Aliases for FAM72A Gene

Aliases for FAM72A Gene

  • Family With Sequence Similarity 72 Member A 2 3 5
  • LMP1-Induced Protein 2 3 4
  • Latent Membrane Protein 1-Induced Protein 3 4
  • Protein FAM72A 3 4
  • LMPIP 3 4
  • Family With Sequence Similarity 72, Member A 2
  • Ugene 3
  • UGENE 4
  • P17 3

External Ids for FAM72A Gene

Previous GeneCards Identifiers for FAM72A Gene

  • GC01P120553
  • GC01P7M0094
  • GC01P204300
  • GC01P206136

Summaries for FAM72A Gene

GeneCards Summary for FAM72A Gene

FAM72A (Family With Sequence Similarity 72 Member A) is a Protein Coding gene. Diseases associated with FAM72A include Acrocapitofemoral Dysplasia and Noonan Syndrome 2. An important paralog of this gene is FAM72B.

UniProtKB/Swiss-Prot Summary for FAM72A Gene

  • May play a role in the regulation of cellular reactive oxygen species metabolism. May participate in cell growth regulation.

Additional gene information for FAM72A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM72A Gene

Genomics for FAM72A Gene

GeneHancer (GH) Regulatory Elements for FAM72A Gene

Promoters and enhancers for FAM72A 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
GH01J206201 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.5 -482 8.4 ZNF217 SP1 CLOCK FOS ZBTB26 TARDBP RFX1 CHD1 CTBP1 ZNF341 FAM72A lnc-AVPR1B-1 SRGAP2 lnc-FAM72A-3 lnc-RHEX-3 lnc-RHEX-4
GH01J206209 Promoter 0.3 Ensembl 0.7 -5.0 -4982 0.2 FAM72A SRGAP2 lnc-RHEX-4
GH01J206197 Enhancer 0.3 Ensembl 0.4 +7.8 7818 0.2 ZNF664 RF00994-083 FAM72A SRGAP2 lnc-FAM72A-3
GH01J206200 Enhancer 0.2 Ensembl 0.7 +4.6 4618 0.6 FAM72A SRGAP2 lnc-FAM72A-3 RF00994-083
GH01J206196 Enhancer 0.2 Ensembl 0.4 +8.2 8218 0.2 RF00994-083 FAM72A SRGAP2 lnc-FAM72A-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM72A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM72A

Top Transcription factor binding sites by QIAGEN in the FAM72A gene promoter:
  • AREB6
  • CBF(2)
  • FOXO4
  • GCNF
  • GCNF-1
  • GCNF-2
  • MyoD
  • Nkx2-2
  • Sox5

Genomic Locations for FAM72A Gene

Genomic Locations for FAM72A Gene
chr1:206,186,179-206,204,919
(GRCh38/hg38)
Size:
18,741 bases
Orientation:
Minus strand
chr1:206,136,916-206,155,151
(GRCh37/hg19)
Size:
18,236 bases
Orientation:
Plus strand

Genomic View for FAM72A Gene

Genes around FAM72A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM72A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM72A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM72A Gene

Proteins for FAM72A Gene

  • Protein details for FAM72A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TYM5-FA72A_HUMAN
    Recommended name:
    Protein FAM72A
    Protein Accession:
    Q5TYM5
    Secondary Accessions:
    • B2RV15
    • Q5TYM4

    Protein attributes for FAM72A Gene

    Size:
    149 amino acids
    Molecular mass:
    16619 Da
    Quaternary structure:
    • Interacts with UNG.
    Miscellaneous:
    • Highly homologous to GCUD2 but localized to a distinct locus.

    Alternative splice isoforms for FAM72A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM72A Gene

Post-translational modifications for FAM72A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM72A Gene

Domains & Families for FAM72A Gene

Gene Families for FAM72A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM72A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM72A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM72A (FA72A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5TYM5

UniProtKB/Swiss-Prot:

FA72A_HUMAN :
  • Belongs to the FAM72 family.
Family:
  • Belongs to the FAM72 family.
genes like me logo Genes that share domains with FAM72A: view

Function for FAM72A Gene

Molecular function for FAM72A Gene

UniProtKB/Swiss-Prot Function:
May play a role in the regulation of cellular reactive oxygen species metabolism. May participate in cell growth regulation.
UniProtKB/Swiss-Prot Induction:
Up-regulated in peripheral blood mononuclear cells following Epstein-Barr virus (EBV) infection or following transfection with EBV LMP1 protein.

Gene Ontology (GO) - Molecular Function for FAM72A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM72A: view

Phenotypes for FAM72A Gene

genes like me logo Genes that share phenotypes with FAM72A: view

Animal Models for FAM72A Gene

MGI Knock Outs for FAM72A:
  • Fam72a Fam72a<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for FAM72A Gene

miRTarBase miRNAs that target FAM72A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM72A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM72A Gene

Localization for FAM72A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM72A Gene

Cytoplasm. Mitochondrion. Note=A V5 epitope-tagged construct has been shown to localize to the nucleus (PubMed:18676834). 5-7% of total FAM72A is associated with mitochondria around the nucleus in HEK293 cells (PubMed:21317926). {ECO:0000269 PubMed:18676834, ECO:0000269 PubMed:21317926}.

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 FAM72A gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM72A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA,IBA --
GO:0016020 membrane IBA 21873635
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with FAM72A: view

Pathways & Interactions for FAM72A Gene

PathCards logo

SuperPathways for FAM72A Gene

No Data Available

Interacting Proteins for FAM72A Gene

STRING Interaction Network Preview (showing top 3 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q5TYM5-FA72A_HUMAN ENSP00000356096 for FAM72A Gene via UniProtKB STRING IID

;

Gene Ontology (GO) - Biological Process for FAM72A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM72A Gene

Drugs & Compounds for FAM72A Gene

No Compound Related Data Available

Transcripts for FAM72A Gene

mRNA/cDNA for FAM72A Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM72A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM72A Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - - - - -
SP2:
SP3: -
SP4: -

Relevant External Links for FAM72A Gene

GeneLoc Exon Structure for
FAM72A

Expression for FAM72A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM72A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM72A Gene

This gene is overexpressed in Kidney (35.0) and Colon (34.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM72A Gene



Protein tissue co-expression partners for FAM72A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM72A

SOURCE GeneReport for Unigene cluster for FAM72A Gene:

Hs.661924

mRNA Expression by UniProt/SwissProt for FAM72A Gene:

Q5TYM5-FA72A_HUMAN
Tissue specificity: May be up-regulated in malignant colon cancers, compared to normal colon and colon adenomas. Expression is also elevated in other common cancer types, including breast, lung, uterus, and ovary.

Evidence on tissue expression from TISSUES for FAM72A Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with FAM72A: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM72A Gene

Orthologs for FAM72A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM72A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 100 (a)
OneToMany
FAM72A 30
  • 100 (n)
cow
(Bos Taurus)
Mammalia FAM72A 31 30
  • 94.63 (n)
OneToMany
dog
(Canis familiaris)
Mammalia FAM72A 30
  • 92.62 (n)
-- 31
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fam72a 17 31 30
  • 90.16 (n)
rat
(Rattus norvegicus)
Mammalia Fam72a 30
  • 89.04 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM72A 30
  • 74.27 (n)
-- 31
  • 74 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fam72a 30
  • 64.35 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:101564 30
  • 66.67 (n)
FAM72B 31
  • 63 (a)
OneToMany
Species where no ortholog for FAM72A 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)
  • 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)

Evolution for FAM72A Gene

ENSEMBL:
Gene Tree for FAM72A (if available)
TreeFam:
Gene Tree for FAM72A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM72A: view image

Paralogs for FAM72A Gene

Paralogs for FAM72A Gene

(3) SIMAP similar genes for FAM72A Gene using alignment to 5 proteins:

  • FA72A_HUMAN
  • Q5TYM6_HUMAN
  • U3KPW2_HUMAN
  • U3KQ03_HUMAN
  • U3KQM2_HUMAN

Pseudogenes.org Pseudogenes for FAM72A Gene

genes like me logo Genes that share paralogs with FAM72A: view

Variants for FAM72A Gene

Additional dbSNP identifiers (rs#s) for FAM72A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM72A Gene

Variant ID Type Subtype PubMed ID
esv26345 CNV gain+loss 19812545
nsv1115377 CNV duplication 24896259
nsv1148900 CNV duplication 26484159
nsv946611 CNV duplication 23825009

Variation tolerance for FAM72A Gene

Gene Damage Index Score: 0.01; 0.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM72A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM72A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM72A Gene

Disorders for FAM72A Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM72A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM72A

genes like me logo Genes that share disorders with FAM72A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM72A Gene

Publications for FAM72A Gene

  1. Functional interaction of Ugene and EBV infection mediates tumorigenic effects. (PMID: 21317926) Wang LT … Hsu SH (Oncogene 2011) 2 3 4 54
  2. Ugene, a newly identified protein that is commonly overexpressed in cancer and binds uracil DNA glycosylase. (PMID: 18676834) Guo C … Markowitz SD (Cancer research 2008) 2 3 4 54
  3. A Novel Divergent Gene Transcription Paradigm-the Decisive, Brain-Specific, Neural |-Srgap2-Fam72a-| Master Gene Paradigm. (PMID: 30685845) Ho NTT … Heese K (Molecular neurobiology 2019) 2 3 54
  4. All-or-(N)One - an epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci. (PMID: 26206078) Kutzner A … Heese K (Genomics 2015) 2 3 54
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54

Products for FAM72A Gene

Sources for FAM72A Gene