KCNJ13 cDNA ORF clone, Homo sapiens(human)
| 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 |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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: | |
| Disorder Html: | Snowflake vitreoretinal degeneration, 193230 (3); Leber congenital amaurosis 16, 614186 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_002242.4 | NP_002233.2 | inward rectifier potassium channel 13 isoform 1 |
| NM_001172416.1 | NP_001165887.1 | inward rectifier potassium channel 13 isoform 2 |
| NM_001172417.1 | NP_001165888.1 | inward rectifier potassium channel 13 isoform 3 |
| 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 |
Related articles in PubMed
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.
Perez-Roustit S, Marquette V, Bocquet B, Kaplan J, Perrault I, Meunier I, Hamel CP
Retinal cases & brief reports11(3)221-226(2017 Summer)
Characterization of MC4R Regulation of the Kir7.1 Channel Using the Tl
Litt MJ, Cone RD, Ghamari-Langroudi M
Methods in molecular biology (Clifton, N.J.)1684211-222(2018)
Oxytocin (OXT)-stimulated inhibition of Kir7.1 activity is through PIP
York N, Halbach P, Chiu MA, Bird IM, Pillers DM, Pattnaik BR
Cellular signalling3793-102(2017 Sep)
Abnormal Electroretinogram after Kir7.1 Channel Suppression Suggests Role in Retinal Electrophysiology.
Shahi PK, Liu X, Aul B, Moyer A, Pattnaik A, Denton J, Pillers DM, Pattnaik BR
Scientific reports7(1)10651(2017 Sep)
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 | 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 | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-12-19 | |
| 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 | ATGAATGGTG ATCTGGAACT AGATCATGAT GCCCCACCTG AAAACCACAC TATCTGTGTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001165888.1 |
| CDS | 145..987 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_001172417.1 |
ORF Insert Sequence:
1 | ATGAATGGTG ATCTGGAACT AGATCATGAT GCCCCACCTG AAAACCACAC TATCTGTGTC |
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 | 2019-12-27 | |
| 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 | ATGGACAGCA GTAATTGCAA AGTTATTGCT CCTCTCCTAA GTCAAAGATA CCGGAGGATG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001165887.1 |
| CDS | 138..422 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001172416.1 |
ORF Insert Sequence:
1 | ATGGACAGCA GTAATTGCAA AGTTATTGCT CCTCTCCTAA GTCAAAGATA CCGGAGGATG |
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 | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-12-27 | |
| 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## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233826.4/ ENSP00000233826.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGACAGCA GTAATTGCAA AGTTATTGCT CCTCTCCTAA GTCAAAGATA CCGGAGGATG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_002233.2 |
| CDS | 138..1220 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_002242.4 |
ORF Insert Sequence:
1 | ATGGACAGCA GTAATTGCAA AGTTATTGCT CCTCTCCTAA GTCAAAGATA CCGGAGGATG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. |
|
Characterization of MC4R Regulation of the Kir7.1 Channel Using the Tl |
|
Oxytocin (OXT)-stimulated inhibition of Kir7.1 activity is through PIP |
|
Abnormal Electroretinogram after Kir7.1 Channel Suppression Suggests Role in Retinal Electrophysiology. |