TMEM126A cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	TMEM126A
Entrez Gene ID	84233
Full Name	transmembrane protein 126A
Synonyms	OPA7
General protein information	Preferred Names transmembrane protein 126A Names transmembrane protein 126A
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 11 Map Location: 11q14.1
Summary	The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].
Disorder MIM:	612988
Disorder Html:	Optic atrophy 7, 612989 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_032273.3	NP_115649.1	transmembrane protein 126A isoform 1
NM_032273.4	NP_115649.1	transmembrane protein 126A isoform 1
NM_001244735.1	NP_001231664.1	transmembrane protein 126A isoform 2

Pathways from BioSystems

Homologies

	TMEM126A	XP_001100286.1
Canis lupus familiaris (dog)	TMEM126A	XP_005633471.1
Bos taurus (cattle)	TMEM126A	NP_001032697.1
Homo sapiens (human)	TMEM126A	NP_115649.1
Pan troglodytes (chimpanzee)	TMEM126A	XP_508677.1
Gallus gallus (chicken)	TMEM126A	XP_003640643.2
Danio rerio (zebrafish)	tmem126a	NP_957092.1
Mus musculus (house mouse)	Tmem126a	NP_079736.1
Rattus norvegicus (Norway rat)	Tmem126a	NP_001011557.1
Xenopus tropicalis (tropical clawed frog)	tmem126a	NP_989083.1

Gene Ontology
Bibliography

Related articles in PubMed

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Hanein S, Garcia M, Fares-Taie L, Serre V, De Keyzer Y, Delaveau T, Perrault I, Delphin N, Gerber S, Schmitt A, Masse JM, Munnich A, Kaplan J, Devaux F, Rozet JM
Biochimica et biophysica acta1830(6)3719-33(2013 Jun)

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
D?sir J, Coppieters F, Van Regemorter N, De Baere E, Abramowicz M, Cordonnier M
Molecular vision181849-57(2012)

Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ
PloS one5(9)e12862(2010 Sep)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

TMEM126A is a mitochondrial located mRNA (MLR) that may be translated in the mitochondrial surface and the protein is subsequently imported to the inner membrane
Title: TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

The p.Arg55X mutation in TMEM126A, homozygous in all affected siblings and heterozygous in both unaffected parents, has been found in a Moroccan family with autosomal recessive optic atrophy.
Title: TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

The first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy, is described.
Title: Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

TMEM126A encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms.
Title: TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

The following TMEM126A gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the TMEM126A cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu21660	NM_032273.4 Latest version!	Homo sapiens transmembrane protein 126A (TMEM126A), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu55885	NM_001244735.1 Latest version!	Homo sapiens transmembrane protein 126A (TMEM126A), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
View Old Accession Versions >>
OHu21660	NM_032273.3	Homo sapiens transmembrane protein 126A (TMEM126A), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
Hide Old Accession Versions >>

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

TMEM126A ( NM_032273.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_115649.1 Homo sapiens transmembrane protein 126A (TMEM126A), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu21660
Clone ID Related Accession (Same CDS sequence)	NM_032273.3 , NM_032273.4
Accession Version	NM_032273.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 588bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-10-01
Organism	Homo sapiens(human)
Product	transmembrane protein 126A isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB454483.1, AK312081.1 and AP000642.5. This sequence is a reference standard in the RefSeqGene project. On Mar 24, 2010 this sequence version replaced NM_032273.2. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BQ943238.1, BU533835.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 19327736; reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGAAAATC ATAAATCCAA TAATAAGGAA AACATAACAA TTGTTGATAT ATCCAGAAAA 
ATTAACCAGC TTCCAGAAGC AGAAAGGAAT CTACTTGAAA ATGGATCGGT TTATGTTGGA 
TTAAATGCTG CTCTTTGTGG CCTCATAGCA AACAGTCTTT TTCGACGCAT CTTGAATGTG 
ACAAAGGCTC GCATAGCTGC TGGCTTACCA ATGGCAGGGA TACCTTTTCT TACAACAGAC 
TTAACTTACA GATGTTTTGT AAGTTTTCCT TTGAATACAG GTGATTTGGA TTGTGAAACC 
TGTACCATAA CACGGAGTGG ACTGACTGGT CTTGTTATTG GTGGTCTATA CCCTGTTTTC 
TTGGCTATAC CTGTAAATGG TGGTCTAGCA GCCAGGTATC AATCAGCTCT GTTACCACAC 
AAAGGGAACA TCTTAAGTTA CTGGATTAGA ACTTCTAAGC CTGTCTTTAG AAAGATGTTA 
TTTCCTATTT TGCTCCAGAC TATGTTTTCA GCATACCTTG GGTCTGAACA ATATAAACTA 
CTTATAAAGG CCCTTCAGTT ATCTGAACCT GGCAAAGAAA TTCACTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_115649.1
CDS	179..766
Translation	MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNVTKARIAAGLPMAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPHKGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH

Target ORF information:

RefSeq Version	NM_032273.3
Organism	Homo sapiens(human)
Definition	Homo sapiens transmembrane protein 126A (TMEM126A), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_032273.3

ORF Insert Sequence:

ATGGAAAATC ATAAATCCAA TAATAAGGAA AACATAACAA TTGTTGATAT ATCCAGAAAA 
ATTAACCAGC TTCCAGAAGC AGAAAGGAAT CTACTTGAAA ATGGATCGGT TTATGTTGGA 
TTAAATGCTG CTCTTTGTGG CCTCATAGCA AACAGTCTTT TTCGACGCAT CTTGAATGTG 
ACAAAGGCTC GCATAGCTGC TGGCTTACCA ATGGCAGGGA TACCTTTTCT TACAACAGAC 
TTAACTTACA GATGTTTTGT AAGTTTTCCT TTGAATACAG GTGATTTGGA TTGTGAAACC 
TGTACCATAA CACGGAGTGG ACTGACTGGT CTTGTTATTG GTGGTCTATA CCCTGTTTTC 
TTGGCTATAC CTGTAAATGG TGGTCTAGCA GCCAGGTATC AATCAGCTCT GTTACCACAC 
AAAGGGAACA TCTTAAGTTA CTGGATTAGA ACTTCTAAGC CTGTCTTTAG AAAGATGTTA 
TTTCCTATTT TGCTCCAGAC TATGTTTTCA GCATACCTTG GGTCTGAACA ATATAAACTA 
CTTATAAAGG CCCTTCAGTT ATCTGAACCT GGCAAAGAAA TTCACTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

TMEM126A ( NM_032273.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_115649.1 Homo sapiens transmembrane protein 126A (TMEM126A), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu21660
Clone ID Related Accession (Same CDS sequence)	NM_032273.3 , NM_032273.4
Accession Version	NM_032273.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 588bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-13
Organism	Homo sapiens(human)
Product	transmembrane protein 126A isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB454483.1, AK312081.1 and AP000642.5. This sequence is a reference standard in the RefSeqGene project. On Nov 23, 2018 this sequence version replaced NM_032273.3. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.263400.1, SRR5189655.31656.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 19327736; reported by MitoCarta MANE Ensembl match :: ENST00000304511.7/ ENSP00000306887.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGAAAATC ATAAATCCAA TAATAAGGAA AACATAACAA TTGTTGATAT ATCCAGAAAA 
ATTAACCAGC TTCCAGAAGC AGAAAGGAAT CTACTTGAAA ATGGATCGGT TTATGTTGGA 
TTAAATGCTG CTCTTTGTGG CCTCATAGCA AACAGTCTTT TTCGACGCAT CTTGAATGTG 
ACAAAGGCTC GCATAGCTGC TGGCTTACCA ATGGCAGGGA TACCTTTTCT TACAACAGAC 
TTAACTTACA GATGTTTTGT AAGTTTTCCT TTGAATACAG GTGATTTGGA TTGTGAAACC 
TGTACCATAA CACGGAGTGG ACTGACTGGT CTTGTTATTG GTGGTCTATA CCCTGTTTTC 
TTGGCTATAC CTGTAAATGG TGGTCTAGCA GCCAGGTATC AATCAGCTCT GTTACCACAC 
AAAGGGAACA TCTTAAGTTA CTGGATTAGA ACTTCTAAGC CTGTCTTTAG AAAGATGTTA 
TTTCCTATTT TGCTCCAGAC TATGTTTTCA GCATACCTTG GGTCTGAACA ATATAAACTA 
CTTATAAAGG CCCTTCAGTT ATCTGAACCT GGCAAAGAAA TTCACTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_115649.1
CDS	131..718
Translation	MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNVTKARIAAGLPMAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPHKGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH

Target ORF information:

RefSeq Version	NM_032273.4
Organism	Homo sapiens(human)
Definition	Homo sapiens transmembrane protein 126A (TMEM126A), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_032273.4

ORF Insert Sequence:

ATGGAAAATC ATAAATCCAA TAATAAGGAA AACATAACAA TTGTTGATAT ATCCAGAAAA 
ATTAACCAGC TTCCAGAAGC AGAAAGGAAT CTACTTGAAA ATGGATCGGT TTATGTTGGA 
TTAAATGCTG CTCTTTGTGG CCTCATAGCA AACAGTCTTT TTCGACGCAT CTTGAATGTG 
ACAAAGGCTC GCATAGCTGC TGGCTTACCA ATGGCAGGGA TACCTTTTCT TACAACAGAC 
TTAACTTACA GATGTTTTGT AAGTTTTCCT TTGAATACAG GTGATTTGGA TTGTGAAACC 
TGTACCATAA CACGGAGTGG ACTGACTGGT CTTGTTATTG GTGGTCTATA CCCTGTTTTC 
TTGGCTATAC CTGTAAATGG TGGTCTAGCA GCCAGGTATC AATCAGCTCT GTTACCACAC 
AAAGGGAACA TCTTAAGTTA CTGGATTAGA ACTTCTAAGC CTGTCTTTAG AAAGATGTTA 
TTTCCTATTT TGCTCCAGAC TATGTTTTCA GCATACCTTG GGTCTGAACA ATATAAACTA 
CTTATAAAGG CCCTTCAGTT ATCTGAACCT GGCAAAGAAA TTCACTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

TMEM126A ( NM_001244735.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001231664.1 Homo sapiens transmembrane protein 126A (TMEM126A), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu55885
Clone ID Related Accession (Same CDS sequence)	NM_001244735.1
Accession Version	NM_001244735.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 378bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-13
Organism	Homo sapiens(human)
Product	transmembrane protein 126A isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB454483.1, CD366181.1 and BQ943238.1. Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1 by lacking the exon containing the translation start site. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.432271.1, CD366181.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 19327736; reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCAGGGA TACCTTTTCT TACAACAGAC TTAACTTACA GATGTTTTGT AAGTTTTCCT 
TTGAATACAG GTGATTTGGA TTGTGAAACC TGTACCATAA CACGGAGTGG ACTGACTGGT 
CTTGTTATTG GTGGTCTATA CCCTGTTTTC TTGGCTATAC CTGTAAATGG TGGTCTAGCA 
GCCAGGTATC AATCAGCTCT GTTACCACAC AAAGGGAACA TCTTAAGTTA CTGGATTAGA 
ACTTCTAAGC CTGTCTTTAG AAAGATGTTA TTTCCTATTT TGCTCCAGAC TATGTTTTCA 
GCATACCTTG GGTCTGAACA ATATAAACTA CTTATAAAGG CCCTTCAGTT ATCTGAACCT 
GGCAAAGAAA TTCACTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001231664.1
CDS	296..673
Translation	MAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPHKGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH

Target ORF information:

RefSeq Version	NM_001244735.1
Organism	Homo sapiens(human)
Definition	Homo sapiens transmembrane protein 126A (TMEM126A), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001244735.1

ORF Insert Sequence:

ATGGCAGGGA TACCTTTTCT TACAACAGAC TTAACTTACA GATGTTTTGT AAGTTTTCCT 
TTGAATACAG GTGATTTGGA TTGTGAAACC TGTACCATAA CACGGAGTGG ACTGACTGGT 
CTTGTTATTG GTGGTCTATA CCCTGTTTTC TTGGCTATAC CTGTAAATGG TGGTCTAGCA 
GCCAGGTATC AATCAGCTCT GTTACCACAC AAAGGGAACA TCTTAAGTTA CTGGATTAGA 
ACTTCTAAGC CTGTCTTTAG AAAGATGTTA TTTCCTATTT TGCTCCAGAC TATGTTTTCA 
GCATACCTTG GGTCTGAACA ATATAAACTA CTTATAAAGG CCCTTCAGTT ATCTGAACCT 
GGCAAAGAAA TTCACTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Biochimica et biophysica acta1830(6)3719-33(2013 Jun)
Hanein S,Garcia M,Fares-Taie L,Serre V,De Keyzer Y,Delaveau T,Perrault I,Delphin N,Gerber S,Schmitt A,Masse JM,Munnich A,Kaplan J,Devaux F,Rozet JM

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
Molecular vision181849-57(2012)
D?sir J,Coppieters F,Van Regemorter N,De Baere E,Abramowicz M,Cordonnier M

Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
PloS one5(9)e12862(2010 Sep)
Hendrickson SL,Lautenberger JA,Chinn LW,Malasky M,Sezgin E,Kingsley LA,Goedert JJ,Kirk GD,Gomperts ED,Buchbinder SP,Troyer JL,O'Brien SJ

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TMEM126A cDNA ORF clone, Homo sapiens(human)

Gene

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gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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