973 bases
Orientation:
Plus strand
chr12:110,906,169-110,928,192
(GRCh37/hg19)
Size:
22,024 bases
Orientation:
Plus strand

Genomic View for FAM216A Gene

Genes around FAM216A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM216A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM216A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM216A Gene

Proteins for FAM216A Gene

  • Protein details for FAM216A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUB2-F216A_HUMAN
    Recommended name:
    Protein FAM216A
    Protein Accession:
    Q8WUB2
    Secondary Accessions:
    • A6NH30
    • Q99776

    Protein attributes for FAM216A Gene

    Size:
    273 amino acids
    Molecular mass:
    30792 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM216A Gene

Post-translational modifications for FAM216A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM216A Gene

No data available for DME Specific Peptides for FAM216A Gene

Domains & Families for FAM216A Gene

Gene Families for FAM216A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM216A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM216A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55388 (B4DMY2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUB2

UniProtKB/Swiss-Prot:

F216A_HUMAN :
  • Belongs to the FAM216 family.
Family:
  • Belongs to the FAM216 family.
genes like me logo Genes that share domains with FAM216A: view

Function for FAM216A Gene

Phenotypes From GWAS Catalog for FAM216A Gene

genes like me logo Genes that share phenotypes with FAM216A: view

Animal Models for FAM216A Gene

MGI Knock Outs for FAM216A:
  • Fam216a Fam216a<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM216A

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM216A Gene

Localization for FAM216A 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 FAM216A gene
Compartment Confidence
nucleus 3
cytoskeleton 2
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM216A Gene

Pathways & Interactions for FAM216A Gene

PathCards logo

SuperPathways for FAM216A Gene

No Data Available

Interacting Proteins for FAM216A Gene

;

Gene Ontology (GO) - Biological Process for FAM216A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM216A Gene

Drugs & Compounds for FAM216A Gene

No Compound Related Data Available

Transcripts for FAM216A Gene

mRNA/cDNA for FAM216A Gene

1 REFSEQ mRNAs :
10 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 FAM216A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM216A Gene

No ASD Table

Relevant External Links for FAM216A Gene

GeneLoc Exon Structure for
FAM216A

Expression for FAM216A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM216A Gene

Protein differential expression in normal tissues from HIPED for FAM216A Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM216A Gene



Protein tissue co-expression partners for FAM216A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM216A

SOURCE GeneReport for Unigene cluster for FAM216A Gene:

Hs.436618
genes like me logo Genes that share expression patterns with FAM216A: view

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM216A Gene

Orthologs for FAM216A Gene

This gene was present in the common ancestor of mammals.

Orthologs for FAM216A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM216A 31 30
  • 99.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM216A 31 30
  • 87.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM216A 31 30
  • 87.12 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam216a 17 31 30
  • 79.97 (n)
rat
(Rattus norvegicus)
Mammalia Fam216a 30
  • 79.22 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM216A 31
  • 64 (a)
OneToOne
Species where no ortholog for FAM216A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FAM216A Gene

ENSEMBL:
Gene Tree for FAM216A (if available)
TreeFam:
Gene Tree for FAM216A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM216A: view image

Paralogs for FAM216A Gene

Paralogs for FAM216A Gene

genes like me logo Genes that share paralogs with FAM216A: view

Variants for FAM216A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM216A Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs17188964 - p.Arg225Gly

Additional dbSNP identifiers (rs#s) for FAM216A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM216A Gene

Variant ID Type Subtype PubMed ID
esv3630734 CNV loss 21293372
nsv1113519 CNV deletion 24896259

Variation tolerance for FAM216A Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 30.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM216A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM216A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM216A Gene

Disorders for FAM216A Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM216A Gene - From: DISEASES

Disorder Aliases PubMed IDs
epilepsy, myoclonic juvenile
  • ejm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM216A

genes like me logo Genes that share disorders with FAM216A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM216A Gene

Publications for FAM216A Gene

  1. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 3 4 54
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54
  5. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 4 54

Products for FAM216A Gene

Sources for FAM216A Gene