Human Gene FAM172A (uc010jbd.3) Description and Page Index
  Description: Homo sapiens family with sequence similarity 172, member A (FAM172A), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr5:92,953,431-93,447,404 Size: 493,974 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr5:92,956,693-93,410,456 Size: 453,764 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:92,953,431-93,447,404)mRNA (may differ from genome)Protein (416 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: F172A_HUMAN
DESCRIPTION: RecName: Full=Protein FAM172A; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted (Potential).
SIMILARITY: Belongs to the UPF0528 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FAM172A
CDC HuGE Published Literature: FAM172A
Positive Disease Associations: Body Mass Index , Body Weight , Respiratory Function Tests
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Body Weight
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  3. Respiratory Function Tests
    Jemma B Wilk et al. BMC medical genetics 2007, Framingham Heart Study genome-wide association: results for pulmonary function measures., BMC medical genetics. [PubMed 17903307]
    GSTO2 and IL6R are credible candidate genes for association to pulmonary function identified by GWA. These and other observed associations warrant replication studies. This resource of GWA results for pulmonary function measures is publicly available at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.24 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 288.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.60207-0.399 Picture PostScript Text
3' UTR -868.373262-0.266 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019154 - Arb2_domain

Pfam Domains:
PF09757 - Arb2 domain

ModBase Predicted Comparative 3D Structure on Q8WUF8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum


-  Descriptions from all associated GenBank mRNAs
  BC020584 - Homo sapiens family with sequence similarity 172, member A, mRNA (cDNA clone MGC:21999 IMAGE:4398813), complete cds.
AK295879 - Homo sapiens cDNA FLJ50546 complete cds.
AK296683 - Homo sapiens cDNA FLJ50563 complete cds.
AK297471 - Homo sapiens cDNA FLJ51952 complete cds.
AK296986 - Homo sapiens cDNA FLJ52596 complete cds.
KJ894920 - Synthetic construct Homo sapiens clone ccsbBroadEn_04314 FAM172A gene, encodes complete protein.
AK312930 - Homo sapiens cDNA, FLJ93381.
AB528837 - Synthetic construct DNA, clone: pF1KE0463, Homo sapiens FAM172A gene for family with sequence similarity 172, member A, without stop codon, in Flexi system.
AM392775 - Synthetic construct Homo sapiens clone IMAGE:100002418 for hypothetical protein (C5orf21 gene).
AM392882 - Synthetic construct Homo sapiens clone IMAGE:100002419 for hypothetical protein (C5orf21 gene).
AK295127 - Homo sapiens cDNA FLJ52590 complete cds.
AL136630 - Homo sapiens mRNA; cDNA DKFZp564D172 (from clone DKFZp564D172).
CU688688 - Synthetic construct Homo sapiens gateway clone IMAGE:100018794 5' read POU5F2 mRNA.
AF070617 - Homo sapiens clone 24812 mRNA sequence.
JD434825 - Sequence 415849 from Patent EP1572962.
JD508252 - Sequence 489276 from Patent EP1572962.
LF332044 - JP 2014500723-A/139547: Polycomb-Associated Non-Coding RNAs.
JD307758 - Sequence 288782 from Patent EP1572962.
JD503037 - Sequence 484061 from Patent EP1572962.
JD154730 - Sequence 135754 from Patent EP1572962.
JD402230 - Sequence 383254 from Patent EP1572962.
JD549808 - Sequence 530832 from Patent EP1572962.
JD545602 - Sequence 526626 from Patent EP1572962.
JD225852 - Sequence 206876 from Patent EP1572962.
JD122990 - Sequence 104014 from Patent EP1572962.
JD490627 - Sequence 471651 from Patent EP1572962.
JD208504 - Sequence 189528 from Patent EP1572962.
JD289422 - Sequence 270446 from Patent EP1572962.
JD233509 - Sequence 214533 from Patent EP1572962.
BC012007 - Homo sapiens chromosome 5 open reading frame 21, mRNA (cDNA clone IMAGE:4539013), with apparent retained intron.
JD360268 - Sequence 341292 from Patent EP1572962.
JD126380 - Sequence 107404 from Patent EP1572962.
JD042944 - Sequence 23968 from Patent EP1572962.
JD561545 - Sequence 542569 from Patent EP1572962.
JD290618 - Sequence 271642 from Patent EP1572962.
JD362638 - Sequence 343662 from Patent EP1572962.
JD096962 - Sequence 77986 from Patent EP1572962.
AK309742 - Homo sapiens cDNA, FLJ99783.
JD198874 - Sequence 179898 from Patent EP1572962.
JD093209 - Sequence 74233 from Patent EP1572962.
JD038542 - Sequence 19566 from Patent EP1572962.
JD500115 - Sequence 481139 from Patent EP1572962.
JD407368 - Sequence 388392 from Patent EP1572962.
JD530417 - Sequence 511441 from Patent EP1572962.
JD404515 - Sequence 385539 from Patent EP1572962.
JD336508 - Sequence 317532 from Patent EP1572962.
HZ408964 - JP 2015528002-A/1561: CHIRAL CONTROL.
LG052298 - KR 1020150036642-A/1564: CHIRAL CONTROL.
DL491249 - Novel nucleic acids.
HI965656 - Sequence 941 from Patent WO2010139812.
JA401694 - Sequence 941 from Patent WO2011080318.
JA402672 - Sequence 941 from Patent WO2011080315.
JA403679 - Sequence 941 from Patent WO2011080316.
JA406310 - Sequence 941 from Patent EP2336353.
JA429836 - Sequence 941 from Patent WO2011095623.
MS834795 - Sequence 941 from Patent EP3112479.
DL489895 - Novel nucleic acids.
HI965250 - Sequence 535 from Patent WO2010139812.
HZ074796 - JP 2013535982-A/887: Single-Stranded RNAi Agents Containing an Internal, Non-Nucleic Acid Spacer.
HZ083378 - JP 2015513906-A/735: Stem Cell Microparticles.
HZ437159 - JP 2015529450-A/735: Stem Cell Microparticles.
HZ479989 - JP 2015535430-A/495: TERMINALLY MODIFIED RNA.
HZ789920 - JP 2016504050-A/1665: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JA401288 - Sequence 535 from Patent WO2011080318.
JA402266 - Sequence 535 from Patent WO2011080315.
JA403273 - Sequence 535 from Patent WO2011080316.
JA405904 - Sequence 535 from Patent EP2336353.
JA429430 - Sequence 535 from Patent WO2011095623.
JB620981 - Sequence 961 from Patent WO2013063544.
JC172363 - Sequence 735 from Patent WO2013150303.
JC512652 - Sequence 2905 from Patent WO2014113089.
JC573174 - Sequence 735 from Patent WO2014125276.
JC582862 - Sequence 735 from Patent WO2014125277.
JE954558 - Sequence 735 from Patent WO2015052526.
JE956311 - Sequence 735 from Patent WO2015052527.
LF138063 - JP 2016507550-A/735: Method of Producing Microparticles.
LF160462 - JP 2016513950-A/528: Oligomers with improved off-target profile.
LF163028 - JP 2016513095-A/735: Stem Cell Microparticles and miRNA.
LF953780 - JP 2016534103-A/735: Stem Cell Microparticles and miRNA.
LG006125 - KR 1020150004822-A/735: STEM CELL MICROPARTICLES.
LG053821 - KR 1020150059168-A/735: STEM CELL MICROPARTICLES.
LG241060 - KR 1020160035087-A/735: STEM CELL MICROPARTICLES AND MIRNA.
LQ070240 - Sequence 564 from Patent EP2964234.
LQ724492 - Sequence 125 from Patent WO2018096084.
LV471145 - JP 2016534036-A/735: Stem Cell Microparticles and miRNA.
MS834389 - Sequence 535 from Patent EP3112479.
HZ083111 - JP 2015513906-A/468: Stem Cell Microparticles.
HZ436892 - JP 2015529450-A/468: Stem Cell Microparticles.
HZ479990 - JP 2015535430-A/496: TERMINALLY MODIFIED RNA.
HZ789921 - JP 2016504050-A/1666: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC172096 - Sequence 468 from Patent WO2013150303.
JC512653 - Sequence 2906 from Patent WO2014113089.
JC572907 - Sequence 468 from Patent WO2014125276.
JC582595 - Sequence 468 from Patent WO2014125277.
JE954291 - Sequence 468 from Patent WO2015052526.
JE956044 - Sequence 468 from Patent WO2015052527.
LF137796 - JP 2016507550-A/468: Method of Producing Microparticles.
LF160710 - JP 2016513950-A/776: Oligomers with improved off-target profile.
LF162761 - JP 2016513095-A/468: Stem Cell Microparticles and miRNA.
LF953513 - JP 2016534103-A/468: Stem Cell Microparticles and miRNA.
LG005858 - KR 1020150004822-A/468: STEM CELL MICROPARTICLES.
LG053554 - KR 1020150059168-A/468: STEM CELL MICROPARTICLES.
LG240793 - KR 1020160035087-A/468: STEM CELL MICROPARTICLES AND MIRNA.
LP997064 - Sequence 13 from Patent WO2017136662.
LQ070241 - Sequence 565 from Patent EP2964234.
LV470878 - JP 2016534036-A/468: Stem Cell Microparticles and miRNA.
HI965657 - Sequence 942 from Patent WO2010139812.
JA401695 - Sequence 942 from Patent WO2011080318.
JA402673 - Sequence 942 from Patent WO2011080315.
JA403680 - Sequence 942 from Patent WO2011080316.
JA406311 - Sequence 942 from Patent EP2336353.
JA429837 - Sequence 942 from Patent WO2011095623.
MS834796 - Sequence 942 from Patent EP3112479.
JD554570 - Sequence 535594 from Patent EP1572962.
JD336699 - Sequence 317723 from Patent EP1572962.
LF332043 - JP 2014500723-A/139546: Polycomb-Associated Non-Coding RNAs.
MA643741 - JP 2017113010-A/1665: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA731625 - JP 2017140048-A/495: TERMINALLY MODIFIED RNA.
MA643742 - JP 2017113010-A/1666: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA731626 - JP 2017140048-A/496: TERMINALLY MODIFIED RNA.
MA405433 - WO 2018155427-A/207: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MA405873 - WO 2018155427-A/647: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MA567621 - JP 2018138019-A/139547: Polycomb-Associated Non-Coding RNAs.
MA567620 - JP 2018138019-A/139546: Polycomb-Associated Non-Coding RNAs.
MP073566 - Sequence 13 from Patent WO2018236590.
MP080339 - Sequence 13 from Patent WO2018236589.
MA800794 - JP 2018183181-A/1665: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA800795 - JP 2018183181-A/1666: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MP129835 - Sequence 735 from Patent EP3470073.
MP162758 - Sequence 735 from Patent WO2019069093.
MP129568 - Sequence 468 from Patent EP3470073.
MP162491 - Sequence 468 from Patent WO2019069093.
LF332029 - JP 2014500723-A/139532: Polycomb-Associated Non-Coding RNAs.
MA567606 - JP 2018138019-A/139532: Polycomb-Associated Non-Coding RNAs.
JD091923 - Sequence 72947 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7C6, B4DJ14, B4DLG5, C5orf21, F172A_HUMAN, NM_032042, NP_001156889, Q8WUF8, Q9H0U8
UCSC ID: uc010jbd.3
RefSeq Accession: NM_032042
Protein: Q8WUF8 (aka F172A_HUMAN)
CCDS: CCDS4069.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032042.5
exon count: 11CDS single in 3' UTR: no RNA size: 4720
ORF size: 1251CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2521.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.