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Aliases for FAM57A Gene

Aliases for FAM57A Gene

  • Family With Sequence Similarity 57 Member A 2 3 5
  • Membrane Protein Expressed In Epithelial-Like Lung Adenocarcinoma 3
  • Family With Sequence Similarity 57, Member A 2
  • Protein FAM57A 3
  • Protein CT120 4
  • CT120 3

External Ids for FAM57A Gene

Previous GeneCards Identifiers for FAM57A Gene

  • GC17P000583
  • GC17P000635

Summaries for FAM57A Gene

Entrez Gene Summary for FAM57A Gene

  • The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for FAM57A Gene

FAM57A (Family With Sequence Similarity 57 Member A) is a Protein Coding gene. An important paralog of this gene is FAM57B.

Additional gene information for FAM57A Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM57A Gene

Genomics for FAM57A Gene

GeneHancer (GH) Regulatory Elements for FAM57A Gene

Promoters and enhancers for FAM57A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I000728 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 600.3 -1.3 -1271 6 ARID4B SIN3A GLI4 ZNF48 ZNF121 GLIS2 ZNF213 ZNF207 KLF7 FOS FAM57A GC17M000727 VPS53 MRM3 GEMIN4
GH17I000750 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 22.5 +19.9 19915 3.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B GEMIN4 DBIL5P PIR42448 PRPF8 FAM57A MRM3 WDR81 GLOD4 VPS53 ENSG00000262920
GH17I000689 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 23.8 -39.4 -39409 7.2 SIN3A RFX5 SCRT2 FOS RCOR1 DEK CEBPB NR2F2 SP1 ZFP69B VPS53 FAM57A C17orf97 RFLNB DOC2B TIMM22 GEMIN4 ENSG00000263015 GC17M000676 GC17P000714
GH17I000713 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.5 -16.9 -16856 3.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B VPS53 GC17P000714 FAM57A DBIL5P TIMM22 GLOD4 NXN GEMIN4
GH17I000348 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 -380.3 -380345 6.8 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 RPH3AL ENSG00000262294 GEMIN4 NXN FAM57A LOC100506388 ENSG00000262558 LOC105371432 LOC105371425 GC17M000276
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM57A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM57A gene promoter:

Genomic Locations for FAM57A Gene

Genomic Locations for FAM57A Gene
10,561 bases
Plus strand

Genomic View for FAM57A Gene

Genes around FAM57A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM57A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM57A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM57A Gene

Proteins for FAM57A Gene

  • Protein details for FAM57A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM57A
    Protein Accession:
    Secondary Accessions:
    • A8K7Q0
    • Q7Z464
    • Q96D97
    • Q9H6H3

    Protein attributes for FAM57A Gene

    257 amino acids
    Molecular mass:
    29383 Da
    Quaternary structure:
    • Interacts with GGT7 isoform 3 and SLC3A2.

    Alternative splice isoforms for FAM57A Gene


neXtProt entry for FAM57A Gene

Post-translational modifications for FAM57A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM57A Gene

Domains & Families for FAM57A Gene

Gene Families for FAM57A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for FAM57A Gene


Suggested Antigen Peptide Sequences for FAM57A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FAM57A: view

No data available for UniProtKB/Swiss-Prot for FAM57A Gene

Function for FAM57A Gene

Phenotypes From GWAS Catalog for FAM57A Gene

Gene Ontology (GO) - Molecular Function for FAM57A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12270127
genes like me logo Genes that share ontologies with FAM57A: view

Phenotypes for FAM57A Gene

genes like me logo Genes that share phenotypes with FAM57A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM57A Gene

Localization for FAM57A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM57A Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

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 FAM57A gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for FAM57A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IEA 12270127
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM57A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM57A Gene

Pathways & Interactions for FAM57A Gene

SuperPathways for FAM57A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM57A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FAM57A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM57A Gene

Drugs & Compounds for FAM57A Gene

No Compound Related Data Available

Transcripts for FAM57A Gene

Unigene Clusters for FAM57A Gene

Family with sequence similarity 57, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM57A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e
SP2: -
SP4: - -
SP5: -

Relevant External Links for FAM57A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM57A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM57A Gene

mRNA differential expression in normal tissues according to GTEx for FAM57A Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x6.8) and Skin - Sun Exposed (Lower leg) (x6.1).

Protein differential expression in normal tissues from HIPED for FAM57A Gene

This gene is overexpressed in Adipocyte (25.2), Pancreas (13.1), Fetal gut (12.9), Fetal heart (11.3), and Colon (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAM57A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM57A Gene:


SOURCE GeneReport for Unigene cluster for FAM57A Gene:


mRNA Expression by UniProt/SwissProt for FAM57A Gene:

Tissue specificity: Highly expressed in pancreas. Detected at intermediate levels in heart, placenta and kidney, and at low levels in brain, liver and skeletal muscle. Not detected in normal lung.

Evidence on tissue expression from TISSUES for FAM57A Gene

  • Lung(4.3)
  • Stomach(4.2)
genes like me logo Genes that share expression patterns with FAM57A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM57A Gene

Orthologs for FAM57A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM57A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM57A 33 34
  • 98.1 (n)
(Canis familiaris)
Mammalia FAM57A 33 34
  • 88.72 (n)
(Bos Taurus)
Mammalia FAM57A 33
  • 84.82 (n)
MGC155170 34
  • 79 (a)
(Rattus norvegicus)
Mammalia Fam57a 33
  • 83.53 (n)
(Mus musculus)
Mammalia Fam57a 33 16 34
  • 81.58 (n)
(Monodelphis domestica)
Mammalia FAM57A 34
  • 66 (a)
(Ornithorhynchus anatinus)
Mammalia FAM57A 34
  • 66 (a)
(Gallus gallus)
Aves FAM57A 33 34
  • 68.36 (n)
(Anolis carolinensis)
Reptilia FAM57A 34
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam57a 33
  • 59.24 (n)
Str.20213 33
fruit fly
(Drosophila melanogaster)
Insecta CG17841 34
  • 16 (a)
Species where no ortholog for FAM57A 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)
  • 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)
  • zebrafish (Danio rerio)

Evolution for FAM57A Gene

Gene Tree for FAM57A (if available)
Gene Tree for FAM57A (if available)

Paralogs for FAM57A Gene

Paralogs for FAM57A Gene

(1) SIMAP similar genes for FAM57A Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FAM57A: view

Variants for FAM57A Gene

Sequence variations from dbSNP and Humsavar for FAM57A Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000483739 -- 741,112(+) G/A intron_variant
rs1000551116 -- 731,339(+) G/A upstream_transcript_variant
rs1000767316 -- 740,247(+) C/T intron_variant
rs1000828676 -- 740,180(+) C/T intron_variant
rs1000879661 -- 739,915(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM57A Gene

Variant ID Type Subtype PubMed ID
dgv1397n106 CNV deletion 24896259
dgv3071n100 CNV gain 25217958
dgv3072n100 CNV gain 25217958
dgv3074n100 CNV gain 25217958
dgv5386n54 CNV gain 21841781
dgv5387n54 CNV loss 21841781
dgv5389n54 CNV gain 21841781
esv24125 CNV loss 19812545
esv2422420 CNV duplication 17116639
esv2758673 CNV gain 17122850
esv3639625 CNV gain 21293372
esv3639636 CNV gain 21293372
esv3639637 CNV loss 21293372
esv3892944 CNV gain 25118596
nsv1057000 CNV gain 25217958
nsv1063272 CNV gain 25217958
nsv1064955 CNV gain 25217958
nsv457627 CNV gain 19166990
nsv457631 CNV gain 19166990
nsv469891 CNV loss 16826518
nsv573948 CNV gain 21841781
nsv574075 CNV loss 21841781
nsv574090 CNV gain 21841781

Variation tolerance for FAM57A Gene

Residual Variation Intolerance Score: 62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM57A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM57A Gene

Disorders for FAM57A Gene

Additional Disease Information for FAM57A

No disorders were found for FAM57A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM57A Gene

Publications for FAM57A Gene

  1. Molecular cloning and characterization of CT120, a novel membrane-associated gene involved in amino acid transport and glutathione metabolism. (PMID: 12270127) He X … Gu J (Biochemical and biophysical research communications 2002) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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
  4. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles RA … Easton DF (Nature genetics 2013) 3 58
  5. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M … Gstaiger M (Cell reports 2013) 3 58

Products for FAM57A Gene

Sources for FAM57A Gene

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