Aliases for FAM193A Gene

Aliases for FAM193A Gene

  • Family With Sequence Similarity 193 Member A 2 3 5
  • Protein FAM193A 3 4
  • RES4-22 2 3
  • C4orf8 3 4
  • Family With Sequence Similarity 193, Member A 2
  • Chromosome 4 Open Reading Frame 8 2
  • Protein IT14 4
  • FAM193A 5

External Ids for FAM193A Gene

Previous HGNC Symbols for FAM193A Gene

  • C4orf8

Previous GeneCards Identifiers for FAM193A Gene

  • GC04P002596
  • GC04P002626

Summaries for FAM193A Gene

GeneCards Summary for FAM193A Gene

FAM193A (Family With Sequence Similarity 193 Member A) is a Protein Coding gene. Diseases associated with FAM193A include Basal Ganglia Disease and Wolf-Hirschhorn Syndrome. An important paralog of this gene is FAM193B.

Additional gene information for FAM193A 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 FAM193A Gene

Genomics for FAM193A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM193A 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 FAM193A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM193A

Genomic Locations for FAM193A Gene

Genomic Locations for FAM193A Gene
chr4:2,535,375-2,732,575
(GRCh38/hg38)
Size:
197,201 bases
Orientation:
Plus strand
chr4:2,626,988-2,734,302
(GRCh37/hg19)
Size:
107,315 bases
Orientation:
Plus strand

Genomic View for FAM193A Gene

Genes around FAM193A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM193A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM193A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM193A Gene

Proteins for FAM193A Gene

  • Protein details for FAM193A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78312-F193A_HUMAN
    Recommended name:
    Protein FAM193A
    Protein Accession:
    P78312
    Secondary Accessions:
    • B7ZM85
    • B9EGR0
    • E9PFA1
    • O43607
    • P78311
    • P78313
    • Q9UEG8

    Protein attributes for FAM193A Gene

    Size:
    1265 amino acids
    Molecular mass:
    139988 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for FAM193A Gene

neXtProt entry for FAM193A Gene

Post-translational modifications for FAM193A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM193A Gene

Domains & Families for FAM193A Gene

Gene Families for FAM193A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM193A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM193A Gene

GenScript: Design optimal peptide antigens:
  • C4orf8 protein (B7ZM85_HUMAN)
  • Protein IT14 (F193A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78312

UniProtKB/Swiss-Prot:

F193A_HUMAN :
  • Belongs to the FAM193 family.
Family:
  • Belongs to the FAM193 family.
genes like me logo Genes that share domains with FAM193A: view

Function for FAM193A Gene

Phenotypes From GWAS Catalog for FAM193A Gene

genes like me logo Genes that share phenotypes with FAM193A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM193A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM193A Gene

Localization for FAM193A 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 FAM193A gene
Compartment Confidence
plasma membrane 2
nucleus 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM193A Gene

Pathways & Interactions for FAM193A Gene

PathCards logo

SuperPathways for FAM193A Gene

No Data Available

Interacting Proteins for FAM193A Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000324587 P78312-F193A_HUMAN for FAM193A Gene via STRING IID

Gene Ontology (GO) - Biological Process for FAM193A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM193A Gene

Drugs & Compounds for FAM193A Gene

No Compound Related Data Available

Transcripts for FAM193A Gene

mRNA/cDNA for FAM193A Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
11 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 FAM193A

Alternative Splicing Database (ASD) splice patterns (SP) for FAM193A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4:
SP5: -
SP6: -
SP7: - - -

ExUns: 22 ^ 23 ^ 24
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for FAM193A Gene

GeneLoc Exon Structure for
FAM193A

Expression for FAM193A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM193A Gene

Protein differential expression in normal tissues from HIPED for FAM193A Gene

This gene is overexpressed in Heart (55.6) and Placenta (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM193A Gene



Protein tissue co-expression partners for FAM193A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM193A

SOURCE GeneReport for Unigene cluster for FAM193A Gene:

Hs.652364

Evidence on tissue expression from TISSUES for FAM193A Gene

  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with FAM193A: 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM193A Gene

Orthologs for FAM193A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM193A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM193A 30 31
  • 99.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM193A 30 31
  • 87.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam193a 30 17 31
  • 86.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam193a 30
  • 82.82 (n)
Cow
(Bos Taurus)
Mammalia FAM193A 30 31
  • 81.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM193A 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM193A 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM193A 30 31
  • 76.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM193A 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam193a 30
  • 71.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3384 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100534836 30
  • 68.68 (n)
fam193a 31
  • 46 (a)
OneToOne
Dr.11568 30
Species where no ortholog for FAM193A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FAM193A Gene

ENSEMBL:
Gene Tree for FAM193A (if available)
TreeFam:
Gene Tree for FAM193A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM193A: view image

Paralogs for FAM193A Gene

Paralogs for FAM193A Gene

(2) SIMAP similar genes for FAM193A Gene using alignment to 4 proteins:

  • F193A_HUMAN
  • D6R990_HUMAN
  • D6RFZ4_HUMAN
  • E7EUR8_HUMAN
genes like me logo Genes that share paralogs with FAM193A: view

Variants for FAM193A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM193A Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
773677 Benign: not provided 2,663,247(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
773678 Benign: not provided 2,690,977(+) C/T INTRON_VARIANT
rs17164077 - p.Met192Val
rs17681870 - p.Ile1115Val

Additional dbSNP identifiers (rs#s) for FAM193A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM193A Gene

Variant ID Type Subtype PubMed ID
esv2678225 CNV deletion 23128226
esv2726835 CNV deletion 23290073
esv2726856 CNV deletion 23290073
esv275488 CNV loss 21479260
esv3331205 CNV duplication 20981092
esv3563260 CNV deletion 23714750
nsv1142381 CNV tandem duplication 24896259
nsv470001 CNV gain 18288195
nsv470002 CNV loss 18288195
nsv516797 CNV loss 19592680
nsv593434 CNV gain 21841781
nsv829839 CNV loss 17160897
nsv954415 CNV deletion 24416366

Variation tolerance for FAM193A Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.29; 70.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM193A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM193A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM193A Gene

Disorders for FAM193A Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM193A Gene - From: DISEASES

Disorder Aliases PubMed IDs
basal ganglia disease
  • basal ganglia diseases
wolf-hirschhorn syndrome
  • whs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM193A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FAM193A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM193A Gene

Publications for FAM193A Gene

  1. The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3. (PMID: 9734812) Hadano S … Ikeda JE (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  4. PTPN14 regulates Roquin2 stability by tyrosine dephosphorylation. (PMID: 30209976) Choi J … Busino L (Cell cycle (Georgetown, Tex.) 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for FAM193A Gene

  • Signalway ELISA kits for FAM193A

Sources for FAM193A Gene