Human Gene FAM83B (uc003pck.4)
  Description: Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr6:54,711,569-54,809,897 Size: 98,329 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr6:54,735,045-54,806,805 Size: 71,761 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:54,711,569-54,809,897)mRNA (may differ from genome)Protein (1011 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FA83B_HUMAN
DESCRIPTION: RecName: Full=Protein FAM83B;
SIMILARITY: Belongs to the FAM83 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FAM83B
CDC HuGE Published Literature: FAM83B
Positive Disease Associations: Coronary Artery Disease , Neuroblastoma
Related Studies:
  1. Coronary Artery Disease
    , , . [PubMed 0]
  2. Coronary Artery Disease
    , , . [PubMed 0]
  3. Neuroblastoma
    John M Maris et al. The New England journal of medicine 2008, Chromosome 6p22 locus associated with clinically aggressive neuroblastoma., The New England journal of medicine. [PubMed 18463370]
    A common genetic variation at chromosome band 6p22 is associated with susceptibility to neuroblastoma.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: FAM83B
Diseases sorted by gene-association score: lung squamous cell carcinoma (3)

-  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: 16.22 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 64.34 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 -34.60116-0.298 Picture PostScript Text
3' UTR -788.293092-0.255 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
IPR012461 - DUF1669

Pfam Domains:
PF07894 - Protein of unknown function (DUF1669)
PF13091 - PLD-like domain

SCOP Domains:
56024 - Phospholipase D/nuclease

ModBase Predicted Comparative 3D Structure on Q5T0W9
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005154 epidermal growth factor receptor binding
GO:0019901 protein kinase binding
GO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding
GO:0036313 phosphatidylinositol 3-kinase catalytic subunit binding
GO:0004630 phospholipase D activity

Biological Process:
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0008283 cell proliferation

Cellular Component:
GO:0005737 cytoplasm
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK055204 - Homo sapiens cDNA FLJ30642 fis, clone CTONG2002965.
BC101628 - Homo sapiens family with sequence similarity 83, member B, mRNA (cDNA clone MGC:126677 IMAGE:8069134), complete cds.
BC112275 - Homo sapiens family with sequence similarity 83, member B, mRNA (cDNA clone MGC:138480 IMAGE:8327743), complete cds.
JD213110 - Sequence 194134 from Patent EP1572962.
JD337606 - Sequence 318630 from Patent EP1572962.
JD345712 - Sequence 326736 from Patent EP1572962.
AK024927 - Homo sapiens cDNA: FLJ21274 fis, clone COL01781.

-  Other Names for This Gene
  Alternate Gene Symbols: C6orf143, FA83B_HUMAN, NM_001010872, NP_001010872, Q2M1P3, Q5T0W9, Q96DQ2, uc003pck.3
UCSC ID: uc003pck.4
RefSeq Accession: NM_001010872
Protein: Q5T0W9 (aka FA83B_HUMAN)
CCDS: CCDS34479.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001010872.2
exon count: 5CDS single in 3' UTR: no RNA size: 6269
ORF size: 3036CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6252.50frame shift in genome: no % Coverage: 99.60
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.