BHLHA9 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	BHLHA9
Entrez Gene ID	727857
Full Name	basic helix-loop-helix family member a9
Synonyms	BHLHF42,CCSPD
General protein information	Preferred Names basic helix-loop-helix family member a9 Names class A basic helix-loop-helix protein 9 Fingerin class F basic helix-loop-helix factor 42 class II basic helix-loop-helix protein
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 17 Map Location: 17p13.3
Summary	This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015].
Disorder MIM:	615416
Disorder Html:	Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3); ?Camptosynpolydactyly, complex, 607539 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001164405.2	NP_001157877.1	class A basic helix-loop-helix protein 9
NM_001164405.1	NP_001157877.1	class A basic helix-loop-helix protein 9

Pathways from BioSystems

Homologies

Canis lupus familiaris (dog)	BHLHA9	XP_003639331.1
Bos taurus (cattle)	BHLHA9	XP_002695754.1
Rattus norvegicus (Norway rat)	Bhlha9	XP_006246980.1
Pan troglodytes (chimpanzee)	BHLHA9	NP_001230775.1
	BHLHA9	XP_001117259.1
Mus musculus (house mouse)	Bhlha9	NP_796156.3
Homo sapiens (human)	BHLHA9	NP_001157877.1

Gene Ontology
Bibliography

Related articles in PubMed

Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.
Nagata E, Haga N, Fujisawa Y, Fukami M, Nishimura G, Ogata T
American journal of medical genetics. Part A167A(12)3226-8(2015 Dec)

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH
American journal of human genetics95(6)649-59(2014 Dec)

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

Founder triplication of BHLHA9 is associated with femoral-tibial-digital malformations.
Title: Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.

BHLHA9 is identified as an essential player in the regulatory network governing limb morphogenesis in humans.
Title: Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

this is the first study revealing the underlying genetic factor for the development of GWC, and demonstrating the presence of triplications involving BHLHA9
Title: Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.

Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.
Title: Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

BHLHA9 gene contribute to the phenotype of small 17p13.3 chromosomal duplication in Miller-Dieker syndrome
Title: Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.

The following BHLHA9 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the BHLHA9 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)
OHu01764	NM_001164405.2 Latest version!	Homo sapiens basic helix-loop-helix family member a9 (BHLHA9), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	9-11	$139.30 $199.00
View Old Accession Versions >>
OHu01764	NM_001164405.1	Homo sapiens basic helix-loop-helix family member a9 (BHLHA9), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	TBD	$139.30 $199.00
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)

BHLHA9 ( NM_001164405.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_001157877.1 Homo sapiens basic helix-loop-helix family member a9 (BHLHA9), mRNA.

Price & Availability↑

CloneID	OHu01764
Clone ID Related Accession (Same CDS sequence)	NM_001164405.2 , NM_001164405.1
Accession Version	NM_001164405.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 708bp) 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	2019-12-18
Organism	Homo sapiens(human)
Product	class A basic helix-loop-helix protein 9
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC032044.28. This sequence is a reference standard in the RefSeqGene project. On Dec 19, 2019 this sequence version replaced NM_001164405.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: SRR9304715.411703.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

ATGCTGCGGG GCGCGCCAGG ACTAGGCCTC ACGGCGCGGA AGGGGGCCGA GGACTCTGCG 
GAGGACTTGG GGGGCCCCTG CCCCGAGCCC GGGGGCGATT CGGGGGTGCT GGGGGCGAAC 
GGCGCTTCCT GCAGCCGGGG CGAGGCGGAG GAGCCGGCGG GCAGGAGGCG CGCGCGGCCG 
GTGCGGTCCA AGGCGCGGCG CATGGCCGCC AACGTGCGGG AGCGCAAGCG CATCCTAGAC 
TACAACGAGG CCTTCAACGC GCTGCGCCGG GCGCTGCGGC ACGACCTGGG CGGCAAGAGG 
CTCTCCAAGA TCGCCACGCT GCGCAGGGCC ATCCACCGCA TCGCCGCGCT CTCCCTGGTC 
CTGCGCGCCA GCCCCGCGCC CCGCGGGCCC TGCGGACACC TGGAGTGCCA CGGCCCGGCC 
GCGCGCGGGG ACACCGGGGA CACAGGCGCC AGCCCCCCGC CGCCTGCAGG GCCCAGCCTC 
GCGCGCCCAG ACGCCGCCCG CCCCTCGGTG CCGTCCGCGC CCCGCTGCGC CTCGTGCCCC 
CCGCACGCGC CCCTGGCACG GCCCAGTGCG GTGGCCGAGG GGCCGGGCCT AGCACAGGCC 
TCCGGGGGAA GCTGGCGCCG CTGTCCGGGG GCTTCCTCTG CCGGGCCGCC TCCCTGGCCG 
CGGGGCTACC TGCGATCCGC CCCCGGGATG GGCCATCCGC GCTCCTGA

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

RefSeq	NP_001157877.1
CDS	121..828
Translation	MLRGAPGLGLTARKGAEDSAEDLGGPCPEPGGDSGVLGANGASCSRGEAEEPAGRRRARPVRSKARRMAANVRERKRILDYNEAFNALRRALRHDLGGKRLSKIATLRRAIHRIAALSLVLRASPAPRGPCGHLECHGPAARGDTGDTGASPPPPAGPSLARPDAARPSVPSAPRCASCPPHAPLARPSAVAEGPGLAQASGGSWRRCPGASSAGPPPWPRGYLRSAPGMGHPRS

Target ORF information:

RefSeq Version	NM_001164405.2
Organism	Homo sapiens(human)
Definition	Homo sapiens basic helix-loop-helix family member a9 (BHLHA9), mRNA.

Target ORF information:

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

NM_001164405.2

ORF Insert Sequence:

ATGCTGCGGG GCGCGCCAGG ACTAGGCCTC ACGGCGCGGA AGGGGGCCGA GGACTCTGCG 
GAGGACTTGG GGGGCCCCTG CCCCGAGCCC GGGGGCGATT CGGGGGTGCT GGGGGCGAAC 
GGCGCTTCCT GCAGCCGGGG CGAGGCGGAG GAGCCGGCGG GCAGGAGGCG CGCGCGGCCG 
GTGCGGTCCA AGGCGCGGCG CATGGCCGCC AACGTGCGGG AGCGCAAGCG CATCCTAGAC 
TACAACGAGG CCTTCAACGC GCTGCGCCGG GCGCTGCGGC ACGACCTGGG CGGCAAGAGG 
CTCTCCAAGA TCGCCACGCT GCGCAGGGCC ATCCACCGCA TCGCCGCGCT CTCCCTGGTC 
CTGCGCGCCA GCCCCGCGCC CCGCGGGCCC TGCGGACACC TGGAGTGCCA CGGCCCGGCC 
GCGCGCGGGG ACACCGGGGA CACAGGCGCC AGCCCCCCGC CGCCTGCAGG GCCCAGCCTC 
GCGCGCCCAG ACGCCGCCCG CCCCTCGGTG CCGTCCGCGC CCCGCTGCGC CTCGTGCCCC 
CCGCACGCGC CCCTGGCACG GCCCAGTGCG GTGGCCGAGG GGCCGGGCCT AGCACAGGCC 
TCCGGGGGAA GCTGGCGCCG CTGTCCGGGG GCTTCCTCTG CCGGGCCGCC TCCCTGGCCG 
CGGGGCTACC TGCGATCCGC CCCCGGGATG GGCCATCCGC GCTCCTGA

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

BHLHA9 ( NM_001164405.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001157877.1 Homo sapiens basic helix-loop-helix family member a9 (BHLHA9), mRNA.

Price & Availability↑

CloneID	OHu01764
Clone ID Related Accession (Same CDS sequence)	NM_001164405.2 , NM_001164405.1
Accession Version	NM_001164405.1	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 708bp) 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	2019-04-30
Organism	Homo sapiens(human)
Product	class A basic helix-loop-helix protein 9
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC032044.28. This sequence is a reference standard in the RefSeqGene project. On Aug 25, 2009 this sequence version replaced XM_001125971.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

ATGCTGCGGG GCGCGCCAGG ACTAGGCCTC ACGGCGCGGA AGGGGGCCGA GGACTCTGCG 
GAGGACTTGG GGGGCCCCTG CCCCGAGCCC GGGGGCGATT CGGGGGTGCT GGGGGCGAAC 
GGCGCTTCCT GCAGCCGGGG CGAGGCGGAG GAGCCGGCGG GCAGGAGGCG CGCGCGGCCG 
GTGCGGTCCA AGGCGCGGCG CATGGCCGCC AACGTGCGGG AGCGCAAGCG CATCCTAGAC 
TACAACGAGG CCTTCAACGC GCTGCGCCGG GCGCTGCGGC ACGACCTGGG CGGCAAGAGG 
CTCTCCAAGA TCGCCACGCT GCGCAGGGCC ATCCACCGCA TCGCCGCGCT CTCCCTGGTC 
CTGCGCGCCA GCCCCGCGCC CCGCGGGCCC TGCGGACACC TGGAGTGCCA CGGCCCGGCC 
GCGCGCGGGG ACACCGGGGA CACAGGCGCC AGCCCCCCGC CGCCTGCAGG GCCCAGCCTC 
GCGCGCCCAG ACGCCGCCCG CCCCTCGGTG CCGTCCGCGC CCCGCTGCGC CTCGTGCCCC 
CCGCACGCGC CCCTGGCACG GCCCAGTGCG GTGGCCGAGG GGCCGGGCCT AGCACAGGCC 
TCCGGGGGAA GCTGGCGCCG CTGTCCGGGG GCTTCCTCTG CCGGGCCGCC TCCCTGGCCG 
CGGGGCTACC TGCGATCCGC CCCCGGGATG GGCCATCCGC GCTCCTGA

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

RefSeq	NP_001157877.1
CDS	1..708
Translation	MLRGAPGLGLTARKGAEDSAEDLGGPCPEPGGDSGVLGANGASCSRGEAEEPAGRRRARPVRSKARRMAANVRERKRILDYNEAFNALRRALRHDLGGKRLSKIATLRRAIHRIAALSLVLRASPAPRGPCGHLECHGPAARGDTGDTGASPPPPAGPSLARPDAARPSVPSAPRCASCPPHAPLARPSAVAEGPGLAQASGGSWRRCPGASSAGPPPWPRGYLRSAPGMGHPRS

Target ORF information:

RefSeq Version	NM_001164405.1
Organism	Homo sapiens(human)
Definition	Homo sapiens basic helix-loop-helix family member a9 (BHLHA9), mRNA.

Target ORF information:

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

NM_001164405.1

ORF Insert Sequence:

ATGCTGCGGG GCGCGCCAGG ACTAGGCCTC ACGGCGCGGA AGGGGGCCGA GGACTCTGCG 
GAGGACTTGG GGGGCCCCTG CCCCGAGCCC GGGGGCGATT CGGGGGTGCT GGGGGCGAAC 
GGCGCTTCCT GCAGCCGGGG CGAGGCGGAG GAGCCGGCGG GCAGGAGGCG CGCGCGGCCG 
GTGCGGTCCA AGGCGCGGCG CATGGCCGCC AACGTGCGGG AGCGCAAGCG CATCCTAGAC 
TACAACGAGG CCTTCAACGC GCTGCGCCGG GCGCTGCGGC ACGACCTGGG CGGCAAGAGG 
CTCTCCAAGA TCGCCACGCT GCGCAGGGCC ATCCACCGCA TCGCCGCGCT CTCCCTGGTC 
CTGCGCGCCA GCCCCGCGCC CCGCGGGCCC TGCGGACACC TGGAGTGCCA CGGCCCGGCC 
GCGCGCGGGG ACACCGGGGA CACAGGCGCC AGCCCCCCGC CGCCTGCAGG GCCCAGCCTC 
GCGCGCCCAG ACGCCGCCCG CCCCTCGGTG CCGTCCGCGC CCCGCTGCGC CTCGTGCCCC 
CCGCACGCGC CCCTGGCACG GCCCAGTGCG GTGGCCGAGG GGCCGGGCCT AGCACAGGCC 
TCCGGGGGAA GCTGGCGCCG CTGTCCGGGG GCTTCCTCTG CCGGGCCGCC TCCCTGGCCG 
CGGGGCTACC TGCGATCCGC CCCCGGGATG GGCCATCCGC GCTCCTGA

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

PubMed

Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.
American journal of medical genetics. Part A167A(12)3226-8(2015 Dec)
Nagata E,Haga N,Fujisawa Y,Fukami M,Nishimura G,Ogata T

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
American journal of human genetics95(6)649-59(2014 Dec)
Malik S,Percin FE,Bornholdt D,Albrecht B,Percesepe A,Koch MC,Landi A,Fritz B,Khan R,Mumtaz S,Akarsu NA,Grzeschik KH

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BHLHA9 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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