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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FAM72A Gene

protein-coding   GIFtS: 38
GCID: GC01P206136          (predicted)

Family With Sequence Similarity 72, Member A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Family With Sequence Similarity 72, Member A1 2     Ugene2
Latent Membrane Protein 1-Induced Protein2 3     Protein FAM72A2
LMPIP2 3     UGENE3
LMP1-Induced Protein2 3     

External Ids:    HGNC: 240441   Entrez Gene: 7295332   Ensembl: ENSG000001965507   OMIM: 6147105   UniProtKB: Q5TYM53   

Export aliases for FAM72A gene to outside databases

Previous GC identifers: GC01P120553 GC01P7M0094 GC01P204300


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FAM72A Gene: 
FAM72A (family with sequence similarity 72, member A) is a protein-coding gene. Diseases associated with FAM72A include adenoma, and colon cancer. An important paralog of this gene is FAM72C.

UniProtKB/Swiss-Prot: FA72A_HUMAN, Q5TYM5
Function: May play a role in the regulation of cellular reactive oxygen species metabolism. May participate in
cell growth regulation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_086602.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM72A gene promoter:
         AREB6   Sox5   GCNF-1   GCNF   Nkx2-2   FOXO4   MyoD   GCNF-2   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM72A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM72A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

FAM72A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM72A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P206136:  view genomic region     (about GC identifiers)

Start:
206,136,916 bp from pter      End:
206,155,151 bp from pter
Size:
18,236 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FA72A_HUMAN, Q5TYM5 (See protein sequence)
Recommended Name: Protein FAM72A  
Size: 149 amino acids; 16619 Da
Subunit: Interacts with UNG
Subcellular location: 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)
Miscellaneous: Highly homologous to GCUD2 but localized to a distinct locus
Secondary accessions: B2RV15 Q5TYM4
Alternative splicing: 2 isoforms:  Q5TYM5-1   Q5TYM5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM72A: NX_Q5TYM5

Explore proteomics data for FAM72A at MOPED 

FAM72A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

FAM72A Protein Expression

REFSEQ proteins: NP_001116640.1  
ENSEMBL proteins: 
 ENSP00000476019   ENSP00000356097   ENSP00000356096   ENSP00000475292   ENSP00000340661  
 ENSP00000475410  

Human Recombinant Protein Products for FAM72A: 
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IEA--

FAM72A for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR026768 FAM72

Graphical View of Domain Structure for InterPro Entry Q5TYM5

ProtoNet protein and cluster: Q5TYM5

UniProtKB/Swiss-Prot: FA72A_HUMAN, Q5TYM5
Similarity: Belongs to the FAM72 family


FAM72A for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: FA72A_HUMAN, Q5TYM5
Function: May play a role in the regulation of cellular reactive oxygen species metabolism. May participate in
cell growth regulation
Induction: Up-regulated in peripheral blood mononuclear cells following Epstein-Barr virus (EBV) infection or
following transfection with EBV LMP1 protein

Animal Models:

   inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM72A 
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Inhib. RNA
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Gene Editing
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GenScript: all cDNA clones in your preferred vector: FAM72A (NM_001123168)
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM72A


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM72A

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/12 Interacting proteins for FAM72A (ENSP000003560964) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
InteractantInteraction Details
GeneCardExternal ID(s)
CACHD1ENSP000002900394STRING: ENSP00000290039
CERS2ENSP000002716884STRING: ENSP00000271688
ECM1ENSP000003580434STRING: ENSP00000358043
ENSG00000206492ENSP000003730904STRING: ENSP00000373090
ENSG00000206500ENSP000003731064STRING: ENSP00000373106
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FAM72A (FA72A)

Search CenterWatch for drugs/clinical trials and news about FAM72A / FA72A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FAM72A gene: 
NM_001123168.1  

Unigene Cluster for FAM72A:

Family with sequence similarity 72, member A
Hs.661924  [show with all ESTs]
Unigene Representative Sequence: BC035696
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000470041 ENST00000468509 ENST00000367129 ENST00000367128(uc001hdr.4)
ENST00000481737 ENST00000431655 ENST00000341209 ENST00000607379
miRNA
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8 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM72A:
hsa-miR-640 hsa-miR-3688-3p hsa-miR-622 hsa-miR-3065-5p hsa-miR-551b* hsa-miR-548aa hsa-miR-3658 hsa-miR-590-3p
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for FAM72A
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM72A
Clone
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OriGene clones in human, mouse for FAM72A (see all 6)
OriGene ORF clones in mouse, rat for FAM72A
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: FAM72A (NM_001123168)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM72A
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM72A
Sirion Biotech Customized lentivirus for stable overexpression of FAM72A 
                     Customized lentivirus expression plasmids for stable overexpression of FAM72A 
Primer
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM72A

Additional mRNA sequence: 

BC035696.1 BC137545.1 BC146978.1 BC146992.1 DQ786198.1 

6 DOTS entries:

DT.99970592  DT.91982635  DT.98081773  DT.305991  DT.100737737  DT.121450097 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for FAM72A    About this scheme

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


ECgene alternative splicing isoforms for FAM72A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FAM72A expression in normal human tissues (normalized intensities)      FAM72A embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATGTTAGATA
FAM72A Expression
About this image


FAM72A expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/2 selected tissues (see all 2) fully expand
 
 Eye (Sensory Organs)
         Mature Horizontal Cells Inner Nuclear Layer
 
 Testis (Reproductive System)

See FAM72A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM72A

SOURCE GeneReport for Unigene cluster: Hs.661924

UniProtKB/Swiss-Prot: FA72A_HUMAN, Q5TYM5
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

    SABiosciences Custom PCR Arrays for FAM72A
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM72A
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM72A

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for FAM72A gene from 4/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fam72a1 , 5 family with sequence similarity 72, member A1, 5 90.16(n)1
89.93(a)1
  1 (56.99 cM)5
1089001  NM_175382.31  NP_780591.11 
 1315279035 
chicken
(Gallus gallus)
Aves FAM72A1 family with sequence similarity 72, member A 74.27(n)
76.51(a)
  419841  XM_417970.3  XP_417970.2 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
76(a)
1 → many
GL343228.1(1047981-1078730)
zebrafish
(Danio rerio)
Actinopterygii zgc:1015641 zgc:101564 66.67(n)
66.67(a)
  541418  NM_001013545.1  NP_001013563.1 


ENSEMBL Gene Tree for FAM72A (if available)
TreeFam Gene Tree for FAM72A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for FAM72A gene
FAM72C2  FAM72D2  FAM72B2  
3 SIMAP similar genes for FAM72A using alignment to 2 protein entries:     FA72A_HUMAN (see all proteins):
FAM72B    FAM72D    FAM72C

FAM72A for paralogs           About GeneDecksing


2 Pseudogenes.org Pseudogenes for FAM72A
PGOHUM00000259477 PGOHUM00000244877


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/54 SNPs in FAM72A are shown (see all 54)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1148563501,2
C,F--206142676(+) TAATCT/CTTTGA 1 -- int11Minor allele frequency- C:0.05WA 118
rs1178869751,2
F--206142687(+) GTAGAC/TGTGTT 1 -- int11Minor allele frequency- T:0.02EA 120
rs1461215701,2
--206142688(+) TAGACA/GTGTTA 1 -- int10--------
rs2017556881,2
--206142951(+) CTTTC-/TTTTCT
        
TTTTT
1 -- cds10--------
rs1810028661,2
--206142972(+) AAGACA/GGAGTT 1 -- int10--------
rs1858375021,2
--206142977(+) GGAGTC/TTTGCT 1 -- int10--------
rs3760304531,2
C--206145209(+) GTCTC-/AATAATAA 2 -- int1 cds10--------
rs2007078141,2
C--206145248(+) GAAATA/GTGAGA 1 -- int10--------
rs2021643391,2
F--206145436(+) GTAACA/GTTTAC 1 -- int11Minor allele frequency- G:0.06EU 1324
rs1893821331,2
--206149436(+) GGAGGA/CCAAGA 1 -- int10--------

HapMap Linkage Disequilibrium report for FAM72A (206136916 - 206155151 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for FAM72A:    About this table     
Variant IDTypeSubtypePubMed ID
esv26345CNV Gain+Loss19812545

SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 614710    OMIM disorders: --

2 diseases for FAM72A:    About MalaCards
adenoma    colon cancer


FAM72A for disorders           About GeneDecksing


Export disorders for FAM72A gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for FAM72A gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM72A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Functional interaction of Ugene and EBV infection med iates tumorigenic effects. (PubMed id 21317926)1, 2 Wang L.T....Hsu S.H. (2011)
  2. Ugene, a newly identified protein that is commonly overexpressed in cancer and binds uracil DNA glycosylase. (PubMed id 18676834)1, 2 Guo C....Markowitz S.D. (2008)
  3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
  6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
  7. Identification and characterisation of the novel amyl oid-beta peptide-induced protein p17. (PubMed id 19755123)1 Nehar S....Heese K. (2009)
  8. Lineage-specific gene duplication and loss in human and great ape evolution. (PubMed id 15252450)1 Fortna A....Sikela J.M. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 729533 HGNC: 24044 Ensembl:ENSG00000196550 euGenes: HUgn729533 ECgene: FAM72A
H-InvDB: FAM72A

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for FAM72A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for FAM72A gene:
Search GeneIP for patents involving FAM72A

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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