×

MAB21L2 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol MAB21L2
Entrez Gene ID 10586
Full Name mab-21 like 2
Synonyms MCOPS14,MCSKS14
General protein information
Preferred Names

mab-21 like 2

Names

protein mab-21-like 2

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

4

4q31.3

Summary This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008].
Disorder MIM:

604357


mRNA and Protein(s)

mRNA Protein Name
NM_006439.4 NP_006430.1 protein mab-21-like 2



Xenopus tropicalis (tropical clawed frog) mab21l2 NP_001096455.1
Macaca mulatta (rhesus monkey) MAB21L2 XP_001082398.1
Anopheles gambiae (African malaria mosquito) MB21L_ANOGA XP_309230.3
Homo sapiens (human) MAB21L2 NP_006430.1
Pan troglodytes (chimpanzee) MAB21L2 XP_001151747.1
Bos taurus (cattle) MAB21L2 XP_002694365.1
Mus musculus (house mouse) Mab21l2 NP_035969.2
Canis lupus familiaris (dog) MAB21L2 XP_867530.2
Rattus norvegicus (Norway rat) Mab21l2 NP_001102861.1
Danio rerio (zebrafish) mab21l2 NP_694507.1
Drosophila melanogaster (fruit fly) CG4766 NP_572287.1


Related articles in PubMed

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
Horn D, Prescott T, Houge G, Brække K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J
European journal of medical genetics58(8)387-91(2015 Aug)

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV
PLoS genetics11(2)e1005002(2015)

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A, , , Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR
American journal of human genetics94(6)915-23(2014 Jun)

Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development.
Mariani M, Baldessari D, Francisconi S, Viggiano L, Rocchi M, Zappavigna V, Malgaretti N, Consalez GG
Human molecular genetics8(13)2397-406(1999 Dec)

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

The two unrelated individuals with a novel oculo-skeletal syndrome with intellectual disability described are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2.
Title: A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.

These findings support the identification of MAB21L2 as a novel factor involved in human coloboma and highlight the power of genome editing manipulation in model organisms for analysis of the effects of whole exome variation in humans.
Title: Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

This report provides compelling human genomic and genetic evidence that mutations in MAB21L2 cause major eye malformations.
Title: Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

The following MAB21L2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MAB21L2 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.

Online Only Promotion

Up to 50% OFF! Starting
from $49/clone

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu31799 NM_006439.4
Latest version!
Homo sapiens mab-21 like 2 (MAB21L2), mRNA. pcDNA3.1+/C-(K)DYK or customized vector 5-7 $265.30
$379.00

ORF Online Only Promotion

Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** 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.


CloneID OHu31799
Clone ID Related Accession (Same CDS sequence) NM_006439.4
Accession Version NM_006439.4 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1080bp)
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 2016-10-06
Organism Homo sapiens(Human)
Product protein mab-21-like 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC110813.4 and BC009983.2. This sequence is a reference standard in the RefSeqGene project. On Aug 1, 2008 this sequence version replaced NM_006439.3. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this RefSeq transcript is supported by transcript alignments. COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
ATGATCGCCG CTCAGGCCAA GCTGGTTTAC CAGCTCAATA AGTACTACAC TGAGCGCTGT 
CAGGCGCGCA AGGCGGCCAT CGCCAAAACC ATCCGAGAGG TCTGTAAGGT GGTCTCGGAC
GTGCTCAAGG AAGTGGAGGT GCAGGAGCCT CGCTTCATCA GCTCCTTGAG CGAGATCGAT
GCCCGCTACG AGGGGCTCGA GGTCATTTCG CCCACCGAAT TTGAGGTGGT GCTCTACCTA
AACCAGATGG GCGTCTTCAA CTTCGTGGAC GACGGCTCGC TGCCCGGCTG CGCAGTGCTC
AAACTGAGCG ATGGGCGGAA GCGGAGCATG TCTCTCTGGG TCGAGTTCAT CACGGCGTCG
GGCTATCTCT CAGCGCGTAA GATCCGCTCG CGTTTCCAGA CGCTGGTGGC CCAGGCGGTG
GACAAGTGCA GCTATCGGGA TGTGGTCAAG ATGATCGCGG ACACCAGCGA GGTCAAGTTG
CGCATCAGGG AGCGCTATGT GGTGCAAATC ACTCCGGCGT TCAAGTGCAC CGGGATCTGG
CCTCGCAGCG CGGCACAGTG GCCTATGCCC CACATCCCTT GGCCCGGCCC CAATCGGGTG
GCCGAGGTCA AGGCCGAAGG GTTCAACTTG CTCTCGAAGG AGTGCTACTC GCTGACCGGC
AAGCAGAGCT CGGCAGAGAG CGACGCCTGG GTGCTACAGT TCGGGGAGGC GGAGAACCGC
CTGCTGATGG GCGGCTGCCG AAACAAGTGC CTCTCAGTGC TGAAGACTCT GCGGGACCGC
CACCTGGAGC TACCCGGCCA GCCGCTCAAC AACTACCACA TGAAGACGCT GCTGCTGTAC
GAGTGCGAGA AACACCCACG AGAAACGGAC TGGGACGAGT CGTGCCTGGG CGACCGGCTC
AACGGCATCC TGCTGCAGCT CATCTCCTGC CTGCAGTGCC GCCGCTGCCC TCACTACTTT
CTGCCCAACC TCGACCTCTT TCAGGGCAAG CCCCATTCGG CCCTGGAGAG CGCTGCCAAG
CAGACCTGGA GGTTGGCCAG GGAAATTCTC ACCAATCCCA AAAGCCTGGA CAAACTATAG

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

RefSeq NP_006430.1
CDS1106..2185
Misc Feature(1)1043..1045
Misc Feature(2)1289..2137
Exon (1)1..2769
Translation

Target ORF information:

RefSeq Version NM_006439.4
Organism Homo sapiens(Human)
Definition Homo sapiens mab-21 like 2 (MAB21L2), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_006439.4

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
ATGATCGCCG CTCAGGCCAA GCTGGTTTAC CAGCTCAATA AGTACTACAC TGAGCGCTGT 
CAGGCGCGCA AGGCGGCCAT CGCCAAAACC ATCCGAGAGG TCTGTAAGGT GGTCTCGGAC
GTGCTCAAGG AAGTGGAGGT GCAGGAGCCT CGCTTCATCA GCTCCTTGAG CGAGATCGAT
GCCCGCTACG AGGGGCTCGA GGTCATTTCG CCCACCGAAT TTGAGGTGGT GCTCTACCTA
AACCAGATGG GCGTCTTCAA CTTCGTGGAC GACGGCTCGC TGCCCGGCTG CGCAGTGCTC
AAACTGAGCG ATGGGCGGAA GCGGAGCATG TCTCTCTGGG TCGAGTTCAT CACGGCGTCG
GGCTATCTCT CAGCGCGTAA GATCCGCTCG CGTTTCCAGA CGCTGGTGGC CCAGGCGGTG
GACAAGTGCA GCTATCGGGA TGTGGTCAAG ATGATCGCGG ACACCAGCGA GGTCAAGTTG
CGCATCAGGG AGCGCTATGT GGTGCAAATC ACTCCGGCGT TCAAGTGCAC CGGGATCTGG
CCTCGCAGCG CGGCACAGTG GCCTATGCCC CACATCCCTT GGCCCGGCCC CAATCGGGTG
GCCGAGGTCA AGGCCGAAGG GTTCAACTTG CTCTCGAAGG AGTGCTACTC GCTGACCGGC
AAGCAGAGCT CGGCAGAGAG CGACGCCTGG GTGCTACAGT TCGGGGAGGC GGAGAACCGC
CTGCTGATGG GCGGCTGCCG AAACAAGTGC CTCTCAGTGC TGAAGACTCT GCGGGACCGC
CACCTGGAGC TACCCGGCCA GCCGCTCAAC AACTACCACA TGAAGACGCT GCTGCTGTAC
GAGTGCGAGA AACACCCACG AGAAACGGAC TGGGACGAGT CGTGCCTGGG CGACCGGCTC
AACGGCATCC TGCTGCAGCT CATCTCCTGC CTGCAGTGCC GCCGCTGCCC TCACTACTTT
CTGCCCAACC TCGACCTCTT TCAGGGCAAG CCCCATTCGG CCCTGGAGAG CGCTGCCAAG
CAGACCTGGA GGTTGGCCAG GGAAATTCTC ACCAATCCCA AAAGCCTGGA CAAACTATAG

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

book

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
European journal of medical genetics58(8)387-91(2015 Aug)
Horn D,Prescott T,Houge G,Brække K,Rosendahl K,Nishimura G,FitzPatrick DR,Spranger J


book

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
PLoS genetics11(2)e1005002(2015)
Deml B,Kariminejad A,Borujerdi RH,Muheisen S,Reis LM,Semina EV


book

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
American journal of human genetics94(6)915-23(2014 Jun)
Rainger J,Pehlivan D,Johansson S,Bengani H,Sanchez-Pulido L,Williamson KA,Ture M,Barker H,Rosendahl K,Spranger J,Horn D,Meynert A,Floyd JA,Prescott T,Anderson CA,Rainger JK,Karaca E,Gonzaga-Jauregui C,Jhangiani S,Muzny DM,Seawright A,Soares DC,Kharbanda M,Murday V,Finch A,,,Gibbs RA,van Heyningen V,Taylor MS,Yakut T,Knappskog PM,Hurles ME,Ponting CP,Lupski JR,Houge G,FitzPatrick DR


book

Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development.
Human molecular genetics8(13)2397-406(1999 Dec)
Mariani M,Baldessari D,Francisconi S,Viggiano L,Rocchi M,Zappavigna V,Malgaretti N,Consalez GG


 
*
*
*
*