Human Gene FAM136A (ENST00000037869.8) from GENCODE V44
  Description: Homo sapiens family with sequence similarity 136 member A (FAM136A), transcript variant 1, mRNA. (from RefSeq NM_032822)
RefSeq Summary (NM_032822): This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016].
Gencode Transcript: ENST00000037869.8
Gencode Gene: ENSG00000035141.9
Transcript (Including UTRs)
   Position: hg38 chr2:70,295,976-70,302,067 Size: 6,092 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr2:70,297,289-70,302,011 Size: 4,723 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:70,295,976-70,302,067)mRNA (may differ from genome)Protein (138 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDMalacardsMGIneXtProtOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F136A_HUMAN
DESCRIPTION: RecName: Full=Protein FAM136A;
INTERACTION: O15116:LSM1; NbExp=1; IntAct=EBI-373319, EBI-347619;
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
SIMILARITY: Belongs to the FAM136 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


-  MalaCards Disease Associations
  MalaCards Gene Search: FAM136A
Diseases sorted by gene-association score: meniere's disease* (435), deafness, autosomal dominant 28 (12), deafness, autosomal dominant 15 (12), deafness, autosomal dominant 11 (12), deafness, autosomal dominant 9 (11), motion sickness (6), vestibular disease (5), peripheral vertigo (5)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.29 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 576.97 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.2056-0.468 Picture PostScript Text
3' UTR -349.201313-0.266 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
IPR008560 - DUF842_euk

Pfam Domains:
PF05811 - Eukaryotic protein of unknown function (DUF842)

ModBase Predicted Comparative 3D Structure on Q96C01
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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AL833147 - Homo sapiens mRNA; cDNA DKFZp313F0140 (from clone DKFZp313F0140).
BC026293 - Homo sapiens family with sequence similarity 136, member A, mRNA (cDNA clone IMAGE:4612550), with apparent retained intron.
AK027574 - Homo sapiens cDNA FLJ14668 fis, clone NT2RP2003194.
JD082899 - Sequence 63923 from Patent EP1572962.
AK225151 - Homo sapiens mRNA for hypothetical protein LOC84908 variant, clone: CBL07744.
JD158643 - Sequence 139667 from Patent EP1572962.
JD544228 - Sequence 525252 from Patent EP1572962.
JD519979 - Sequence 501003 from Patent EP1572962.
JD420594 - Sequence 401618 from Patent EP1572962.
JD532678 - Sequence 513702 from Patent EP1572962.
JD210490 - Sequence 191514 from Patent EP1572962.
JD087250 - Sequence 68274 from Patent EP1572962.
JD052801 - Sequence 33825 from Patent EP1572962.
JD239247 - Sequence 220271 from Patent EP1572962.
JD244414 - Sequence 225438 from Patent EP1572962.
JD347421 - Sequence 328445 from Patent EP1572962.
JD201891 - Sequence 182915 from Patent EP1572962.
AK225148 - Homo sapiens mRNA for hypothetical protein LOC84908 variant, clone: CBL05613.
AK315877 - Homo sapiens cDNA, FLJ79526 complete cds.
JD350256 - Sequence 331280 from Patent EP1572962.
JD359286 - Sequence 340310 from Patent EP1572962.
BC014975 - Homo sapiens family with sequence similarity 136, member A, mRNA (cDNA clone MGC:23146 IMAGE:4903550), complete cds.
AK309543 - Homo sapiens cDNA, FLJ99584.
KJ895051 - Synthetic construct Homo sapiens clone ccsbBroadEn_04445 FAM136A gene, encodes complete protein.
AM393139 - Synthetic construct Homo sapiens clone IMAGE:100002200 for hypothetical protein (FLJ14668 gene).
AB528755 - Synthetic construct DNA, clone: pF1KE0164, Homo sapiens FAM136A gene for family with sequence similarity 136, member A, without stop codon, in Flexi system.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000037869.1, ENST00000037869.2, ENST00000037869.3, ENST00000037869.4, ENST00000037869.5, ENST00000037869.6, ENST00000037869.7, F136A_HUMAN, NM_032822, Q96C01, Q96SS3, uc002sgq.1, uc002sgq.2, uc002sgq.3, uc002sgq.4, uc002sgq.5, uc002sgq.6
UCSC ID: ENST00000037869.8
RefSeq Accession: NM_032822
Protein: Q96C01 (aka F136A_HUMAN)

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