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PHOX2A paired-like homeobox 2a [Homo sapiens (human)]

Gene Symbol PHOX2A
Entrez Gene ID 401
Full Name paired-like homeobox 2a
Synonyms ARIX, CFEOM2, FEOM2, NCAM2, PMX2A
General protein information
Preferred Names
paired mesoderm homeobox protein 2A
Names
paired mesoderm homeobox protein 2A
arix homeodomain protein
ARIX1 homeodomain protein
aristaless homeobox homolog
aristaless homeobox protein homolog
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q13.2

Summary The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]. lac of sum
Disorder MIM:

602753

Disorder Html: Fibrosis of extraocular muscles, congenital, 2, 602078 (3)





The following PHOX2A gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PHOX2A gene 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 RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu18020 NM_005169 Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$216.3
$309

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


CloneID OHu18020
Accession Version NM_005169.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 855bp)
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 COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product paired mesoderm homeobox protein 2A
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK290645.1 and BC041564.1. This sequence is a reference standard in the RefSeqGene project. On May 20, 2008 this sequence version replaced gi:46249381. Summary: The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]. 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 exon combination :: BC041564.1, BX376662.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGACTACT CCTACCTCAA TTCGTACGAC TCGTGCGTGG CGGCCATGGA GGCGTCCGCC 
TACGGCGACT TTGGCGCCTG CAGCCAGCCC GGCGGCTTCC AATACAGCCC CCTGCGGCCC
GCTTTCCCCG CGGCAGGGCC GCCCTGCCCC GCGCTCGGCT CCTCCAACTG CGCACTTGGC
GCCCTACGCG ACCACCAGCC CGCGCCCTAC TCGGCAGTGC CCTACAAGTT CTTCCCAGAG
CCATCCGGCC TGCACGAGAA GCGCAAGCAG CGGCGCATCC GCACCACGTT CACCAGCGCG
CAGCTCAAGG AGCTGGAGCG CGTTTTCGCT GAGACCCACT ACCCCGACAT TTACACGCGT
GAGGAGCTGG CGCTCAAGAT CGACCTCACT GAGGCTCGCG TGCAGGTCTG GTTCCAGAAC
CGCCGGGCCA AGTTCCGCAA ACAGGAGCGC GCGGCCAGCG CCAAGGGCGC GGCGGGCGCG
GCGGGCGCCA AAAAGGGCGA GGCGCGCTGC TCCTCCGAGG ACGACGATTC CAAGGAGTCC
ACGTGCAGCC CCACGCCCGA TAGCACCGCC TCGCTGCCGC CGCCGCCTGC GCCCGGCCTG
GCCAGCCCGC GCCTGAGCCC CAGCCCGCTG CCCGTCGCAC TGGGCTCCGG GCCGGGACCT
GGGCCGGGGC CACAGCCGCT CAAGGGCGCA CTGTGGGCCG GTGTGGCGGG CGGTGGGGGC
GGCGGGCCTG GCGCGGGAGC GGCCGAACTA CTTAAGGCTT GGCAGCCGGC GGAGTCCGGC
CCCGGGCCCT TCTCCGGGGT TCTGTCCTCC TTTCACCGGA AGCCCGGCCC CGCCCTGAAG
ACCAATCTCT TCTAG
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_005160.2
CDS173..1027
Misc Feature(1)20..22(+)
Misc Feature(2)443..619(+)
Misc Feature(3)443..613(+)
Misc Feature(4)449..601(+)
Exon (1)1..389
Gene:PHOX2A
Gene Synonym:
Exon (2)390..577
Gene:PHOX2A
Gene Synonym:
Exon (3)578..1699
Gene:PHOX2A
Gene Synonym:
Translation
Position Chain Variation Link
110 110 c, t dbSNP:536218180
123 123 c, t dbSNP:200284055
136 136 -, cgaccc dbSNP:758309430
141 141 c, t dbSNP:557008444
149 149 c, t dbSNP:752864269
153 153 c, t dbSNP:766224175
154 154 a, g dbSNP:140850664
156 156 c, g dbSNP:750391869
161 161 c, t dbSNP:767414373
164 164 c, g, t dbSNP:774045627
166 166 a, c dbSNP:763677231
204 204 c, t dbSNP:762717173
205 205 c, g dbSNP:774965515
207 207 -, g dbSNP:745709735
219 219 a, c, g, t dbSNP:777047193
220 220 c, g dbSNP:771380172
229 229 a, c dbSNP:747489685
235 235 c, t dbSNP:777850396
238 238 c, t dbSNP:758428790
250 250 c, t dbSNP:748370835
260 260 c, g dbSNP:778949321
262 262 c, t dbSNP:755219214
264 264 a, g dbSNP:750255258
290 290 c, t dbSNP:781012132
296 296 g, t dbSNP:757314327
328 328 c, t dbSNP:182932220
344 344 g, t dbSNP:763728508
346 346 a, c dbSNP:762486727
356 356 c, g dbSNP:12787525
364 364 c, t dbSNP:752238341
373 373 c, g dbSNP:374332283
374 374 c, g dbSNP:764865688
387 387 c, t dbSNP:104894269
391 391 a, g dbSNP:770864097
406 406 c, t dbSNP:746865501
417 417 c, g dbSNP:777678122
422 422 c, t dbSNP:758316721
425 425 c, t dbSNP:148937033
428 428 c, g dbSNP:145702565
434 434 a, c, g dbSNP:370435269
442 442 a, g dbSNP:766081136
445 445 a, g dbSNP:145380401
449 449 a, c dbSNP:750831247
464 464 a, g dbSNP:767850424
475 475 a, g dbSNP:762249284
479 479 a, g dbSNP:774881202
481 481 a, g dbSNP:764087245
493 493 a, c dbSNP:763033368
501 501 c, t dbSNP:775706276
502 502 g, t dbSNP:770179188
504 504 a, g dbSNP:545021626
506 506 a, t dbSNP:577206882
510 510 a, c dbSNP:771856914
519 519 a, c dbSNP:748036118
520 520 c, t dbSNP:376482990
528 528 c, t dbSNP:754855249
545 545 c, t dbSNP:559070400
553 553 c, t dbSNP:779510953
569 569 c, t dbSNP:755816300
577 577 a, g dbSNP:750032462
599 599 g, t dbSNP:745524146
652 652 -, ggcgggcgc dbSNP:200556921
655 655 a, g dbSNP:561608535
656 656 a, g dbSNP:756847839
660 660 -, ggcgggcgc dbSNP:775605146
672 672 a, g dbSNP:749817345
674 674 a, g dbSNP:751993661
676 676 g, t dbSNP:777975959
697 697 a, c dbSNP:773687701
730 730 a, c dbSNP:758995593
748 748 a, g dbSNP:753214527
750 750 c, t dbSNP:765408975
757 757 -, gcc dbSNP:745799681
772 772 c, g dbSNP:759626324
848 848 a, c dbSNP:753951866
865 865 g, t dbSNP:543638620
869 869 a, g dbSNP:760780805
886 886 g, t dbSNP:774253971
937 937 g, t dbSNP:768291497
940 940 a, g dbSNP:762912541
943 943 g, t dbSNP:775340799
945 945 a, t dbSNP:769308284
950 950 a, g dbSNP:745442750
951 951 a, g dbSNP:780563989
963 963 g, t dbSNP:770665117
965 965 c, t dbSNP:746592765
971 971 a, c, g dbSNP:758767848
976 976 a, g dbSNP:753265894
990 990 a, g dbSNP:779617832
992 992 a, c dbSNP:755534664
994 994 a, g dbSNP:556502658
1004 1004 a, g dbSNP:766349697
1009 1009 g, t dbSNP:760983326
1010 1010 a, t dbSNP:750573956
1014 1014 c, t dbSNP:763955171
1017 1017 a, g dbSNP:576149067
1021 1021 c, g dbSNP:374198327
1031 1031 c, t dbSNP:765227478
1032 1032 c, g dbSNP:759445748
1045 1045 c, t dbSNP:776226350
1048 1048 c, g dbSNP:770306817
1055 1055 a, g dbSNP:369751238
1057 1057 a, c dbSNP:772678851
1058 1058 a, c dbSNP:771833027
1059 1059 c, t dbSNP:748586618
1061 1061 a, c dbSNP:779387840
1070 1070 c, t dbSNP:755594252
1073 1073 g, t dbSNP:749713034
1132 1132 a, g dbSNP:557886516
1143 1143 c, t dbSNP:546127396
1155 1155 c, t dbSNP:572334059
1199 1199 c, t dbSNP:375530553
1207 1207 c, t dbSNP:535827778
1220 1220 -, t dbSNP:760413369
1287 1287 c, g dbSNP:568574340
1305 1305 c, t dbSNP:532351081
1325 1325 c, t dbSNP:556372556
1334 1334 a, c dbSNP:772447767
1363 1363 a, g dbSNP:538477733
1365 1365 a, c dbSNP:570961990
1400 1400 a, c dbSNP:372904530
1410 1410 g, t dbSNP:56787483
1424 1424 a, g dbSNP:527993875
1430 1430 a, g dbSNP:80340347
1437 1437 c, t dbSNP:547019491
1439 1439 a, c dbSNP:571526828
1453 1453 c, g dbSNP:745553282
1524 1524 c, t dbSNP:550093403
1620 1620 -, t dbSNP:561489109
1668 1668 c, t dbSNP:770592288
1681 1681 -, actt dbSNP:70940830

Target ORF information:

RefSeq Version NM_005169
Organism Homo sapiens (human)
Definition Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_005169

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGACTACT CCTACCTCAA TTCGTACGAC TCGTGCGTGG CGGCCATGGA GGCGTCCGCC 
TACGGCGACT TTGGCGCCTG CAGCCAGCCC GGCGGCTTCC AATACAGCCC CCTGCGGCCC
GCTTTCCCCG CGGCAGGGCC GCCCTGCCCC GCGCTCGGCT CCTCCAACTG CGCACTTGGC
GCCCTACGCG ACCACCAGCC CGCGCCCTAC TCGGCAGTGC CCTACAAGTT CTTCCCAGAG
CCATCCGGCC TGCACGAGAA GCGCAAGCAG CGGCGCATCC GCACCACGTT CACCAGCGCG
CAGCTCAAGG AGCTGGAGCG CGTTTTCGCT GAGACCCACT ACCCCGACAT TTACACGCGT
GAGGAGCTGG CGCTCAAGAT CGACCTCACT GAGGCTCGCG TGCAGGTCTG GTTCCAGAAC
CGCCGGGCCA AGTTCCGCAA ACAGGAGCGC GCGGCCAGCG CCAAGGGCGC GGCGGGCGCG
GCGGGCGCCA AAAAGGGCGA GGCGCGCTGC TCCTCCGAGG ACGACGATTC CAAGGAGTCC
ACGTGCAGCC CCACGCCCGA TAGCACCGCC TCGCTGCCGC CGCCGCCTGC GCCCGGCCTG
GCCAGCCCGC GCCTGAGCCC CAGCCCGCTG CCCGTCGCAC TGGGCTCCGG GCCGGGACCT
GGGCCGGGGC CACAGCCGCT CAAGGGCGCA CTGTGGGCCG GTGTGGCGGG CGGTGGGGGC
GGCGGGCCTG GCGCGGGAGC GGCCGAACTA CTTAAGGCTT GGCAGCCGGC GGAGTCCGGC
CCCGGGCCCT TCTCCGGGGT TCTGTCCTCC TTTCACCGGA AGCCCGGCCC CGCCCTGAAG
ACCAATCTCT TCTAG

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