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 as... See more...

Aliases for TMEM126B Gene

Aliases for TMEM126B Gene

  • Transmembrane Protein 126B 2 3 4 5
  • Complex I Assembly Factor TMEM126B, Mitochondrial 3 4
  • HT007 2 3
  • TMEM126B 5
  • MC1DN29 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, Nuclear Type 29 and Mitochondrial Disorders. 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 Summary 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 , Rfam classification and piRNA Summary for TMEM126B Gene

Genomics for TMEM126B Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH11J085626 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -1.0 -972 5.6 SP1 HNRNPL GATAD2A PRDM10 REST TFE3 LEF1 IKZF1 NFKBIZ POLR2A DLG2 HSALNG0086178 TMEM126B lnc-DLG2-1 CREBZF EED TMEM126A SYTL2 CCDC89 RF00994-196
GH11J086481 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.6 +855.6 855628 8 PRDM10 ZNF629 IKZF1 BACH1 JUND PKNOX1 PATZ1 REST NR2C1 IKZF2 ME3 TMEM126B PRSS23 CCDC81 SETP17 piR-31210-010 piR-33338 ENSG00000254733
GH11J086589 Enhancer 1.2 ENCODE dbSUPER 10.1 +965.3 965303 8.2 CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 RFX1 POLR2A BACH1 JUND CREBZF ME3 EED ENSG00000279742 LOC100420680 TMEM126B CCDC89 PRSS23 lnc-CCDC81-2 piR-44637
GH11J085695 Enhancer 0.8 Ensembl ENCODE dbSUPER 10.1 +66.4 66426 1.3 CTCF FOXA1 RAD21 SMC3 ZNF654 ZNF652 lnc-CCDC89-2 CCDC83 TMEM126B DLG2 HIKESHI CCDC89 lnc-CCDC89-4 SYTL2
GH11J085589 Enhancer 0.3 Ensembl 12.1 -39.0 -38972 0.4 TEAD4 YY1 TMEM126B DLG2 CCDC89 piR-36921-012 piR-43106-039 lnc-DLG2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM126B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM126B

Top Transcription factor binding sites by QIAGEN in the TMEM126B gene promoter:
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Msx-1
  • POU2F1
  • POU2F1a
  • STAT5A
  • TBP
  • TFIID

Genomic Locations for TMEM126B Gene

Genomic Locations for TMEM126B Gene
chr11:85,628,573-85,636,540
(GRCh38/hg38)
Size:
7,968 bases
Orientation:
Plus strand
chr11:85,339,622-85,347,583
(GRCh37/hg19)
Size:
7,962 bases
Orientation:
Plus strand

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; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM126B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM126B Gene

Post-translational modifications for TMEM126B Gene

  • Ubiquitination at Lys27
  • Modification sites at PhosphoSitePlus

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:
  • cDNA FLJ76403 (A8K535_HUMAN)
  • Transmembrane protein 126B (T126B_HUMAN)

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.

Phenotypes From GWAS Catalog for TMEM126B Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM126B

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
extracellular 1
nucleus 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:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial 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: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

mRNA/cDNA for TMEM126B Gene

9 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM126B

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

Expression for TMEM126B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM126B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for TMEM126B Gene



Protein tissue co-expression partners for TMEM126B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM126B

SOURCE GeneReport for Unigene cluster for TMEM126B Gene:

Hs.525063

Evidence on tissue expression from TISSUES for TMEM126B Gene

  • Nervous system(4.7)
  • Muscle(2.4)
  • Heart(2.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with TMEM126B: view

No data available for 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 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM126B 30 31
  • 80.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM126B 30 31
  • 80.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem126b 30
  • 73.12 (n)
Mouse
(Mus musculus)
Mammalia Tmem126b 30 17 31
  • 73 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM126B 31
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 25 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 25 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii tmem126a 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.945 31
  • 14 (a)
OneToMany
Species where no ortholog for TMEM126B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM126B: view image

Paralogs for TMEM126B Gene

Paralogs for TMEM126B Gene

(1) SIMAP similar genes for TMEM126B Gene using alignment to 6 proteins:

  • T126B_HUMAN
  • E9PJQ6_HUMAN
  • E9PKZ7_HUMAN
  • E9PKZ9_HUMAN
  • H0YD74_HUMAN
  • H0YEG5_HUMAN

Pseudogenes.org Pseudogenes for TMEM126B Gene

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

Variants for TMEM126B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM126B Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
667503 Benign: not provided 85,628,498(+) G/T GENIC_UPSTREAM_TRANSCRIPT_VARIANT
671602 Benign: not provided 85,628,300(+) C/T FIVE_PRIME_UTR_VARIANT
671603 Benign: not provided 85,629,547(+) C/T INTRON_VARIANT
671604 Benign: not provided 85,631,915(+) T/C INTRON_VARIANT
673800 Benign: not provided 85,628,391(+) G/T GENIC_UPSTREAM_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for TMEM126B Gene

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

(11) MalaCards diseases for TMEM126B Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

T126B_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29) [MIM:618250]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN29 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:27374773, ECO:0000269 PubMed:27374774}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TMEM126B

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

No data available for Genatlas for TMEM126B Gene

Publications for TMEM126B Gene

  1. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. (PMID: 27374773) Sánchez-Caballero L … Rötig A (American journal of human genetics 2016) 3 4
  2. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. (PMID: 27374774) Alston CL … Taylor RW (American journal of human genetics 2016) 3 4
  3. 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
  4. 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
  5. 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 41

Products for TMEM126B Gene

Sources for TMEM126B Gene