Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55863
Gene name	Transmembrane protein 126B
Gene symbol	TMEM126B
Synonyms (NCBI Gene)	HT007MC1DN29
Chromosome	11
Chromosome location	11q14.1
Summary	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

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141542003	G>T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs573006534	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs886037835	A>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs886037857	C>T	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant

Show/Hide all (99)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039977	hsa-miR-615-3p	CLASH	23622248
MIRT039977	hsa-miR-615-3p	CLASH	23622248
MIRT482764	hsa-miR-34b-3p	PAR-CLIP	23592263
MIRT482765	hsa-miR-6800-3p	PAR-CLIP	23592263
MIRT482763	hsa-miR-1306-5p	PAR-CLIP	23592263
MIRT482762	hsa-miR-3690	PAR-CLIP	23592263
MIRT482761	hsa-miR-4254	PAR-CLIP	23592263
MIRT482760	hsa-miR-3653-5p	PAR-CLIP	23592263
MIRT482759	hsa-miR-1976	PAR-CLIP	23592263
MIRT482758	hsa-miR-6845-3p	PAR-CLIP	23592263
MIRT482757	hsa-miR-4424	PAR-CLIP	23592263
MIRT482756	hsa-miR-3201	PAR-CLIP	23592263
MIRT482755	hsa-miR-4791	PAR-CLIP	23592263
MIRT482764	hsa-miR-34b-3p	PAR-CLIP	23592263
MIRT482765	hsa-miR-6800-3p	PAR-CLIP	23592263
MIRT482763	hsa-miR-1306-5p	PAR-CLIP	23592263
MIRT482762	hsa-miR-3690	PAR-CLIP	23592263
MIRT482761	hsa-miR-4254	PAR-CLIP	23592263
MIRT482760	hsa-miR-3653-5p	PAR-CLIP	23592263
MIRT482759	hsa-miR-1976	PAR-CLIP	23592263
MIRT482758	hsa-miR-6845-3p	PAR-CLIP	23592263
MIRT482757	hsa-miR-4424	PAR-CLIP	23592263
MIRT482756	hsa-miR-3201	PAR-CLIP	23592263
MIRT482755	hsa-miR-4791	PAR-CLIP	23592263
MIRT1430417	hsa-miR-124	CLIP-seq
MIRT1430418	hsa-miR-4645-5p	CLIP-seq
MIRT1430419	hsa-miR-4673	CLIP-seq
MIRT1430420	hsa-miR-4742-5p	CLIP-seq
MIRT1430421	hsa-miR-506	CLIP-seq
MIRT1430422	hsa-miR-548an	CLIP-seq
MIRT1430423	hsa-miR-128	CLIP-seq
MIRT1430424	hsa-miR-27a	CLIP-seq
MIRT1430425	hsa-miR-27b	CLIP-seq
MIRT1430426	hsa-miR-3125	CLIP-seq
MIRT1430427	hsa-miR-3692	CLIP-seq
MIRT1430428	hsa-miR-375	CLIP-seq
MIRT1430429	hsa-miR-3908	CLIP-seq
MIRT1430430	hsa-miR-3909	CLIP-seq
MIRT1430431	hsa-miR-3916	CLIP-seq
MIRT1430432	hsa-miR-4291	CLIP-seq
MIRT1430433	hsa-miR-4764-3p	CLIP-seq
MIRT1430434	hsa-miR-513a-5p	CLIP-seq
MIRT1430435	hsa-miR-520d-5p	CLIP-seq
MIRT1430436	hsa-miR-524-5p	CLIP-seq
MIRT1430437	hsa-miR-545	CLIP-seq
MIRT1430438	hsa-miR-583	CLIP-seq
MIRT1430439	hsa-miR-618	CLIP-seq
MIRT1430440	hsa-miR-935	CLIP-seq
MIRT1430441	hsa-miR-944	CLIP-seq
MIRT2128969	hsa-miR-329	CLIP-seq
MIRT2128970	hsa-miR-362-3p	CLIP-seq
MIRT1430418	hsa-miR-4645-5p	CLIP-seq
MIRT1430419	hsa-miR-4673	CLIP-seq
MIRT2128971	hsa-miR-4694-3p	CLIP-seq
MIRT2128972	hsa-miR-4698	CLIP-seq
MIRT1430420	hsa-miR-4742-5p	CLIP-seq
MIRT2350630	hsa-miR-4738-3p	CLIP-seq
MIRT1430441	hsa-miR-944	CLIP-seq
MIRT2644132	hsa-miR-1243	CLIP-seq
MIRT2644133	hsa-miR-3117-5p	CLIP-seq
MIRT2644134	hsa-miR-3145-3p	CLIP-seq
MIRT2128969	hsa-miR-329	CLIP-seq
MIRT2128970	hsa-miR-362-3p	CLIP-seq
MIRT2644135	hsa-miR-3667-5p	CLIP-seq
MIRT2644136	hsa-miR-4426	CLIP-seq
MIRT2644137	hsa-miR-4433	CLIP-seq
MIRT2644138	hsa-miR-4452	CLIP-seq
MIRT2644139	hsa-miR-4459	CLIP-seq
MIRT1430418	hsa-miR-4645-5p	CLIP-seq
MIRT2644140	hsa-miR-4647	CLIP-seq
MIRT2644141	hsa-miR-4662b	CLIP-seq
MIRT1430419	hsa-miR-4673	CLIP-seq
MIRT2128971	hsa-miR-4694-3p	CLIP-seq
MIRT2128972	hsa-miR-4698	CLIP-seq
MIRT2350630	hsa-miR-4738-3p	CLIP-seq
MIRT1430420	hsa-miR-4742-5p	CLIP-seq
MIRT2644142	hsa-miR-4768-3p	CLIP-seq
MIRT2644143	hsa-miR-4795-3p	CLIP-seq
MIRT2644144	hsa-miR-496	CLIP-seq
MIRT1430441	hsa-miR-944	CLIP-seq
MIRT2644132	hsa-miR-1243	CLIP-seq
MIRT2644133	hsa-miR-3117-5p	CLIP-seq
MIRT2644134	hsa-miR-3145-3p	CLIP-seq
MIRT2128969	hsa-miR-329	CLIP-seq
MIRT2128970	hsa-miR-362-3p	CLIP-seq
MIRT2644135	hsa-miR-3667-5p	CLIP-seq
MIRT2644136	hsa-miR-4426	CLIP-seq
MIRT2644137	hsa-miR-4433	CLIP-seq
MIRT2644139	hsa-miR-4459	CLIP-seq
MIRT1430418	hsa-miR-4645-5p	CLIP-seq
MIRT2644140	hsa-miR-4647	CLIP-seq
MIRT2644141	hsa-miR-4662b	CLIP-seq
MIRT1430419	hsa-miR-4673	CLIP-seq
MIRT2128971	hsa-miR-4694-3p	CLIP-seq
MIRT2128972	hsa-miR-4698	CLIP-seq
MIRT2350630	hsa-miR-4738-3p	CLIP-seq
MIRT1430420	hsa-miR-4742-5p	CLIP-seq
MIRT2644142	hsa-miR-4768-3p	CLIP-seq
MIRT2644143	hsa-miR-4795-3p	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 33753518
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	32320651
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0007005	Process	Mitochondrion organization	IEA
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032094	Process	Response to food	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	27374773
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	NAS	32320651

MIM	HGNC	e!Ensembl
615533	30883	ENSG00000171204

Q8IUX1

Protein name

Complex I assembly factor TMEM126B, mitochondrial (Transmembrane protein 126B)

Protein function

As part of the MCIA complex, involved in the assembly of the mitochondrial complex I (PubMed:27374773, PubMed:27374774, PubMed:32320651). Participates in constructing the membrane arm of complex I (PubMed:24191001). {ECO:0000269|PubMed:24191001,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07114	TMEM126	51 → 228	Transmembrane protein 126	Family

Sequence

MVVFGYEAGTKPRDSGVVPVGTEEAPKVFKMAASMHGQPSPSLEDAKLRRPMVIEIIEKN
FDYLRKEMTQNIYQMATFGTTAGFSGIFSNFLFRRCFKVKHDALKTYASLATLPFLSTVV
TDKLFVIDALYSDNISKENCVFRSSLIGIVCGVFYPSSLAFTKNGRLATKYHTVPLPPKG
RVLIHWMTLCQTQMKLMAIPLVFQIMFGILNGLYHYAVFEETLEKTIHEE

Sequence length

230

Interactions

View interactions

	Reactome
			Complex I biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs573006534	RCV005891087	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency	Likely pathogenic; Pathogenic	rs141542003	RCV004017529	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs752316853	RCV001335007	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 29	Likely pathogenic; Pathogenic	rs752316853, rs747181703, rs886037835, rs141542003, rs573006534, rs886037857, rs767065263, rs764565613	RCV001780257 RCV001824194 RCV000239553 RCV000239528 RCV000239580 RCV000239501 RCV004796803 RCV001329079 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease	Pathogenic; Likely pathogenic	rs886037835, rs141542003	RCV000240613 RCV000240617	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TMEM126B-related disorder	Likely pathogenic	rs767065263	RCV003405807	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	27374774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	27374774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30580996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30580996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29464284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	27374774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	36482121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30580996, 31178133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	27374773, 27374774		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	27374773, 27374774, 36482121	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	27374773, 27374774		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29	Mitochondrial Complex Deficiency	UNIPROT_DG	27374773, 27374774		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27290639, 27374774, 36482121	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27374774		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	CLINVAR_DG	27374774		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	27374774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38052461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TMEM126B (transmembrane protein 126B)