Human Gene FAM117B (ENST00000392238.3_4) from GENCODE V47lift37
  Description: family with sequence similarity 117 member B (from RefSeq NM_173511.4)
Gencode Transcript: ENST00000392238.3_4
Gencode Gene: ENSG00000138439.12_7
Transcript (Including UTRs)
   Position: hg19 chr2:203,499,692-203,634,480 Size: 134,789 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr2:203,499,911-203,630,487 Size: 130,577 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:203,499,692-203,634,480)mRNA (may differ from genome)Protein (589 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F117B_HUMAN
DESCRIPTION: RecName: Full=Protein FAM117B; AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein;
MISCELLANEOUS: ALS2CR13 is mapped in the genomic region covering the complete candidate region for Amyotrophic lateral sclerosis 2 (ALS2).
SEQUENCE CAUTION: Sequence=AAI06907.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI06908.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAX76518.1; Type=Erroneous gene model prediction; Sequence=BAB69023.1; Type=Frameshift; Positions=150; Sequence=BAB69023.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=BAC04700.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: FAM117B
Diseases sorted by gene-association score: lateral sclerosis (5)

-  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: 6.29 RPKM in Adrenal Gland
Total median expression: 131.58 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 -95.60219-0.437 Picture PostScript Text
3' UTR -1013.403993-0.254 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
IPR026641 - FAM117B
IPR026642 - Glcci1/FAM117

Pfam Domains:
PF15388 - Protein Family FAM117

ModBase Predicted Comparative 3D Structure on Q6P1L5
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding


-  Descriptions from all associated GenBank mRNAs
  AK096090 - Homo sapiens cDNA FLJ38771 fis, clone KIDNE2016388.
LF383611 - JP 2014500723-A/191114: Polycomb-Associated Non-Coding RNAs.
AB053315 - Homo sapiens ALS2CR13 mRNA, partial cds.
MA619188 - JP 2018138019-A/191114: Polycomb-Associated Non-Coding RNAs.
JD211266 - Sequence 192290 from Patent EP1572962.
JD407351 - Sequence 388375 from Patent EP1572962.
JD458515 - Sequence 439539 from Patent EP1572962.
JD458521 - Sequence 439545 from Patent EP1572962.
JD406062 - Sequence 387086 from Patent EP1572962.
BC065010 - Homo sapiens family with sequence similarity 117, member B, mRNA (cDNA clone IMAGE:6166903), partial cds.
JD137639 - Sequence 118663 from Patent EP1572962.
BC106906 - Homo sapiens family with sequence similarity 117, member B, mRNA (cDNA clone MGC:125968 IMAGE:40031780), complete cds.
BC106907 - Homo sapiens family with sequence similarity 117, member B, mRNA (cDNA clone MGC:125969 IMAGE:40031781), complete cds.
JD142954 - Sequence 123978 from Patent EP1572962.
JD272726 - Sequence 253750 from Patent EP1572962.
JD437886 - Sequence 418910 from Patent EP1572962.
KJ903872 - Synthetic construct Homo sapiens clone ccsbBroadEn_13266 FAM117B gene, encodes complete protein.
LF317843 - JP 2014500723-A/125346: Polycomb-Associated Non-Coding RNAs.
LF317844 - JP 2014500723-A/125347: Polycomb-Associated Non-Coding RNAs.
LF317845 - JP 2014500723-A/125348: Polycomb-Associated Non-Coding RNAs.
LF317846 - JP 2014500723-A/125349: Polycomb-Associated Non-Coding RNAs.
LF317848 - JP 2014500723-A/125351: Polycomb-Associated Non-Coding RNAs.
BX537704 - Homo sapiens mRNA; cDNA DKFZp686H01244 (from clone DKFZp686H01244).
LF317850 - JP 2014500723-A/125353: Polycomb-Associated Non-Coding RNAs.
LF317851 - JP 2014500723-A/125354: Polycomb-Associated Non-Coding RNAs.
JD201176 - Sequence 182200 from Patent EP1572962.
JD183099 - Sequence 164123 from Patent EP1572962.
JD231070 - Sequence 212094 from Patent EP1572962.
JD091671 - Sequence 72695 from Patent EP1572962.
JD097140 - Sequence 78164 from Patent EP1572962.
JD048142 - Sequence 29166 from Patent EP1572962.
JD087966 - Sequence 68990 from Patent EP1572962.
LF317852 - JP 2014500723-A/125355: Polycomb-Associated Non-Coding RNAs.
LF317853 - JP 2014500723-A/125356: Polycomb-Associated Non-Coding RNAs.
LF317854 - JP 2014500723-A/125357: Polycomb-Associated Non-Coding RNAs.
LF317855 - JP 2014500723-A/125358: Polycomb-Associated Non-Coding RNAs.
AK025007 - Homo sapiens cDNA: FLJ21354 fis, clone COL02773.
LF317856 - JP 2014500723-A/125359: Polycomb-Associated Non-Coding RNAs.
LF317857 - JP 2014500723-A/125360: Polycomb-Associated Non-Coding RNAs.
BC021689 - Homo sapiens, clone IMAGE:3961327, mRNA.
LF317858 - JP 2014500723-A/125361: Polycomb-Associated Non-Coding RNAs.
LF317859 - JP 2014500723-A/125362: Polycomb-Associated Non-Coding RNAs.
LF317860 - JP 2014500723-A/125363: Polycomb-Associated Non-Coding RNAs.
MA553420 - JP 2018138019-A/125346: Polycomb-Associated Non-Coding RNAs.
MA553421 - JP 2018138019-A/125347: Polycomb-Associated Non-Coding RNAs.
MA553422 - JP 2018138019-A/125348: Polycomb-Associated Non-Coding RNAs.
MA553423 - JP 2018138019-A/125349: Polycomb-Associated Non-Coding RNAs.
MA553425 - JP 2018138019-A/125351: Polycomb-Associated Non-Coding RNAs.
MA553427 - JP 2018138019-A/125353: Polycomb-Associated Non-Coding RNAs.
MA553428 - JP 2018138019-A/125354: Polycomb-Associated Non-Coding RNAs.
MA553429 - JP 2018138019-A/125355: Polycomb-Associated Non-Coding RNAs.
MA553430 - JP 2018138019-A/125356: Polycomb-Associated Non-Coding RNAs.
MA553431 - JP 2018138019-A/125357: Polycomb-Associated Non-Coding RNAs.
MA553432 - JP 2018138019-A/125358: Polycomb-Associated Non-Coding RNAs.
MA553433 - JP 2018138019-A/125359: Polycomb-Associated Non-Coding RNAs.
MA553434 - JP 2018138019-A/125360: Polycomb-Associated Non-Coding RNAs.
MA553435 - JP 2018138019-A/125361: Polycomb-Associated Non-Coding RNAs.
MA553436 - JP 2018138019-A/125362: Polycomb-Associated Non-Coding RNAs.
MA553437 - JP 2018138019-A/125363: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ALS2CR13, ENST00000392238.1, ENST00000392238.2, F117B_HUMAN, NM_173511, Q53QZ5, Q585T9, Q6P1L5, Q8N8W1, Q96Q34, uc318uyc.1, uc318uyc.2
UCSC ID: ENST00000392238.3_4
RefSeq Accession: NM_173511.4
Protein: Q6P1L5 (aka F117B_HUMAN)

-  Gene Model Information
  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.