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Aliases for TMEM126B Gene

Aliases for TMEM126B Gene

  • Transmembrane Protein 126B 2 3 4
  • Complex I Assembly Factor TMEM126B, Mitochondrial 3
  • HT007 3

External Ids for TMEM126B Gene

Summaries for TMEM126B Gene

GeneCards Summary for TMEM126B Gene

TMEM126B (Transmembrane Protein 126B) is a Protein Coding gene. An important paralog of this gene is TMEM126A.

UniProtKB/Swiss-Prot for TMEM126B Gene

  • Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.

Gene Wiki entry for TMEM126B Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM126B Gene

Genomics for TMEM126B Gene

Genomic Location for TMEM126B Gene

Start:
85,628,573 bp from pter
End:
85,636,539 bp from pter
Size:
7,967 bases
Orientation:
Plus strand

Genomic View for TMEM126B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM126B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM126B Gene

Regulatory Elements for TMEM126B Gene

Proteins for TMEM126B Gene

  • Protein details for TMEM126B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUX1-T126B_HUMAN
    Recommended name:
    Complex I assembly factor TMEM126B, mitochondrial
    Protein Accession:
    Q8IUX1
    Secondary Accessions:
    • A8K535
    • A8MSS0
    • Q32Q09
    • Q8WVU3
    • Q96EP3
    • Q9NZ29

    Protein attributes for TMEM126B Gene

    Size:
    230 amino acids
    Molecular mass:
    25943 Da
    Quaternary structure:
    • Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity). Associates with the intermediate 370 kDa subcomplex of incompletely assembled complex I.
    SequenceCaution:
    • Sequence=AAI07901.1; Type=Frameshift; Positions=59; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM126B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM126B Gene

Proteomics data for TMEM126B Gene at MOPED

Post-translational modifications for TMEM126B Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys27

No data available for DME Specific Peptides for TMEM126B Gene

Domains for TMEM126B Gene

Gene Families for TMEM126B Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for TMEM126B Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

T126B_HUMAN
Family:
  • Belongs to the TMEM126 family.:
    • Q8IUX1
genes like me logo Genes that share domains with TMEM126B: view

Function for TMEM126B Gene

Molecular function for TMEM126B Gene

UniProtKB/Swiss-Prot Function: Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.

Gene Ontology (GO) - Molecular Function for TMEM126B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMEM126B: view

Phenotypes for TMEM126B Gene

GenomeRNAi human phenotypes for TMEM126B:
genes like me logo Genes that share phenotypes with TMEM126B: view

miRNA for TMEM126B Gene

miRTarBase miRNAs that target TMEM126B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TMEM126B Gene

Localization for TMEM126B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM126B Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM126B Gene COMPARTMENTS Subcellular localization image for TMEM126B gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TMEM126B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with TMEM126B: view

Pathways for TMEM126B Gene

SuperPathways for TMEM126B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM126B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMEM126B: view

No data available for Pathways by source for TMEM126B Gene

Transcripts for TMEM126B Gene

Unigene Clusters for TMEM126B Gene

Transmembrane protein 126B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM126B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
SP1: - -
SP2: - - -
SP3: - - - -
SP4:
SP5: - -
SP6: -

Relevant External Links for TMEM126B Gene

GeneLoc Exon Structure for
TMEM126B
ECgene alternative splicing isoforms for
TMEM126B

Expression for TMEM126B Gene

mRNA expression in normal human tissues for TMEM126B Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM126B Gene

SOURCE GeneReport for Unigene cluster for TMEM126B Gene Hs.525063

genes like me logo Genes that share expressions with TMEM126B: view

Orthologs for TMEM126B Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM126B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM126B 36
  • 99.57 (n)
  • 99.13 (a)
TMEM126B 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM126B 36
  • 80.58 (n)
  • 64.78 (a)
TMEM126B 37
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM126B 36
  • 80.43 (n)
  • 63.91 (a)
TMEM126B 37
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem126b 36
  • 73 (n)
  • 57.01 (a)
Tmem126b 16
Tmem126b 37
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM126B 37
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem126b 36
  • 73.12 (n)
  • 57.66 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 25 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii tmem126a 37
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.945 37
  • 14 (a)
OneToMany
Species with no ortholog for TMEM126B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM126B Gene

ENSEMBL:
Gene Tree for TMEM126B (if available)
TreeFam:
Gene Tree for TMEM126B (if available)

Paralogs for TMEM126B Gene

Paralogs for TMEM126B Gene

Selected SIMAP similar genes for TMEM126B Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for TMEM126B Gene

genes like me logo Genes that share paralogs with TMEM126B: view

Variants for TMEM126B Gene

Sequence variations from dbSNP and Humsavar for TMEM126B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs530933 -- 85,636,944(+) aaaaa(A/G)aaaga downstream-variant-500B
rs603335 -- 85,635,839(+) ttttt(A/T)AGGTT intron-variant
rs608211 -- 85,636,970(-) TCCTT(C/T)TAGGT downstream-variant-500B
rs631392 -- 85,629,663(+) GATGA(G/T)AGCAA intron-variant
rs635338 -- 85,631,859(+) TCTTT(G/T)GTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM126B Gene

Variant ID Type Subtype PubMed ID
dgv1246n71 CNV Loss 21882294
essv7704 CNV CNV 17122850
esv678 CNV CNV 17122850
essv22464 CNV CNV 17122850
esv2744848 CNV Deletion 23290073

Relevant External Links for TMEM126B Gene

HapMap Linkage Disequilibrium report
TMEM126B

Disorders for TMEM126B Gene

Relevant External Links for TMEM126B

Genetic Association Database (GAD)
TMEM126B
genes like me logo Genes that share disorders with TMEM126B: view

No data available for UniProtKB/Swiss-Prot for TMEM126B Gene

Publications for TMEM126B Gene

  1. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (PMID: 19570815) Estrada K. … Kayser M. (Hum. Mol. Genet. 2009) 3 49
  4. Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex. (PMID: 22982022) Heide H. … Brandt U. (Cell Metab. 2012) 2 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for TMEM126B Gene

Sources for TMEM126B Gene

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