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Aliases for FAM193A Gene

Aliases for FAM193A Gene

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

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. An important paralog of this gene is FAM193B.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM193A Gene

Genomics for FAM193A Gene

Regulatory Elements for FAM193A Gene

Enhancers for FAM193A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G002570 0.9 Ensembl ENCODE 12.1 +34.2 34196 1.6 PKNOX1 GABPA ZFHX2 POLR2A EGR1 NBN MLLT1 ZBTB33 CREM SPI1 RNF4 FAM193A LOC105374353 SH3BP2 GC04M002564 GC04P002581
GH04G002573 0.6 Ensembl 12.5 +38.1 38070 1.8 PKNOX1 MAX CEBPB MNT MYC ZBTB17 RNF4 FAM193A LOC105374353 GC04P002581 GC04M002564
GH04G002582 0.6 Ensembl 12.5 +45.7 45670 0.2 CTBP1 GLIS1 CEBPB ZHX2 DPF2 MNT ZIC2 FAM193A GC04P002581 ENSG00000248155
GH04G002659 0.6 ENCODE 12.4 +125.0 125019 3.6 BHLHE40 CEBPB CEBPG ZNF316 CREB1 FOS MAFK NFE2L2 TNIP2 FAM193A RNF4 ZFYVE28 SH3BP2 GC04P002694 ENSG00000206738
GH04G002745 1.4 Ensembl ENCODE dbSUPER 5.1 +210.1 210095 3.2 PKNOX1 TBL1XR1 BMI1 YBX1 EGR1 ZNF143 ZNF207 FOS RELB ETV6 ADD1 TNIP2 RNF4 FAM193A SH3BP2 GC04P002755 GC04M002730
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM193A on UCSC Golden Path with GeneCards custom track

Promoters for FAM193A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164968 169 2801 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 KLF13

Genomic Location for FAM193A Gene

Chromosome:
4
Start:
2,536,631 bp from pter
End:
2,732,575 bp from pter
Size:
195,945 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

    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

Protein Domains for FAM193A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM193A Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for FAM193A Gene

Function for FAM193A Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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
cytosol 3
plasma membrane 2
nucleus 2
mitochondrion 1

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

Pathways & Interactions for FAM193A Gene

SuperPathways for FAM193A Gene

No Data Available

Interacting Proteins for FAM193A Gene

Selected Interacting proteins: P78312-F193A_HUMAN for FAM193A Gene via 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

Unigene Clusters for FAM193A Gene

Family with sequence similarity 193, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
FAM193A

Expression for FAM193A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of FAM193A Gene:

FAM193A

SOURCE GeneReport for Unigene cluster for FAM193A Gene:

Hs.652364

Evidence on tissue expression from TISSUES for FAM193A Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with FAM193A: view

Primer Products

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 34 35
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia FAM193A 34 35
  • 87.02 (n)
mouse
(Mus musculus)
Mammalia Fam193a 34 16 35
  • 86.22 (n)
rat
(Rattus norvegicus)
Mammalia Fam193a 34
  • 82.82 (n)
cow
(Bos Taurus)
Mammalia FAM193A 34 35
  • 81.45 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM193A 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM193A 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM193A 34 35
  • 76.11 (n)
lizard
(Anolis carolinensis)
Reptilia FAM193A 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam193a 34
  • 71.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3384 34
zebrafish
(Danio rerio)
Actinopterygii LOC100534836 34
  • 68.68 (n)
fam193a 35
  • 46 (a)
OneToOne
Dr.11568 34
Species where no ortholog for FAM193A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM193A Gene

ENSEMBL:
Gene Tree for FAM193A (if available)
TreeFam:
Gene Tree for FAM193A (if available)

Paralogs for FAM193A Gene

Paralogs for FAM193A Gene

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

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

Variants for FAM193A Gene

Sequence variations from dbSNP and Humsavar for FAM193A Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000098554 -- 2,606,758(+) GTTAC(-/A)AAAAA intron-variant
rs1000101762 -- 2,652,139(+) GAGTA(C/G)CCTTC intron-variant
rs1000107258 -- 2,618,911(+) TTTTT(C/T)TGTAG intron-variant
rs1000110632 -- 2,641,601(+) AGTGA(A/G)CTGAA intron-variant
rs1000111842 -- 2,723,779(+) TTGGA(A/G)GGTTG intron-variant

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)

Relevant External Links 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

Relevant External Links for FAM193A

Genetic Association Database (GAD)
FAM193A
Human Genome Epidemiology (HuGE) Navigator
FAM193A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM193A

No disorders were found for FAM193A Gene.

No data available for MalaCards , 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 J.-E. (DNA Res. 1998) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PMID: 24255178) Couzens A.L. … Gingras A.C. (Sci Signal 2013) 3 64
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64
  5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PMID: 21406692) Rigbolt K.T. … Blagoev B. (Sci. Signal. 2011) 4 64

Products for FAM193A Gene

Sources for FAM193A Gene

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