Human Gene FAM124B (uc002vnx.3) Description and Page Index
  Description: Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:225,243,415-225,266,711 Size: 23,297 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr2:225,244,290-225,266,485 Size: 22,196 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:225,243,415-225,266,711)mRNA (may differ from genome)Protein (455 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: F124B_HUMAN
DESCRIPTION: RecName: Full=Protein FAM124B;
INTERACTION: Q99750:MDFI; NbExp=4; IntAct=EBI-741626, EBI-724076;
SIMILARITY: Belongs to the FAM124 family.
SEQUENCE CAUTION: Sequence=BAB15471.1; Type=Frameshift; Positions=264;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FAM124B
CDC HuGE Published Literature: FAM124B
Positive Disease Associations: Myocardial Infarction
Related Studies:
  1. Myocardial Infarction
    , , . [PubMed 0]
  2. Myocardial Infarction
    , , . [PubMed 0]
  3. Myocardial Infarction
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: FAM124B
Diseases sorted by gene-association score: charge syndrome (2)

-  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: 2.56 RPKM in Adipose - Subcutaneous
Total median expression: 23.24 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.70226-0.357 Picture PostScript Text
3' UTR -227.50875-0.260 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
  Pfam Domains:
PF15067 - FAM124 family

ModBase Predicted Comparative 3D Structure on Q9H5Z6
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:0005515 protein binding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  BC025754 - Homo sapiens family with sequence similarity 124B, mRNA (cDNA clone MGC:34161 IMAGE:5202295), complete cds.
AK026399 - Homo sapiens cDNA: FLJ22746 fis, clone HUV01174.
AK075126 - Homo sapiens cDNA FLJ90645 fis, clone PLACE1004199.
JD164605 - Sequence 145629 from Patent EP1572962.
JD538726 - Sequence 519750 from Patent EP1572962.
JD060327 - Sequence 41351 from Patent EP1572962.
JD403583 - Sequence 384607 from Patent EP1572962.
JD160271 - Sequence 141295 from Patent EP1572962.
JD540459 - Sequence 521483 from Patent EP1572962.
JD538914 - Sequence 519938 from Patent EP1572962.
JD373743 - Sequence 354767 from Patent EP1572962.
JD155578 - Sequence 136602 from Patent EP1572962.
JD137224 - Sequence 118248 from Patent EP1572962.
JD227330 - Sequence 208354 from Patent EP1572962.
JD148628 - Sequence 129652 from Patent EP1572962.
JD193477 - Sequence 174501 from Patent EP1572962.
JD334368 - Sequence 315392 from Patent EP1572962.
JD285339 - Sequence 266363 from Patent EP1572962.
JD093394 - Sequence 74418 from Patent EP1572962.
JD330388 - Sequence 311412 from Patent EP1572962.
JD407966 - Sequence 388990 from Patent EP1572962.
JD159389 - Sequence 140413 from Patent EP1572962.
JD188289 - Sequence 169313 from Patent EP1572962.
JD041247 - Sequence 22271 from Patent EP1572962.
JD339779 - Sequence 320803 from Patent EP1572962.
JD065520 - Sequence 46544 from Patent EP1572962.
JD339193 - Sequence 320217 from Patent EP1572962.
JD107854 - Sequence 88878 from Patent EP1572962.
JD119237 - Sequence 100261 from Patent EP1572962.
JD275505 - Sequence 256529 from Patent EP1572962.
JD530798 - Sequence 511822 from Patent EP1572962.
HQ447160 - Synthetic construct Homo sapiens clone IMAGE:100070448; CCSB008273_01 family with sequence similarity 124B (FAM124B) gene, encodes complete protein.
KJ894742 - Synthetic construct Homo sapiens clone ccsbBroadEn_04136 FAM124B gene, encodes complete protein.
CU693050 - Synthetic construct Homo sapiens gateway clone IMAGE:100016944 5' read FAM124B mRNA.
JD168844 - Sequence 149868 from Patent EP1572962.
JD142786 - Sequence 123810 from Patent EP1572962.
JD232909 - Sequence 213933 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NNC7, F124B_HUMAN, NM_001122779, NP_001116251, Q8NBZ4, Q8TAV7, Q9H5Z6
UCSC ID: uc002vnx.3
RefSeq Accession: NM_001122779
Protein: Q9H5Z6 (aka F124B_HUMAN)
CCDS: CCDS46527.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001122779.1
exon count: 2CDS single in 3' UTR: no RNA size: 2568
ORF size: 1368CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2936.00frame shift in genome: no % Coverage: 96.14
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.