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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

Regulatory Elements for FAM172A Gene

Enhancers for FAM172A 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
GH05H093576 1.8 FANTOM5 ENCODE dbSUPER 10.4 +530.1 530084 10 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF302 NPM1P27 POU5F2 NR2F1-AS1 MIR2277 ENSG00000272406 FAM172A ENSG00000251023 NR2F1 PIR38533
GH05H093357 1.2 Ensembl ENCODE 12.8 +752.3 752326 3 FEZF1 RAD21 RFX5 ZNF366 ZSCAN5C SCRT2 RUNX3 YY2 CEBPB OVOL3 FAM172A NR2F1-AS1 GC05P093406 POLD2P1
GH05H094422 1.2 FANTOM5 Ensembl ENCODE 3.5 -311.1 -311089 0 STAT1 JUN ZNF398 EP300 JUND POLR2A STAT3 FOS PRDM1 KIAA0825 FAM172A GC05P094313 MTND5P12
GH05H093512 0.5 ENCODE 4.5 +598.6 598601 1 ZNF146 JUN ZNF580 FAM172A PIR38533 GC05P093476
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM172A on UCSC Golden Path with GeneCards custom track

Promoters for FAM172A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000184093 199 1800 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 ZNF143

Genomic Location for FAM172A Gene

93,617,725 bp from pter
94,111,699 bp from pter
493,975 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 posLast=3535 and isoforms=3, 4333
  • 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 for FAM172A Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM172A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , 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:0005576 extracellular region IEA --
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


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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM172A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 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 33 34
  • 99.68 (n)
(Canis familiaris)
Mammalia FAM172A 33 34
  • 95.06 (n)
(Bos Taurus)
Mammalia FAM172A 33 34
  • 94.34 (n)
(Monodelphis domestica)
Mammalia FAM172A 34
  • 90 (a)
(Mus musculus)
Mammalia Fam172a 33 16 34
  • 89.63 (n)
(Rattus norvegicus)
Mammalia Fam172a 33
  • 89.28 (n)
(Ornithorhynchus anatinus)
Mammalia FAM172A 34
  • 88 (a)
(Gallus gallus)
Aves FAM172A 33 34
  • 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 33 34
  • 69.19 (n)
zgc64188 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002541 33
  • 52.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10038 33 34
  • 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)

Paralogs for FAM172A Gene

(1) SIMAP similar genes for FAM172A Gene using alignment to 3 proteins: 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 Sequence Context AA Info Type
rs1000010610 -- 93,972,771(+) TTCTG(A/G)TATTG intron-variant
rs1000011429 -- 93,828,155(+) GGGAT(G/T)GCATT intron-variant
rs1000012584 -- 93,822,595(+) AAAAA(C/T)AAGCT intron-variant
rs1000019332 -- 93,852,330(+) TTGGA(A/G)TTCAT intron-variant
rs1000025956 -- 93,749,363(+) GTTTG(A/T)TCTTA 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)

Relevant External Links 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

Relevant External Links for FAM172A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 60
  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 45 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  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 60
  5. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 60

Products for FAM172A Gene

Sources for FAM172A Gene

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