Human Gene TMEM126B (ENST00000358867.11_8) from GENCODE V47lift37
  Description: transmembrane protein 126B, transcript variant 11 (from RefSeq NR_146646.1)
Gencode Transcript: ENST00000358867.11_8
Gencode Gene: ENSG00000171204.13_8
Transcript (Including UTRs)
   Position: hg19 chr11:85,339,637-85,347,580 Size: 7,944 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr11:85,339,652-85,347,273 Size: 7,622 Coding Exon Count: 5 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:85,339,637-85,347,580)mRNA (may differ from genome)Protein (230 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: T126B_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 126B;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the TMEM126 family.
SEQUENCE CAUTION: Sequence=AAI07901.1; Type=Frameshift; Positions=59;

-  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: TMEM126B
Diseases sorted by gene-association score: mitochondrial complex i deficiency* (203), mitochondrial metabolism disease* (181), mitochondrial disorders* (123)
* = Manually curated disease association

-  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: 17.88 RPKM in Brain - Hypothalamus
Total median expression: 638.44 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
3' UTR -60.10307-0.196 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
IPR009801 - DUF1370_TMEM126

Pfam Domains:
PF07114 - Transmembrane protein 126

ModBase Predicted Comparative 3D Structure on Q8IUX1
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0008150 biological_process
GO:0032981 mitochondrial respiratory chain complex I assembly

Cellular Component:
GO:0005575 cellular_component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane


-  Descriptions from all associated GenBank mRNAs
  KJ902891 - Synthetic construct Homo sapiens clone ccsbBroadEn_12285 TMEM126B gene, encodes complete protein.
KJ894278 - Synthetic construct Homo sapiens clone ccsbBroadEn_03672 TMEM126B gene, encodes complete protein.
KJ906246 - Synthetic construct Homo sapiens clone ccsbBroadEn_15916 TMEM126B gene, encodes complete protein.
AK298189 - Homo sapiens cDNA FLJ61147 complete cds.
BC017574 - Homo sapiens transmembrane protein 126B, mRNA (cDNA clone MGC:24471 IMAGE:4083205), complete cds.
BC107900 - Homo sapiens transmembrane protein 126B, mRNA (cDNA clone IMAGE:30318581), complete cds.
AF246240 - Homo sapiens HT026 mRNA, complete cds.
AK291150 - Homo sapiens cDNA FLJ76403 complete cds.
AF220193 - Homo sapiens uncharacterized hypothalamus protein HT007 mRNA, complete cds.
BC038933 - Homo sapiens transmembrane protein 126B, mRNA (cDNA clone MGC:45052 IMAGE:5180998), complete cds.
BC012065 - Homo sapiens transmembrane protein 126B, mRNA (cDNA clone MGC:19920 IMAGE:4575766), complete cds.
JD215304 - Sequence 196328 from Patent EP1572962.
CU676012 - Synthetic construct Homo sapiens gateway clone IMAGE:100017533 5' read TMEM126B mRNA.
DQ895485 - Synthetic construct Homo sapiens clone IMAGE:100009945; FLH184854.01L; RZPDo839C08145D transmembrane protein 126B (TMEM126B) gene, encodes complete protein.
DQ892285 - Synthetic construct clone IMAGE:100004915; FLH184858.01X; RZPDo839C08146D transmembrane protein 126B (TMEM126B) gene, encodes complete protein.
CU680196 - Synthetic construct Homo sapiens gateway clone IMAGE:100018543 5' read TMEM126B mRNA.
CU691618 - Synthetic construct Homo sapiens gateway clone IMAGE:100023248 5' read TMEM126B mRNA.
DL491806 - Novel nucleic acids.
DL490381 - Novel nucleic acids.
JD562020 - Sequence 543044 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8IUX1 (Reactome details) participates in the following event(s):

R-HSA-6799199 ND2, ND3, ND6, NDUFB6 bind the MCIA complex to form a 370kDa subcomplex
R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I
R-HSA-6799202 The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex
R-HSA-6799197 ND4, ND5 bind the 550kDa complex to form the 815kDa complex
R-HSA-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex
R-HSA-6799198 Complex I biogenesis
R-HSA-611105 Respiratory electron transport
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K535, A8MSS0, ENST00000358867.1, ENST00000358867.10, ENST00000358867.2, ENST00000358867.3, ENST00000358867.4, ENST00000358867.5, ENST00000358867.6, ENST00000358867.7, ENST00000358867.8, ENST00000358867.9, HT007, NR_146646, Q32Q09, Q8IUX1, Q8WVU3, Q96EP3, Q9NZ29, T126B_HUMAN, TMEM126B , uc318aua.1, uc318aua.2
UCSC ID: ENST00000358867.11_8
RefSeq Accession: NM_018480.7
Protein: Q8IUX1 (aka T126B_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.