KCNIP2 (potassium voltage-gated channel interacting protein 2) - Rat Genome Database

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Gene: KCNIP2 (potassium voltage-gated channel interacting protein 2) Homo sapiens
Analyze
Symbol: KCNIP2
Name: potassium voltage-gated channel interacting protein 2
RGD ID: 734096
HGNC Page HGNC:15522
Description: Enables identical protein binding activity; potassium channel regulator activity; and transmembrane transporter binding activity. Contributes to A-type (transient outward) potassium channel activity. Involved in several processes, including clustering of voltage-gated potassium channels; positive regulation of potassium ion export across plasma membrane; and regulation of membrane repolarization. Located in cytoplasm. Part of Kv4.2-KChIP2 channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A-type potassium channel modulatory protein 2; A-type potassium channel modulatory protein KCNIP2; cardiac voltage gated potassium channel modulatory subunit; cardiac voltage-gated potassium channel modulatory subunit; DKFZp566L1246; KCHIP2; Kv channel interacting protein 2; Kv channel-interacting protein 2; MGC17241; potassium channel interacting protein 2; potassium channel-interacting protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810101,825,974 - 101,843,800 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10101,825,974 - 101,843,920 (-)EnsemblGRCh38hg38GRCh38
GRCh3710103,585,731 - 103,603,557 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,575,721 - 103,593,667 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410103,575,721 - 103,593,667NCBI
Celera1097,324,471 - 97,342,415 (-)NCBICelera
Cytogenetic Map10q24.32NCBI
HuRef1097,216,464 - 97,234,410 (-)NCBIHuRef
CHM1_110103,869,314 - 103,887,271 (-)NCBICHM1_1
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
alfentanil pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway   (EXP)
calcium/calcium-mediated signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

References

References - curated
# Reference Title Reference Citation
1. A defect in the Kv channel-interacting protein 2 (KChIP2) gene leads to a complete loss of I(to) and confers susceptibility to ventricular tachycardia. Kuo HC, etal., Cell 2001 Dec 14;107(6):801-13.
2. The diversity of calcium sensor proteins in the regulation of neuronal function. McCue HV, etal., Cold Spring Harb Perspect Biol. 2010 Aug;2(8):a004085. doi: 10.1101/cshperspect.a004085. Epub 2010 Jul 28.
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10551270   PMID:10676964   PMID:11076863   PMID:11230166   PMID:11263977   PMID:11287421   PMID:11351020   PMID:11684073   PMID:12135940   PMID:12297301   PMID:12477932   PMID:12829703  
PMID:12928444   PMID:14623880   PMID:14702039   PMID:14980201   PMID:14980207   PMID:15184042   PMID:15356203   PMID:15358149   PMID:15489334   PMID:15489336   PMID:15498806   PMID:15578212  
PMID:16112838   PMID:16177826   PMID:16381901   PMID:16385451   PMID:16820361   PMID:16951992   PMID:17353931   PMID:18393943   PMID:18501111   PMID:18585502   PMID:18957440   PMID:19361449  
PMID:19927631   PMID:20354865   PMID:20498229   PMID:20649599   PMID:20709747   PMID:21349352   PMID:21422811   PMID:21493962   PMID:21873635   PMID:24096004   PMID:26016905   PMID:26186194  
PMID:27349185   PMID:28263709   PMID:28514442   PMID:28611215   PMID:28735419   PMID:29385176   PMID:30622142   PMID:31362018   PMID:32296183   PMID:32814053   PMID:33961781   PMID:37249651  


Genomics

Comparative Map Data
KCNIP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810101,825,974 - 101,843,800 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10101,825,974 - 101,843,920 (-)EnsemblGRCh38hg38GRCh38
GRCh3710103,585,731 - 103,603,557 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,575,721 - 103,593,667 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410103,575,721 - 103,593,667NCBI
Celera1097,324,471 - 97,342,415 (-)NCBICelera
Cytogenetic Map10q24.32NCBI
HuRef1097,216,464 - 97,234,410 (-)NCBIHuRef
CHM1_110103,869,314 - 103,887,271 (-)NCBICHM1_1
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBIT2T-CHM13v2.0
Kcnip2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391945,780,785 - 45,804,948 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1945,780,278 - 45,804,500 (-)EnsemblGRCm39 Ensembl
GRCm381945,792,346 - 45,816,422 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1945,791,839 - 45,816,061 (-)EnsemblGRCm38mm10GRCm38
MGSCv371945,868,160 - 45,890,293 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361945,846,981 - 45,869,114 (-)NCBIMGSCv36mm8
Celera1946,555,638 - 46,577,688 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1938.75NCBI
Kcnip2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81254,590,172 - 254,614,437 (-)NCBIGRCr8
mRatBN7.21244,641,147 - 244,664,939 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1244,641,150 - 244,664,874 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1252,782,586 - 252,806,733 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01259,480,725 - 259,504,561 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01252,132,599 - 252,156,275 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01265,549,610 - 265,573,393 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1265,549,593 - 265,573,409 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1262,892,545 - 262,916,361 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01270,337,725 - 270,361,519 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41251,008,676 - 251,032,402 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1240,448,191 - 240,472,276 (-)NCBICelera
Cytogenetic Map1q54NCBI
Kcnip2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554858,467,207 - 8,470,950 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554858,468,117 - 8,472,220 (+)NCBIChiLan1.0ChiLan1.0
KCNIP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28113,712,657 - 113,730,573 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110113,717,971 - 113,735,894 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01098,428,619 - 98,446,581 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110101,899,898 - 101,918,691 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10101,899,898 - 101,918,691 (-)Ensemblpanpan1.1panPan2
KCNIP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12814,409,526 - 14,425,641 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2814,409,526 - 14,425,641 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2814,578,242 - 14,596,662 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02814,877,733 - 14,896,184 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2814,859,845 - 14,896,560 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12814,424,193 - 14,442,591 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02814,463,755 - 14,482,179 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02814,596,080 - 14,614,481 (-)NCBIUU_Cfam_GSD_1.0
Kcnip2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721332,337,576 - 32,371,125 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366003,940,813 - 3,961,803 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366003,940,806 - 3,974,455 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNIP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14112,857,062 - 112,876,439 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114112,857,058 - 112,876,469 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214122,709,372 - 122,726,785 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNIP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1994,854,024 - 94,873,655 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl994,855,403 - 94,873,312 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604855,930,976 - 55,951,582 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnip2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248311,301,598 - 1,319,572 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248311,301,840 - 1,319,487 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNIP2
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3 copy number gain See cases [RCV000053565] Chr10:101120347..101831908 [GRCh38]
Chr10:102880104..103591665 [GRCh37]
Chr10:102870094..103581655 [NCBI36]
Chr10:10q24.31-24.32		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_173191.3(KCNIP2):c.706A>G (p.Met236Val) single nucleotide variant not specified [RCV004293160] Chr10:101827748 [GRCh38]
Chr10:103587505 [GRCh37]
Chr10:10q24.32		 uncertain significance
NC_000010.10:g.(?_99344461)_(105992004_?)dup duplication not provided [RCV003107322] Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1		 uncertain significance
NM_173191.3(KCNIP2):c.662G>A (p.Arg221Gln) single nucleotide variant not specified [RCV004293926] Chr10:101827929 [GRCh38]
Chr10:103587686 [GRCh37]
Chr10:10q24.32		 uncertain significance
GRCh37/hg19 10q24.32(chr10:103582453-103931269)x3 copy number gain not provided [RCV001258462] Chr10:103582453..103931269 [GRCh37]
Chr10:10q24.32		 uncertain significance
NM_173191.3(KCNIP2):c.426C>G (p.Ser142Arg) single nucleotide variant not specified [RCV004308034] Chr10:101828452 [GRCh38]
Chr10:103588209 [GRCh37]
Chr10:10q24.32		 uncertain significance
NM_173191.3(KCNIP2):c.763A>C (p.Lys255Gln) single nucleotide variant not specified [RCV004176155] Chr10:101827691 [GRCh38]
Chr10:103587448 [GRCh37]
Chr10:10q24.32		 uncertain significance
NM_173191.3(KCNIP2):c.310C>T (p.Arg104Cys) single nucleotide variant not specified [RCV004211672] Chr10:101829113 [GRCh38]
Chr10:103588870 [GRCh37]
Chr10:10q24.32		 uncertain significance
NM_173191.3(KCNIP2):c.117C>A (p.Phe39Leu) single nucleotide variant not specified [RCV004285299] Chr10:101831124 [GRCh38]
Chr10:103590881 [GRCh37]
Chr10:10q24.32		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10q24.32(chr10:103197122-103601973)x3 copy number gain not specified [RCV003986886] Chr10:103197122..103601973 [GRCh37]
Chr10:10q24.32		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_173191.3(KCNIP2):c.170-22G>C single nucleotide variant not specified [RCV004406189] Chr10:101829919 [GRCh38]
Chr10:103589676 [GRCh37]
Chr10:10q24.32		 uncertain significance
NM_173191.3(KCNIP2):c.598G>A (p.Glu200Lys) single nucleotide variant not specified [RCV004406190] Chr10:101827993 [GRCh38]
Chr10:103587750 [GRCh37]
Chr10:10q24.32		 uncertain significance
NM_173191.3(KCNIP2):c.17G>A (p.Arg6His) single nucleotide variant not specified [RCV004636149] Chr10:101843552 [GRCh38]
Chr10:103603309 [GRCh37]
Chr10:10q24.32		 uncertain significance
NM_173191.3(KCNIP2):c.767A>T (p.Asp256Val) single nucleotide variant not specified [RCV004628148] Chr10:101827399 [GRCh38]
Chr10:103587156 [GRCh37]
Chr10:10q24.32		 uncertain significance
NM_173191.3(KCNIP2):c.511G>A (p.Val171Met) single nucleotide variant not specified [RCV004628149] Chr10:101828237 [GRCh38]
Chr10:103587994 [GRCh37]
Chr10:10q24.32		 uncertain significance
Single allele deletion See cases [RCV004727573] Chr10:102837530..105033440 [GRCh37]
Chr10:10q24.31-24.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5923
Count of miRNA genes:961
Interacting mature miRNAs:1188
Transcripts:ENST00000239117, ENST00000343195, ENST00000348850, ENST00000353068, ENST00000355657, ENST00000356640, ENST00000358038, ENST00000370046, ENST00000434163, ENST00000460388, ENST00000461105, ENST00000472764, ENST00000483385
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human

Markers in Region
D10S2382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,605,387 - 103,605,516UniSTSGRCh37
Build 3610103,595,377 - 103,595,506RGDNCBI36
Celera1097,344,825 - 97,344,954RGD
Cytogenetic Map10q24UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef1097,236,119 - 97,236,248UniSTS
GeneMap99-G3 RH Map104878.0UniSTS
RH92563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,588,422 - 103,588,599UniSTSGRCh37
Build 3610103,578,412 - 103,578,589RGDNCBI36
Celera1097,327,162 - 97,327,339RGD
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q24UniSTS
HuRef1097,219,155 - 97,219,332UniSTS
GeneMap99-GB4 RH Map10484.14UniSTS
RH93099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,585,876 - 103,586,007UniSTSGRCh37
Build 3610103,575,866 - 103,575,997RGDNCBI36
Celera1097,324,616 - 97,324,747RGD
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q24UniSTS
HuRef1097,216,609 - 97,216,740UniSTS
GeneMap99-GB4 RH Map10482.2UniSTS
KCNIP2_887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,585,681 - 103,586,497UniSTSGRCh37
Build 3610103,575,671 - 103,576,487RGDNCBI36
Celera1097,324,421 - 97,325,237RGD
HuRef1097,216,414 - 97,217,230UniSTS
Bda26a02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,605,423 - 103,605,577UniSTSGRCh37
Build 3610103,595,413 - 103,595,567RGDNCBI36
Celera1097,344,861 - 97,345,015RGD
Cytogenetic Map10q24UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef1097,236,155 - 97,236,309UniSTS
GeneMap99-GB4 RH Map10478.66UniSTS
G20725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,605,500 - 103,605,626UniSTSGRCh37
Build 3610103,595,490 - 103,595,616RGDNCBI36
Celera1097,344,938 - 97,345,064RGD
Cytogenetic Map10q24UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef1097,236,232 - 97,236,358UniSTS
A006D27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,605,500 - 103,605,626UniSTSGRCh37
Build 3610103,595,490 - 103,595,616RGDNCBI36
Celera1097,344,938 - 97,345,064RGD
Cytogenetic Map10q24UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef1097,236,232 - 97,236,358UniSTS
GeneMap99-GB4 RH Map10478.66UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2251 4968 1724 2343 4 621 1942 462 2267 7277 6455 52 3731 844 1733 1612 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB044584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB044585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF199598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF295076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF295530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF347114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF367018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF367019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF367020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF367021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ276317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY026328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY863199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG911444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ148480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ148481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ148482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ148483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ148484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ862463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000239117   ⟹   ENSP00000239117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,827,641 - 101,843,568 (-)Ensembl
Ensembl Acc Id: ENST00000343195   ⟹   ENSP00000344169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,827,353 - 101,843,568 (-)Ensembl
Ensembl Acc Id: ENST00000348850   ⟹   ENSP00000239118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,825,974 - 101,839,872 (-)Ensembl
Ensembl Acc Id: ENST00000353068   ⟹   ENSP00000341624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,827,353 - 101,843,568 (-)Ensembl
Ensembl Acc Id: ENST00000355657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,825,974 - 101,843,920 (-)Ensembl
Ensembl Acc Id: ENST00000356640   ⟹   ENSP00000349055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,825,974 - 101,843,800 (-)Ensembl
Ensembl Acc Id: ENST00000358038   ⟹   ENSP00000350733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,825,975 - 101,843,920 (-)Ensembl
Ensembl Acc Id: ENST00000370046   ⟹   ENSP00000359063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,827,186 - 101,843,769 (-)Ensembl
Ensembl Acc Id: ENST00000434163   ⟹   ENSP00000411679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,827,353 - 101,830,438 (-)Ensembl
Ensembl Acc Id: ENST00000460388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,826,973 - 101,827,955 (-)Ensembl
Ensembl Acc Id: ENST00000461105   ⟹   ENSP00000420040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,827,353 - 101,843,568 (-)Ensembl
Ensembl Acc Id: ENST00000472764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,827,296 - 101,843,568 (-)Ensembl
Ensembl Acc Id: ENST00000483385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,828,267 - 101,829,547 (-)Ensembl
Ensembl Acc Id: ENST00000642874   ⟹   ENSP00000495474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,827,353 - 101,834,369 (-)Ensembl
RefSeq Acc Id: NM_014591   ⟹   NP_055406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,843,800 (-)NCBI
GRCh3710103,585,731 - 103,603,769 (-)NCBI
Build 3610103,575,721 - 103,593,667 (-)NCBI Archive
HuRef1097,216,464 - 97,234,410 (-)ENTREZGENE
CHM1_110103,869,314 - 103,887,271 (-)NCBI
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173191   ⟹   NP_775283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,843,800 (-)NCBI
GRCh3710103,585,731 - 103,603,769 (-)NCBI
Build 3610103,575,721 - 103,593,667 (-)NCBI Archive
HuRef1097,216,464 - 97,234,410 (-)ENTREZGENE
CHM1_110103,869,314 - 103,887,271 (-)NCBI
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173192   ⟹   NP_775284
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,843,800 (-)NCBI
GRCh3710103,585,731 - 103,603,769 (-)NCBI
Build 3610103,575,721 - 103,593,667 (-)NCBI Archive
HuRef1097,216,464 - 97,234,410 (-)ENTREZGENE
CHM1_110103,869,314 - 103,887,271 (-)NCBI
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173193   ⟹   NP_775285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,843,800 (-)NCBI
GRCh3710103,585,731 - 103,603,769 (-)NCBI
Build 3610103,575,721 - 103,593,667 (-)NCBI Archive
HuRef1097,216,464 - 97,234,410 (-)ENTREZGENE
CHM1_110103,869,314 - 103,887,271 (-)NCBI
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173194   ⟹   NP_775286
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,839,871 (-)NCBI
GRCh3710103,585,731 - 103,603,769 (-)NCBI
Build 3610103,575,721 - 103,589,601 (-)NCBI Archive
HuRef1097,216,464 - 97,234,410 (-)ENTREZGENE
CHM1_110103,869,314 - 103,883,202 (-)NCBI
T2T-CHM13v2.010102,709,458 - 102,723,359 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173195   ⟹   NP_775287
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,843,800 (-)NCBI
GRCh3710103,585,731 - 103,603,769 (-)NCBI
Build 3610103,575,721 - 103,593,667 (-)NCBI Archive
HuRef1097,216,464 - 97,234,410 (-)ENTREZGENE
CHM1_110103,869,314 - 103,887,271 (-)NCBI
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173197   ⟹   NP_775289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,827,641 - 101,843,800 (-)NCBI
GRCh3710103,585,731 - 103,603,769 (-)NCBI
Build 3610103,577,388 - 103,593,667 (-)NCBI Archive
HuRef1097,216,464 - 97,234,410 (-)ENTREZGENE
CHM1_110103,870,981 - 103,887,271 (-)NCBI
T2T-CHM13v2.010102,711,125 - 102,727,289 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269729   ⟹   XP_005269786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,843,800 (-)NCBI
GRCh3710103,585,731 - 103,603,769 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269730   ⟹   XP_005269787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,843,800 (-)NCBI
GRCh3710103,585,731 - 103,603,769 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717812   ⟹   XP_006717875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,843,800 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539731   ⟹   XP_011538033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,839,871 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016161   ⟹   XP_016871650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,825,974 - 101,834,423 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054365681   ⟹   XP_054221656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010102,709,458 - 102,723,359 (-)NCBI
RefSeq Acc Id: XM_054365682   ⟹   XP_054221657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBI
RefSeq Acc Id: XM_054365683   ⟹   XP_054221658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBI
RefSeq Acc Id: XM_054365684   ⟹   XP_054221659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010102,709,458 - 102,727,289 (-)NCBI
RefSeq Acc Id: XM_054365685   ⟹   XP_054221660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010102,709,458 - 102,717,911 (-)NCBI
Protein Sequences
Protein RefSeqs NP_055406 (Get FASTA)   NCBI Sequence Viewer  
  NP_775283 (Get FASTA)   NCBI Sequence Viewer  
  NP_775284 (Get FASTA)   NCBI Sequence Viewer  
  NP_775285 (Get FASTA)   NCBI Sequence Viewer  
  NP_775286 (Get FASTA)   NCBI Sequence Viewer  
  NP_775287 (Get FASTA)   NCBI Sequence Viewer  
  NP_775289 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269786 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269787 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717875 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538033 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871650 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221656 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221657 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221658 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221659 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221660 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF33683 (Get FASTA)   NCBI Sequence Viewer  
  AAG02120 (Get FASTA)   NCBI Sequence Viewer  
  AAG02121 (Get FASTA)   NCBI Sequence Viewer  
  AAH34685 (Get FASTA)   NCBI Sequence Viewer  
  AAK07674 (Get FASTA)   NCBI Sequence Viewer  
  AAK21972 (Get FASTA)   NCBI Sequence Viewer  
  AAK53707 (Get FASTA)   NCBI Sequence Viewer  
  AAK53708 (Get FASTA)   NCBI Sequence Viewer  
  AAK53709 (Get FASTA)   NCBI Sequence Viewer  
  AAK53710 (Get FASTA)   NCBI Sequence Viewer  
  AAK70356 (Get FASTA)   NCBI Sequence Viewer  
  AAP57633 (Get FASTA)   NCBI Sequence Viewer  
  AAX58112 (Get FASTA)   NCBI Sequence Viewer  
  AAZ77797 (Get FASTA)   NCBI Sequence Viewer  
  AAZ77798 (Get FASTA)   NCBI Sequence Viewer  
  AAZ77799 (Get FASTA)   NCBI Sequence Viewer  
  AAZ77800 (Get FASTA)   NCBI Sequence Viewer  
  AAZ77801 (Get FASTA)   NCBI Sequence Viewer  
  ABI51986 (Get FASTA)   NCBI Sequence Viewer  
  BAA96740 (Get FASTA)   NCBI Sequence Viewer  
  BAA96741 (Get FASTA)   NCBI Sequence Viewer  
  BAB55052 (Get FASTA)   NCBI Sequence Viewer  
  BAG37523 (Get FASTA)   NCBI Sequence Viewer  
  BAG51465 (Get FASTA)   NCBI Sequence Viewer  
  BAG52907 (Get FASTA)   NCBI Sequence Viewer  
  BAG58301 (Get FASTA)   NCBI Sequence Viewer  
  BAG62961 (Get FASTA)   NCBI Sequence Viewer  
  CAB66656 (Get FASTA)   NCBI Sequence Viewer  
  CAB77054 (Get FASTA)   NCBI Sequence Viewer  
  EAW49730 (Get FASTA)   NCBI Sequence Viewer  
  EAW49731 (Get FASTA)   NCBI Sequence Viewer  
  EAW49732 (Get FASTA)   NCBI Sequence Viewer  
  EAW49733 (Get FASTA)   NCBI Sequence Viewer  
  EAW49734 (Get FASTA)   NCBI Sequence Viewer  
  EAW49735 (Get FASTA)   NCBI Sequence Viewer  
  EAW49736 (Get FASTA)   NCBI Sequence Viewer  
  EAW49737 (Get FASTA)   NCBI Sequence Viewer  
  EAW49738 (Get FASTA)   NCBI Sequence Viewer  
  EAW49739 (Get FASTA)   NCBI Sequence Viewer  
  EAW49740 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000239117
  ENSP00000239117.3
  ENSP00000239118
  ENSP00000239118.6
  ENSP00000341624
  ENSP00000341624.3
  ENSP00000344169
  ENSP00000344169.4
  ENSP00000349055
  ENSP00000349055.2
  ENSP00000350733
  ENSP00000350733.3
  ENSP00000359063.1
  ENSP00000411679.1
  ENSP00000420040
  ENSP00000420040.1
  ENSP00000495474
  ENSP00000495474.1
GenBank Protein Q9NS61 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_775287   ⟸   NM_173195
- Peptide Label: isoform 6
- UniProtKB: Q09MK0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_775285   ⟸   NM_173193
- Peptide Label: isoform 4
- UniProtKB: Q09MK0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_775284   ⟸   NM_173192
- Peptide Label: isoform 3
- UniProtKB: B3KNV3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_775283   ⟸   NM_173191
- Peptide Label: isoform 2
- UniProtKB: Q9NY10 (UniProtKB/Swiss-Prot),   Q9NS60 (UniProtKB/Swiss-Prot),   Q9HD11 (UniProtKB/Swiss-Prot),   Q9HD10 (UniProtKB/Swiss-Prot),   Q9H0N4 (UniProtKB/Swiss-Prot),   Q96T44 (UniProtKB/Swiss-Prot),   Q96T43 (UniProtKB/Swiss-Prot),   Q96T42 (UniProtKB/Swiss-Prot),   Q96T41 (UniProtKB/Swiss-Prot),   Q96K86 (UniProtKB/Swiss-Prot),   Q7Z6F1 (UniProtKB/Swiss-Prot),   Q3YAC9 (UniProtKB/Swiss-Prot),   Q3YAC8 (UniProtKB/Swiss-Prot),   Q3YAC6 (UniProtKB/Swiss-Prot),   A8MQ75 (UniProtKB/Swiss-Prot),   A6NJE5 (UniProtKB/Swiss-Prot),   Q9NZI1 (UniProtKB/Swiss-Prot),   Q9NS61 (UniProtKB/Swiss-Prot),   B3KNV3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055406   ⟸   NM_014591
- Peptide Label: isoform 1
- UniProtKB: B3KNV3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_775286   ⟸   NM_173194
- Peptide Label: isoform 5
- UniProtKB: B4DW99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_775289   ⟸   NM_173197
- Peptide Label: isoform 7
- UniProtKB: A6NFF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269787   ⟸   XM_005269730
- Peptide Label: isoform X4
- UniProtKB: Q09MK0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269786   ⟸   XM_005269729
- Peptide Label: isoform X3
- UniProtKB: B3KNV3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717875   ⟸   XM_006717812
- Peptide Label: isoform X2
- UniProtKB: B3KNV3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538033   ⟸   XM_011539731
- Peptide Label: isoform X1
- UniProtKB: B4DW99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871650   ⟸   XM_017016161
- Peptide Label: isoform X5
- UniProtKB: A0A2R8Y6D7 (UniProtKB/TrEMBL),   Q09MK0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000359063   ⟸   ENST00000370046
Ensembl Acc Id: ENSP00000239118   ⟸   ENST00000348850
Ensembl Acc Id: ENSP00000341624   ⟸   ENST00000353068
Ensembl Acc Id: ENSP00000495474   ⟸   ENST00000642874
Ensembl Acc Id: ENSP00000411679   ⟸   ENST00000434163
Ensembl Acc Id: ENSP00000349055   ⟸   ENST00000356640
Ensembl Acc Id: ENSP00000239117   ⟸   ENST00000239117
Ensembl Acc Id: ENSP00000420040   ⟸   ENST00000461105
Ensembl Acc Id: ENSP00000344169   ⟸   ENST00000343195
Ensembl Acc Id: ENSP00000350733   ⟸   ENST00000358038
RefSeq Acc Id: XP_054221659   ⟸   XM_054365684
- Peptide Label: isoform X4
- UniProtKB: Q09MK0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221658   ⟸   XM_054365683
- Peptide Label: isoform X3
- UniProtKB: B3KNV3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221657   ⟸   XM_054365682
- Peptide Label: isoform X2
- UniProtKB: B3KNV3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221656   ⟸   XM_054365681
- Peptide Label: isoform X1
- UniProtKB: B4DW99 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221660   ⟸   XM_054365685
- Peptide Label: isoform X5
- UniProtKB: A0A2R8Y6D7 (UniProtKB/TrEMBL),   Q09MK0 (UniProtKB/TrEMBL)
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NS61-F1-model_v2 AlphaFold Q9NS61 1-270 view protein structure

Promoters
RGD ID:7218489
Promoter ID:EPDNEW_H14990
Type:initiation region
Name:KCNIP2_2
Description:potassium voltage-gated channel interacting protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14991  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,839,864 - 101,839,924EPDNEW
RGD ID:7218491
Promoter ID:EPDNEW_H14991
Type:initiation region
Name:KCNIP2_1
Description:potassium voltage-gated channel interacting protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14990  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,843,794 - 101,843,854EPDNEW
RGD ID:6787802
Promoter ID:HG_KWN:10947
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000049971
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,579,656 - 103,580,277 (-)MPROMDB
RGD ID:6787808
Promoter ID:HG_KWN:10948
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:UC001KTX.1,   UC001KTY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,580,416 - 103,580,916 (-)MPROMDB
RGD ID:6787803
Promoter ID:HG_KWN:10949
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000049974
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,589,516 - 103,590,572 (-)MPROMDB
RGD ID:6787800
Promoter ID:HG_KWN:10950
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000049969
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,592,719 - 103,593,219 (-)MPROMDB
RGD ID:6787807
Promoter ID:HG_KWN:10951
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:ENST00000359877,   ENST00000370046,   NM_014591,   NM_173191,   NM_173192,   NM_173193,   NM_173195,   NM_173197,   OTTHUMT00000049968,   OTTHUMT00000049975,   UC009XWU.1,   UC009XWV.1,   UC009XWW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,593,351 - 103,594,112 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15522 AgrOrtholog
COSMIC KCNIP2 COSMIC
Ensembl Genes ENSG00000120049 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000239117 ENTREZGENE
  ENST00000239117.3 UniProtKB/Swiss-Prot
  ENST00000343195 ENTREZGENE
  ENST00000343195.8 UniProtKB/Swiss-Prot
  ENST00000348850 ENTREZGENE
  ENST00000348850.9 UniProtKB/Swiss-Prot
  ENST00000353068 ENTREZGENE
  ENST00000353068.7 UniProtKB/Swiss-Prot
  ENST00000356640 ENTREZGENE
  ENST00000356640.7 UniProtKB/Swiss-Prot
  ENST00000358038 ENTREZGENE
  ENST00000358038.7 UniProtKB/Swiss-Prot
  ENST00000370046.5 UniProtKB/TrEMBL
  ENST00000434163.5 UniProtKB/Swiss-Prot
  ENST00000461105 ENTREZGENE
  ENST00000461105.5 UniProtKB/Swiss-Prot
  ENST00000642874 ENTREZGENE
  ENST00000642874.1 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120049 GTEx
HGNC ID HGNC:15522 ENTREZGENE
Human Proteome Map KCNIP2 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Recoverin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:30819 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 30819 ENTREZGENE
OMIM 604661 OMIM
PANTHER KV CHANNEL-INTERACTING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23055 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNIP2 RGD, PharmGKB
PRINTS RECOVERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y6D7 ENTREZGENE, UniProtKB/TrEMBL
  A6NFF4 ENTREZGENE, UniProtKB/TrEMBL
  A6NJE5 ENTREZGENE
  A6QL43_HUMAN UniProtKB/TrEMBL
  A8MQ75 ENTREZGENE
  B3KNV3 ENTREZGENE, UniProtKB/TrEMBL
  B3KSZ5_HUMAN UniProtKB/TrEMBL
  B4DW99 ENTREZGENE, UniProtKB/TrEMBL
  KCIP2_HUMAN UniProtKB/Swiss-Prot
  Q09MK0 ENTREZGENE, UniProtKB/TrEMBL
  Q3YAC6 ENTREZGENE
  Q3YAC8 ENTREZGENE
  Q3YAC9 ENTREZGENE
  Q7Z6F1 ENTREZGENE
  Q96K86 ENTREZGENE
  Q96T41 ENTREZGENE
  Q96T42 ENTREZGENE
  Q96T43 ENTREZGENE
  Q96T44 ENTREZGENE
  Q9H0N4 ENTREZGENE
  Q9HD10 ENTREZGENE
  Q9HD11 ENTREZGENE
  Q9NS60 ENTREZGENE
  Q9NS61 ENTREZGENE
  Q9NY10 ENTREZGENE
  Q9NZI1 ENTREZGENE
UniProt Secondary A6NJE5 UniProtKB/Swiss-Prot
  A8MQ75 UniProtKB/Swiss-Prot
  Q3YAC6 UniProtKB/Swiss-Prot
  Q3YAC8 UniProtKB/Swiss-Prot
  Q3YAC9 UniProtKB/Swiss-Prot
  Q7Z6F1 UniProtKB/Swiss-Prot
  Q96K86 UniProtKB/Swiss-Prot
  Q96T41 UniProtKB/Swiss-Prot
  Q96T42 UniProtKB/Swiss-Prot
  Q96T43 UniProtKB/Swiss-Prot
  Q96T44 UniProtKB/Swiss-Prot
  Q9H0N4 UniProtKB/Swiss-Prot
  Q9HD10 UniProtKB/Swiss-Prot
  Q9HD11 UniProtKB/Swiss-Prot
  Q9NS60 UniProtKB/Swiss-Prot
  Q9NY10 UniProtKB/Swiss-Prot
  Q9NZI1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNIP2  potassium voltage-gated channel interacting protein 2  KCNIP2  Kv channel interacting protein 2  Symbol and/or name change 5135510 APPROVED