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Aliases for FAM172A Gene

Aliases for FAM172A Gene

  • Family With Sequence Similarity 172 Member A 2 3 5
  • C5orf21 3 4
  • Family With Sequence Similarity 172, Member A 2
  • Chromosome 5 Open Reading Frame 21 2
  • Protein FAM172A 3

External Ids for FAM172A Gene

Previous HGNC Symbols for FAM172A Gene

  • C5orf21

Previous GeneCards Identifiers for FAM172A Gene

  • GC05M092981

Summaries for FAM172A Gene

GeneCards Summary for FAM172A Gene

FAM172A (Family With Sequence Similarity 172 Member A) is a Protein Coding gene.

Gene Wiki entry for FAM172A Gene

Additional gene information for FAM172A 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 FAM172A Gene

Genomics for FAM172A Gene

GeneHancer (GH) Regulatory Elements for FAM172A Gene

Promoters and enhancers for FAM172A 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
GH05J094110 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.3 281 2.2 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF766 FAM172A GC05P094112 LOC105379087 ENSG00000251023
GH05J094359 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE dbSUPER 650.1 -249.9 -249911 3.9 USF1 NANOG MAX FOXA1 SP1 GATA3 CTBP1 POLR2A POU5F1 FOS FAM172A GC05P094313 MTND5P12 KIAA0825
GH05J093576 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 +528.6 528620 13.1 MLX FEZF1 YY1 ZNF213 ZNF416 ZNF143 ZNF548 SP3 NFYC ZFP41 NR2F1 NPM1P27 POU5F2 NR2F1-AS1 MIR2277 ENSG00000272406 FAM172A ENSG00000251023 PIR38533
GH05J093357 Enhancer 1.1 Ensembl ENCODE 12.8 +752.3 752326 3.3 FEZF1 RUNX3 RXRA YY2 TSHZ1 SMARCB1 ZNF518A MAFF ZNF610 ZNF624 FAM172A NR2F1-AS1 GC05P093406 POLD2P1
GH05J094891 Enhancer 0.9 UCNEbase 10.4 -780.3 -780311 0.2 PKNOX1 ZBTB21 ZNF140 ZNF266 ZNF697 ZNF213 ZNF433 ZNF202 ZNF680 ZNF189 ARSK FAM172A ENSG00000276514 ENSG00000249545 MCTP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM172A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM172A gene promoter:
  • STAT3
  • STAT1beta
  • STAT1alpha
  • STAT1
  • CP2
  • FOXJ2 (long isoform)
  • FOXJ2
  • p300
  • AREB6
  • PPAR-gamma2

Genomic Locations for FAM172A Gene

Genomic Locations for FAM172A Gene
493,975 bases
Minus strand
493,974 bases
Minus strand

Genomic View for FAM172A Gene

Genes around FAM172A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM172A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM172A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM172A Gene

Proteins for FAM172A Gene

  • Protein details for FAM172A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM172A
    Protein Accession:
    Secondary Accessions:
    • B2R7C6
    • B4DJ14
    • B4DLG5
    • Q9H0U8

    Protein attributes for FAM172A Gene

    416 amino acids
    Molecular mass:
    47972 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM172A Gene


neXtProt entry for FAM172A Gene

Post-translational modifications for FAM172A Gene

  • Ubiquitination at Lys333 and isoforms=235
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FAM172A Gene

Domains & Families for FAM172A Gene

Gene Families for FAM172A Gene

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

Protein Domains for FAM172A Gene


Suggested Antigen Peptide Sequences for FAM172A Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UPF0528 family.
  • Belongs to the UPF0528 family.
genes like me logo Genes that share domains with FAM172A: view

Function for FAM172A Gene

Phenotypes From GWAS Catalog for FAM172A Gene

Gene Ontology (GO) - Molecular Function for FAM172A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035197 CONTRIBUTES_TO siRNA binding IBA --
genes like me logo Genes that share ontologies with FAM172A: view
genes like me logo Genes that share phenotypes with FAM172A: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM172A Gene

Localization for FAM172A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM172A Gene


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 FAM172A gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 4
nucleus 3
cytosol 3
plasma membrane 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM172A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IBA --
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IBA --
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with FAM172A: view

Pathways & Interactions for FAM172A Gene

SuperPathways for FAM172A Gene

No Data Available

Interacting Proteins for FAM172A Gene

Gene Ontology (GO) - Biological Process for FAM172A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031047 gene silencing by RNA IBA --
GO:0031048 chromatin silencing by small RNA IBA --
genes like me logo Genes that share ontologies with FAM172A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM172A Gene

Drugs & Compounds for FAM172A Gene

No Compound Related Data Available

Transcripts for FAM172A Gene

Unigene Clusters for FAM172A Gene

Family with sequence similarity 172, member A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM172A Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -

Relevant External Links for FAM172A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM172A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM172A Gene

Protein differential expression in normal tissues from HIPED for FAM172A Gene

This gene is overexpressed in Adipocyte (12.1), Peripheral blood mononuclear cells (7.7), and Fetal testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM172A Gene

Protein tissue co-expression partners for FAM172A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM172A Gene:


SOURCE GeneReport for Unigene cluster for FAM172A Gene:


Evidence on tissue expression from TISSUES for FAM172A Gene

  • Nervous system(4.8)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with FAM172A: 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 FAM172A Gene

Orthologs for FAM172A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM172A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM172A 34 33
  • 99.68 (n)
(Canis familiaris)
Mammalia FAM172A 34 33
  • 95.06 (n)
(Bos Taurus)
Mammalia FAM172A 34 33
  • 94.34 (n)
(Monodelphis domestica)
Mammalia FAM172A 34
  • 90 (a)
(Mus musculus)
Mammalia Fam172a 16 34 33
  • 89.63 (n)
(Rattus norvegicus)
Mammalia Fam172a 33
  • 89.28 (n)
(Ornithorhynchus anatinus)
Mammalia FAM172A 34
  • 88 (a)
(Gallus gallus)
Aves FAM172A 34 33
  • 82.76 (n)
(Anolis carolinensis)
Reptilia FAM172A 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam172a 33
  • 76.58 (n)
(Danio rerio)
Actinopterygii fam172a 34 33
  • 69.19 (n)
zgc64188 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002541 33
  • 52.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10038 34 33
  • 47.07 (n)
(Caenorhabditis elegans)
Secernentea CELE_Y75B8A.31 33
  • 48.93 (n)
Y75B8A.31 34
  • 34 (a)
Species where no ortholog for FAM172A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)

Evolution for FAM172A Gene

Gene Tree for FAM172A (if available)
Gene Tree for FAM172A (if available)
Evolutionary constrained regions (ECRs) for FAM172A: view image

Paralogs for FAM172A Gene

(1) SIMAP similar genes for FAM172A Gene using alignment to 3 proteins:

  • F172A_HUMAN
  • E9PBM2_HUMAN Pseudogenes for FAM172A Gene

genes like me logo Genes that share paralogs with FAM172A: view

No data available for Paralogs for FAM172A Gene

Variants for FAM172A Gene

Sequence variations from dbSNP and Humsavar for FAM172A Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000010610 -- 93,972,771(-) G/A intron_variant
rs1000011429 -- 93,828,155(-) G/A/T genic_downstream_transcript_variant, intron_variant
rs1000012584 -- 93,822,595(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000019332 -- 93,852,330(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000025956 -- 93,749,363(-) T/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM172A Gene

Variant ID Type Subtype PubMed ID
dgv5717n100 CNV loss 25217958
dgv954n67 CNV gain 20364138
esv2664180 CNV deletion 23128226
esv2730466 CNV deletion 23290073
esv2730467 CNV deletion 23290073
esv2730468 CNV deletion 23290073
esv2730469 CNV deletion 23290073
esv3605808 CNV loss 21293372
esv3605809 CNV loss 21293372
esv3605810 CNV loss 21293372
esv3605811 CNV gain 21293372
esv3605814 CNV loss 21293372
nsv1030870 CNV loss 25217958
nsv1033466 CNV loss 25217958
nsv823133 CNV loss 20364138
nsv830404 CNV loss 17160897
nsv830405 CNV loss 17160897
nsv950107 CNV duplication 24416366
nsv964905 CNV duplication 23825009

Variation tolerance for FAM172A Gene

Residual Variation Intolerance Score: 22.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.07; 50.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM172A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM172A Gene

Disorders for FAM172A Gene

Additional Disease Information for FAM172A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FAM172A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM172A Gene

Publications for FAM172A Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  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 44 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Detection of FAM172A expressed in circulating tumor cells is a feasible method to predict high-risk subgroups of colorectal cancer. (PMID: 28618931) Cui CH … Yu JL (Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2017) 3 58
  5. miR‑27a promotes proliferation, migration, and invasion of colorectal cancer by targeting FAM172A and acts as a diagnostic and prognostic biomarker. (PMID: 28440497) Liu W … Liu H (Oncology reports 2017) 3 58

Products for FAM172A Gene

Sources for FAM172A Gene

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