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Gene: CAMK2N1 (calcium/calmodulin dependent protein kinase II inhibitor 1) Homo sapiens

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Symbol:

CAMK2N1

Name:

calcium/calmodulin dependent protein kinase II inhibitor 1

RGD ID:

1602218

HGNC Page

HGNC:24190

Description:

Predicted to enable calcium-dependent protein kinase inhibitor activity and protein kinase binding activity. Predicted to be involved in long-term memory and positive regulation of inflammatory response. Predicted to be located in neuronal cell body and synapse. Implicated in ovarian cancer; ovarian carcinoma; and prostate adenocarcinoma. Biomarker of hepatocellular carcinoma; oral squamous cell carcinoma; papillary thyroid carcinoma; and prostate cancer.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

calcium/calmodulin-dependent protein kinase II inhibitor 1; caMKII inhibitory protein alpha; caMKIIN-alpha; CaMKIINalpha; MGC22256; PRO1489; RP11-401M16.1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	20,482,391 - 20,486,210 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	20,482,391 - 20,486,210 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	20,808,884 - 20,812,703 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	20,681,471 - 20,685,315 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	19,133,214 - 19,137,058 (-)	NCBI		Celera
Cytogenetic Map	1	p36.12	NCBI
HuRef	1	19,055,013 - 19,058,818 (-)	NCBI		HuRef
CHM1_1	1	20,919,287 - 20,923,131 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	20,307,345 - 20,311,164 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (IAGP)

alcohol use disorder (ISO)

congenital disorder of glycosylation Ir (IAGP)

COVID-19 (HEP)

hepatocellular carcinoma (IEP)

hyperprolinemia type 2 (IAGP)

Japanese encephalitis (ISO)

oral squamous cell carcinoma (IEP)

ovarian cancer (IDA)

ovarian carcinoma (IDA)

papillary thyroid carcinoma (IEP)

Parkinson's disease 6 (IAGP)

prostate adenocarcinoma (IMP)

prostate cancer (IEP)

rabies (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene (ISO)

1-naphthyl isothiocyanate (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4,4'-trichlorobiphenyl (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (EXP)

2,4-dinitrotoluene (ISO)

3,3',4,4',5-pentachlorobiphenyl (ISO)

3,3',4,4'-tetrachlorobiphenyl (ISO)

3,3',5,5'-tetrabromobisphenol A (ISO)

3,4-methylenedioxymethamphetamine (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

5-aza-2'-deoxycytidine (EXP)

6-propyl-2-thiouracil (ISO)

8-Br-cAMP (EXP)

alcohol (ISO)

all-trans-retinoic acid (EXP,ISO)

Aroclor 1254 (ISO)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

choline (ISO)

chromium(6+) (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

copper atom (ISO)

copper(0) (ISO)

copper(II) chloride (EXP)

coumestrol (EXP)

Cuprizon (ISO)

cyclosporin A (EXP,ISO)

cytarabine (EXP)

DDE (EXP)

dimethylarsinous acid (EXP)

dorsomorphin (EXP)

Enterolactone (EXP)

entinostat (EXP)

ethanol (ISO)

fipronil (ISO)

folic acid (ISO)

fulvestrant (EXP)

furan (ISO)

genistein (EXP)

glycidol (ISO)

Heptachlor epoxide (ISO)

indole-3-methanol (ISO)

inulin (ISO)

L-methionine (ISO)

lead(0) (EXP)

lipopolysaccharide (EXP)

menadione (EXP)

mercury dibromide (EXP)

methapyrilene (ISO)

methylmercury chloride (EXP)

mitoxantrone (EXP)

mono(2-ethylhexyl) phthalate (ISO)

nickel atom (EXP)

ozone (ISO)

p-chloromercuribenzoic acid (EXP)

paracetamol (EXP,ISO)

parathion (ISO)

PCB138 (ISO)

pentanal (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (EXP,ISO)

phenylmercury acetate (EXP)

potassium dichromate (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

progesterone (EXP)

propanal (EXP)

propiconazole (ISO)

resveratrol (EXP)

rotenone (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP,ISO)

sodium dodecyl sulfate (EXP)

sulforaphane (EXP)

sunitinib (EXP)

temozolomide (EXP)

tert-butyl hydroperoxide (EXP)

tetrachloromethane (ISO)

thiram (EXP)

titanium dioxide (ISO)

Tributyltin oxide (ISO)

trichostatin A (EXP)

triclosan (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

XL147 (ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

long-term memory (IEA,ISS)

positive regulation of inflammatory response (IEA,ISS)

positive regulation of insulin secretion involved in cellular response to glucose stimulus (ISO)

positive regulation of systemic arterial blood pressure (ISO)

Cellular Component

cell projection (IEA)

dendrite (IEA,ISO)

neuronal cell body (ISO)

postsynaptic density (IEA)

synapse (IEA,ISS)

Molecular Function

calcium-dependent protein kinase inhibitor activity (IBA)

protein kinase binding (IBA,ISO)

protein kinase inhibitor activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

calcium/calmodulin dependent kinase 2 signaling pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Expression of EMT-Related Genes CAMK2N1 and WNT5A is increased in Locally Invasive and Metastatic Prostate Cancer.	Carneiro I, etal., J Cancer. 2019 Oct 15;10(24):5915-5925. doi: 10.7150/jca.34564. eCollection 2019.
2.	Loss of control over the ethanol consumption: differential transcriptional regulation in prefrontal cortex.	de Paiva Lima C, etal., J Neurogenet. 2017 Sep;31(3):170-177. doi: 10.1080/01677063.2017.1349121. Epub 2017 Jul 17.
3.	RUNX3 and CAMK2N1 hypermethylation as prognostic marker for epithelial ovarian cancer.	Häfner N, etal., Int J Cancer. 2016 Jan 1;138(1):217-28. doi: 10.1002/ijc.29690. Epub 2015 Jul 28.
4.	DNA microarray and miRNA analyses reinforce the classification of follicular thyroid tumors.	Jacques C, etal., J Clin Endocrinol Metab. 2013 May;98(5):E981-9. doi: 10.1210/jc.2012-4006. Epub 2013 Apr 8.
5.	miR-182-5p Promotes Growth in Oral Squamous Cell Carcinoma by Inhibiting CAMK2N1.	Li N, etal., Cell Physiol Biochem. 2018;49(4):1329-1341. doi: 10.1159/000493411. Epub 2018 Sep 11.
6.	Novel insights into CaMKII function and regulation during memory formation.	Lucchesi W, etal., Brain Res Bull. 2011 Apr 25;85(1-2):2-8. doi: 10.1016/j.brainresbull.2010.10.009. Epub 2010 Nov 9.
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	Patient-derived ovarian cancer xenografts re-growing after a cisplatinum treatment are less responsive to a second drug re-challenge: a new experimental setting to study response to therapy.	Ricci F, etal., Oncotarget. 2017 Jan 31;8(5):7441-7451. doi: 10.18632/oncotarget.7465.
9.	Regulation of Ca2+/calmodulin kinase II inhibitor alpha (CaMKIINalpha) in virus-infected mouse brain.	Saha S, etal., Biochem Biophys Res Commun. 2006 Nov 17;350(2):444-9. doi: 10.1016/j.bbrc.2006.09.066. Epub 2006 Sep 22.
10.	Controlling the cell cycle: the role of calcium/calmodulin-stimulated protein kinases I and II.	Skelding KA, etal., Cell Cycle. 2011 Feb 15;10(4):631-9. Epub 2011 Feb 15.
11.	Upregulation of T-cell factor-4 isoform-responsive target genes in hepatocellular carcinoma.	Tomimaru Y, etal., Liver Int. 2013 Aug;33(7):1100-12. doi: 10.1111/liv.12188. Epub 2013 May 8.
12.	The tumor suppressive role of CAMK2N1 in castration-resistant prostate cancer.	Wang T, etal., Oncotarget. 2014 Jun 15;5(11):3611-21. doi: 10.18632/oncotarget.1968.
13.	Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients.	Won HH, etal., Cancer. 2012 Jun 1;118(11):2828-36. doi: 10.1002/cncr.26614. Epub 2011 Oct 21.
14.	Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients.	Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.

Additional References at PubMed

PMID:12175859	PMID:12477932	PMID:12650977	PMID:19322201	PMID:21873635	PMID:25296973	PMID:28005267	PMID:28611215	PMID:31452083	PMID:31741433	PMID:31876385	PMID:32393512
PMID:32707033	PMID:32902386	PMID:33068700	PMID:35998547	PMID:36736316	PMID:38180718	PMID:38980439

Genomics

Comparative Map Data

CAMK2N1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	20,482,391 - 20,486,210 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	20,482,391 - 20,486,210 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	20,808,884 - 20,812,703 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	20,681,471 - 20,685,315 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	19,133,214 - 19,137,058 (-)	NCBI		Celera
Cytogenetic Map	1	p36.12	NCBI
HuRef	1	19,055,013 - 19,058,818 (-)	NCBI		HuRef
CHM1_1	1	20,919,287 - 20,923,131 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	20,307,345 - 20,311,164 (-)	NCBI		T2T-CHM13v2.0

Camk2n1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	138,182,459 - 138,187,437 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	138,181,625 - 138,187,434 (+)	Ensembl		GRCm39 Ensembl
GRCm38	4	138,455,148 - 138,460,126 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	138,454,314 - 138,460,123 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	138,011,063 - 138,016,041 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	136,043,940 - 136,058,301 (+)	NCBI		MGSCv36	mm8
MGSCv36	4	137,725,651 - 137,730,594 (+)	NCBI		MGSCv36	mm8
Celera	4	140,239,091 - 140,244,093 (+)	NCBI		Celera
Cytogenetic Map	4	D3	NCBI
cM Map	4	70.3	NCBI

Camk2n1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	155,958,116 - 155,959,897 (+)	NCBI		GRCr8
GRCr8 Ensembl	5	155,957,878 - 155,961,058 (+)	Ensembl		GRCr8 Ensembl
mRatBN7.2	5	150,674,819 - 150,676,600 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	150,673,507 - 150,676,600 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	153,371,504 - 153,373,282 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	155,145,792 - 155,147,571 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	155,127,794 - 155,129,574 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	156,876,706 - 156,878,486 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	156,876,706 - 156,878,486 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	160,625,616 - 160,627,396 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	157,235,534 - 157,237,314 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	5	149,065,196 - 149,066,976 (+)	NCBI		Celera
RGSC_v3.1	5	157,245,572 - 157,247,353 (+)	NCBI
Cytogenetic Map	5	q36	NCBI

Camk2n1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955452	1,043,459 - 1,046,669 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955452	1,044,696 - 1,046,657 (-)	NCBI	ChiLan1.0	ChiLan1.0

CAMK2N1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	206,633,219 - 206,636,276 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	205,750,123 - 205,753,105 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	19,437,761 - 19,441,573 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	20,479,559 - 20,482,600 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	20,479,562 - 20,482,600 (-)	Ensembl	panpan1.1		panPan2

CAMK2N1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Dog10K_Boxer_Tasha	2	74,928,874 - 74,931,940 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	78,981,714 - 78,984,779 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	2	75,800,282 - 75,803,341 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	76,812,085 - 76,815,128 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	77,815,680 - 77,818,746 (+)	NCBI		UU_Cfam_GSD_1.0

Camk2n1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	40,638,909 - 40,641,859 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	6,461,050 - 6,466,641 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	6,463,691 - 6,466,641 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CAMK2N1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	78,730,206 - 78,733,740 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	78,730,204 - 78,734,232 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	72,919,019 - 72,922,690 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CAMK2N1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	112,064,718 - 112,068,505 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	112,065,581 - 112,067,256 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	4,148,834 - 4,152,590 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Camk2n1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624764	5,544,484 - 5,547,683 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624764	5,544,589 - 5,547,811 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CAMK2N1
1 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	copy number loss	See cases [RCV000051146]	Chr1:15385267..20980349 [GRCh38] Chr1:15711763..21306842 [GRCh37] Chr1:15584350..21179429 [NCBI36] Chr1:1p36.21-36.12	pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3	copy number gain	See cases [RCV000051797]	Chr1:13110797..20670207 [GRCh38] Chr1:13178269..20996700 [GRCh37] Chr1:13100856..20869287 [NCBI36] Chr1:1p36.21-36.12	pathogenic
GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	copy number loss	See cases [RCV000053796]	Chr1:20482657..21271999 [GRCh38] Chr1:20809150..21598492 [GRCh37] Chr1:20681737..21471079 [NCBI36] Chr1:1p36.12	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	copy number loss	See cases [RCV000053789]	Chr1:18347821..22512894 [GRCh38] Chr1:18674315..22839387 [GRCh37] Chr1:18546902..22711974 [NCBI36] Chr1:1p36.13-36.12	pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1	copy number loss	See cases [RCV000053760]	Chr1:10556797..22557907 [GRCh38] Chr1:10616854..22884400 [GRCh37] Chr1:10539441..22756987 [NCBI36] Chr1:1p36.22-36.12	pathogenic
GRCh38/hg38 1p36.12(chr1:20374020-20736151)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053794]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053794]\|See cases [RCV000053794]	Chr1:20374020..20736151 [GRCh38] Chr1:20700513..21062644 [GRCh37] Chr1:20573100..20935231 [NCBI36] Chr1:1p36.12	pathogenic
GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	copy number loss	See cases [RCV000138079]	Chr1:19548795..20935131 [GRCh38] Chr1:19875289..21261624 [GRCh37] Chr1:19747876..21134211 [NCBI36] Chr1:1p36.13-36.12	likely pathogenic\|uncertain significance
chr1:17555508-24706269 complex variant	complex	Breast ductal adenocarcinoma [RCV000207266]	Chr1:17555508..24706269 [GRCh37] Chr1:1p36.13-36.11	uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1	copy number loss	See cases [RCV000446470]	Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.13-36.12(chr1:20067124-22537862)x1	copy number loss	See cases [RCV000447314]	Chr1:20067124..22537862 [GRCh37] Chr1:1p36.13-36.12	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
NC_000001.10:g.(?_19199339)_(22987879_?)dup	duplication	Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]\|Congenital disorder of glycosylation type Ir [RCV003113321]\|Hyperprolinemia type 2 [RCV003107740]	Chr1:19199339..22987879 [GRCh37] Chr1:1p36.13-36.12	uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	copy number loss	1p36.1 deletion syndrome [RCV001614471]	Chr1:16785250..23491592 [GRCh37] Chr1:1p36.13-36.12	pathogenic
GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	copy number loss	not provided [RCV001259567]	Chr1:17284906..21778495 [GRCh37] Chr1:1p36.13-36.12	pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	copy number loss	not provided [RCV004577440]	Chr1:4436802..22782007 [GRCh37] Chr1:1p36.32-36.12	pathogenic
NM_018584.6(CAMK2N1):c.22G>C (p.Gly8Arg)	single nucleotide variant	not specified [RCV004434644]	Chr1:20485358 [GRCh38] Chr1:20811851 [GRCh37] Chr1:1p36.12	uncertain significance
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	copy number loss	not provided [RCV001259568]	Chr1:16041431..21295864 [GRCh37] Chr1:1p36.21-36.12	pathogenic
NC_000001.10:g.(?_19199339)_(24690861_?)dup	duplication	Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155]	Chr1:19199339..24690861 [GRCh37] Chr1:1p36.13-36.11	uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	copy number gain	not provided [RCV003485339]	Chr1:17291707..23016395 [GRCh37] Chr1:1p36.13-36.12	likely pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	465
Count of miRNA genes:	359
Interacting mature miRNAs:	373
Transcripts:	ENST00000375078, ENST00000489020
Prediction methods:	Miranda, Rnahybrid
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.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1298451	OSTEAR17_H	Osteoarthritis QTL 17 (human)	2.4	0.0004	Joint/bone inflammation	osteoarthritis	11	1	25188105	Human
1576329	MYI9_H	Myocardial infarction susceptibility QTL 9 (human)	12		Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human
1298463	BP9_H	Blood pressure QTL 9 (human)	3.9		Blood pressure	hypertension susceptibility	1	1	25188105	Human
1576325	MYI1_H	Myocardial infarction susceptibility QTL 1 (human)	11.68	1e-12	Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human
1643380	BW316_H	Body weight QTL 316 (human)	2.62	0.0002	Body weight	BMI	1	7585503	33585503	Human

Markers in Region

SHGC-35895

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	20,809,445 - 20,809,559	UniSTS	GRCh37
Build 36	1	20,682,032 - 20,682,146	RGD	NCBI36
Celera	1	19,133,775 - 19,133,889	RGD
Cytogenetic Map	1	p36.12	UniSTS
HuRef	1	19,055,576 - 19,055,690	UniSTS
Stanford-G3 RH Map	1	944.0	UniSTS
GeneMap99-G3 RH Map	1	1214.0	UniSTS

SHGC-74338

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	20,808,905 - 20,809,009	UniSTS	GRCh37
Build 36	1	20,681,492 - 20,681,596	RGD	NCBI36
Celera	1	19,133,235 - 19,133,339	RGD
Cytogenetic Map	1	p36.12	UniSTS
HuRef	1	19,055,034 - 19,055,138	UniSTS
TNG Radiation Hybrid Map	1	8052.0	UniSTS
GeneMap99-GB4 RH Map	1	75.38	UniSTS
GeneMap99-GB4 RH Map	1	77.77	UniSTS
Whitehead-RH Map	1	68.2	UniSTS

SHGC-74356

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	20,809,286 - 20,809,426	UniSTS	GRCh37
Build 36	1	20,681,873 - 20,682,013	RGD	NCBI36
Celera	1	19,133,616 - 19,133,756	RGD
Cytogenetic Map	1	p36.12	UniSTS
HuRef	1	19,055,415 - 19,055,557	UniSTS
TNG Radiation Hybrid Map	1	8037.0	UniSTS
GeneMap99-GB4 RH Map	1	78.38	UniSTS
NCBI RH Map	1	110.0	UniSTS

HSC1IC062

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	20,809,935 - 20,810,152	UniSTS	GRCh37
Build 36	1	20,682,522 - 20,682,739	RGD	NCBI36
Celera	1	19,134,265 - 19,134,482	RGD
Cytogenetic Map	1	p36.12	UniSTS
HuRef	1	19,056,066 - 19,056,283	UniSTS
Whitehead-RH Map	1	76.2	UniSTS

SHGC-74339

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	20,809,787 - 20,809,859	UniSTS	GRCh37
Build 36	1	20,682,374 - 20,682,446	RGD	NCBI36
Celera	1	19,134,117 - 19,134,189	RGD
Cytogenetic Map	1	p36.12	UniSTS
HuRef	1	19,055,918 - 19,055,990	UniSTS
TNG Radiation Hybrid Map	1	8057.0	UniSTS
GeneMap99-GB4 RH Map	1	75.38	UniSTS
NCBI RH Map	1	110.0	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2438	2788	2248	4973	1725	2350	5	624	1820	465	2269	7176	6343	49	3734	1	852	1743	1614	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_018584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL391357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY204901	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020630	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI820748	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB475389	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000375078 ⟹ ENSP00000364219

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	20,482,391 - 20,486,210 (-)	Ensembl

Ensembl Acc Id:

ENST00000489020

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	20,483,187 - 20,484,645 (-)	Ensembl

RefSeq Acc Id:

NM_018584 ⟹ NP_061054

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	20,482,391 - 20,486,210 (-)	NCBI
GRCh37	1	20,808,884 - 20,812,728 (-)	RGD
Build 36	1	20,681,471 - 20,685,315 (-)	NCBI Archive
Celera	1	19,133,214 - 19,137,058 (-)	RGD
HuRef	1	19,055,013 - 19,058,818 (-)	RGD
CHM1_1	1	20,919,287 - 20,923,131 (-)	NCBI
T2T-CHM13v2.0	1	20,307,345 - 20,311,164 (-)	NCBI

Sequence:

show sequence

ATTTCTCCTCGCAGCTCGCTGCCTCCTCTATCCCTGCCTCCCTCTCCCCCCTCTGTTTTTCTCC
CTTCCTTCCCTCTCCGACCCTCTTCCTCTCCCTCCCGATCCTTTCCCTCCTCCTCTCATCTTTC
CCCTGTCTCTCCGTTCTAGCTCGTCCCCCACCCCACCTTTTCTTCTTTCTCCTCCTCTCCTTCC
TCTCCCCCTCTCCTCTGTCTCCTTCCACCGTCTCCCCTGCCTCCCTGTCTTTCAGTCCCTGTTT
TTCAGCCCCGTCTCCCTCTCGGTTTCTCTCCCCCACCCTCCCTCCGGGTTTCCTCCCCGGTGCC
CTCCCTCCTCTCTCCCTCCCCTCCCCCTCCGCCCCTCGCAGCCCCGCCGCTCGCAGCTCCCAGT
CTGCCTCCCCGAACCGGCGCCGCCGCCCGCACTCGCCGCAGGACCGGCCCGCCCGGCTCCCGGG
GTGCGCCCTCCTCGGTCCCGCGCCCTCCGGGCTCGCAGGGACGTCTCCTCCCTCCCGGCTCGCG
GCCCCGCCCGGCCCGGCCCCCGCCCAGAGCCCCAGCGCGCCGAGGATGTGAGTCCTGCTCGCCT
CTGGCGGAGCAGCAGCCACTCGCGCGCGGAGCCGGAGCGCAGCGCAGCGCAGCCGCGGGCGCTC
TCCGGGCCGCTCGCGCGAGTGCCGCGCTCTTGCCCTAGCGGCGTCCCCCGGCCTCTCGCCGGCG
CCACCGCCGCAGCAGCCCGCGGGCCGTCCCCGGCCGGCCGCCCCCGGCCCCAGCGCCGCTGACC
CTGTCCGCCGCGGGCGGGGACGCGGGCGGAGGAGGCGCCGCGGCGGAGCCCCCGGACGCGACCA
TGTCGGAGGTGCTGCCCTACGGCGACGAGAAGCTGAGCCCCTACGGCGACGGCGGCGACGTGGG
CCAGATCTTCTCCTGCCGCCTGCAGGACACCAACAACTTCTTCGGCGCCGGGCAGAACAAGCGG
CCGCCCAAGCTGGGCCAGATCGGCCGGAGCAAGCGGGTTGTTATTGAAGATGATAGGATTGATG
ACGTGCTGAAAAATATGACCGACAAGGCACCTCCTGGTGTCTAACTCCCCCAAAGACAATGAGT
TAAGGGAGAGAATAAGAACGGCGGTAACAGTTATTGGCAAAAAGCATGAAAAGAGAAAGCACTT
TGAAATTTATTACTAGCTTGCTACCCACGATGAAATCAACAACCTGTATCTGGTATCAGGCCGG
GAGACAGATGAGGCGAGAGGAGGAGGAGGAGGAGGAGAAGGCTCTGGGCTCCTCTGCAAAAATA
AAAATAAAAAAATAAATAAAATTTTAAAAATAATAAAAATTCACTATATACACATATAAAGAAA
TAAAAAGAAGTCTCAGTTGCAGCTATTTGTCAAAATTAATATCCATTTCTTTTTATATACGGTG
AATATTGCGCAATTATAGATCTGGATTTTGAACCACTTAATGAAGCGGCAACACCAGGTGTTTT
GAGGTGTTGGCATTCTTCGCTGATTTGGCTGTTCCCAATGTTTACATTATTTAATCTTGCAAAA
ATGGTTCTGTGCACTTGGATGTGAAATGCTGTCCAGTTTTATTTTTTTTATGTTGTTATCCTTG
GATGTACAAAAAATTCAGAAAATGATCTCTGTAGATATTCTGTTTTATTTTGGTCATCTTTAGA
AGTTATCAGGAATGTGTTTAAAACAAGAAGAGAACTTTTCTAAGGAATGATACATAGAAAAGAT
TTTATTTTAAAATGAGTTGTAAAGCTTGTGTTTCTTTGTTGCTGCAAGCTATCTGCCCAAGTTA
ATGCAAATGGACACATTTTTTATGTCAGAAAAACACACACACACACACACACACACACACACAC
ACACGAAAAACAAAGAAAAAAATGCTTGAGCTTTTTCTAACTTCCCCTTGCAGTCTGTTGTGTG
AGCAGCCTGTTTATTTCTCTAATATTATGTCAGTTTATTCTCTTTAATGGACTGTAAAAAAATG
TAATCACAAGAGTGCCAAATATCTTGAAATGCCAAAAGGCATTTTAGTTTCTTTTCTCTGTGCT
CTGAGTCCACGTACAGGAATGCTTGGAGTGTCTTTTCTGTTATTTATAGGGATTCTCTTAAGGC
ACACCAGCTGCCTGTTTTGCATGGTATTTGCAAAAATGCCTCTTGCGTGAGGAAATCTTTTACC
ATTTTTTGTTTGCAACTTTGGACCTCAAGAGGTTTCCCTTCCCTTCCCCGTTCCCTCTTTTCTT
AATTCAATATTCTGTATGTTGCACCTTGAACCAGCACACAGGGCTATTTCTCCAATGTACAATA
AAAGAATTGTTCCTGTGTCTCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_061054	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH20630	(Get FASTA)	NCBI Sequence Viewer
	AAO49802	(Get FASTA)	NCBI Sequence Viewer
	EAW94923	(Get FASTA)	NCBI Sequence Viewer
	EAW94924	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000364219
	ENSP00000364219.3
GenBank Protein	Q7Z7J9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_061054 ⟸ NM_018584
- UniProtKB:	Q7Z7J9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSEVLPYGDEKLSPYGDGGDVGQIFSCRLQDTNNFFGAGQNKRPPKLGQIGRSKRVVIEDDRID DVLKNMTDKAPPGV hide sequence

Ensembl Acc Id:

ENSP00000364219 ⟸ ENST00000375078

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q7Z7J9-F1-model_v2	AlphaFold	Q7Z7J9	1-78	view protein structure

Promoters

RGD ID:

6854370

Promoter ID:

EPDNEW_H349

Type:

initiation region

Name:

CAMK2N1_2

Description:

calcium/calmodulin dependent protein kinase II inhibitor 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H350

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	20,485,617 - 20,485,677	EPDNEW

RGD ID:

6854372

Promoter ID:

EPDNEW_H350

Type:

initiation region

Name:

CAMK2N1_1

Description:

calcium/calmodulin dependent protein kinase II inhibitor 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H349

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	20,486,204 - 20,486,264	EPDNEW

RGD ID:

6784836

Promoter ID:

HG_KWN:1141

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562

Transcripts:

NM_018584

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	20,685,196 - 20,685,696 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24190	AgrOrtholog
COSMIC	CAMK2N1	COSMIC
Ensembl Genes	ENSG00000162545	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000375078	ENTREZGENE
	ENST00000375078.4	UniProtKB/Swiss-Prot
GTEx	ENSG00000162545	GTEx
HGNC ID	HGNC:24190	ENTREZGENE
Human Proteome Map	CAMK2N1	Human Proteome Map
InterPro	Camk2n	UniProtKB/Swiss-Prot
KEGG Report	hsa:55450	UniProtKB/Swiss-Prot
NCBI Gene	55450	ENTREZGENE
OMIM	614986	OMIM
PANTHER	CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITOR 1	UniProtKB/Swiss-Prot
	PTHR31007	UniProtKB/Swiss-Prot
Pfam	CaM-KIIN	UniProtKB/Swiss-Prot
PharmGKB	PA142672209	PharmGKB
UniProt	CK2N1_HUMAN	UniProtKB/Swiss-Prot
	Q7L2B8_HUMAN	UniProtKB/TrEMBL
	Q7Z7J9	ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-12	CAMK2N1	calcium/calmodulin dependent protein kinase II inhibitor 1		calcium/calmodulin-dependent protein kinase II inhibitor 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

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Imported Disease Annotations - ClinVar

RGD Manual Annotations