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Aliases for FAM43A Gene

Aliases for FAM43A Gene

  • Family With Sequence Similarity 43 Member A 2 3 5
  • Family With Sequence Similarity 43, Member A 2

External Ids for FAM43A Gene

Previous GeneCards Identifiers for FAM43A Gene

  • GC03P195887
  • GC03P194406
  • GC03P191784

Summaries for FAM43A Gene

GeneCards Summary for FAM43A Gene

FAM43A (Family With Sequence Similarity 43 Member A) is a Protein Coding gene. An important paralog of this gene is FAM43B.

Gene Wiki entry for FAM43A Gene

Additional gene information for FAM43A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM43A Gene

Genomics for FAM43A Gene

Regulatory Elements for FAM43A Gene

Enhancers for FAM43A 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
GH03H195146 2 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +471.1 471148 20 HDGF PKNOX1 FOXA2 MLX SIN3A ARID4B DMAP1 SLC30A9 ZNF766 ZNF143 SDHAP1 LSG1 XXYLT1 MIR570 LINC00969 SDHAP2 RNU6-25P FAM43A RNU6ATAC24P ENSG00000260261
GH03H194685 1.3 Ensembl ENCODE 13.3 +3.0 2970 7 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 SP5 NFYC LSG1 FAM43A GC03P194686 ENSG00000233987
GH03H195257 1.6 FANTOM5 ENCODE dbSUPER 10 +573.6 573641 3 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF143 ZNF548 SDHAP1 SDHAP2 RNU6ATAC24P LSG1 LINC00969 FAM43A XXYLT1 ACAP2 GC03P195246
GH03H194682 1.3 Ensembl ENCODE 11.6 -3.1 -3107 1 HDGF PKNOX1 ATF1 ARNT ARID4B ZNF2 ZNF766 GATA2 ZNF143 ZNF207 LSG1 FAM43A XXYLT1-AS1 XXYLT1
GH03H194069 1.4 ENCODE dbSUPER 10 -614.7 -614667 4 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 LSG1 LRRC15 OPA1-AS1 ENSG00000232874 HES1 FAM43A LINC02028 ENSG00000229334 ENSG00000229964
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM43A on UCSC Golden Path with GeneCards custom track

Promoters for FAM43A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000308175 407 1401 ARID4B SIN3A ZNF2 YY1 ATF7 SP3 SP5 MIER2 REST SMARCB1

Genomic Location for FAM43A Gene

Chromosome:
3
Start:
194,685,893 bp from pter
End:
194,689,037 bp from pter
Size:
3,145 bases
Orientation:
Plus strand

Genomic View for FAM43A Gene

Genes around FAM43A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM43A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM43A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM43A Gene

Proteins for FAM43A Gene

  • Protein details for FAM43A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2R8-FA43A_HUMAN
    Recommended name:
    Protein FAM43A
    Protein Accession:
    Q8N2R8
    Secondary Accessions:
    • A3KME2
    • Q8IXP4
    • Q8WZ07

    Protein attributes for FAM43A Gene

    Size:
    423 amino acids
    Molecular mass:
    45776 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL55769.1; Type=Frameshift; Positions=246; Evidence={ECO:0000305};

neXtProt entry for FAM43A Gene

Post-translational modifications for FAM43A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM43A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM43A Gene

Domains & Families for FAM43A Gene

Gene Families for FAM43A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM43A Gene

Suggested Antigen Peptide Sequences for FAM43A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N2R8

UniProtKB/Swiss-Prot:

FA43A_HUMAN :
  • Belongs to the FAM43 family.
Family:
  • Belongs to the FAM43 family.
genes like me logo Genes that share domains with FAM43A: view

Function for FAM43A Gene

Phenotypes From GWAS Catalog for FAM43A Gene

Phenotypes for FAM43A Gene

GenomeRNAi human phenotypes for FAM43A:
genes like me logo Genes that share phenotypes with FAM43A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM43A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 FAM43A Gene

Localization for FAM43A 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 FAM43A gene
Compartment Confidence
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM43A Gene

Pathways & Interactions for FAM43A Gene

SuperPathways for FAM43A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM43A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM43A Gene

Drugs & Compounds for FAM43A Gene

No Compound Related Data Available

Transcripts for FAM43A Gene

mRNA/cDNA for FAM43A Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(78) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM43A Gene

Family with sequence similarity 43, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM43A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for FAM43A Gene

No ASD Table

Relevant External Links for FAM43A Gene

GeneLoc Exon Structure for
FAM43A
ECgene alternative splicing isoforms for
FAM43A

Expression for FAM43A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM43A Gene

mRNA differential expression in normal tissues according to GTEx for FAM43A Gene

This gene is overexpressed in Spleen (x5.4).

Protein differential expression in normal tissues from HIPED for FAM43A Gene

This gene is overexpressed in Neutrophil (44.5) and Spinal cord (24.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAM43A Gene



Protein tissue co-expression partners for FAM43A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM43A Gene:

FAM43A

SOURCE GeneReport for Unigene cluster for FAM43A Gene:

Hs.435080

Evidence on tissue expression from TISSUES for FAM43A Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with FAM43A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM43A Gene

Orthologs for FAM43A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM43A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM43A 33 34
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia FAM43A 33 34
  • 91.1 (n)
rat
(Rattus norvegicus)
Mammalia LOC100909474 33
  • 85.55 (n)
mouse
(Mus musculus)
Mammalia Fam43a 16 34 33
  • 85.34 (n)
dog
(Canis familiaris)
Mammalia FAM43A 33 34
  • 83.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM43A 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM43A 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM43A 33 34
  • 77.99 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam43a 33
  • 72.69 (n)
zebrafish
(Danio rerio)
Actinopterygii fam43a 34 33
  • 72.49 (n)
OneToOne
Dr.27125 33
fruit fly
(Drosophila melanogaster)
Insecta CG8312 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F52D10.2 34
  • 27 (a)
OneToMany
Species where no ortholog for FAM43A 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)
  • 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)
  • 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)
  • 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)

Evolution for FAM43A Gene

ENSEMBL:
Gene Tree for FAM43A (if available)
TreeFam:
Gene Tree for FAM43A (if available)

Paralogs for FAM43A Gene

Paralogs for FAM43A Gene

(1) SIMAP similar genes for FAM43A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAM43A: view

Variants for FAM43A Gene

Sequence variations from dbSNP and Humsavar for FAM43A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000240679 -- 194,689,241(+) ATCCT(A/G)TATTT downstream-variant-500B
rs1000294655 -- 194,689,486(+) GAGTT(C/T)TCTGA downstream-variant-500B
rs1001131485 -- 194,685,429(+) AATAA(C/T)ATTAA upstream-variant-2KB
rs1001476265 -- 194,685,160(+) TAACG(A/G)CACAC upstream-variant-2KB
rs1002032660 -- 194,684,334(+) CTCTG(A/C/T)CTTCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FAM43A Gene

Variant ID Type Subtype PubMed ID
esv2760807 CNV loss 21179565
esv3599208 CNV loss 21293372
nsv1003445 CNV loss 25217958
nsv519476 CNV gain 19592680
nsv526568 CNV gain 19592680

Variation tolerance for FAM43A Gene

Gene Damage Index Score: 2.56; 44.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM43A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM43A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM43A Gene

Disorders for FAM43A Gene

Relevant External Links for FAM43A

Genetic Association Database (GAD)
FAM43A
Human Genome Epidemiology (HuGE) Navigator
FAM43A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM43A

No disorders were found for FAM43A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM43A Gene

Publications for FAM43A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. 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 60
  3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 60
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for FAM43A Gene

Sources for FAM43A Gene

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