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KCNJ13 cDNA ORF clone, Homo sapiens(human)

Summary

Gene Symbol KCNJ13
Entrez Gene ID 3769
Full Name potassium voltage-gated channel subfamily J member 13
Synonyms KIR1.4,KIR7.1,LCA16,SVD
General protein information
Preferred Names

potassium voltage-gated channel subfamily J member 13

Names

inward rectifier potassium channel 13
inward rectifier K(+) channel Kir7.1
potassium channel, inwardly rectifying subfamily J, member 13
potassium inwardly-rectifying channel, subfamily J, member 13
Gene Type protein-coding
Organism Homo sapiens(human)
Genome

2

2q37.1
Summary This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010].
Disorder MIM:

603208

Disorder Html: Snowflake vitreoretinal degeneration, 193230 (3); Leber congenital amaurosis 16, 614186 (3)

Reference Sequences (RefSeq)

mRNA and Protein(s)

mRNA Protein Name
NM_001172416.1 NP_001165887.1 inward rectifier potassium channel 13 isoform 2
NM_002242.4 NP_002233.2 inward rectifier potassium channel 13 isoform 1
NM_001172417.1 NP_001165888.1 inward rectifier potassium channel 13 isoform 3

Pathways from BioSystems


Homologies


Gallus gallus (chicken) KCNJ13 XP_004936982.1
Xenopus tropicalis (tropical clawed frog) kcnj13 NP_001096437.1
Rattus norvegicus (Norway rat) Kcnj13 NP_446060.1
Homo sapiens (human) KCNJ13 NP_002233.2
KCNJ13 XP_001114542.1
Pan troglodytes (chimpanzee) KCNJ13 XP_003309569.1
Bos taurus (cattle) KCNJ13 NP_001180183.1
Canis lupus familiaris (dog) KCNJ13 XP_005635917.1
Mus musculus (house mouse) Kcnj13 NP_001103697.1
Danio rerio (zebrafish) kcnj13 NP_001039014.1

Gene Ontology


Bibliography

Related articles in PubMed

A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
Pattnaik BR, Shahi PK, Marino MJ, Liu X, York N, Brar S, Chiang J, Pillers DA, Traboulsi EI
Human mutation36(7)720-7(2015 Jul)

A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
Khan AO, Bergmann C, Neuhaus C, Bolz HJ
Ophthalmic genetics36(1)79-84(2015 Mar)

The inwardly rectifying K+ channel KIR7.1 controls uterine excitability throughout pregnancy.
McCloskey C, Rada C, Bailey E, McCavera S, van den Berg HA, Atia J, Rand DA, Shmygol A, Chan YW, Quenby S, Brosens JJ, Vatish M, Zhang J, Denton JS, Taggart MJ, Kettleborough C, Tickle D, Jerman J, Wright P, Dale T, Kanumilli S, Trezise DJ, Thornton S, Brown P, Catalano R, Lin N, England SK, Blanks AM
EMBO molecular medicine6(9)1161-74(2014 Sep)

Biological insights from 108 schizophrenia-associated genetic loci.

Nature511(7510)421-7(2014 Jul)

Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
Pattnaik BR, Tokarz S, Asuma MP, Schroeder T, Sharma A, Mitchell JC, Edwards AO, Pillers DA
PloS one8(8)e71744(2013)

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

KCNJ13 mutations are responsible for early-onset retinal dystrophy, featuring remarkable clumpy pigment deposits at the level of the retinal pigment epithelium, suggesting dysfunction and disorganization of this tissue.
Title: LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

Kir7.1 mutations are associated with vision disorders to include novel insights into the molecular mechanism of disease pathobiology in Leber Congenital Amaurosis.
Title: A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

Juvenile or early-adult-onset cataract in the setting of a congenital vitreo-retinal dystrophy notable for fibrosis over the disc and clumped pigmentation in the posterior pole is a unique phenotype that suggests recessive KCNJ13 mutations.
Title: A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

Kir7.1 regulates the transition from quiescence to contractions in the pregnant uterus.
Title: The inwardly rectifying K+ channel KIR7.1 controls uterine excitability throughout pregnancy.

Kir7.1, R162W mutant showed a reduction of IKir7.1 and positive shift in '0' current potential.
Title: Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.

The following KCNJ13 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the KCNJ13 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) Select
OHu20601 NM_001172417.1
Latest version!		 Homo sapiens potassium voltage-gated channel subfamily J member 13 (KCNJ13), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $154.50-$216.30
$309.00
OHu22845 NM_002242.4
Latest version!		 Homo sapiens potassium voltage-gated channel subfamily J member 13 (KCNJ13), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $189.50-$265.30
$379.00
OHu22407 NM_001172416.1
Latest version!		 Homo sapiens potassium voltage-gated channel subfamily J member 13 (KCNJ13), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00

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.

Reference Sequences (Refseq)


CloneID OHu20601
Clone ID Related Accession (Same CDS sequence) NM_001172417.1
Accession Version NM_001172417.1 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 843bp)
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
Insert Structure linear
Update Date 2017-10-02
Organism Homo sapiens(human)
Product inward rectifier potassium channel 13 isoform 3
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB173405.1, DN993097.1, AJ007557.1 and AC064852.4. Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and uses a downstream start codon, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus, compared to 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. 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 :: SRR1660805.47363.1, SRR1660809.251203.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145240, SAMEA2148874 [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
ATGAATGGTG ATCTGGAACT AGATCATGAT GCCCCACCTG AAAACCACAC TATCTGTGTC 
AAGTATATCA CCAGTTTCAC AGCTGCATTC TCCTTCTCCC TGGAGACACA ACTCACAATT 
GGTTATGGTA CCATGTTCCC CAGTGGTGAC TGTCCAAGTG CAATCGCCTT ACTTGCCATA 
CAAATGCTCC TAGGCCTCAT GCTAGAGGCT TTTATCACAG GTGCTTTTGT GGCGAAGATT 
GCCCGGCCAA AAAATCGAGC TTTTTCAATT CGCTTTACTG ACACAGCAGT AGTAGCTCAC 
ATGGATGGCA AACCTAATCT TATCTTCCAA GTGGCCAACA CCCGACCTAG CCCTCTAACC 
AGTGTCCGGG TCTCAGCTGT ACTCTATCAG GAAAGAGAAA ATGGCAAACT CTACCAGACC 
AGTGTGGATT TCCACCTTGA TGGCATCAGT TCTGACGAAT GTCCATTCTT CATCTTTCCA 
CTAACGTACT ATCACTCCAT TACACCATCA AGTCCTCTGG CTACTCTGCT CCAGCATGAA 
AATCCTTCTC ACTTTGAATT AGTTGTATTC CTTTCAGCAA TGCAGGAGGG CACTGGAGAA 
ATATGCCAAA GGAGGACATC CTACCTACCG TCTGAAATCA TGTTACATCA CTGTTTTGCA 
TCTCTGTTGA CCCGAGGTTC CAAAGGTGAA TATCAAATCA AGATGGAGAA TTTTGACAAG 
ACTGTCCCTG AATTTCCAAC TCCTCTGGTT TCTAAAAGCC CAAACAGGAC TGACCTGGAT 
ATCCACATCA ATGGACAAAG CATTGACAAT TTTCAGATCT CTGAAACAGG ACTGACAGAA 
TAA

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

RefSeq NP_001165888.1
CDS145..987
Misc Feature(1)103..105
Misc Feature(2)148..897
Exon (1)1..121
Exon (2)122..364
Exon (3)365..3376
Translation

Target ORF information:

RefSeq Version NM_001172417.1
Organism Homo sapiens(human)
Definition Homo sapiens potassium voltage-gated channel subfamily J member 13 (KCNJ13), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001172417.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGAATGGTG ATCTGGAACT AGATCATGAT GCCCCACCTG AAAACCACAC TATCTGTGTC 
AAGTATATCA CCAGTTTCAC AGCTGCATTC TCCTTCTCCC TGGAGACACA ACTCACAATT 
GGTTATGGTA CCATGTTCCC CAGTGGTGAC TGTCCAAGTG CAATCGCCTT ACTTGCCATA 
CAAATGCTCC TAGGCCTCAT GCTAGAGGCT TTTATCACAG GTGCTTTTGT GGCGAAGATT 
GCCCGGCCAA AAAATCGAGC TTTTTCAATT CGCTTTACTG ACACAGCAGT AGTAGCTCAC 
ATGGATGGCA AACCTAATCT TATCTTCCAA GTGGCCAACA CCCGACCTAG CCCTCTAACC 
AGTGTCCGGG TCTCAGCTGT ACTCTATCAG GAAAGAGAAA ATGGCAAACT CTACCAGACC 
AGTGTGGATT TCCACCTTGA TGGCATCAGT TCTGACGAAT GTCCATTCTT CATCTTTCCA 
CTAACGTACT ATCACTCCAT TACACCATCA AGTCCTCTGG CTACTCTGCT CCAGCATGAA 
AATCCTTCTC ACTTTGAATT AGTTGTATTC CTTTCAGCAA TGCAGGAGGG CACTGGAGAA 
ATATGCCAAA GGAGGACATC CTACCTACCG TCTGAAATCA TGTTACATCA CTGTTTTGCA 
TCTCTGTTGA CCCGAGGTTC CAAAGGTGAA TATCAAATCA AGATGGAGAA TTTTGACAAG 
ACTGTCCCTG AATTTCCAAC TCCTCTGGTT TCTAAAAGCC CAAACAGGAC TGACCTGGAT 
ATCCACATCA ATGGACAAAG CATTGACAAT TTTCAGATCT CTGAAACAGG ACTGACAGAA 
TAA

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

CloneID OHu22845
Clone ID Related Accession (Same CDS sequence) NM_002242.4
Accession Version NM_002242.4 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 1083bp)
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
Insert Structure linear
Update Date 2017-10-02
Organism Homo sapiens(human)
Product inward rectifier potassium channel 13 isoform 1
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK314019.1, AJ007557.1 and AC064852.4. This sequence is a reference standard in the RefSeqGene project. On Feb 24, 2010 this sequence version replaced NM_002242.3. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest 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. 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 :: BC037290.2, SRR1803615.52690.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144120, SAMEA2144835 [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
901
961
1021
1081
ATGGACAGCA GTAATTGCAA AGTTATTGCT CCTCTCCTAA GTCAAAGATA CCGGAGGATG 
GTCACCAAGG ATGGCCACAG CACACTTCAA ATGGATGGCG CTCAAAGAGG TCTTGCATAT 
CTTCGAGATG CTTGGGGAAT CCTAATGGAC ATGCGCTGGC GTTGGATGAT GTTGGTCTTT 
TCTGCTTCTT TTGTTGTCCA CTGGCTTGTC TTTGCAGTGC TCTGGTATGT TCTGGCTGAG 
ATGAATGGTG ATCTGGAACT AGATCATGAT GCCCCACCTG AAAACCACAC TATCTGTGTC 
AAGTATATCA CCAGTTTCAC AGCTGCATTC TCCTTCTCCC TGGAGACACA ACTCACAATT 
GGTTATGGTA CCATGTTCCC CAGTGGTGAC TGTCCAAGTG CAATCGCCTT ACTTGCCATA 
CAAATGCTCC TAGGCCTCAT GCTAGAGGCT TTTATCACAG GTGCTTTTGT GGCGAAGATT 
GCCCGGCCAA AAAATCGAGC TTTTTCAATT CGCTTTACTG ACACAGCAGT AGTAGCTCAC 
ATGGATGGCA AACCTAATCT TATCTTCCAA GTGGCCAACA CCCGACCTAG CCCTCTAACC 
AGTGTCCGGG TCTCAGCTGT ACTCTATCAG GAAAGAGAAA ATGGCAAACT CTACCAGACC 
AGTGTGGATT TCCACCTTGA TGGCATCAGT TCTGACGAAT GTCCATTCTT CATCTTTCCA 
CTAACGTACT ATCACTCCAT TACACCATCA AGTCCTCTGG CTACTCTGCT CCAGCATGAA 
AATCCTTCTC ACTTTGAATT AGTTGTATTC CTTTCAGCAA TGCAGGAGGG CACTGGAGAA 
ATATGCCAAA GGAGGACATC CTACCTACCG TCTGAAATCA TGTTACATCA CTGTTTTGCA 
TCTCTGTTGA CCCGAGGTTC CAAAGGTGAA TATCAAATCA AGATGGAGAA TTTTGACAAG 
ACTGTCCCTG AATTTCCAAC TCCTCTGGTT TCTAAAAGCC CAAACAGGAC TGACCTGGAT 
ATCCACATCA ATGGACAAAG CATTGACAAT TTTCAGATCT CTGAAACAGG ACTGACAGAA 
TAA

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

RefSeq NP_002233.2
CDS138..1220
Misc Feature(1)120..122
Misc Feature(2)198..1130
Misc Feature(3)297..371
Misc Feature(4)492..509
Misc Feature(5)537..602
Misc Feature(6)582..584
Misc Feature(7)738..740
Misc Feature(8)996..998
Exon (1)1..121
Exon (2)122..597
Exon (3)598..3609
Translation

Target ORF information:

RefSeq Version NM_002242.4
Organism Homo sapiens(human)
Definition Homo sapiens potassium voltage-gated channel subfamily J member 13 (KCNJ13), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_002242.4

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
ATGGACAGCA GTAATTGCAA AGTTATTGCT CCTCTCCTAA GTCAAAGATA CCGGAGGATG 
GTCACCAAGG ATGGCCACAG CACACTTCAA ATGGATGGCG CTCAAAGAGG TCTTGCATAT 
CTTCGAGATG CTTGGGGAAT CCTAATGGAC ATGCGCTGGC GTTGGATGAT GTTGGTCTTT 
TCTGCTTCTT TTGTTGTCCA CTGGCTTGTC TTTGCAGTGC TCTGGTATGT TCTGGCTGAG 
ATGAATGGTG ATCTGGAACT AGATCATGAT GCCCCACCTG AAAACCACAC TATCTGTGTC 
AAGTATATCA CCAGTTTCAC AGCTGCATTC TCCTTCTCCC TGGAGACACA ACTCACAATT 
GGTTATGGTA CCATGTTCCC CAGTGGTGAC TGTCCAAGTG CAATCGCCTT ACTTGCCATA 
CAAATGCTCC TAGGCCTCAT GCTAGAGGCT TTTATCACAG GTGCTTTTGT GGCGAAGATT 
GCCCGGCCAA AAAATCGAGC TTTTTCAATT CGCTTTACTG ACACAGCAGT AGTAGCTCAC 
ATGGATGGCA AACCTAATCT TATCTTCCAA GTGGCCAACA CCCGACCTAG CCCTCTAACC 
AGTGTCCGGG TCTCAGCTGT ACTCTATCAG GAAAGAGAAA ATGGCAAACT CTACCAGACC 
AGTGTGGATT TCCACCTTGA TGGCATCAGT TCTGACGAAT GTCCATTCTT CATCTTTCCA 
CTAACGTACT ATCACTCCAT TACACCATCA AGTCCTCTGG CTACTCTGCT CCAGCATGAA 
AATCCTTCTC ACTTTGAATT AGTTGTATTC CTTTCAGCAA TGCAGGAGGG CACTGGAGAA 
ATATGCCAAA GGAGGACATC CTACCTACCG TCTGAAATCA TGTTACATCA CTGTTTTGCA 
TCTCTGTTGA CCCGAGGTTC CAAAGGTGAA TATCAAATCA AGATGGAGAA TTTTGACAAG 
ACTGTCCCTG AATTTCCAAC TCCTCTGGTT TCTAAAAGCC CAAACAGGAC TGACCTGGAT 
ATCCACATCA ATGGACAAAG CATTGACAAT TTTCAGATCT CTGAAACAGG ACTGACAGAA 
TAA

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

CloneID OHu22407
Clone ID Related Accession (Same CDS sequence) NM_001172416.1
Accession Version NM_001172416.1 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 285bp)
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 2017-10-02
Organism Homo sapiens(human)
Product inward rectifier potassium channel 13 isoform 2
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB173405.1, AJ007557.1 and AC064852.4. Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to 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. 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 :: DB173405.1, DN992555.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144120, SAMEA2144835 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
ATGGACAGCA GTAATTGCAA AGTTATTGCT CCTCTCCTAA GTCAAAGATA CCGGAGGATG 
GTCACCAAGG ATGGCCACAG CACACTTCAA ATGGATGGCG CTCAAAGAGG TCTTGCATAT 
CTTCGAGATG CTTGGGGAAT CCTAATGGAC ATGCGCTGGC GTTGGATGAT GTTGGTCTTT 
TCTGCTTCTT TTGTTGTCCA CTGGCTTGTC TTTGCAGTGC TCTGGTGCTT TTGTGGCGAA 
GATTGCCCGG CCAAAAAATC GAGCTTTTTC AATTCGCTTT ACTGA

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

RefSeq NP_001165887.1
CDS138..422
Misc Feature(1)120..122
Misc Feature(2)198..>362
Exon (1)1..121
Exon (2)122..361
Exon (3)362..3373
Translation

Target ORF information:

RefSeq Version NM_001172416.1
Organism Homo sapiens(human)
Definition Homo sapiens potassium voltage-gated channel subfamily J member 13 (KCNJ13), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001172416.1

ORF Insert Sequence:

1
61
121
181
241
ATGGACAGCA GTAATTGCAA AGTTATTGCT CCTCTCCTAA GTCAAAGATA CCGGAGGATG 
GTCACCAAGG ATGGCCACAG CACACTTCAA ATGGATGGCG CTCAAAGAGG TCTTGCATAT 
CTTCGAGATG CTTGGGGAAT CCTAATGGAC ATGCGCTGGC GTTGGATGAT GTTGGTCTTT 
TCTGCTTCTT TTGTTGTCCA CTGGCTTGTC TTTGCAGTGC TCTGGTGCTT TTGTGGCGAA 
GATTGCCCGG CCAAAAAATC GAGCTTTTTC AATTCGCTTT ACTGA

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

PubMed

book

A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
Human mutation36(7)720-7(2015 Jul)
Pattnaik BR,Shahi PK,Marino MJ,Liu X,York N,Brar S,Chiang J,Pillers DA,Traboulsi EI


book

A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
Ophthalmic genetics36(1)79-84(2015 Mar)
Khan AO,Bergmann C,Neuhaus C,Bolz HJ


book

The inwardly rectifying K+ channel KIR7.1 controls uterine excitability throughout pregnancy.
EMBO molecular medicine6(9)1161-74(2014 Sep)
McCloskey C,Rada C,Bailey E,McCavera S,van den Berg HA,Atia J,Rand DA,Shmygol A,Chan YW,Quenby S,Brosens JJ,Vatish M,Zhang J,Denton JS,Taggart MJ,Kettleborough C,Tickle D,Jerman J,Wright P,Dale T,Kanumilli S,Trezise DJ,Thornton S,Brown P,Catalano R,Lin N,England SK,Blanks AM


book

Biological insights from 108 schizophrenia-associated genetic loci.
Nature511(7510)421-7(2014 Jul)

book

Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
PloS one8(8)e71744(2013)
Pattnaik BR,Tokarz S,Asuma MP,Schroeder T,Sharma A,Mitchell JC,Edwards AO,Pillers DA