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Aliases & Descriptions for KCNJ13
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| KIR1.4 2 | | KIR7.1 2 | | Kir1.4 1 | | Kir7.1 1 | | MGC33328 2 | | SVD 2, 5 |
| | | Descriptions |
|---|
| Inward rectifier K(+) channel Kir7.1 3 | Potassium channel, inwardly rectifying subfamily J member 13 3 | | inward rectifier potassium channel 13 2 | | inwardly-rectifying potassium channel Kir7.1 2 | | potassium inwardly-rectifying channel J13 2 | potassium inwardly-rectifying channel, subfamily J, member 13 2 |
|
| | Search outside databases for aliases for KCNJ13 genePrevious GC identifers: GC02M231687 GC02M232360 GC02M233595 GC02M233833 GC02M233829 GC02M233458 |
Summaries for KCNJ13(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928Function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesiumGene Wiki entry for KCNJ13 |
Genomic Location for KCNJ13
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the KCNJ13 gene 
Entrez Gene cytogenetic band: 2q37 Ensembl cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q37KCNJ13 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M233339:
(about GC identifiers)
Start:
|
233,339,104 bp from pter |
End:
|
233,349,519 bp from pter |
Size:
|
10,416 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000002.10 NT_005403.16
| Proteins for KCNJ13
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928 (See
protein sequence)Recommended Name: Inward rectifier potassium channel 13 Size: 360 amino acids; 40530 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O76023 Q8N3Y4Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_002233.2
ENSEMBL proteins: ENSP00000233826 ENSP00000386251 ENSP00000386408
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008076 | voltage-gated potassium channel complex |
NAS | -- | | GO:0016020 | membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- | About this table
Antibodies for KCNJ13: Assays for KCNJ13: | Protein
Domains/ Families for KCNJ13(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O60928
ProtoNet protein and cluster: O60928 2 Blocks protein families: IPB001838 Inward rectifier K+ channel superfamily signature IPB008062 Kir7 inward rectifier K+ channel signature
UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928Similarity: Belongs to the inward rectifier-type potassium channel family | Gene Function for KCNJ13
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002242
Applied Biosystems Silencer® siRNAs for KCNJ13
Sigma-Aldrich siRNA and siRNA Panels for KCNJ13  Sigma-Aldrich shRNA Panels and shRNA for KCNJ13  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002242                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002242                                  untagged cDNA clones in CMV expression vector (see all 3): NM_002242 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002242
UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928Function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesiumGenatlas biochemistry entry for KCNJ13:potassium non voltage-gated channel,wealkly inwardly rectifying,subfamily J,member 13,novel subunit KIR7.1,predominantly expressed in thyroid follicular cells,choroid plexus,small intestine and moderately in the kidney,stomach,spinal cord and brain,located in the basolateral membrane of follicular cells,in the apical membrane of epithelia,putatively involved in the functional coupling between the channel and Na+K+ ATPase3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005242 | inward rectifier potassium channel activity |
NAS | 9738472 | | GO:0005244 | voltage-gated ion channel activity |
IEA | -- | | GO:0030955 | potassium ion binding |
IEA | -- | About this table | Pathways & Interactions for KCNJ13
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/41 Interacting proteins for KCNJ13 (ENSP000002338263) via UniProtKB, MINT, and/or STRING (see all 41
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for KCNJ13(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for KCNJ13 |
Compounds for KCNJ13 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| ZM 226600 | KATP channel opener | [147695-92-9] | | Minoxidil | K+ channel (KATP) opener | [38304-91-5] | | PNU 37883 hydrochloride | Vascular KATP channel blocker | [57568-80-6] | | Diazoxide | Blocks desensitization of AMPA receptors | [364-98-7] | | Y-27152 | Prodrug of KATP channel opener Y-26763; orally active in vivo | [127408-30-4] | About this table
|
Transcripts for KCNJ13(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002242
Sigma-Aldrich siRNA and siRNA Panels for KCNJ13  Sigma-Aldrich shRNA Panels and shRNA for KCNJ13  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_002242 REFSEQ mRNAs for KCNJ13 gene: NM_002242.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002242               OriGene GFP tagged cDNA clone in CMV expression vector: NM_002242                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002242                                  untagged cDNA clones in CMV expression vector (see all 3): NM_002242  Additional cDNA sequence: AF061118.1 AJ006128.1 AJ007557.1 AK314019.1 AY758240.1 AY758241.1 BC037290.2 7 DOTS entries: DT.97817451 DT.441401 DT.95362166 DT.214653 DT.214655 DT.75113695 DT.120968977 24/42 AceView cDNA sequences (see all 42
):BX098104 AF061118 CA397390 BX097331 CA394023 AI453039 AJ006128 BM713424 BX105910 BC037290 BG702897 AI208720 AU100510 BM678343 BF108771 AW470730 CD102781 CD104201 BF725750 BI552483 CD102493 AI192698 NM_002242 AJ007557
highest scoring ESTs for KCNJ13:AJ007557 AF061118 BC037290 BF725750 BG702897 BI552483 BX105910 CD511919 AA845464 AI077821 Unigene Cluster for KCNJ13: Potassium inwardly-rectifying channel, subfamily J, member 13 Hs.467338 [show with all ESTs]Unigene Representative Sequence: NM_002242
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ13
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | · | 3c | · | 3d | |
| SP1: | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for KCNJ13
3 Ensembl transcripts including schematic representations: ENST00000233826
ENST00000410029
ENST00000409779
|
Expression for KCNJ13
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| KCNJ13 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for KCNJ13
1 / 2 / 3 5 probe-sets matching KCNJ13 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.467338
Expression variation in blood from EXPOLDB for KCNJ13 UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928Tissue specificity: Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord |
Orthologs for KCNJ13
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for KCNJ13 gene from 5 species
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
KCNJ131 |
-- |
potassium inwardly-rectifying channel, subfamily J, more |
94.63(n) 96.67(a) |
477411 XM_534607.2 XP_534607.1 |
cow (Bos taurus) |
KCNJ131 |
-- |
potassium inwardly-rectifying channel, subfamily J, more |
92.04(n) 94.44(a) |
512288 XM_881518.2 XP_886611.1 |
rat (Rattus norvegicus) |
Kcnj131 |
-- |
potassium inwardly-rectifying channel, subfamily J, more |
90.56(n) 93.89(a) |
94341 NM_053608.2 NP_446060.1 |
mouse (Mus musculus) |
Kcnj131, 5 |
15
|
potassium inwardly-rectifying channel, subfamily J, more1, 5 |
90(n)1 93.06(a)1 |
1000405911 XM_001475110.11 XP_001475160.11 |
zebrafish (Danio rerio) |
kcnj131 |
-- |
potassium inwardly-rectifying channel, subfamily J, more |
57.16(n) 53.15(a) |
555691 NM_001045549.1 NP_001039014.1 |
About this table Species with no ortholog for KCNJ13
ENSEMBL Gene Tree for KCNJ13 | Paralogs for KCNJ13(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for KCNJ13 gene
- KCNJ102 KCNJ152
|
SNPs/Variants for KCNJ13(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| -- |
Disorders & Mutations for KCNJ13
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 603208 disorders: 193230 UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928
Defects in KCNJ13 are the cause of snowflake vitreoretinal degeneration (SVD) [MIM:193230]. SVD is a developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachmentHuman Gene Mutation Database: KCNJ13 Human Genome Epidemiology Navigator: KCNJ13 (1 document)
|
Medical News for KCNJ13(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for KCNJ13 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/16 PubMed articles for KCNJ13 gene (see all 16
):- Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13). (PubMed id 9878260)1, 2, 3, 4 Derst C.... Grzeschik K.-H. (1998)
- A novel inward rectifier K+ channel with unique pore properties. (PubMed id 9620703)2, 3, 4 Krapivinsky G....Clapham D.E. (1998)
- Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. (PubMed id 18179896)1, 3, 4 Hejtmancik J.F....Edwards A.O. (2008)
- International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)2, 3 Kubo Y....Vandenberg C.A. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine. (PubMed id 9738472)3, 4 Partiseti M.... Graham D. (1998)
- Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium. (PubMed id 18035352)1, 3 Yang D....Hughes B.A. (2008)
- Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)3 Trynka G....Wijmenga C. (2009)
- Rare independent mutations in renal salt handling genes contribute to blood pressure variation. (PubMed id 18391953)3 Ji W....Lifton R.P. (2008)
- Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C. (PubMed id 18976636)3 Zhang W....Schwenger V. (2008)
|
Search for KCNJ13
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing KCNJ13
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing KCNJ13
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNJ13(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for KCNJ13(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for KCNJ13:

|
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|