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Aliases for FAM117A Gene

Aliases for FAM117A Gene

  • Family With Sequence Similarity 117 Member A 2 3 5
  • C/EBP-Induced Protein 3 4
  • Family With Sequence Similarity 117, Member A 2
  • C/EBP Induced Protein 2
  • Protein FAM117A 3

External Ids for FAM117A Gene

Previous GeneCards Identifiers for FAM117A Gene

  • GC17M045143
  • GC17M047787
  • GC17M043152

Summaries for FAM117A Gene

GeneCards Summary for FAM117A Gene

FAM117A (Family With Sequence Similarity 117 Member A) is a Protein Coding gene. An important paralog of this gene is GLCCI1.

Additional gene information for FAM117A Gene

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 FAM117A Gene

Genomics for FAM117A Gene

GeneHancer (GH) Regulatory Elements for FAM117A Gene

Promoters and enhancers for FAM117A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J049758 Promoter/Enhancer 2.7 VISTA EPDnew Ensembl ENCODE dbSUPER 680.4 +27.2 27231 6.4 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B FAM117A ENSG00000262837 UBE2Z LUC7L3 FLJ45513 SPOP COL1A1 TAC4 SLC35B1 ITGA3
GH17J049787 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 663.7 +0.5 463 2.8 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC FAM117A KAT7 ENSG00000262837 UBE2Z LUC7L3 FLJ45513 ITGA3 TAC4 COL1A1 ENSG00000250751
GH17J049190 Enhancer 1.7 FANTOM5 Ensembl ENCODE 72.3 +596.4 596441 4 CLOCK MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ZNF548 TRQ-TTG1-1 ENSG00000262837 UBE2Z FAM117A FLJ45513 ENSG00000230532 CALCOCO2 KAT7 TAC4 PICART1
GH17J048994 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 32.3 +789.7 789732 10.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 IGF2BP1 ENSG00000250838 ENSG00000262837 UBE2Z FAM117A FLJ45513 ENSG00000238804 SUMO2P17 KAT7 PRAC1
GH17J050144 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.5 -361.1 -361057 11.6 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 PPP1R9B SGCA ENSG00000262837 LUC7L3 FAM117A FLJ45513 KAT7 ENSG00000250282 PDK2 SAMD14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM117A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM117A gene promoter:
  • c-Rel
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Evi-1
  • GATA-6
  • NRSF form 2

Genomic Locations for FAM117A Gene

Genomic Locations for FAM117A Gene
chr17:49,710,325-49,789,180
(GRCh38/hg38)
Size:
78,856 bases
Orientation:
Minus strand
chr17:47,787,687-47,866,542
(GRCh37/hg19)
Size:
78,856 bases
Orientation:
Minus strand

Genomic View for FAM117A Gene

Genes around FAM117A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM117A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM117A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM117A Gene

Proteins for FAM117A Gene

  • Protein details for FAM117A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C073-F117A_HUMAN
    Recommended name:
    Protein FAM117A
    Protein Accession:
    Q9C073
    Secondary Accessions:
    • B7Z7Q3

    Protein attributes for FAM117A Gene

    Size:
    453 amino acids
    Molecular mass:
    48319 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM117A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM117A Gene

Post-translational modifications for FAM117A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM117A Gene

Antibody Products

  • Boster Bio Antibodies for FAM117A
  • Santa Cruz Biotechnology (SCBT) Antibodies for FAM117A

No data available for DME Specific Peptides for FAM117A Gene

Domains & Families for FAM117A Gene

Gene Families for FAM117A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM117A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM117A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C073

UniProtKB/Swiss-Prot:

F117A_HUMAN :
  • Belongs to the FAM117 family.
Family:
  • Belongs to the FAM117 family.
genes like me logo Genes that share domains with FAM117A: view

Function for FAM117A Gene

Phenotypes From GWAS Catalog for FAM117A Gene

genes like me logo Genes that share phenotypes with FAM117A: view

Animal Model Products

miRNA for FAM117A Gene

miRTarBase miRNAs that target FAM117A

Clone 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 FAM117A Gene

Localization for FAM117A 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 FAM117A gene
Compartment Confidence
nucleus 3
mitochondrion 2
cytosol 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM117A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with FAM117A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM117A Gene

Pathways & Interactions for FAM117A Gene

SuperPathways for FAM117A Gene

No Data Available

Interacting Proteins for FAM117A Gene

Gene Ontology (GO) - Biological Process for FAM117A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM117A Gene

Drugs & Compounds for FAM117A Gene

No Compound Related Data Available

Transcripts for FAM117A Gene

mRNA/cDNA for FAM117A Gene

Unigene Clusters for FAM117A Gene

Family with sequence similarity 117, member A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM117A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - - - -
SP2: -
SP3: - -
SP4:
SP5: -
SP6: - - -

Relevant External Links for FAM117A Gene

GeneLoc Exon Structure for
FAM117A
ECgene alternative splicing isoforms for
FAM117A

Expression for FAM117A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM117A Gene

mRNA differential expression in normal tissues according to GTEx for FAM117A Gene

This gene is overexpressed in Whole Blood (x6.0).

Protein differential expression in normal tissues from HIPED for FAM117A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (31.3), CD8 Tcells (25.1), and Blymphocyte (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM117A Gene



Protein tissue co-expression partners for FAM117A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM117A Gene:

FAM117A

SOURCE GeneReport for Unigene cluster for FAM117A Gene:

Hs.514308
genes like me logo Genes that share expression patterns with FAM117A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM117A Gene

Orthologs for FAM117A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM117A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM117A 34 33
  • 99.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM117A 34 33
  • 91.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM117A 34 33
  • 90.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam117a 16 34 33
  • 86.64 (n)
rat
(Rattus norvegicus)
Mammalia Fam117a 33
  • 85.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM117A 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM117A 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM117A 34
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC101887152 33
  • 64.2 (n)
FAM117A (1 of 2) 34
  • 41 (a)
OneToMany
FAM117A (2 of 2) 34
  • 33 (a)
OneToMany
cdh1 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5186 34
  • 23 (a)
OneToMany
Species where no ortholog for FAM117A 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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)

Evolution for FAM117A Gene

ENSEMBL:
Gene Tree for FAM117A (if available)
TreeFam:
Gene Tree for FAM117A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM117A: view image

Paralogs for FAM117A Gene

Paralogs for FAM117A Gene

(1) SIMAP similar genes for FAM117A Gene using alignment to 5 proteins:

  • F117A_HUMAN
  • B7Z7Q3_HUMAN
  • D6RFX7_HUMAN
  • D6RJ87_HUMAN
  • K7ENS5_HUMAN
genes like me logo Genes that share paralogs with FAM117A: view

Variants for FAM117A Gene

Sequence variations from dbSNP and Humsavar for FAM117A Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000075035 -- 49,757,277(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000124338 -- 49,727,243(-) T/C intron_variant
rs1000163076 -- 49,715,211(-) AATAATAA/AATAA intron_variant
rs1000240856 -- 49,726,851(-) A/G intron_variant
rs1000284438 -- 49,761,617(-) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM117A Gene

Variant ID Type Subtype PubMed ID
dgv5682n54 CNV loss 21841781
dgv5683n54 CNV loss 21841781
dgv5684n54 CNV loss 21841781
esv23674 CNV loss 19812545
esv2660684 CNV deletion 23128226
esv3554519 CNV deletion 23714750
esv3582802 CNV loss 25503493
esv3640741 CNV loss 21293372
nsv111821 CNV deletion 16902084
nsv525469 CNV gain 19592680
nsv575503 CNV loss 21841781
nsv575504 CNV loss 21841781
nsv575505 CNV loss 21841781
nsv575506 CNV loss 21841781
nsv575510 CNV loss 21841781
nsv955406 CNV deletion 24416366

Variation tolerance for FAM117A Gene

Residual Variation Intolerance Score: 20.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM117A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM117A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM117A Gene

Disorders for FAM117A Gene

Additional Disease Information for FAM117A

No disorders were found for FAM117A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM117A Gene

Publications for FAM117A 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 58
  2. 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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for FAM117A Gene

Sources for FAM117A Gene

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