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Gene: Pkd2l2 (polycystin 2 like 2, transient receptor potential cation channel) Rattus norvegicus

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Symbol:

Pkd2l2

Name:

polycystin 2 like 2, transient receptor potential cation channel

RGD ID:

1310272

Description:

Predicted to enable calcium channel activity. Predicted to be involved in detection of mechanical stimulus. Predicted to be active in membrane. Orthologous to human PKD2L2 (polycystin 2 like 2, transient receptor potential cation channel); INTERACTS WITH bisphenol A; cocaine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog).

Type:

protein-coding

RefSeq Status:

PROVISIONAL

Previously known as:

LOC291683; polycystic kidney disease 2-like 2; polycystin-2-like protein 2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

GRCr8 - GRCr8 Assembly

Position:

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	26,281,719 - 26,316,583 (+)	NCBI		GRCr8
mRatBN7.2	18	26,007,789 - 26,042,428 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	26,007,797 - 26,042,428 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	26,135,200 - 26,169,822 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	26,898,234 - 26,933,379 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	26,233,139 - 26,268,285 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	27,190,661 - 27,225,488 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	27,190,974 - 27,225,488 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	26,904,093 - 26,938,848 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	26,876,459 - 26,911,433 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	26,884,533 - 26,934,194 (+)	NCBI
Celera	18	25,748,845 - 25,782,225 (+)	NCBI		Celera
Cytogenetic Map	18	p12	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Pkd2l2	Rat	autosomal dominant intellectual developmental disorder 31		ISO	RGD:1321074	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28492532
Pkd2l2	Rat	familial adenomatous polyposis 1		ISO	RGD:1321074	8554872	ClinVar Annotator: match by term: Familial adenomatous polyposis 1	ClinVar	PMID:17963004\|PMID:18487285\|PMID:19279422\|PMID:19409520\|PMID:20685668\|PMID:21643010\|PMID:28492532
Pkd2l2	Rat	Hereditary Neoplastic Syndromes		ISO	RGD:1321074	8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:17963004\|PMID:18487285\|PMID:19279422\|PMID:19409520\|PMID:20685668\|PMID:21643010\|PMID:28492532
Pkd2l2	Rat	myofibrillar myopathy 3		ISO	RGD:1321074	8554872	ClinVar Annotator: match by term: Myofibrillar myopathy 3	ClinVar	PMID:18321925\|PMID:39757377
Pkd2l2	Rat	Neurodevelopmental Disorders		ISO	RGD:1321074	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
Pkd2l2	Rat	STING-associated vasculopathy with onset in infancy		ISO	RGD:1321074	8554872	ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy	ClinVar	PMID:28492532

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Pkd2l2	Rat	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1321075	6480464	Tetrachlorodibenzodioxin affects the expression of PKD2L2 mRNA	CTD	PMID:21570461
Pkd2l2	Rat	2,4-dibromophenyl 2,4,5-tribromophenyl ether	affects expression	ISO	RGD:1321075	6480464	2,2',4,4',5-brominated diphenyl ether affects the expression of PKD2L2 mRNA	CTD	PMID:38648751
Pkd2l2	Rat	4-hydroxyphenyl retinamide	decreases expression	ISO	RGD:1321075	6480464	Fenretinide results in decreased expression of PKD2L2 mRNA	CTD	PMID:28973697
Pkd2l2	Rat	benzo[a]pyrene	affects methylation	ISO	RGD:1321074	6480464	Benzo(a)pyrene affects the methylation of PKD2L2 exon	CTD	PMID:27901495
Pkd2l2	Rat	benzo[a]pyrene	decreases methylation	ISO	RGD:1321074	6480464	Benzo(a)pyrene results in decreased methylation of PKD2L2 promoter	CTD	PMID:27901495
Pkd2l2	Rat	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of PKD2L2 mRNA	CTD	PMID:25181051
Pkd2l2	Rat	bisphenol A	increases expression	ISO	RGD:1321075	6480464	bisphenol A results in increased expression of PKD2L2 mRNA	CTD	PMID:33221593
Pkd2l2	Rat	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of PKD2L2 mRNA	CTD	PMID:33296240
Pkd2l2	Rat	bisphenol A	increases methylation	EXP		6480464	bisphenol A results in increased methylation of PKD2L2 gene	CTD	PMID:28505145
Pkd2l2	Rat	chlorpyrifos	increases expression	ISO	RGD:1321075	6480464	Chlorpyrifos results in increased expression of PKD2L2 mRNA	CTD	PMID:37019170
Pkd2l2	Rat	choline	multiple interactions	ISO	RGD:1321075	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression more ...	CTD	PMID:20938992
Pkd2l2	Rat	cocaine	increases expression	EXP		6480464	Cocaine results in increased expression of PKD2L2 mRNA	CTD	PMID:17898221
Pkd2l2	Rat	Dibutyl phosphate	affects expression	ISO	RGD:1321074	6480464	di-n-butylphosphoric acid affects the expression of PKD2L2 mRNA	CTD	PMID:37042841
Pkd2l2	Rat	folic acid	multiple interactions	ISO	RGD:1321075	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression more ...	CTD	PMID:20938992
Pkd2l2	Rat	folic acid	increases expression	ISO	RGD:1321075	6480464	Folic Acid results in increased expression of PKD2L2 mRNA	CTD	PMID:25629700
Pkd2l2	Rat	L-methionine	multiple interactions	ISO	RGD:1321075	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression more ...	CTD	PMID:20938992
Pkd2l2	Rat	lead(0)	increases expression	ISO	RGD:1321074	6480464	Lead results in increased expression of PKD2L2 mRNA	CTD	PMID:19921347
Pkd2l2	Rat	methotrexate	affects expression	ISO	RGD:1321075	6480464	Methotrexate affects the expression of PKD2L2 mRNA	CTD	PMID:18502557
Pkd2l2	Rat	perfluorohexanesulfonic acid	increases expression	ISO	RGD:1321074	6480464	perfluorohexanesulfonic acid results in increased expression of PKD2L2 mRNA	CTD	PMID:25812627
Pkd2l2	Rat	perfluorooctane-1-sulfonic acid	increases expression	ISO	RGD:1321074	6480464	perfluorooctane sulfonic acid results in increased expression of PKD2L2 mRNA	CTD	PMID:25812627
Pkd2l2	Rat	potassium dichromate	decreases expression	ISO	RGD:1321075	6480464	Potassium Dichromate results in decreased expression of PKD2L2 mRNA	CTD	PMID:23608068
Pkd2l2	Rat	sodium arsenite	multiple interactions	ISO	RGD:1321074	6480464	[sodium arsenite affects the acetylation of H3-4 protein] which affects the methylation of PKD2L2 promoter	CTD	PMID:18448484
Pkd2l2	Rat	sodium arsenite	decreases expression	ISO	RGD:1321074	6480464	sodium arsenite results in decreased expression of PKD2L2 mRNA	CTD	PMID:34032870
Pkd2l2	Rat	titanium dioxide	increases expression	ISO	RGD:1321075	6480464	titanium dioxide results in increased expression of PKD2L2 mRNA	CTD	PMID:29264374
Pkd2l2	Rat	titanium dioxide	decreases methylation	ISO	RGD:1321075	6480464	titanium dioxide results in decreased methylation of PKD2L2 gene	CTD	PMID:35295148
Pkd2l2	Rat	trimellitic anhydride	increases expression	ISO	RGD:1321075	6480464	trimellitic anhydride results in increased expression of PKD2L2 mRNA	CTD	PMID:19042947
Pkd2l2	Rat	triphenyl phosphate	affects expression	ISO	RGD:1321074	6480464	triphenyl phosphate affects the expression of PKD2L2 mRNA	CTD	PMID:37042841
Pkd2l2	Rat	valproic acid	increases methylation	ISO	RGD:1321074	6480464	Valproic Acid results in increased methylation of PKD2L2 gene	CTD	PMID:29154799

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Pkd2l2	Rat	calcium ion transmembrane transport	involved_in	IEA	GO:0005262	1600115	GO_REF:0000108	GOC	GO_REF:0000108
Pkd2l2	Rat	detection of mechanical stimulus	involved_in	IBA	FB:FBgn0036874\|MGI:1099818\|PANTHER:PTN000093539\|UniProtKB:E7FKV8\|UniProtKB:H2LRU7	1600115	GO_REF:0000033	GO_Central	GO_REF:0000033

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Pkd2l2	Rat	membrane	located_in	IEA	UniProtKB-KW:KW-0472	1600115	GO_REF:0000043	UniProt	GO_REF:0000043
Pkd2l2	Rat	membrane	located_in	IEA	InterPro:IPR003915	1600115	GO_REF:0000002	InterPro	GO_REF:0000002
Pkd2l2	Rat	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	1600115	GO_REF:0000044	UniProt	GO_REF:0000044
Pkd2l2	Rat	membrane	is_active_in	IBA	MGI:1099818\|MGI:1338786\|MGI:1352448\|MGI:2664670\|PANTHER:PTN000093539\|UniProtKB:Q13563\|UniProtKB:Q7Z443\|UniProtKB:Q8TDX9\|UniProtKB:Q9P0L9\|WB:WBGene00004035\|ZFIN:ZDB-GENE-040827-4	1600115	GO_REF:0000033	GO_Central	GO_REF:0000033

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Pkd2l2	Rat	calcium channel activity	enables	IBA	FB:FBgn0036874\|MGI:1099818\|MGI:1352448\|PANTHER:PTN000093539\|UniProtKB:Q13563\|WB:WBGene00004035	1600115	GO_REF:0000033	GO_Central	GO_REF:0000033
Pkd2l2	Rat	calcium ion binding	enables	IEA	InterPro:IPR003915	1600115	GO_REF:0000002	InterPro	GO_REF:0000002

#	Reference Title	Reference Citation
1.	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.	Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2.	Rat ISS GO annotations from GOA human gene data--August 2006	GOA data from the GO Consortium
3.	GOA pipeline	RGD automated data pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Pkd2l2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	26,281,719 - 26,316,583 (+)	NCBI		GRCr8
mRatBN7.2	18	26,007,789 - 26,042,428 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	26,007,797 - 26,042,428 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	26,135,200 - 26,169,822 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	26,898,234 - 26,933,379 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	26,233,139 - 26,268,285 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	27,190,661 - 27,225,488 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	27,190,974 - 27,225,488 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	26,904,093 - 26,938,848 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	26,876,459 - 26,911,433 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	26,884,533 - 26,934,194 (+)	NCBI
Celera	18	25,748,845 - 25,782,225 (+)	NCBI		Celera
Cytogenetic Map	18	p12	NCBI

PKD2L2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	137,889,457 - 137,942,747 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	137,887,968 - 137,942,747 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	137,225,146 - 137,278,436 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	137,253,024 - 137,304,055 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	137,253,056 - 137,304,055	NCBI
Celera	5	133,347,422 - 133,398,422 (+)	NCBI		Celera
Cytogenetic Map	5	q31.2	NCBI
HuRef	5	132,416,943 - 132,467,932 (+)	NCBI		HuRef
CHM1_1	5	136,657,755 - 136,708,732 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	138,415,893 - 138,469,143 (+)	NCBI		T2T-CHM13v2.0

Pkd2l2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	34,541,553 - 34,575,842 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	34,541,542 - 34,577,169 (+)	Ensembl		GRCm39 Ensembl
GRCm38	18	34,408,501 - 34,442,798 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	34,408,489 - 34,444,116 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	34,569,077 - 34,602,443 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	34,534,224 - 34,567,599 (+)	NCBI		MGSCv36	mm8
Celera	18	34,865,542 - 34,898,850 (+)	NCBI		Celera
Cytogenetic Map	18	B1	NCBI
cM Map	18	18.62	NCBI

Pkd2l2
(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_004955418	2,439,773 - 2,488,916 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955418	2,443,557 - 2,488,860 (-)	NCBI	ChiLan1.0	ChiLan1.0

PKD2L2
(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	4	133,171,473 - 133,225,197 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	131,311,032 - 131,364,755 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	133,276,223 - 133,329,712 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	139,413,548 - 139,466,056 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	139,416,606 - 139,459,732 (+)	Ensembl	panpan1.1		panPan2

PKD2L2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	25,594,327 - 25,628,262 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	25,594,394 - 25,628,509 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	24,358,304 - 24,392,241 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	26,444,314 - 26,478,229 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	26,444,376 - 26,476,209 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	25,151,973 - 25,185,898 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	24,975,686 - 25,009,595 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	25,638,396 - 25,672,574 (+)	NCBI		UU_Cfam_GSD_1.0

Pkd2l2
(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_024407213	154,462,731 - 154,495,840 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936531	7,115,718 - 7,148,359 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936531	7,115,718 - 7,152,010 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PKD2L2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	139,920,583 - 139,956,432 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	139,920,552 - 139,956,509 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	145,643,547 - 145,683,961 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PKD2L2
(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	23	40,569,225 - 40,611,967 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	40,569,281 - 40,611,884 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	37,279,173 - 37,320,400 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pkd2l2
(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_004624743	30,743,052 - 30,771,305 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624743	30,743,052 - 30,770,985 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in Pkd2l2
246 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1	copy number loss	See cases [RCV000052530]	Chr10:62229688..74468143 [GRCh38] Chr10:63989447..76227901 [GRCh37] Chr10:63659453..75897907 [NCBI36] Chr10:10q21.2-22.2	pathogenic
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	copy number loss	See cases [RCV000052531]	Chr10:72720628..75612374 [GRCh38] Chr10:74480386..77372132 [GRCh37] Chr10:74150392..77042138 [NCBI36] Chr10:10q22.1-22.2	pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	copy number loss	See cases [RCV000052511]	Chr10:58436466..74415216 [GRCh38] Chr10:60196226..76174974 [GRCh37] Chr10:59866232..75844980 [NCBI36] Chr10:10q21.1-22.2	pathogenic
NM_004922.3(SEC24C):c.1030C>T (p.Pro344Ser)	single nucleotide variant	Malignant melanoma [RCV000062074]	Chr10:73763532 [GRCh38] Chr10:75523290 [GRCh37] Chr10:75193296 [NCBI36] Chr10:10q22.2	not provided
NM_004922.3(SEC24C):c.1143C>T (p.Ile381=)	single nucleotide variant	Malignant melanoma [RCV000062075]	Chr10:73763899 [GRCh38] Chr10:75523657 [GRCh37] Chr10:75193663 [NCBI36] Chr10:10q22.2	not provided
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	copy number gain	See cases [RCV000135438]	Chr10:67196567..79422057 [GRCh38] Chr10:68956325..81181813 [GRCh37] Chr10:68626331..80851819 [NCBI36] Chr10:10q21.3-22.3	pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	copy number loss	See cases [RCV000136658]	Chr10:63402579..75296099 [GRCh38] Chr10:65162339..77055857 [GRCh37] Chr10:64832345..76725863 [NCBI36] Chr10:10q21.3-22.2	pathogenic\|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	copy number gain	See cases [RCV000138007]	Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2	pathogenic
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 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 10q22.2(chr10:75179409-76009153)x3	copy number gain	See cases [RCV000511191]	Chr10:75179409..76009153 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.463T>C (p.Ser155Pro)	single nucleotide variant	not specified [RCV004291960]	Chr10:73759776 [GRCh38] Chr10:75519534 [GRCh37] Chr10:10q22.2	likely benign
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 10q21.3-23.32(chr10:69040366-93194993)x3	copy number gain	not provided [RCV000683289]	Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32	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
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
NM_198597.3(SEC24C):c.2610G>A (p.Thr870=)	single nucleotide variant	not provided [RCV001532606]	Chr10:73769661 [GRCh38] Chr10:75529419 [GRCh37] Chr10:10q22.2	likely benign
NM_198597.3(SEC24C):c.2874C>T (p.Pro958=)	single nucleotide variant	not provided [RCV000927557]	Chr10:73770291 [GRCh38] Chr10:75530049 [GRCh37] Chr10:10q22.2	likely benign
NM_198597.3(SEC24C):c.1800-7T>C	single nucleotide variant	not provided [RCV000894019]	Chr10:73766753 [GRCh38] Chr10:75526511 [GRCh37] Chr10:10q22.2	benign
NM_198597.3(SEC24C):c.1698C>T (p.Ala566=)	single nucleotide variant	not provided [RCV000953631]	Chr10:73766440 [GRCh38] Chr10:75526198 [GRCh37] Chr10:10q22.2	benign
NM_198597.3(SEC24C):c.850+10T>G	single nucleotide variant	not provided [RCV000963662]	Chr10:73760396 [GRCh38] Chr10:75520154 [GRCh37] Chr10:10q22.2	benign
NM_198597.3(SEC24C):c.2988C>T (p.Ser996=)	single nucleotide variant	not provided [RCV000959878]	Chr10:73770405 [GRCh38] Chr10:75530163 [GRCh37] Chr10:10q22.2	likely benign
GRCh37/hg19 10q22.2(chr10:75251395-75763287)x1	copy number loss	not provided [RCV000849346]	Chr10:75251395..75763287 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2201G>A (p.Arg734Gln)	single nucleotide variant	not specified [RCV004304069]	Chr10:73768829 [GRCh38] Chr10:75528587 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.3145-4G>A	single nucleotide variant	not provided [RCV000888299]	Chr10:73770951 [GRCh38] Chr10:75530709 [GRCh37] Chr10:10q22.2	benign
NM_198597.3(SEC24C):c.771C>G (p.Gly257=)	single nucleotide variant	not provided [RCV000951110]	Chr10:73760307 [GRCh38] Chr10:75520065 [GRCh37] Chr10:10q22.2	benign
NM_198597.3(SEC24C):c.763C>G (p.Pro255Ala)	single nucleotide variant	not provided [RCV000891462]	Chr10:73760299 [GRCh38] Chr10:75520057 [GRCh37] Chr10:10q22.2	benign
NM_198597.3(SEC24C):c.1500C>A (p.Ser500Arg)	single nucleotide variant	Microcephaly [RCV001252937]	Chr10:73766103 [GRCh38] Chr10:75525861 [GRCh37] Chr10:10q22.2	uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	copy number loss	not specified [RCV002052875]	Chr10:68735254..78885714 [GRCh37] Chr10:10q21.3-22.3	pathogenic
NM_198597.3(SEC24C):c.542C>G (p.Ser181Cys)	single nucleotide variant	not specified [RCV004215388]	Chr10:73760078 [GRCh38] Chr10:75519836 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1529T>C (p.Val510Ala)	single nucleotide variant	not specified [RCV004098067]	Chr10:73766132 [GRCh38] Chr10:75525890 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.3168C>G (p.Asp1056Glu)	single nucleotide variant	not specified [RCV004141960]	Chr10:73770978 [GRCh38] Chr10:75530736 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.526T>A (p.Ser176Thr)	single nucleotide variant	not specified [RCV004189770]	Chr10:73760062 [GRCh38] Chr10:75519820 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2379C>A (p.Phe793Leu)	single nucleotide variant	not specified [RCV004140578]	Chr10:73769107 [GRCh38] Chr10:75528865 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2398A>G (p.Asn800Asp)	single nucleotide variant	not specified [RCV004120380]	Chr10:73769126 [GRCh38] Chr10:75528884 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2602C>A (p.Arg868Ser)	single nucleotide variant	not specified [RCV004126645]	Chr10:73769653 [GRCh38] Chr10:75529411 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2219G>A (p.Arg740His)	single nucleotide variant	not specified [RCV004227705]	Chr10:73768847 [GRCh38] Chr10:75528605 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.872G>T (p.Gly291Val)	single nucleotide variant	not specified [RCV004111409]	Chr10:73760734 [GRCh38] Chr10:75520492 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.284C>G (p.Pro95Arg)	single nucleotide variant	not specified [RCV004132246]	Chr10:73751219 [GRCh38] Chr10:75510977 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2257A>G (p.Met753Val)	single nucleotide variant	not specified [RCV004160707]	Chr10:73768885 [GRCh38] Chr10:75528643 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.317G>A (p.Gly106Glu)	single nucleotide variant	not specified [RCV004233985]	Chr10:73759630 [GRCh38] Chr10:75519388 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1327A>G (p.Arg443Gly)	single nucleotide variant	not specified [RCV004210521]	Chr10:73765550 [GRCh38] Chr10:75525308 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1655A>G (p.Tyr552Cys)	single nucleotide variant	not specified [RCV004121619]	Chr10:73766397 [GRCh38] Chr10:75526155 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.3220G>T (p.Gly1074Trp)	single nucleotide variant	not specified [RCV004162259]	Chr10:73771030 [GRCh38] Chr10:75530788 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1637G>A (p.Arg546His)	single nucleotide variant	not specified [RCV004082770]	Chr10:73766379 [GRCh38] Chr10:75526137 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1486A>G (p.Asn496Asp)	single nucleotide variant	not specified [RCV004213717]	Chr10:73766089 [GRCh38] Chr10:75525847 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.439G>A (p.Gly147Ser)	single nucleotide variant	not specified [RCV004223229]	Chr10:73759752 [GRCh38] Chr10:75519510 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1330C>T (p.Arg444Cys)	single nucleotide variant	not specified [RCV004250317]	Chr10:73765553 [GRCh38] Chr10:75525311 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.941A>C (p.Gln314Pro)	single nucleotide variant	not specified [RCV004253039]	Chr10:73760803 [GRCh38] Chr10:75520561 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2494T>G (p.Cys832Gly)	single nucleotide variant	not specified [RCV004297337]	Chr10:73769416 [GRCh38] Chr10:75529174 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.3154G>T (p.Val1052Leu)	single nucleotide variant	not specified [RCV004257344]	Chr10:73770964 [GRCh38] Chr10:75530722 [GRCh37] Chr10:10q22.2	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
NM_198597.3(SEC24C):c.2494T>C (p.Cys832Arg)	single nucleotide variant	not specified [RCV004328748]	Chr10:73769416 [GRCh38] Chr10:75529174 [GRCh37] Chr10:10q22.2	uncertain significance
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
NM_198597.3(SEC24C):c.2587C>T (p.Pro863Ser)	single nucleotide variant	not specified [RCV004337652]	Chr10:73769638 [GRCh38] Chr10:75529396 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1960A>G (p.Lys654Glu)	single nucleotide variant	not specified [RCV004348432]	Chr10:73767120 [GRCh38] Chr10:75526878 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.3026C>G (p.Ser1009Cys)	single nucleotide variant	not specified [RCV004364994]	Chr10:73770443 [GRCh38] Chr10:75530201 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.40G>C (p.Gly14Arg)	single nucleotide variant	not specified [RCV004360650]	Chr10:73746872 [GRCh38] Chr10:75506630 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.430C>G (p.Gln144Glu)	single nucleotide variant	not specified [RCV004362357]	Chr10:73759743 [GRCh38] Chr10:75519501 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2393G>A (p.Arg798Gln)	single nucleotide variant	not specified [RCV004365406]	Chr10:73769121 [GRCh38] Chr10:75528879 [GRCh37] Chr10:10q22.2	uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	copy number gain	not provided [RCV003484798]	Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2	pathogenic
NM_198597.3(SEC24C):c.2392C>T (p.Arg798Trp)	single nucleotide variant	not specified [RCV004447668]	Chr10:73769120 [GRCh38] Chr10:75528878 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2602C>T (p.Arg868Cys)	single nucleotide variant	not specified [RCV004447669]	Chr10:73769653 [GRCh38] Chr10:75529411 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1616G>A (p.Gly539Glu)	single nucleotide variant	not specified [RCV004447664]	Chr10:73766358 [GRCh38] Chr10:75526116 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.491C>T (p.Thr164Ile)	single nucleotide variant	not specified [RCV004447679]	Chr10:73760027 [GRCh38] Chr10:75519785 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.611G>A (p.Arg204Gln)	single nucleotide variant	not specified [RCV004447680]	Chr10:73760147 [GRCh38] Chr10:75519905 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.131A>G (p.Tyr44Cys)	single nucleotide variant	not specified [RCV004447660]	Chr10:73746963 [GRCh38] Chr10:75506721 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1469T>C (p.Val490Ala)	single nucleotide variant	not specified [RCV004447662]	Chr10:73765902 [GRCh38] Chr10:75525660 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1563G>C (p.Arg521Ser)	single nucleotide variant	not specified [RCV004447663]	Chr10:73766166 [GRCh38] Chr10:75525924 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1771G>A (p.Val591Ile)	single nucleotide variant	not specified [RCV004447666]	Chr10:73766513 [GRCh38] Chr10:75526271 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2191G>A (p.Asp731Asn)	single nucleotide variant	not specified [RCV004447667]	Chr10:73768819 [GRCh38] Chr10:75528577 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2614A>T (p.Ile872Phe)	single nucleotide variant	not specified [RCV004447670]	Chr10:73769665 [GRCh38] Chr10:75529423 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2836T>G (p.Phe946Val)	single nucleotide variant	not specified [RCV004447671]	Chr10:73769989 [GRCh38] Chr10:75529747 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.292A>G (p.Thr98Ala)	single nucleotide variant	not specified [RCV004447673]	Chr10:73751227 [GRCh38] Chr10:75510985 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2930A>T (p.Asn977Ile)	single nucleotide variant	not specified [RCV004447674]	Chr10:73770347 [GRCh38] Chr10:75530105 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.3068T>G (p.Val1023Gly)	single nucleotide variant	not specified [RCV004447675]	Chr10:73770722 [GRCh38] Chr10:75530480 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.3196C>G (p.Leu1066Val)	single nucleotide variant	not specified [RCV004447676]	Chr10:73771006 [GRCh38] Chr10:75530764 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.422C>A (p.Ser141Tyr)	single nucleotide variant	not specified [RCV004447678]	Chr10:73759735 [GRCh38] Chr10:75519493 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1321G>A (p.Gly441Arg)	single nucleotide variant	not specified [RCV004447661]	Chr10:73765544 [GRCh38] Chr10:75525302 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2769C>G (p.Val923=)	single nucleotide variant	not provided [RCV004585617]	Chr10:73769922 [GRCh38] Chr10:75529680 [GRCh37] Chr10:10q22.2	likely benign
NM_198597.3(SEC24C):c.1024A>G (p.Thr342Ala)	single nucleotide variant	not specified [RCV004667030]	Chr10:73763526 [GRCh38] Chr10:75523284 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.128C>T (p.Ala43Val)	single nucleotide variant	not specified [RCV004663651]	Chr10:73746960 [GRCh38] Chr10:75506718 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2126T>A (p.Leu709His)	single nucleotide variant	not specified [RCV004663652]	Chr10:73767952 [GRCh38] Chr10:75527710 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2602C>G (p.Arg868Gly)	single nucleotide variant	not specified [RCV004663653]	Chr10:73769653 [GRCh38] Chr10:75529411 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.986C>T (p.Pro329Leu)	single nucleotide variant	not specified [RCV004663656]	Chr10:73760848 [GRCh38] Chr10:75520606 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.184G>A (p.Ala62Thr)	single nucleotide variant	not specified [RCV004663649]	Chr10:73751119 [GRCh38] Chr10:75510877 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2994A>C (p.Gln998His)	single nucleotide variant	not specified [RCV004663650]	Chr10:73770411 [GRCh38] Chr10:75530169 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2385T>G (p.His795Gln)	single nucleotide variant	not specified [RCV004663655]	Chr10:73769113 [GRCh38] Chr10:75528871 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2371G>T (p.Val791Leu)	single nucleotide variant	not specified [RCV004663648]	Chr10:73769099 [GRCh38] Chr10:75528857 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2281A>G (p.Ile761Val)	single nucleotide variant	not specified [RCV004663654]	Chr10:73769009 [GRCh38] Chr10:75528767 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2930A>G (p.Asn977Ser)	single nucleotide variant	not specified [RCV004663658]	Chr10:73770347 [GRCh38] Chr10:75530105 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.164C>T (p.Pro55Leu)	single nucleotide variant	not specified [RCV004861572]	Chr10:73746996 [GRCh38] Chr10:75506754 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.664C>T (p.Arg222Trp)	single nucleotide variant	not specified [RCV004861578]	Chr10:73760200 [GRCh38] Chr10:75519958 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2447G>C (p.Cys816Ser)	single nucleotide variant	not specified [RCV004861580]	Chr10:73769369 [GRCh38] Chr10:75529127 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.868C>T (p.Arg290Trp)	single nucleotide variant	not specified [RCV004861575]	Chr10:73760730 [GRCh38] Chr10:75520488 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2440A>T (p.Thr814Ser)	single nucleotide variant	not specified [RCV004861576]	Chr10:73769362 [GRCh38] Chr10:75529120 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1928A>G (p.His643Arg)	single nucleotide variant	not specified [RCV004861577]	Chr10:73767088 [GRCh38] Chr10:75526846 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.623C>T (p.Ser208Leu)	single nucleotide variant	not specified [RCV004861582]	Chr10:73760159 [GRCh38] Chr10:75519917 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.370C>T (p.Leu124Phe)	single nucleotide variant	not specified [RCV004861583]	Chr10:73759683 [GRCh38] Chr10:75519441 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.293C>G (p.Thr98Ser)	single nucleotide variant	not specified [RCV004861579]	Chr10:73751228 [GRCh38] Chr10:75510986 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.748C>A (p.Pro250Thr)	single nucleotide variant	not specified [RCV004861574]	Chr10:73760284 [GRCh38] Chr10:75520042 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.304C>G (p.Gln102Glu)	single nucleotide variant	not specified [RCV004861584]	Chr10:73751239 [GRCh38] Chr10:75510997 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.1550C>T (p.Thr517Ile)	single nucleotide variant	not specified [RCV004861585]	Chr10:73766153 [GRCh38] Chr10:75525911 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.859G>A (p.Gly287Arg)	single nucleotide variant	not specified [RCV004861573]	Chr10:73760721 [GRCh38] Chr10:75520479 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.971A>G (p.Asp324Gly)	single nucleotide variant	not specified [RCV004861581]	Chr10:73760833 [GRCh38] Chr10:75520591 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.2410G>A (p.Gly804Arg)	single nucleotide variant	not specified [RCV004861586]	Chr10:73769138 [GRCh38] Chr10:75528896 [GRCh37] Chr10:10q22.2	uncertain significance
NM_198597.3(SEC24C):c.38T>C (p.Phe13Ser)	single nucleotide variant	not specified [RCV004861587]	Chr10:73746870 [GRCh38] Chr10:75506628 [GRCh37] Chr10:10q22.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	65
Count of miRNA genes:	49
Interacting mature miRNAs:	61
Transcripts:	ENSRNOT00000037690
Prediction methods:	Miranda, 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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2301410	Bp317	Blood pressure QTL 317		0.004	arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	18	11944273	26548295	Rat
1331733	Bp233	Blood pressure QTL 233	3.97196		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	18	24796977	79788953	Rat
1358358	Sradr6	Stress Responsive Adrenal Weight QTL 6	2.49		adrenal gland mass (VT:0010420)	both adrenal glands wet weight (CMO:0000164)	18	11944299	59330563	Rat
1331735	Rf44	Renal function QTL 44	2.981		urine total protein amount (VT:0000032)	urine total protein excretion rate (CMO:0000756)	18	18234564	31359530	Rat
61382	Bp46	Blood pressure QTL 46	18.8		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	18	11941791	31393320	Rat
1331741	Bp232	Blood pressure QTL 232	3.59112		arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	18	21372893	83213037	Rat
61388	Bp2	Blood pressure QTL 2	3.23		arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	18	1	35374722	Rat
6903359	Bp355	Blood pressure QTL 355	3.6		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	18	11944544	59796478	Rat
2313082	Bss85	Bone structure and strength QTL 85	0.8	0.0001	long bone metaphysis morphology trait (VT:0000133)	tibia midshaft total cross-sectional area (CMO:0001715)	18	14951337	59951337	Rat
1641923	Colcr8	Colorectal carcinoma resistance QTL 8	3.1	0.0014	intestine integrity trait (VT:0010554)	poorly differentiated malignant colorectal tumor number (CMO:0002076)	18	22066242	52293055	Rat
2312568	Glom21	Glomerulus QTL 21	2	0.005	kidney glomerulus morphology trait (VT:0005325)	index of glomerular damage (CMO:0001135)	18	5185858	40503530	Rat
1331766	Bp236	Blood pressure QTL 236	3.022		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	18	11944299	31359530	Rat
1358193	Emca2	Estrogen-induced mammary cancer QTL 2	1.6		mammary gland integrity trait (VT:0010552)	post-insult time to mammary tumor formation (CMO:0000345)	18	18007599	63571040	Rat
631264	Scl22	Serum cholesterol level QTL 22	6.2		blood cholesterol amount (VT:0000180)	serum total cholesterol level (CMO:0000363)	18	11941791	31393320	Rat
1331775	Bp235	Blood pressure QTL 235	3.201		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	18	18234564	31359530	Rat
12904680	Bw189	Body weight QTL 189		0.019	body mass (VT:0001259)	body weight (CMO:0000012)	18	11944273	26548295	Rat
2325839	Bp348	Blood pressure QTL 348		0.001	arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	18	25570985	70570985	Rat
1600373	Mamtr6	Mammary tumor resistance QTL 6			mammary gland integrity trait (VT:0010552)	mammary tumor number (CMO:0000343)	18	19278901	83218561	Rat
2293708	Bss46	Bone structure and strength QTL 46	8.8	0.0001	lumbar vertebra morphology trait (VT:0010494)	lumbar vertebra cortical cross-sectional area (CMO:0001690)	18	11791518	63636873	Rat
12904693	Am20	Aortic mass QTL 20		0.001	aorta mass (VT:0002845)	aorta weight to aorta length to body weight ratio (CMO:0002722)	18	11944273	26548295	Rat
9589153	Insul31	Insulin level QTL 31	7.15	0.05	blood insulin amount (VT:0001560)	plasma insulin level (CMO:0000342)	18	1	42547119	Rat
1578667	Bss21	Bone structure and strength QTL 21	3.5		femur morphology trait (VT:0000559)	femoral neck cortical cross-sectional area (CMO:0001702)	18	11791518	83218561	Rat
12904695	Kidm73	Kidney mass QTL 73		0.001	kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	18	11944273	26548295	Rat
2312598	Bp340	Blood pressure QTL 340		0.05	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	18	1	30558703	Rat
12904689	Cm128	Cardiac mass QTL 128		0.001	heart mass (VT:0007028)	heart wet weight to body weight ratio (CMO:0002408)	18	11944273	26548295	Rat
12904690	Cm129	Cardiac mass QTL 129		0.001	heart left ventricle mass (VT:0007031)	heart left ventricle weight to body weight ratio (CMO:0000530)	18	11944273	26548295	Rat
2300180	Bmd67	Bone mineral density QTL 67	4.8	0.0001	femur mineral mass (VT:0010011)	bone mineral density (CMO:0001226)	18	1	34291613	Rat
12904691	Cm130	Cardiac mass QTL 130		0.001	heart right ventricle mass (VT:0007033)	heart right ventricle weight to body weight ratio (CMO:0000914)	18	11944273	26548295	Rat
2299160	Iddm35	Insulin dependent diabetes mellitus QTL 35	2.79		blood glucose amount (VT:0000188)	age at onset/diagnosis of type 1 diabetes mellitus (CMO:0001140)	18	4207941	60377792	Rat
1578661	Bss20	Bone structure and strength QTL 20	3.7		femur morphology trait (VT:0000559)	femoral neck cross-sectional area (CMO:0001697)	18	11791518	83218561	Rat
1331753	Bp231	Blood pressure QTL 231	3.643		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	18	11944299	52293055	Rat
2293661	Bss50	Bone structure and strength QTL 50	4.64	0.0003	lumbar vertebra size trait (VT:0010518)	lumbar vertebra trabecular cross-sectional area (CMO:0001692)	18	1	34291613	Rat
61375	Bp41	Blood pressure QTL 41	2.4		blood pressure trait (VT:0000183)	systolic blood pressure (CMO:0000004)	18	11944299	41122201	Rat

RH133590

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	18	26,041,040 - 26,041,246 (+)	MAPPER	mRatBN7.2
Rnor_6.0	18	27,224,101 - 27,224,306	NCBI	Rnor6.0
Rnor_5.0	18	26,937,461 - 26,937,666	UniSTS	Rnor5.0
RGSC_v3.4	18	26,910,046 - 26,910,251	UniSTS	RGSC3.4
Celera	18	25,780,838 - 25,781,043	UniSTS
RH 3.4 Map	18	364.1	UniSTS
Cytogenetic Map	18	p12	UniSTS

AI101820

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	18	26,022,809 - 26,023,000 (+)	MAPPER	mRatBN7.2
Rnor_6.0	18	27,205,954 - 27,206,144	NCBI	Rnor6.0
Rnor_5.0	18	26,919,407 - 26,919,597	UniSTS	Rnor5.0
RGSC_v3.4	18	26,891,129 - 26,891,319	UniSTS	RGSC3.4
Celera	18	25,762,348 - 25,762,538	UniSTS
RH 3.4 Map	18	364.5	UniSTS
Cytogenetic Map	18	p12	UniSTS

AI101820

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	18	26,022,845 - 26,023,000 (+)	MAPPER	mRatBN7.2
Rnor_6.0	18	27,205,990 - 27,206,144	NCBI	Rnor6.0
Rnor_5.0	18	26,919,443 - 26,919,597	UniSTS	Rnor5.0
RGSC_v3.4	18	26,891,165 - 26,891,319	UniSTS	RGSC3.4
Celera	18	25,762,384 - 25,762,538	UniSTS
RH 3.4 Map	18	364.5	UniSTS
Cytogenetic Map	18	p12	UniSTS

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

alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	nervous system	renal system	reproductive system	respiratory system
9	9	21	60	64	63	32	25	32	6	161	67	40	45	60	31


RefSeq Transcripts	NM_001106156	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008772026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008772027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_063277218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_063277219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_063277220	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	CH473974	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAXUCZ010000018	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSRNOT00000037690 ⟹ ENSRNOP00000030483

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	18	26,007,797 - 26,042,428 (+)	Ensembl
Rnor_6.0 Ensembl	18	27,190,974 - 27,225,488 (+)	Ensembl

RefSeq Acc Id:

NM_001106156 ⟹ NP_001099626

RefSeq Status:

PROVISIONAL

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	18	26,281,941 - 26,316,583 (+)	NCBI
mRatBN7.2	18	26,007,797 - 26,042,428 (+)	NCBI
Rnor_6.0	18	27,190,974 - 27,225,488 (+)	NCBI
Rnor_5.0	18	26,904,093 - 26,938,848 (+)	NCBI
RGSC_v3.4	18	26,876,459 - 26,911,433 (+)	RGD
Celera	18	25,748,845 - 25,782,225 (+)	RGD

Sequence:

show sequence

GGTGGAACCGGCAGAGCCGCACCCGCCGTGTGGTCCTGTCGGTGATGTCCGAGGCGACTTGGTGGCACCGAGGAGGGACTTCAAAACATGACCTGCATTACCGAAGGGAAGCGGAGGTTAACACCACA
CTTGAAGAGTTGTTACTATACTTTATTTTTCTAATAAATCTATGCATATTGACTTTTGGGACGGTCAACCCACATATGTACTACTTAAACAAAGTCATGTCATCTCTGTTTGTGGACACTTCTCTACC
TGATGACGAAAGAAGCAGCTTTAGGTCCATTCGCAGCATAACTGAGTTCTGGAAGTTCATGGAAGGACCCCTCGTGGAAGGCTTGTACTGGGACTCGTGGTACGGAAACACACAGCTGGACAGCGTGA
AGAACAGCAGCCTCATCTACTACGAGAACATTCTCCTCGGCGTCCCCAGAGTGCGGCAGCTGCGAGTCCGAAACAGCACTTGCCAGGTCTACCCAGCTTTCCAGTCCCTAGCCAGCGACTGTTACAAC
AAATACACAGCAGAGAATGAGGACTTCTCTGATTTTGGCCTCAAACATGATCCAGAATGGAGGCACTCGGCTCCTTCCAGCACCGCCCCATGGCACTGGGGGTTTGTCGGCGTCTACCGAGATGGAGG
GTATATGGTCACTTTATCAAAATCAAAGTCTGAAACCAAAGCCAAACTCGCTGACCTGCGGCAGAACAACTGGATCGGCAGAGGGACCAGGGCTGTCTTCATTGATTTTTCATTGTACAATGCTAACG
TCAACCTGTTTTGTATCATCAGGCTGCTGGCGGAGTTCCCTGCGACAGGCGGGATCCTCACTTCCTGGCAATTCTACTCTGTGAAGCTCATCAGATACGTCTCCTACTACGACCACTTCATTGCCTCC
TGTGAAATTATATTTTGTATTTTCCTTTTGGTCTTCATAACACAAGAACTGAGAAAACTGAATGAGTTTAAGTCTGCCTATTTCAGAAGTGTCTGGAACTGGATAGAACTGCTGCTTTTGGTGCTCTG
TTTCCTTGCCGTGTCTTTCTACGCATACTGTAACGTACAGTGTTTTCTCTTACTTGGACAGCTGCTGAGGAGCACCGAAAGCTATCCGGACTTTTACTTCCTTGCATATTGGCACATTTACTATAACA
ACATAATTGCTATCACGATCTTCTTTGCATGGATAAAGATATTCAAATTCATAAGCTTCAACGAGACGATGTCTCAGCTGTCGTCCACGCTATCCCGCTGCATGAAGGACATCGTGGGCTTCGCCATC
ATGTTCTTCATCATCTTCTTCGCCTACGCCCAGTTGGCGTTTCTCGTTTTTGGGTCACAGGTTGATGACTTCTCCACCTTTCAAAATTCCATATTTGCACAATTTCGAATTGTCCTCGGGGACTTTAA
CTTTGCTGGCATCCAGCAGGCCAACTGGATCTTGGGGCCCATCTACTTCATCACCTTCATCTTCTTCGTATTCTTCGTGCTCCTGAACATGTTCTTGGCAATAATTAATGATACCTATTCTGAAGTGA
AGGCCGATTATTCGATAGGCAGAAGACCAGATTTTGAACTTGGTAGCATAATTAAGAAGAGTTGCTTCAATATTCTGGAGAAACTCAGACTCAGGAAAGCTCAAAATAATGAAGACAAGAAAATGAAA
ACCAGCGTAGACTTGGCACAAGCCAGAAAAGAAGGCTTTGATGAAAGTGAGATCCAAGAGGCAAGGCAGATGAAAAGGTGGAAGGAAAGGCTTGAGAAAAAGTATTATTCTACCGAAATTCAAGACGA
CTACCAGCCTGTCACTCAGCAAGAATTTCGAGAACTCTTCTTATATGCGGTGGAGCTTGAGAAGGAGCTACACTACCTGAGTTTAAAACTGAACCAAGTGATGAGAAAGCTACACTAACTCGCTGACG
AGTAAGTCGTTTTGTAAGAAAAAGGCAACTGAAGAATTTCATTCAGTGTGAAGATTTTCCTCTCAATTTTCTTCAGTAATAAAAAACAAAAAGTAAACAAAAAAGCCTTGTATTTCCAAAGTTCTTGA
AGTAAAAAGAATAAAATTCTTGTCCTTTGCTAATATATGTACCTGCATGTTTGCTAAGTGAGGAGGGATCTGCGGTAGGTAACGTGGCTAAGTGAGGAGAGGTCTGCGGTAGGTAACGGGGCACAGCC
TTTCCTTGCCCTACTGAGACCACAAACAAGGACAAAATGGAATTCTCTGAGTGGCTGACAAAGTGAACGCAAGGACGAGCCAAGCACACATGGTGGACCATCAGGGAACACAATCACTTTATGATGTC
AACTTTCAAGCAACATATTTTATATGGATTTTGAAGAGTCTTGTTTGCTGATAAGAACTTCAAGAAGTCTAAGCTTGGCTTTAATTCTTTTGTATTCCTTATATTCCTCAAGGACTGGAACACGATCC
TCCTTCTGGGCATTCCTGGGGAAGATAAAACTCTGTAAAAT

hide sequence

RefSeq Acc Id:

XM_008772027 ⟹ XP_008770249

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	18	26,281,721 - 26,315,650 (+)	NCBI
mRatBN7.2	18	26,007,789 - 26,039,061 (+)	NCBI
Rnor_6.0	18	27,190,661 - 27,222,800 (+)	NCBI

Sequence:

show sequence

GAGAGAGAGAGAGAGAGAGAGATATTCTTTCTATTAAATCAATTAGACAAAAGGGAGGGCTGAC
CGCGTCTTTTGGCCACTCATGTTAATAATGTAGGTGGTGACACTTATTTTCTTTTTTGTATCCAGAAAAGTGAGCTAGAAATAAACCTCCAGCCACACAACCCCCAGGAGTTGAAGCTCTAACCTGGG
GCGGTGCCGTGTCCGCACAGGCGCACTAGCCTTCAGCCCAGGAACCCGCGCACGCAGGGCGGGTGCAGATGCCGGGTTAGAGCACTGCGGCTCTACTGCGCAGGCGCGGGGTCAGGGCTTGGGTGGAA
CCGGCAGAGCCGCACCCGCCGTGTGGTCCTGTCGGTGATGTCCGAGGCGACTTGGTGGCACCGAGGAGGGACTTCAAAACATGACCTGCATTACCGAAGGGAAGCGGAGGTTAACACCACACTTGAAG
AGTTGTTACTATACTTTATTTTTCTAATAAATCTATGCATATTGACTTTTGGGACGGTCAACCCACATATGTACTACTTAAACAAAGTCATGTCATCTCTGTTTGTGGACACTTCTCTACCTGATGAC
GAAAGAAGCAGCTTTAGGTCCATTCGCAGCATAACTGAGTTCTGGAAGTTCATGGAAGGACCCCTCGTGGAAGGCTTGTACTGGGACTCGTGGTACGGAAACACACAGCTGGACAGCGTGAAGAACAG
CAGCCTCATCTACTACGAGAACATTCTCCTCGGCGTCCCCAGAGTGCGGCAGCTGCGAGTCCGAAACAGCACTTGCCAGGTCTACCCAGCTTTCCAGTCCCTAGCCAGCGACTGTTACAACAAATACA
CAGCAGAGAATGAGGACTTCTCTGATTTTGGCCTCAAACATGATCCAGAATGGAGGCACTCGGCTCCTTCCAGCACCGCCCCATGGCACTGGGGGTTTGTCGGCGTCTACCGAGATGGAGGGTATATG
GTCACTTTATCAAAATCAAAGTCTGAAACCAAAGCCAAACTCGCTGACCTGCGGCAGAACAACTGGATCGGCAGAGGGACCAGGGCTGTCTTCATTGATTTTTCATTGTACAATGCTAACGTCAACCT
GTTTTGTATCATCAGGCTGCTGGCGGAGTTCCCTGCGACAGGCGGGATCCTCACTTCCTGGCAATTCTACTCTGTGAAGCTCATCAGATACGTCTCCTACTACGACCACTTCATTGCCTCCTGTGAAA
TTATATTTTGTATTTTCCTTTTGGTCTTCATAACACAAGAACTGAGAAAACTGAATGAGTTTAAGTCTGCCTATTTCAGAAGTGTCTGGAACTGGATAGAACTGCTGCTTTTGGTGCTGCTGAGGAGC
ACCGAAAGCTATCCGGACTTTTACTTCCTTGCATATTGGCACATTTACTATAACAACATAATTGCTATCACGATCTTCTTTGCATGGATAAAGATATTCAAATTCATAAGCTTCAACGAGACGATGTC
TCAGCTGTCGTCCACGCTATCCCGCTGCATGAAGGACATCGTGGGCTTCGCCATCATGTTCTTCATCATCTTCTTCGCCTACGCCCAGTTGGCGTTTCTCGTTTTTGGGTCACAGGTTGATGACTTCT
CCACCTTTCAAAATTCCATATTTGCACAATTTCGAATTGTCCTCGGGGACTTTAACTTTGCTGGCATCCAGCAGGCCAACTGGATCTTGGGGCCCATCTACTTCATCACCTTCATCTTCTTCGTATTC
TTCGTGCTCCTGAACATGTTCTTGGCAATAATTAATGATACCTATTCTGAAGTGAAGGCCGATTATTCGATAGGCAGAAGACCAGATTTTGAACTTGGTAGCATAATTAAGAAGAGTTGCTTCAATAT
TCTGGAGAAACTCAGACTCAGGAAAGCTCAAAATAATGAAGACAAGAAAATGAAAACCAGCGTAGACTTGGCACAAGCCAGAAAAGAAGGCTTTGATGAAAGTGAGATCCAAGAGGCAAGGCAGATGA
AAAGGTGGAAGGAAAGGCTTGAGAAAAAGTATTATTCTACCGAAATTCAAGACGACTACCAGCCTGTCACTCAGCAAGAATTTCGAGAACTCTTCTTATATGCGGTGGAGCTTGAGAAGGAGCTACAC
TACCTGAGTTTAAAACTGAACCAAGTGATGAGAAAGCTACACTAACTCGCTGACGAGTAAGGTGAGGCATCGTGGGAGTCAGTGCCTAGGAATACTTGGGGGTGGGGCAGAGTATTGCTGTGTTGTCC
CCTAAACACACCATCCTCTCCGGCGTAGTCATTACTGAGTGCAAATGCTAGGCGCTGAGCCATGCCTGCGGCTGAGATGCATTTTAAAGGCACTGAAGCAGCTCTCACTTATAATAGGATGGGCTCCA
TGAGTCAAGTGCAGTTCACCAAGGGCTTCCTGTTATGAGCACATGGGCACACAGGATTTTTATCACAACTATTAAGTTCTAGGGGGGTAAAGGGGAAAGTACAAGTCAATGCTGCTCACTCGTGGGGG
CAGAGCTCTAATGGCTGGATGAGAGGCAGAGATGCTCTTTCCTAGGTACAGAGTACAAGAACTGTGTGGTGTTTCAACCATATCGTGCCCCAGGGTCTTGCTTGCGTGGGCCAGATGGAAGTCAAGTC
CTAAGATTCCAAGAAAGTATTATATATTGTATCAACATAAAATAATCTCCCCTCTTCAAAATCCAAAACTCCTAGAAAGAGTCAAATACAGAACAAACTCTGCAGCTAAAAACAGAAATCTAGAACAG
CATTCCAAGTCTCTTAAGAGTGGAGCAGACGGCAGCACATTGGCTCCGCTTCGACAGAGGGTGCTTTGAGAGCTCTCTTGTTGGAAAGTTGTGTATGACTGGTATTTTAGAGACTGAAGGGAAATGTT
ACTTTTCTAAGTTCTCTAAGACCTTCACCAAATAGCCAGACTCTGTCCTGTGGGCTGAGCACCACCACACTCAGTCTGCACATCAATAATGTGTGTGATGTTCAGGGTGTGTATTTAAAGCATGAATA
AGGCAAATATTGTAAAATAAAACCTTTTGCT

hide sequence

RefSeq Acc Id:

XM_063277218 ⟹ XP_063133288

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	18	26,281,720 - 26,315,650 (+)	NCBI

RefSeq Acc Id:

XM_063277219 ⟹ XP_063133289

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	18	26,281,721 - 26,315,650 (+)	NCBI

RefSeq Acc Id:

XM_063277220 ⟹ XP_063133290

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	18	26,281,719 - 26,315,650 (+)	NCBI


Protein RefSeqs	NP_001099626	(Get FASTA)	NCBI Sequence Viewer
	XP_008770249	(Get FASTA)	NCBI Sequence Viewer
	XP_063133288	(Get FASTA)	NCBI Sequence Viewer
	XP_063133289	(Get FASTA)	NCBI Sequence Viewer
	XP_063133290	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	EDL76225	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSRNOP00000030483
	ENSRNOP00000030483.3

RefSeq Acc Id:

NP_001099626 ⟸ NM_001106156

- UniProtKB:

D4A828 (UniProtKB/TrEMBL), A6J2U3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSEATWWHRGGTSKHDLHYRREAEVNTTLEELLLYFIFLINLCILTFGTVNPHMYYLNKVMSSLFVDTSLPDDERSSFRSIRSITEFWKFMEGPLVEGLYWDSWYGNTQLDSVKNSSLIYYENILLGV
PRVRQLRVRNSTCQVYPAFQSLASDCYNKYTAENEDFSDFGLKHDPEWRHSAPSSTAPWHWGFVGVYRDGGYMVTLSKSKSETKAKLADLRQNNWIGRGTRAVFIDFSLYNANVNLFCIIRLLAEFPA
TGGILTSWQFYSVKLIRYVSYYDHFIASCEIIFCIFLLVFITQELRKLNEFKSAYFRSVWNWIELLLLVLCFLAVSFYAYCNVQCFLLLGQLLRSTESYPDFYFLAYWHIYYNNIIAITIFFAWIKIF
KFISFNETMSQLSSTLSRCMKDIVGFAIMFFIIFFAYAQLAFLVFGSQVDDFSTFQNSIFAQFRIVLGDFNFAGIQQANWILGPIYFITFIFFVFFVLLNMFLAIINDTYSEVKADYSIGRRPDFELG
SIIKKSCFNILEKLRLRKAQNNEDKKMKTSVDLAQARKEGFDESEIQEARQMKRWKERLEKKYYSTEIQDDYQPVTQQEFRELFLYAVELEKELHYLSLKLNQVMRKLH

hide sequence

RefSeq Acc Id:

XP_008770249 ⟸ XM_008772027

- Peptide Label:

isoform X4

- Sequence:

show sequence

MSEATWWHRGGTSKHDLHYRREAEVNTTLEELLLYFIFLINLCILTFGTVNPHMYYLNKVMSSLFVDTSLPDDERSSFRSIRSITEFWKFMEGPLVEGLYWDSWYGNTQLDSVKNSSLIYYENILLGV
PRVRQLRVRNSTCQVYPAFQSLASDCYNKYTAENEDFSDFGLKHDPEWRHSAPSSTAPWHWGFVGVYRDGGYMVTLSKSKSETKAKLADLRQNNWIGRGTRAVFIDFSLYNANVNLFCIIRLLAEFPA
TGGILTSWQFYSVKLIRYVSYYDHFIASCEIIFCIFLLVFITQELRKLNEFKSAYFRSVWNWIELLLLVLLRSTESYPDFYFLAYWHIYYNNIIAITIFFAWIKIFKFISFNETMSQLSSTLSRCMKD
IVGFAIMFFIIFFAYAQLAFLVFGSQVDDFSTFQNSIFAQFRIVLGDFNFAGIQQANWILGPIYFITFIFFVFFVLLNMFLAIINDTYSEVKADYSIGRRPDFELGSIIKKSCFNILEKLRLRKAQNN
EDKKMKTSVDLAQARKEGFDESEIQEARQMKRWKERLEKKYYSTEIQDDYQPVTQQEFRELFLYAVELEKELHYLSLKLNQVMRKLH

hide sequence

Ensembl Acc Id:

ENSRNOP00000030483 ⟸ ENSRNOT00000037690

RefSeq Acc Id:	XP_063133290 ⟸ XM_063277220
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_063133288 ⟸ XM_063277218
- Peptide Label:	isoform X1

Protein Domains

Polycystin Polycystin cation channel PKD1/PKD2

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-D4A828-F1-model_v2	AlphaFold	D4A828	1-621	view protein structure

eQTL		View at Phenogen
WGCNA		View at Phenogen
Tissue/Strain Expression		View at Phenogen

RGD ID:

13700692

Promoter ID:

EPDNEW_R11216

Type:

single initiation site

Name:

Pkd2l2_1

Description:

polycystin 2 like 2, transient receptor potential cation channel

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Rat Assembly	Chr	Position (strand)	Source
Rnor_6.0	18	27,190,986 - 27,191,046	EPDNEW

Database	Acc Id	Source(s)
BioCyc Gene	G2FUF-7958	BioCyc
Ensembl Genes	ENSRNOG00000025489	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSRNOT00000037690	ENTREZGENE
	ENSRNOT00000037690.4	UniProtKB/TrEMBL
Gene3D-CATH	1.10.287.70	UniProtKB/TrEMBL
InterPro	PKD1_2_channel	UniProtKB/TrEMBL
	PKD_2	UniProtKB/TrEMBL
	Polycystin	UniProtKB/TrEMBL
	Polycystin_dom	UniProtKB/TrEMBL
KEGG Report	rno:291683	UniProtKB/TrEMBL
NCBI Gene	291683	ENTREZGENE
PANTHER	POLYCYSTIC KIDNEY DISEASE 2-LIKE 2 PROTEIN	UniProtKB/TrEMBL
	POLYCYSTIN FAMILY MEMBER	UniProtKB/TrEMBL
Pfam	PKD_channel	UniProtKB/TrEMBL
	Polycystin_dom	UniProtKB/TrEMBL
PhenoGen	Pkd2l2	PhenoGen
PRINTS	POLYCYSTIN2	UniProtKB/TrEMBL
RatGTEx	ENSRNOG00000025489	RatGTEx
UniProt	A6J2U3	ENTREZGENE, UniProtKB/TrEMBL
	D4A828	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-03	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	Pkd2l2	polycystic kidney disease 2-like 2	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2008-04-30	Pkd2l2	polycystic kidney disease 2-like 2	Pkd2l2_predicted	polycystic kidney disease 2-like 2 (predicted)	'predicted' is removed	2292626	APPROVED
2005-01-12	Pkd2l2_predicted	polycystic kidney disease 2-like 2 (predicted)			Symbol and Name status set to approved	70820	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar