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Aliases for TMEM126B Gene

Aliases for TMEM126B Gene

  • Transmembrane Protein 126B 2 3 4 5
  • Complex I Assembly Factor TMEM126B, Mitochondrial 3
  • HT007 3

External Ids for TMEM126B Gene

Previous GeneCards Identifiers for TMEM126B Gene

  • GC11P085018
  • GC11P085339
  • GC11P081636

Summaries for TMEM126B Gene

Entrez Gene Summary for TMEM126B Gene

  • This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]

GeneCards Summary for TMEM126B Gene

TMEM126B (Transmembrane Protein 126B) is a Protein Coding gene. Diseases associated with TMEM126B include Mitochondrial Complex I Deficiency and Mitochondrial Metabolism Disease. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. 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

Additional gene information for TMEM126B Gene

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

Genomics for TMEM126B Gene

GeneHancer (GH) Regulatory Elements for TMEM126B Gene

Promoters and enhancers for TMEM126B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I085626 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.3 -297 3 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 DLG2 TMEM126B CREBZF EED TMEM126A SYTL2 RNU6-1292P
GH11I085786 Enhancer 1.1 Ensembl ENCODE dbSUPER 13.2 +158.9 158936 2.6 GTF2F1 FOXA2 NFIB JUN ZNF529 GATA3 FOSL2 FOS TEAD1 CEBPB SYTL2 TMEM126B CCDC89 CCDC83
GH11I086589 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.1 +965.3 965303 8.2 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A IRF4 SLC30A9 FOS DEK JUNB ME3 EED CREBZF ENSG00000279742 LOC100420680 TMEM126B CCDC89 PRSS23 GC11P086590 PIR37636
GH11I086481 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.6 +855.2 855198 5.4 PKNOX1 SIN3A BRCA1 TCF12 GLIS2 FOS KLF13 DEK REST TSHZ1 ME3 TMEM126B PRSS23 CCDC81 PIR54337 GC11M086459 ENSG00000254733
GH11I085695 Enhancer 0.5 ENCODE 10.1 +66.0 65990 0.1 SRF CTCF ZNF654 SMC3 RAD21 CCDC83 TMEM126B DLG2 HIKESHI CCDC89 SYTL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM126B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM126B gene promoter:

Genomic Locations for TMEM126B Gene

Genomic Locations for TMEM126B Gene
chr11:85,628,573-85,636,539
(GRCh38/hg38)
Size:
7,967 bases
Orientation:
Plus strand
chr11:85,339,622-85,347,583
(GRCh37/hg19)

Genomic View for TMEM126B Gene

Genes around TMEM126B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM126B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM126B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TMEM126B Gene

No data available for DME Specific Peptides for TMEM126B Gene

Domains & Families for TMEM126B Gene

Gene Families for TMEM126B Gene

Protein Domains for TMEM126B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM126B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUX1

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for TMEM126B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM126B gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2
plasma membrane 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM126B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM126B: view

Pathways & Interactions for TMEM126B Gene

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

Gene Ontology (GO) - Biological Process for TMEM126B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
genes like me logo Genes that share ontologies with TMEM126B: view

No data available for SIGNOR curated interactions for TMEM126B Gene

Drugs & Compounds for TMEM126B Gene

No Compound Related Data Available

Transcripts for TMEM126B Gene

Unigene Clusters for TMEM126B Gene

Transmembrane protein 126B:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM126B Gene

Protein differential expression in normal tissues from HIPED for TMEM126B Gene

This gene is overexpressed in Lung (23.2), Peripheral blood mononuclear cells (17.6), and Heart (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM126B Gene



Protein tissue co-expression partners for TMEM126B Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM126B Gene:

TMEM126B

SOURCE GeneReport for Unigene cluster for TMEM126B Gene:

Hs.525063

Evidence on tissue expression from TISSUES for TMEM126B Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with TMEM126B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM126B Gene

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 33 34
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia TMEM126B 33 34
  • 80.58 (n)
dog
(Canis familiaris)
Mammalia TMEM126B 33 34
  • 80.43 (n)
rat
(Rattus norvegicus)
Mammalia Tmem126b 33
  • 73.12 (n)
mouse
(Mus musculus)
Mammalia Tmem126b 33 16 34
  • 73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM126B 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 25 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii tmem126a 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.945 34
  • 14 (a)
OneToMany
Species where no ortholog for TMEM126B was found in the sources mined by GeneCards:
  • 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

(1) 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 Variation AA Info Type
rs141542003 pathogenic, Mitochondrial complex I deficiency, Mitochondrial diseases 85,636,171(+) G/T coding_sequence_variant, missense_variant
rs573006534 pathogenic, Mitochondrial complex I deficiency 85,634,279(+) G/A coding_sequence_variant, missense_variant
rs886037835 pathogenic, Mitochondrial complex I deficiency, Mitochondrial diseases 85,635,669(+) AA/A coding_sequence_variant, frameshift
rs886037857 pathogenic, Mitochondrial complex I deficiency 85,634,090(+) C/T coding_sequence_variant, stop_gained
rs1000228247 -- 85,636,795(+) T/A downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2744848 CNV deletion 23290073
esv2759845 CNV gain+loss 17122850

Variation tolerance for TMEM126B Gene

Residual Variation Intolerance Score: 71.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 29.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM126B Gene

Human Gene Mutation Database (HGMD)
TMEM126B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM126B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM126B Gene

Disorders for TMEM126B Gene

MalaCards: The human disease database

(3) MalaCards diseases for TMEM126B Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
mitochondrial metabolism disease
  • mitochondrial diseases
mitochondrial disorders
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM126B

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

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

Publications for TMEM126B Gene

  1. Assembly factors for the membrane arm of human complex I. (PMID: 24191001) Andrews B … Walker JE (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
  2. Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex. (PMID: 22982022) Heide H … Brandt U (Cell metabolism 2012) 2 3 58
  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 (Human molecular genetics 2009) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58

Products for TMEM126B Gene

Sources for TMEM126B Gene

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