PRKD2 (protein kinase D2) - Rat Genome Database

Name: PRKD2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: PRKD2 (protein kinase D2) Homo sapiens

Analyze

Symbol:

PRKD2

Name:

protein kinase D2

RGD ID:

1342931

HGNC Page

HGNC:17293

Description:

Enables protein kinase C binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in several processes, including positive regulation of endothelial cell migration; positive regulation of macromolecule biosynthetic process; and positive regulation of signal transduction. Located in cytosol and nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

HSPC187; nPKC-D2; PKD2; serine/threonine-protein kinase D2

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Prkd2 (protein kinase D2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Prkd2 (protein kinase D2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Prkd2 (protein kinase D2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PRKD2 (protein kinase D2)	NCBI	Ortholog
Canis lupus familiaris (dog):	PRKD2 (protein kinase D2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Prkd2 (protein kinase D2)	NCBI	Ortholog
Sus scrofa (pig):	PRKD2 (protein kinase D2)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PRKD2 (protein kinase D2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Prkd2 (protein kinase D2)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Prkd3 (protein kinase D3)	HGNC	OrthoMCL
Mus musculus (house mouse):	Prkd1 (protein kinase D1)	HGNC	OrthoMCL
Rattus norvegicus (Norway rat):	Ift46 (intraflagellar transport 46)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Prkd2 (protein kinase D2)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Prkd2 (protein kinase D2)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	prkd2 (protein kinase D2)	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Drosophila melanogaster (fruit fly):	PKD	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	dkf-2	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Note: PKD2 (GeneID: 5311) and PRKD2 (GeneID: 25865) share the PKD2 symbol/alias in common. PKD2 is a widely used alternative name for protein kinase D2 (PRKD2), which can be confused with the official symbol for PKD2/polycystin-2/polycystic kidney disease 2. [19 Jun 2018]

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	46,674,316 - 46,717,114 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	46,674,275 - 46,717,127 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	47,177,573 - 47,220,371 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	51,869,413 - 51,912,224 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	51,869,412 - 51,911,506	NCBI
Celera	19	43,981,103 - 44,023,914 (-)	NCBI		Celera
Cytogenetic Map	19	q13.32	NCBI
HuRef	19	43,602,696 - 43,645,312 (-)	NCBI		HuRef
CHM1_1	19	47,179,449 - 47,222,284 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	49,499,855 - 49,545,002 (-)	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

B-Cell Chronic Lymphocytic Leukemia (EXP)

genetic disease (IAGP)

long QT syndrome 1 (IAGP)

polycystic ovary syndrome (EXP)

Walker-Warburg syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

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

2,4-dinitrotoluene (ISO)

2-methylcholine (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

acrylamide (EXP)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP)

amitrole (ISO)

amphetamine (ISO)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

bafilomycin A1 (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

C60 fullerene (ISO)

caffeine (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

carboplatin (EXP)

chloroquine (EXP)

cisplatin (EXP)

clotrimazole (ISO)

coumarin (EXP)

cyclosporin A (EXP)

deoxynivalenol (ISO)

diazinon (EXP)

dicrotophos (EXP)

dioxygen (ISO)

diuron (EXP)

doxorubicin (ISO)

elemental selenium (EXP)

erastin (EXP)

ethyl methanesulfonate (EXP)

fenthion (ISO)

fipronil (ISO)

FR900359 (EXP)

lipopolysaccharide (EXP)

malonaldehyde (EXP)

methamphetamine (ISO)

methidathion (ISO)

methimazole (ISO)

methoxychlor (ISO)

methyl methanesulfonate (EXP)

motexafin gadolinium (EXP)

N-methyl-4-phenylpyridinium (EXP)

ozone (EXP,ISO)

pentachlorophenol (ISO)

perfluorooctane-1-sulfonic acid (EXP)

perfluorooctanoic acid (EXP)

phorbol 13-acetate 12-myristate (EXP)

selenium atom (EXP)

sirolimus (EXP)

sodium fluoride (ISO)

sulfadimethoxine (ISO)

thimerosal (EXP)

titanium dioxide (ISO)

troglitazone (ISO)

tungsten (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

vorinostat (EXP)

zinc acetate (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adaptive immune response (IEA)

angiogenesis (IEA)

cell adhesion (IEA)

cellular response to vascular endothelial growth factor stimulus (IGI,IMP)

endothelial tube morphogenesis (TAS)

immune system process (IEA)

intracellular signal transduction (IBA,IMP)

phospholipase C-activating G protein-coupled receptor signaling pathway (IBA)

positive regulation of angiogenesis (IGI,IMP)

positive regulation of blood vessel endothelial cell migration (IGI,IMP)

positive regulation of cell adhesion (IMP)

positive regulation of DNA biosynthetic process (IEA,ISS)

positive regulation of endothelial cell chemotaxis (IGI,IMP)

positive regulation of endothelial cell migration (IMP)

positive regulation of endothelial cell proliferation (IGI,IMP)

positive regulation of ERK1 and ERK2 cascade (IEA,ISS)

positive regulation of fibroblast growth factor receptor signaling pathway (IMP)

positive regulation of interleukin-2 production (IEA,ISS)

positive regulation of interleukin-8 production (IMP)

positive regulation of T cell receptor signaling pathway (IEA,ISS)

positive regulation of transcription by RNA polymerase II (IDA,IGI,IMP)

positive regulation of vascular endothelial growth factor receptor signaling pathway (IMP)

protein modification process (IEA)

regulation of T cell apoptotic process (IMP)

sphingolipid biosynthetic process (TAS)

T cell receptor signaling pathway (IDA)

vascular endothelial growth factor receptor signaling pathway (IGI,IMP)

Cellular Component

cytoplasm (IDA,IEA)

cytosol (IBA,IDA,TAS)

Golgi apparatus (IEA)

membrane (IEA)

nucleoplasm (IDA)

nucleus (IDA,IEA)

plasma membrane (IEA)

Molecular Function

ATP binding (IEA)

diacylglycerol-dependent serine/threonine kinase activity (IEA,TAS)

kinase activity (IEA)

metal ion binding (IEA)

nucleotide binding (IEA)

protein binding (IPI)

protein kinase activity (IDA,IEA)

protein kinase C binding (IPI)

protein serine kinase activity (IEA,IGI)

protein serine/threonine kinase activity (IBA,IDA,IEA,IMP,NAS)

transferase activity (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11042152	PMID:11062248	PMID:12058027	PMID:12477932	PMID:12646243	PMID:14702039	PMID:14743217	PMID:15231748	PMID:15604256	PMID:15623513	PMID:15975900	PMID:16083285
PMID:16344560	PMID:16899224	PMID:16928771	PMID:17077180	PMID:17081983	PMID:17121608	PMID:17192257	PMID:17570131	PMID:17951978	PMID:17962809	PMID:18059339	PMID:18262756
PMID:18440775	PMID:18758461	PMID:19001381	PMID:19192391	PMID:19430480	PMID:19520973	PMID:19581308	PMID:19615732	PMID:19913121	PMID:20332261	PMID:20497126	PMID:20553269
PMID:20628086	PMID:20731705	PMID:20732914	PMID:20855867	PMID:21081666	PMID:21173164	PMID:21488147	PMID:21736870	PMID:21865166	PMID:21873635	PMID:21900206	PMID:22020285
PMID:22217708	PMID:22228765	PMID:22734003	PMID:22939624	PMID:23251465	PMID:23393329	PMID:23515950	PMID:23562655	PMID:24336522	PMID:24463355	PMID:24840177	PMID:25218347
PMID:25802335	PMID:25874490	PMID:25921289	PMID:26186194	PMID:26241492	PMID:26253275	PMID:26426580	PMID:26496610	PMID:26673895	PMID:27662904	PMID:27684187	PMID:28428613
PMID:28514442	PMID:28675297	PMID:29259300	PMID:29955894	PMID:30018032	PMID:30196744	PMID:30652415	PMID:30718593	PMID:30841931	PMID:30843621	PMID:30948266	PMID:31091453
PMID:31332168	PMID:31753913	PMID:32509391	PMID:32707033	PMID:33519497	PMID:33567341	PMID:33949105	PMID:33961781	PMID:34315543	PMID:35256949	PMID:35271311	PMID:35563538
PMID:35748872	PMID:35914814	PMID:36017858	PMID:36215168	PMID:36574265	PMID:36736316	PMID:37616163

Genomics

Comparative Map Data

PRKD2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	46,674,316 - 46,717,114 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	46,674,275 - 46,717,127 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	47,177,573 - 47,220,371 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	51,869,413 - 51,912,224 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	51,869,412 - 51,911,506	NCBI
Celera	19	43,981,103 - 44,023,914 (-)	NCBI		Celera
Cytogenetic Map	19	q13.32	NCBI
HuRef	19	43,602,696 - 43,645,312 (-)	NCBI		HuRef
CHM1_1	19	47,179,449 - 47,222,284 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	49,499,855 - 49,545,002 (-)	NCBI		T2T-CHM13v2.0

Prkd2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	16,576,827 - 16,604,386 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	16,576,827 - 16,604,389 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	16,842,902 - 16,870,461 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	16,842,902 - 16,870,464 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	17,428,414 - 17,455,810 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	16,001,587 - 16,028,983 (+)	NCBI		MGSCv36	mm8
Celera	7	14,041,053 - 14,076,870 (+)	NCBI		Celera
Cytogenetic Map	7	A2	NCBI
cM Map	7	9.15	NCBI

Prkd2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	86,640,095 - 86,670,476 (+)	NCBI		GRCr8
mRatBN7.2	1	77,513,625 - 77,542,386 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	77,513,986 - 77,542,376 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	82,894,204 - 82,922,473 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	91,458,248 - 91,486,518 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	84,649,293 - 84,677,564 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	78,767,911 - 78,796,223 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	78,767,911 - 78,796,231 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	80,015,106 - 80,043,535 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	77,168,290 - 77,197,277 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	77,246,400 - 77,275,388 (+)	NCBI
Celera	1	71,999,137 - 72,027,468 (+)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Prkd2
(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_004955574	723,933 - 750,793 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955574	723,933 - 750,794 (-)	NCBI	ChiLan1.0	ChiLan1.0

PRKD2
(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	20	52,824,032 - 52,868,739 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	54,694,894 - 54,739,621 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	43,666,591 - 43,710,858 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	52,195,096 - 52,238,758 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	52,195,303 - 52,237,731 (-)	Ensembl	panpan1.1		panPan2

PRKD2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	109,206,400 - 109,241,529 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	109,207,067 - 109,330,007 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	108,686,213 - 108,721,121 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	109,732,886 - 109,767,802 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	109,732,806 - 109,767,767 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	109,410,008 - 109,444,923 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	109,044,199 - 109,079,115 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	109,912,894 - 109,947,820 (+)	NCBI		UU_Cfam_GSD_1.0

Prkd2
(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_024409349	18,906,807 - 18,933,390 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936664	522,910 - 551,469 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936664	524,532 - 551,451 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PRKD2
(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	52,559,393 - 52,599,132 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	52,559,066 - 52,599,174 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	47,880,007 - 47,919,799 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PRKD2
(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	6	40,028,214 - 40,071,523 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	40,027,552 - 40,071,455 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	19,740,729 - 19,783,637 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Prkd2
(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_004624832	6,886,327 - 6,915,179 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624832	6,885,627 - 6,915,316 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PRKD2
42 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	copy number gain	See cases [RCV000050320]	Chr19:46434490..46831000 [GRCh38] Chr19:46937747..47334257 [GRCh37] Chr19:51629587..52026097 [NCBI36] Chr19:19q13.32	uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	copy number gain	See cases [RCV000052913]	Chr19:46658791..49050450 [GRCh38] Chr19:47162048..49553707 [GRCh37] Chr19:51853888..54245519 [NCBI36] Chr19:19q13.32-13.33	pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	copy number loss	See cases [RCV000053976]	Chr19:46458122..47683579 [GRCh38] Chr19:46961379..48186836 [GRCh37] Chr19:51653219..52878648 [NCBI36] Chr19:19q13.32-13.33	pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	copy number gain	See cases [RCV000136578]	Chr19:44971420..48257402 [GRCh38] Chr19:45474677..48760659 [GRCh37] Chr19:50166517..53452471 [NCBI36] Chr19:19q13.32-13.33	pathogenic
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	copy number loss	See cases [RCV000137832]	Chr19:45387389..46831000 [GRCh38] Chr19:45890647..47334257 [GRCh37] Chr19:50582487..52026097 [NCBI36] Chr19:19q13.32	likely pathogenic
GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	copy number gain	See cases [RCV000148268]	Chr19:46434490..46831000 [GRCh38] Chr19:46937747..47334257 [GRCh37] Chr19:51629587..52026097 [NCBI36] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	copy number loss	See cases [RCV000240182]	Chr19:43013365..47241534 [GRCh37] Chr19:19q13.2-13.32	pathogenic
GRCh37/hg19 19q13.32(chr19:46918881-47782258)x3	copy number gain	See cases [RCV000446734]	Chr19:46918881..47782258 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	copy number loss	See cases [RCV000511362]	Chr19:46404248..48488721 [GRCh37] Chr19:19q13.32-13.33	likely pathogenic
NM_016457.5(PRKD2):c.46G>C (p.Gly16Arg)	single nucleotide variant	Inborn genetic diseases [RCV003253671]	Chr19:46716325 [GRCh38] Chr19:47219582 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_016457.5(PRKD2):c.62C>T (p.Pro21Leu)	single nucleotide variant	Inborn genetic diseases [RCV003279756]	Chr19:46716309 [GRCh38] Chr19:47219566 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.106C>T (p.Pro36Ser)	single nucleotide variant	Inborn genetic diseases [RCV003261220]	Chr19:46716265 [GRCh38] Chr19:47219522 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1589T>C (p.Leu530Pro)	single nucleotide variant	Inborn genetic diseases [RCV003253018]	Chr19:46691973 [GRCh38] Chr19:47195230 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_016457.5(PRKD2):c.1478G>C (p.Gly493Ala)	single nucleotide variant	not provided [RCV000962733]	Chr19:46693973 [GRCh38] Chr19:47197230 [GRCh37] Chr19:19q13.32	benign
NM_016457.5(PRKD2):c.918C>T (p.Cys306=)	single nucleotide variant	not provided [RCV000882940]	Chr19:46701084 [GRCh38] Chr19:47204341 [GRCh37] Chr19:19q13.32	benign
NC_000019.10:g.(?_46605817)_(46756948_?)dup	duplication	Walker-Warburg congenital muscular dystrophy [RCV001031501]	Chr19:47109074..47260205 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1824C>G (p.Pro608=)	single nucleotide variant	not provided [RCV000970363]	Chr19:46689684 [GRCh38] Chr19:47192941 [GRCh37] Chr19:19q13.32	benign
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	copy number gain	not provided [RCV000767770]	Chr19:47036361..48525536 [GRCh37] Chr19:19q13.32-13.33	pathogenic
NM_016457.5(PRKD2):c.1493G>A (p.Arg498Gln)	single nucleotide variant	Inborn genetic diseases [RCV003248224]	Chr19:46693958 [GRCh38] Chr19:47197215 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1318-9G>A	single nucleotide variant	not provided [RCV000962748]	Chr19:46694142 [GRCh38] Chr19:47197399 [GRCh37] Chr19:19q13.32	benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	copy number gain	not provided [RCV001007050]	Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42	pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	copy number gain	not provided [RCV001007051]	Chr19:45531056..48174177 [GRCh37] Chr19:19q13.32-13.33	uncertain significance
NM_016457.5(PRKD2):c.667-6C>T	single nucleotide variant	not provided [RCV001641355]	Chr19:46704397 [GRCh38] Chr19:47207654 [GRCh37] Chr19:19q13.32	benign
GRCh37/hg19 19q13.32(chr19:46918881-47782258)	copy number gain	not specified [RCV002052687]	Chr19:46918881..47782258 [GRCh37] Chr19:19q13.32	uncertain significance
NC_000019.9:g.(?_47104692)_(47260195_?)dup	duplication	Long QT syndrome 1 [RCV001918807]	Chr19:47104692..47260195 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	copy number gain	Coffin-Siris syndrome 12 [RCV003232036]	Chr19:47028919..48185409 [GRCh37] Chr19:19q13.32-13.33	likely pathogenic
NM_016457.5(PRKD2):c.239A>G (p.Lys80Arg)	single nucleotide variant	Inborn genetic diseases [RCV002773459]	Chr19:46716132 [GRCh38] Chr19:47219389 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.2191T>A (p.Ser731Thr)	single nucleotide variant	Inborn genetic diseases [RCV002686785]	Chr19:46678543 [GRCh38] Chr19:47181800 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1934G>A (p.Arg645Gln)	single nucleotide variant	Inborn genetic diseases [RCV002818687]	Chr19:46689574 [GRCh38] Chr19:47192831 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.928G>A (p.Val310Ile)	single nucleotide variant	Inborn genetic diseases [RCV002728221]	Chr19:46701074 [GRCh38] Chr19:47204331 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.2494A>G (p.Ser832Gly)	single nucleotide variant	Inborn genetic diseases [RCV002863914]	Chr19:46674666 [GRCh38] Chr19:47177923 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.2288A>G (p.Asn763Ser)	single nucleotide variant	Inborn genetic diseases [RCV002728005]	Chr19:46678446 [GRCh38] Chr19:47181703 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1418A>G (p.Asn473Ser)	single nucleotide variant	Inborn genetic diseases [RCV002752801]	Chr19:46694033 [GRCh38] Chr19:47197290 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.2333C>T (p.Ala778Val)	single nucleotide variant	Inborn genetic diseases [RCV002911869]	Chr19:46678401 [GRCh38] Chr19:47181658 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.2103C>G (p.Ile701Met)	single nucleotide variant	Inborn genetic diseases [RCV002744199]	Chr19:46678631 [GRCh38] Chr19:47181888 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.53G>T (p.Gly18Val)	single nucleotide variant	Inborn genetic diseases [RCV002827090]	Chr19:46716318 [GRCh38] Chr19:47219575 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1388A>G (p.Asn463Ser)	single nucleotide variant	Inborn genetic diseases [RCV002697635]	Chr19:46694063 [GRCh38] Chr19:47197320 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.2620C>T (p.Arg874Cys)	single nucleotide variant	Inborn genetic diseases [RCV002874368]	Chr19:46674540 [GRCh38] Chr19:47177797 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1379C>T (p.Pro460Leu)	single nucleotide variant	Inborn genetic diseases [RCV002965686]	Chr19:46694072 [GRCh38] Chr19:47197329 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1096G>A (p.Glu366Lys)	single nucleotide variant	Inborn genetic diseases [RCV002898151]	Chr19:46700824 [GRCh38] Chr19:47204081 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.260A>G (p.Tyr87Cys)	single nucleotide variant	Inborn genetic diseases [RCV002878015]	Chr19:46713982 [GRCh38] Chr19:47217239 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.2354A>G (p.Asn785Ser)	single nucleotide variant	Inborn genetic diseases [RCV002719808]	Chr19:46675103 [GRCh38] Chr19:47178360 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1817G>A (p.Arg606Gln)	single nucleotide variant	Inborn genetic diseases [RCV002878014]	Chr19:46689691 [GRCh38] Chr19:47192948 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.2342T>C (p.Ile781Thr)	single nucleotide variant	Inborn genetic diseases [RCV002677624]	Chr19:46675115 [GRCh38] Chr19:47178372 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1343C>T (p.Thr448Met)	single nucleotide variant	Inborn genetic diseases [RCV003173131]	Chr19:46694108 [GRCh38] Chr19:47197365 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1015G>A (p.Ala339Thr)	single nucleotide variant	Inborn genetic diseases [RCV003191017]	Chr19:46700905 [GRCh38] Chr19:47204162 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1397G>T (p.Cys466Phe)	single nucleotide variant	Inborn genetic diseases [RCV003211512]	Chr19:46694054 [GRCh38] Chr19:47197311 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.2361G>A (p.Leu787=)	single nucleotide variant	not provided [RCV003407040]	Chr19:46675096 [GRCh38] Chr19:47178353 [GRCh37] Chr19:19q13.32	likely benign
GRCh37/hg19 19q13.32(chr19:47185918-47435756)x3	copy number gain	not specified [RCV003986114]	Chr19:47185918..47435756 [GRCh37] Chr19:19q13.32	uncertain significance
NM_016457.5(PRKD2):c.1480G>A (p.Ala494Thr)	single nucleotide variant	PRKD2-related condition [RCV003969754]	Chr19:46693971 [GRCh38] Chr19:47197228 [GRCh37] Chr19:19q13.32	likely benign
NM_016457.5(PRKD2):c.572C>T (p.Ala191Val)	single nucleotide variant	PRKD2-related condition [RCV003942116]	Chr19:46704589 [GRCh38] Chr19:47207846 [GRCh37] Chr19:19q13.32	likely benign
NM_016457.5(PRKD2):c.1009_1010del (p.Lys337fs)	deletion	PRKD2-related condition [RCV003971758]	Chr19:46700910..46700911 [GRCh38] Chr19:47204167..47204168 [GRCh37] Chr19:19q13.32	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR17	hsa-miR-17-5p	Mirecords	external_info	NA	NA	18700987

Predicted Target Of

	Summary Value
Count of predictions:	5006
Count of miRNA genes:	999
Interacting mature miRNAs:	1264
Transcripts:	ENST00000291281, ENST00000433867, ENST00000593363, ENST00000593492, ENST00000595132, ENST00000595515, ENST00000597088, ENST00000597390, ENST00000597589, ENST00000597641, ENST00000598633, ENST00000599019, ENST00000599464, ENST00000600194, ENST00000601605, ENST00000601806, ENST00000602155
Prediction methods:	Microtar, 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.

Markers in Region

A006X30

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	47,177,597 - 47,177,723	UniSTS	GRCh37
Build 36	19	51,869,437 - 51,869,563	RGD	NCBI36
Celera	19	43,981,127 - 43,981,253	RGD
Cytogenetic Map	19	q13.3	UniSTS
HuRef	19	43,602,720 - 43,602,846	UniSTS
GeneMap99-GB4 RH Map	19	255.98	UniSTS
NCBI RH Map	19	516.7	UniSTS

D19S1076

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	47,177,608 - 47,177,721	UniSTS	GRCh37
GRCh37	19	47,177,639 - 47,177,788	UniSTS	GRCh37
Build 36	19	51,869,448 - 51,869,561	RGD	NCBI36
Celera	19	43,981,138 - 43,981,251	RGD
Celera	19	43,981,169 - 43,981,318	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
HuRef	19	43,602,731 - 43,602,844	UniSTS
HuRef	19	43,602,762 - 43,602,911	UniSTS
TNG Radiation Hybrid Map	19	17573.0	UniSTS
Stanford-G3 RH Map	19	2361.0	UniSTS
NCBI RH Map	19	509.8	UniSTS
GeneMap99-G3 RH Map	19	2372.0	UniSTS

D19S1076

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	19	q13.3	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2410

2268

1407

352

1915

194

3575

1038

1100

338

1414

1596

171

1204

2017

Low

722

318

272

271

781

1159

2616

771

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001079880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001079881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001079882	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_016457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005258716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054320484	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054320485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054320486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054320487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054320488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC008635	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC093503	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF151021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF309082	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092896	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303629	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL050147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015472	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC025307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ783562	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA475821	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC877745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000291281 ⟹ ENSP00000291281

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,674,316 - 46,717,114 (-)	Ensembl

RefSeq Acc Id:

ENST00000433867 ⟹ ENSP00000393978

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,674,317 - 46,717,127 (-)	Ensembl

RefSeq Acc Id:

ENST00000593363 ⟹ ENSP00000472987

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,716,165 - 46,717,112 (-)	Ensembl

RefSeq Acc Id:

ENST00000593492

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,678,529 - 46,686,180 (-)	Ensembl

RefSeq Acc Id:

ENST00000595132 ⟹ ENSP00000470363

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,704,487 - 46,714,599 (-)	Ensembl

RefSeq Acc Id:

ENST00000595515 ⟹ ENSP00000470804

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,674,508 - 46,717,115 (-)	Ensembl

RefSeq Acc Id:

ENST00000597088

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,710,354 - 46,714,032 (-)	Ensembl

RefSeq Acc Id:

ENST00000597390 ⟹ ENSP00000472913

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,674,314 - 46,691,985 (-)	Ensembl

RefSeq Acc Id:

ENST00000597589

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,674,346 - 46,697,341 (-)	Ensembl

RefSeq Acc Id:

ENST00000597641 ⟹ ENSP00000469064

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,704,337 - 46,716,244 (-)	Ensembl

RefSeq Acc Id:

ENST00000598633 ⟹ ENSP00000470919

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,704,634 - 46,717,114 (-)	Ensembl

RefSeq Acc Id:

ENST00000599019

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,674,339 - 46,697,325 (-)	Ensembl

RefSeq Acc Id:

ENST00000599464

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,681,683 - 46,691,851 (-)	Ensembl

RefSeq Acc Id:

ENST00000600194 ⟹ ENSP00000472744

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,674,320 - 46,714,324 (-)	Ensembl

RefSeq Acc Id:

ENST00000601605 ⟹ ENSP00000470442

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,697,840 - 46,714,023 (-)	Ensembl

RefSeq Acc Id:

ENST00000601806 ⟹ ENSP00000469106

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,674,275 - 46,717,082 (-)	Ensembl

RefSeq Acc Id:

ENST00000602155

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	46,674,319 - 46,689,709 (-)	Ensembl

RefSeq Acc Id:

NM_001079880 ⟹ NP_001073349

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	46,674,316 - 46,717,114 (-)	NCBI
GRCh37	19	47,177,573 - 47,220,384 (-)	NCBI
Build 36	19	51,869,413 - 51,912,224 (-)	NCBI Archive
HuRef	19	43,602,696 - 43,645,312 (-)	ENTREZGENE
CHM1_1	19	47,179,449 - 47,222,284 (-)	NCBI
T2T-CHM13v2.0	19	49,499,855 - 49,542,704 (-)	NCBI

Sequence:

show sequence

ACACTTCCTCCTGGGCCGCCGCCGCCGCCGCCGACTTAAACTTTGGAGGGGGAAAAAGAGCTAC
TGGCGCCTGGCGACCCTCCCTGCCCCCCACCCAACCCCGCTCCGGCAACGCCCCCTTCCTCACG
GCTCCCGACCGAACTTTTCTCCAACTTCTGCGACTCGTGAGATTCCCTTCTACCCACTCCGGCC
CTCGGGACCCCTCTGCCCATCCCCTGGCCGGTCGGGTCCCTGCGAACCCCTTTATCTCTGGAAT
CCACTCGGTCCCCGACTCAGAGACTCCTGCCCTCCACCCCCAAGGACCCCGCCATCCTCAGGTC
CCCTCCGCCTGCCAGATCTTTTCTCGGATCCCCGCTCTCCCACCACCTGCTCACGAGATCCCGC
GGATCTAGAACCCAGGGTCCCCCGGGGCCCCCCGGCCGGGTCCCGGGTGGGCTCCAGGCGGCCG
GTCCCCGGCCTCCCCCCATGGCCACCGCCCCCTCTTATCCCGCCGGGCTCCCTGGCTCTCCCGG
GCCGGGGTCTCCTCCGCCCCCCGGCGGCCTAGAGCTGCAGTCGCCGCCACCGCTACTGCCCCAG
ATCCCGGCCCCGGGTTCCGGGGTCTCCTTTCACATCCAGATCGGGCTGACCCGCGAGTTCGTGC
TGTTGCCCGCCGCCTCCGAGCTGGCTCATGTGAAGCAGCTGGCCTGTTCCATCGTGGACCAGAA
GTTCCCTGAGTGTGGCTTCTACGGCCTTTACGACAAGATCCTGCTTTTCAAACATGACCCCACG
TCGGCCAACCTCCTGCAGCTGGTGCGCTCGTCCGGAGACATCCAGGAGGGCGACCTGGTGGAGG
TGGTGCTGTCGGCCTCGGCCACCTTCGAGGACTTCCAGATCCGCCCGCACGCCCTCACGGTGCA
CTCCTATCGGGCGCCTGCCTTCTGTGATCACTGCGGGGAGATGCTCTTCGGCCTAGTGCGCCAG
GGCCTCAAGTGCGATGGCTGCGGGCTGAACTACCACAAGCGCTGTGCCTTCAGCATCCCCAACA
ACTGTAGTGGGGCCCGCAAACGGCGCCTGTCATCCACGTCTCTGGCCAGTGGCCACTCGGTGCG
CCTCGGCACCTCCGAGTCCCTGCCCTGCACGGCTGAAGAGCTGAGCCGTAGCACCACCGAACTC
CTGCCTCGCCGTCCCCCGTCATCCTCTTCCTCCTCTTCTGCCTCATCGTATACGGGCCGCCCCA
TTGAGCTGGACAAGATGCTGCTCTCCAAGGTCAAGGTGCCGCACACCTTCCTCATCCACAGCTA
TACACGGCCCACCGTTTGCCAGGCTTGCAAGAAACTCCTCAAGGGCCTCTTCCGGCAGGGCCTG
CAATGCAAAGACTGCAAGTTTAACTGTCACAAACGCTGCGCCACCCGCGTCCCTAATGACTGCC
TGGGGGAGGCCCTTATCAATGGAGATGTGCCGATGGAGGAGGCCACCGATTTCAGCGAGGCTGA
CAAGAGCGCCCTCATGGATGAGTCAGAGGACTCCGGTGTCATCCCTGGCTCCCACTCAGAGAAT
GCGCTCCACGCCAGTGAGGAGGAGGAAGGCGAGGGAGGCAAGGCCCAGAGCTCCCTGGGGTACA
TCCCCCTAATGAGGGTGGTGCAATCGGTGCGACACACGACGCGGAAATCCAGCACCACGCTGCG
GGAGGGTTGGGTGGTTCATTACAGCAACAAGGACACGCTGAGAAAGCGGCACTATTGGCGCCTG
GACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGAAATTCCGC
TGTCAGAAATCCTCACGGTGGAGTCCGCCCAGAACTTCAGCCTTGTGCCGCCGGGCACCAACCC
ACACTGCTTTGAGATCGTCACTGCCAATGCCACCTACTTCGTGGGCGAGATGCCTGGCGGGACT
CCGGGTGGGCCAAGTGGGCAGGGGGCTGAGGCCGCCCGGGGCTGGGAGACAGCCATCCGCCAGG
CCCTGATGCCCGTCATCCTTCAGGACGCACCCAGCGCCCCAGGCCACGCGCCCCACAGACAAGC
TTCTCTGAGCATCTCTGTGTCCAACAGTCAGATCCAAGAGAATGTGGACATTGCCACTGTCTAC
CAGATCTTCCCTGACGAAGTGCTGGGCTCAGGGCAGTTTGGAGTGGTCTATGGAGGAAAACACC
GGAAGACAGGCCGGGACGTGGCAGTTAAGGTCATTGACAAACTGCGCTTCCCTACCAAGCAGGA
GAGCCAGCTCCGGAATGAAGTGGCCATTCTGCAGAGCCTGCGGCATCCCGGGATCGTGAACCTG
GAGTGCATGTTCGAGACGCCTGAGAAAGTGTTTGTGGTGATGGAGAAGCTGCATGGGGACATGT
TGGAGATGATCCTGTCCAGTGAGAAGGGCCGGCTGCCTGAGCGCCTCACCAAGTTCCTCATCAC
CCAGATCCTGGTGGCTTTGAGACACCTTCACTTCAAGAACATTGTCCACTGTGACTTGAAACCA
GAAAACGTGTTGCTGGCATCAGCAGACCCATTTCCTCAGGTGAAGCTGTGTGACTTTGGCTTTG
CTCGCATCATCGGCGAGAAGTCGTTCCGCCGCTCAGTGGTGGGCACGCCGGCCTACCTGGCACC
CGAGGTGCTGCTCAACCAGGGCTACAACCGCTCGCTGGACATGTGGTCAGTGGGCGTGATCATG
TACGTCAGCCTCAGCGGCACCTTCCCTTTCAACGAGGATGAGGACATCAATGACCAGATCCAGA
ACGCCGCCTTCATGTACCCGGCCAGCCCCTGGAGCCACATCTCAGCTGGAGCCATTGACCTCAT
CAACAACCTGCTGCAGGTGAAGATGCGCAAACGCTACAGCGTGGACAAATCTCTCAGCCACCCC
TGGTTACAGGAGTACCAGACGTGGCTGGACCTCCGAGAGCTGGAGGGGAAGATGGGAGAGCGAT
ACATCACGCATGAGAGTGACGACGCGCGCTGGGAGCAGTTTGCAGCAGAGCATCCGCTGCCTGG
GTCTGGGCTGCCCACGGACAGGGATCTCGGTGGGGCCTGTCCACCACAGGACCACGACATGCAG
GGGCTGGCGGAGCGCATCAGTGTTCTCTGAGGTCCTGTGCCCTCGTCCAGCTGCTGCCCTCCAC
AGCGGTTCTTCACAGGATCCCAGCAATGAACTGTTCTAGGGAAAGTGGCTTCCTGCCCAAACTG
GATGGGACACGTGGGGAGTGGGGTGGGGGGAGCTATTTCCAAGGCCCCTCCCTGTTTCCCCAGC
AATTAAAACGGACTCATCTCTGGCCCCATGGCCTTGATCTCAGCA

hide sequence

RefSeq Acc Id:

NM_001079881 ⟹ NP_001073350

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	46,674,316 - 46,717,114 (-)	NCBI
GRCh37	19	47,177,573 - 47,220,384 (-)	NCBI
Build 36	19	51,869,413 - 51,912,224 (-)	NCBI Archive
HuRef	19	43,602,696 - 43,645,312 (-)	ENTREZGENE
CHM1_1	19	47,179,449 - 47,222,284 (-)	NCBI
T2T-CHM13v2.0	19	49,499,855 - 49,542,704 (-)	NCBI

Sequence:

show sequence

ACACTTCCTCCTGGGCCGCCGCCGCCGCCGCCGACTTAAACTTTGGAGGGGGAAAAAGAGCTAC
TGGCGCCTGGCGACCCTCCCTGCCCCCCACCCAACCCCGCTCCGGCAACGCCCCCTTCCTCACG
GCTCCCGACCGAACTTTTCTCCAACTTCTGCGACTCGACCCCGCCATCCTCAGGTCCCCTCCGC
CTGCCAGATCTTTTCTCGGATCCCCGCTCTCCCACCACCTGCTCACGAGATCCCGCGGATCTAG
AACCCAGGGTCCCCCGGGGCCCCCCGGCCGGGTCCCGGGTGGGCTCCAGGCGGCCGGTCCCCGG
CCTCCCCCCATGGCCACCGCCCCCTCTTATCCCGCCGGGCTCCCTGGCTCTCCCGGGCCGGGGT
CTCCTCCGCCCCCCGGCGGCCTAGAGCTGCAGTCGCCGCCACCGCTACTGCCCCAGATCCCGGC
CCCGGGTTCCGGGGTCTCCTTTCACATCCAGATCGGGCTGACCCGCGAGTTCGTGCTGTTGCCC
GCCGCCTCCGAGCTGGCTCATGTGAAGCAGCTGGCCTGTTCCATCGTGGACCAGAAGTTCCCTG
AGTGTGGCTTCTACGGCCTTTACGACAAGATCCTGCTTTTCAAACATGACCCCACGTCGGCCAA
CCTCCTGCAGCTGGTGCGCTCGTCCGGAGACATCCAGGAGGGCGACCTGGTGGAGGTGGTGCTG
TCGGCCTCGGCCACCTTCGAGGACTTCCAGATCCGCCCGCACGCCCTCACGGTGCACTCCTATC
GGGCGCCTGCCTTCTGTGATCACTGCGGGGAGATGCTCTTCGGCCTAGTGCGCCAGGGCCTCAA
GTGCGATGGCTGCGGGCTGAACTACCACAAGCGCTGTGCCTTCAGCATCCCCAACAACTGTAGT
GGGGCCCGCAAACGGCGCCTGTCATCCACGTCTCTGGCCAGTGGCCACTCGGTGCGCCTCGGCA
CCTCCGAGTCCCTGCCCTGCACGGCTGAAGAGCTGAGCCGTAGCACCACCGAACTCCTGCCTCG
CCGTCCCCCGTCATCCTCTTCCTCCTCTTCTGCCTCATCGTATACGGGCCGCCCCATTGAGCTG
GACAAGATGCTGCTCTCCAAGGTCAAGGTGCCGCACACCTTCCTCATCCACAGCTATACACGGC
CCACCGTTTGCCAGGCTTGCAAGAAACTCCTCAAGGGCCTCTTCCGGCAGGGCCTGCAATGCAA
AGACTGCAAGTTTAACTGTCACAAACGCTGCGCCACCCGCGTCCCTAATGACTGCCTGGGGGAG
GCCCTTATCAATGGAGATGTGCCGATGGAGGAGGCCACCGATTTCAGCGAGGCTGACAAGAGCG
CCCTCATGGATGAGTCAGAGGACTCCGGTGTCATCCCTGGCTCCCACTCAGAGAATGCGCTCCA
CGCCAGTGAGGAGGAGGAAGGCGAGGGAGGCAAGGCCCAGAGCTCCCTGGGGTACATCCCCCTA
ATGAGGGTGGTGCAATCGGTGCGACACACGACGCGGAAATCCAGCACCACGCTGCGGGAGGGTT
GGGTGGTTCATTACAGCAACAAGGACACGCTGAGAAAGCGGCACTATTGGCGCCTGGACTGCAA
GTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGAAATTCCGCTGTCAGAA
ATCCTCACGGTGGAGTCCGCCCAGAACTTCAGCCTTGTGCCGCCGGGCACCAACCCACACTGCT
TTGAGATCGTCACTGCCAATGCCACCTACTTCGTGGGCGAGATGCCTGGCGGGACTCCGGGTGG
GCCAAGTGGGCAGGGGGCTGAGGCCGCCCGGGGCTGGGAGACAGCCATCCGCCAGGCCCTGATG
CCCGTCATCCTTCAGGACGCACCCAGCGCCCCAGGCCACGCGCCCCACAGACAAGCTTCTCTGA
GCATCTCTGTGTCCAACAGTCAGATCCAAGAGAATGTGGACATTGCCACTGTCTACCAGATCTT
CCCTGACGAAGTGCTGGGCTCAGGGCAGTTTGGAGTGGTCTATGGAGGAAAACACCGGAAGACA
GGCCGGGACGTGGCAGTTAAGGTCATTGACAAACTGCGCTTCCCTACCAAGCAGGAGAGCCAGC
TCCGGAATGAAGTGGCCATTCTGCAGAGCCTGCGGCATCCCGGGATCGTGAACCTGGAGTGCAT
GTTCGAGACGCCTGAGAAAGTGTTTGTGGTGATGGAGAAGCTGCATGGGGACATGTTGGAGATG
ATCCTGTCCAGTGAGAAGGGCCGGCTGCCTGAGCGCCTCACCAAGTTCCTCATCACCCAGATCC
TGGTGGCTTTGAGACACCTTCACTTCAAGAACATTGTCCACTGTGACTTGAAACCAGAAAACGT
GTTGCTGGCATCAGCAGACCCATTTCCTCAGGTGAAGCTGTGTGACTTTGGCTTTGCTCGCATC
ATCGGCGAGAAGTCGTTCCGCCGCTCAGTGGTGGGCACGCCGGCCTACCTGGCACCCGAGGTGC
TGCTCAACCAGGGCTACAACCGCTCGCTGGACATGTGGTCAGTGGGCGTGATCATGTACGTCAG
CCTCAGCGGCACCTTCCCTTTCAACGAGGATGAGGACATCAATGACCAGATCCAGAACGCCGCC
TTCATGTACCCGGCCAGCCCCTGGAGCCACATCTCAGCTGGAGCCATTGACCTCATCAACAACC
TGCTGCAGGTGAAGATGCGCAAACGCTACAGCGTGGACAAATCTCTCAGCCACCCCTGGTTACA
GGAGTACCAGACGTGGCTGGACCTCCGAGAGCTGGAGGGGAAGATGGGAGAGCGATACATCACG
CATGAGAGTGACGACGCGCGCTGGGAGCAGTTTGCAGCAGAGCATCCGCTGCCTGGGTCTGGGC
TGCCCACGGACAGGGATCTCGGTGGGGCCTGTCCACCACAGGACCACGACATGCAGGGGCTGGC
GGAGCGCATCAGTGTTCTCTGAGGTCCTGTGCCCTCGTCCAGCTGCTGCCCTCCACAGCGGTTC
TTCACAGGATCCCAGCAATGAACTGTTCTAGGGAAAGTGGCTTCCTGCCCAAACTGGATGGGAC
ACGTGGGGAGTGGGGTGGGGGGAGCTATTTCCAAGGCCCCTCCCTGTTTCCCCAGCAATTAAAA
CGGACTCATCTCTGGCCCCATGGCCTTGATCTCAGCA

hide sequence

RefSeq Acc Id:

NM_001079882 ⟹ NP_001073351

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	46,674,316 - 46,714,320 (-)	NCBI
GRCh37	19	47,177,573 - 47,220,384 (-)	ENTREZGENE
Build 36	19	51,869,413 - 51,909,417 (-)	NCBI Archive
HuRef	19	43,602,696 - 43,645,312 (-)	ENTREZGENE
CHM1_1	19	47,179,449 - 47,219,483 (-)	NCBI
T2T-CHM13v2.0	19	49,499,855 - 49,539,902 (-)	NCBI

Sequence:

show sequence

ATTCAGCATCCCCTCCCACCTCCGCCAGGTTCCGGAAAATTCGAGGTGTCCACGCTCCCGGAGC
CACTCTCCCTCCCACCCCAGCTCCCCCTTCCAGCCACCAAACCCACGCCGGCGCCCCCTCCCCG
TACAATTGGGGCGCTGGCATCCTGCCCGGCTCGCGCTGGGGTTGGGAGGGGGCAGGCAGGAAGC
GAGGGCCTGCGGGGTCTCTGCGTTTCCGGGGGAAACAGCCGGCCCTGCCCTGGGAGGGTCACAG
TCCGCCCGCTGCTGAAGGCGGCTCTGAGCTTTTCCGTCGCCACATCCCTCTCCCGCCCCTCAGT
TCCCTGAGTGTGGCTTCTACGGCCTTTACGACAAGATCCTGCTTTTCAAACATGACCCCACGTC
GGCCAACCTCCTGCAGCTGGTGCGCTCGTCCGGAGACATCCAGGAGGGCGACCTGGTGGAGGTG
GTGCTGTCGGCCTCGGCCACCTTCGAGGACTTCCAGATCCGCCCGCACGCCCTCACGGTGCACT
CCTATCGGGCGCCTGCCTTCTGTGATCACTGCGGGGAGATGCTCTTCGGCCTAGTGCGCCAGGG
CCTCAAGTGCGATGGCTGCGGGCTGAACTACCACAAGCGCTGTGCCTTCAGCATCCCCAACAAC
TGTAGTGGGGCCCGCAAACGGCGCCTGTCATCCACGTCTCTGGCCAGTGGCCACTCGGTGCGCC
TCGGCACCTCCGAGTCCCTGCCCTGCACGGCTGAAGAGCTGAGCCGTAGCACCACCGAACTCCT
GCCTCGCCGTCCCCCGTCATCCTCTTCCTCCTCTTCTGCCTCATCGTATACGGGCCGCCCCATT
GAGCTGGACAAGATGCTGCTCTCCAAGGTCAAGGTGCCGCACACCTTCCTCATCCACAGCTATA
CACGGCCCACCGTTTGCCAGGCTTGCAAGAAACTCCTCAAGGGCCTCTTCCGGCAGGGCCTGCA
ATGCAAAGACTGCAAGTTTAACTGTCACAAACGCTGCGCCACCCGCGTCCCTAATGACTGCCTG
GGGGAGGCCCTTATCAATGGAGATGTGCCGATGGAGGAGGCCACCGATTTCAGCGAGGCTGACA
AGAGCGCCCTCATGGATGAGTCAGAGGACTCCGGTGTCATCCCTGGCTCCCACTCAGAGAATGC
GCTCCACGCCAGTGAGGAGGAGGAAGGCGAGGGAGGCAAGGCCCAGAGCTCCCTGGGGTACATC
CCCCTAATGAGGGTGGTGCAATCGGTGCGACACACGACGCGGAAATCCAGCACCACGCTGCGGG
AGGGTTGGGTGGTTCATTACAGCAACAAGGACACGCTGAGAAAGCGGCACTATTGGCGCCTGGA
CTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGAAATTCCGCTG
TCAGAAATCCTCACGGTGGAGTCCGCCCAGAACTTCAGCCTTGTGCCGCCGGGCACCAACCCAC
ACTGCTTTGAGATCGTCACTGCCAATGCCACCTACTTCGTGGGCGAGATGCCTGGCGGGACTCC
GGGTGGGCCAAGTGGGCAGGGGGCTGAGGCCGCCCGGGGCTGGGAGACAGCCATCCGCCAGGCC
CTGATGCCCGTCATCCTTCAGGACGCACCCAGCGCCCCAGGCCACGCGCCCCACAGACAAGCTT
CTCTGAGCATCTCTGTGTCCAACAGTCAGATCCAAGAGAATGTGGACATTGCCACTGTCTACCA
GATCTTCCCTGACGAAGTGCTGGGCTCAGGGCAGTTTGGAGTGGTCTATGGAGGAAAACACCGG
AAGACAGGCCGGGACGTGGCAGTTAAGGTCATTGACAAACTGCGCTTCCCTACCAAGCAGGAGA
GCCAGCTCCGGAATGAAGTGGCCATTCTGCAGAGCCTGCGGCATCCCGGGATCGTGAACCTGGA
GTGCATGTTCGAGACGCCTGAGAAAGTGTTTGTGGTGATGGAGAAGCTGCATGGGGACATGTTG
GAGATGATCCTGTCCAGTGAGAAGGGCCGGCTGCCTGAGCGCCTCACCAAGTTCCTCATCACCC
AGATCCTGGTGGCTTTGAGACACCTTCACTTCAAGAACATTGTCCACTGTGACTTGAAACCAGA
AAACGTGTTGCTGGCATCAGCAGACCCATTTCCTCAGGTGAAGCTGTGTGACTTTGGCTTTGCT
CGCATCATCGGCGAGAAGTCGTTCCGCCGCTCAGTGGTGGGCACGCCGGCCTACCTGGCACCCG
AGGTGCTGCTCAACCAGGGCTACAACCGCTCGCTGGACATGTGGTCAGTGGGCGTGATCATGTA
CGTCAGCCTCAGCGGCACCTTCCCTTTCAACGAGGATGAGGACATCAATGACCAGATCCAGAAC
GCCGCCTTCATGTACCCGGCCAGCCCCTGGAGCCACATCTCAGCTGGAGCCATTGACCTCATCA
ACAACCTGCTGCAGGTGAAGATGCGCAAACGCTACAGCGTGGACAAATCTCTCAGCCACCCCTG
GTTACAGGAGTACCAGACGTGGCTGGACCTCCGAGAGCTGGAGGGGAAGATGGGAGAGCGATAC
ATCACGCATGAGAGTGACGACGCGCGCTGGGAGCAGTTTGCAGCAGAGCATCCGCTGCCTGGGT
CTGGGCTGCCCACGGACAGGGATCTCGGTGGGGCCTGTCCACCACAGGACCACGACATGCAGGG
GCTGGCGGAGCGCATCAGTGTTCTCTGAGGTCCTGTGCCCTCGTCCAGCTGCTGCCCTCCACAG
CGGTTCTTCACAGGATCCCAGCAATGAACTGTTCTAGGGAAAGTGGCTTCCTGCCCAAACTGGA
TGGGACACGTGGGGAGTGGGGTGGGGGGAGCTATTTCCAAGGCCCCTCCCTGTTTCCCCAGCAA
TTAAAACGGACTCATCTCTGGCCCCATGGCCTTGATCTCAGCA

hide sequence

RefSeq Acc Id:

NM_016457 ⟹ NP_057541

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	46,674,316 - 46,717,114 (-)	NCBI
GRCh37	19	47,177,573 - 47,220,384 (-)	ENTREZGENE
Build 36	19	51,869,413 - 51,912,224 (-)	NCBI Archive
HuRef	19	43,602,696 - 43,645,312 (-)	ENTREZGENE
CHM1_1	19	47,179,449 - 47,222,284 (-)	NCBI
T2T-CHM13v2.0	19	49,499,855 - 49,542,704 (-)	NCBI

Sequence:

show sequence

ACACTTCCTCCTGGGCCGCCGCCGCCGCCGCCGACTTAAACTTTGGAGGGGGAAAAAGAGCTAC
TGGCGCCTGGCGACCCTCCCTGCCCCCCACCCAACCCCGCTCCGGCAACGCCCCCTTCCTCACG
GCTCCCGACCGAACTTTTCTCCAACTTCTGCGACTCGTGAGATTCCCTTCTACCCACTCCGGCC
CTCGGGACCCCTCTGCCCATCCCCTGGCCGGTCGGGTCCCTGCGAACCCCTTTATCTCTGGAAT
CCACTCGGTCCCCGACTCAGAGACTCCTGCCCTCCACCCCCAAGGTGAATTCCCCCGGGCCGCC
TTCTGAGTGGGATCCTCTTCTTGGAGCACTGGATCCTGGGATTCCCTCTGCCCCCTTCTCAATC
CCTCCTCTAGGGAAGGGGCCTTTGAATCGCGGGCTCTCCTGATCCCTGTGACCCCGACCTACTA
GATTTCCTCTCAGGCTTCTTGGAATCTCAATCGCTGGGACCTCCAACCCACTACTTTTCTCCTT
TCTGATCTTCTGGGAGCCCTGGATTCCGGGCCTCTGACCCACTATAGTGCCTTTCTCTCCTTCC
CAGGACCCCGCCATCCTCAGGTCCCCTCCGCCTGCCAGATCTTTTCTCGGATCCCCGCTCTCCC
ACCACCTGCTCACGAGATCCCGCGGATCTAGAACCCAGGGTCCCCCGGGGCCCCCCGGCCGGGT
CCCGGGTGGGCTCCAGGCGGCCGGTCCCCGGCCTCCCCCCATGGCCACCGCCCCCTCTTATCCC
GCCGGGCTCCCTGGCTCTCCCGGGCCGGGGTCTCCTCCGCCCCCCGGCGGCCTAGAGCTGCAGT
CGCCGCCACCGCTACTGCCCCAGATCCCGGCCCCGGGTTCCGGGGTCTCCTTTCACATCCAGAT
CGGGCTGACCCGCGAGTTCGTGCTGTTGCCCGCCGCCTCCGAGCTGGCTCATGTGAAGCAGCTG
GCCTGTTCCATCGTGGACCAGAAGTTCCCTGAGTGTGGCTTCTACGGCCTTTACGACAAGATCC
TGCTTTTCAAACATGACCCCACGTCGGCCAACCTCCTGCAGCTGGTGCGCTCGTCCGGAGACAT
CCAGGAGGGCGACCTGGTGGAGGTGGTGCTGTCGGCCTCGGCCACCTTCGAGGACTTCCAGATC
CGCCCGCACGCCCTCACGGTGCACTCCTATCGGGCGCCTGCCTTCTGTGATCACTGCGGGGAGA
TGCTCTTCGGCCTAGTGCGCCAGGGCCTCAAGTGCGATGGCTGCGGGCTGAACTACCACAAGCG
CTGTGCCTTCAGCATCCCCAACAACTGTAGTGGGGCCCGCAAACGGCGCCTGTCATCCACGTCT
CTGGCCAGTGGCCACTCGGTGCGCCTCGGCACCTCCGAGTCCCTGCCCTGCACGGCTGAAGAGC
TGAGCCGTAGCACCACCGAACTCCTGCCTCGCCGTCCCCCGTCATCCTCTTCCTCCTCTTCTGC
CTCATCGTATACGGGCCGCCCCATTGAGCTGGACAAGATGCTGCTCTCCAAGGTCAAGGTGCCG
CACACCTTCCTCATCCACAGCTATACACGGCCCACCGTTTGCCAGGCTTGCAAGAAACTCCTCA
AGGGCCTCTTCCGGCAGGGCCTGCAATGCAAAGACTGCAAGTTTAACTGTCACAAACGCTGCGC
CACCCGCGTCCCTAATGACTGCCTGGGGGAGGCCCTTATCAATGGAGATGTGCCGATGGAGGAG
GCCACCGATTTCAGCGAGGCTGACAAGAGCGCCCTCATGGATGAGTCAGAGGACTCCGGTGTCA
TCCCTGGCTCCCACTCAGAGAATGCGCTCCACGCCAGTGAGGAGGAGGAAGGCGAGGGAGGCAA
GGCCCAGAGCTCCCTGGGGTACATCCCCCTAATGAGGGTGGTGCAATCGGTGCGACACACGACG
CGGAAATCCAGCACCACGCTGCGGGAGGGTTGGGTGGTTCATTACAGCAACAAGGACACGCTGA
GAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAA
CAGATACTATAAGGAAATTCCGCTGTCAGAAATCCTCACGGTGGAGTCCGCCCAGAACTTCAGC
CTTGTGCCGCCGGGCACCAACCCACACTGCTTTGAGATCGTCACTGCCAATGCCACCTACTTCG
TGGGCGAGATGCCTGGCGGGACTCCGGGTGGGCCAAGTGGGCAGGGGGCTGAGGCCGCCCGGGG
CTGGGAGACAGCCATCCGCCAGGCCCTGATGCCCGTCATCCTTCAGGACGCACCCAGCGCCCCA
GGCCACGCGCCCCACAGACAAGCTTCTCTGAGCATCTCTGTGTCCAACAGTCAGATCCAAGAGA
ATGTGGACATTGCCACTGTCTACCAGATCTTCCCTGACGAAGTGCTGGGCTCAGGGCAGTTTGG
AGTGGTCTATGGAGGAAAACACCGGAAGACAGGCCGGGACGTGGCAGTTAAGGTCATTGACAAA
CTGCGCTTCCCTACCAAGCAGGAGAGCCAGCTCCGGAATGAAGTGGCCATTCTGCAGAGCCTGC
GGCATCCCGGGATCGTGAACCTGGAGTGCATGTTCGAGACGCCTGAGAAAGTGTTTGTGGTGAT
GGAGAAGCTGCATGGGGACATGTTGGAGATGATCCTGTCCAGTGAGAAGGGCCGGCTGCCTGAG
CGCCTCACCAAGTTCCTCATCACCCAGATCCTGGTGGCTTTGAGACACCTTCACTTCAAGAACA
TTGTCCACTGTGACTTGAAACCAGAAAACGTGTTGCTGGCATCAGCAGACCCATTTCCTCAGGT
GAAGCTGTGTGACTTTGGCTTTGCTCGCATCATCGGCGAGAAGTCGTTCCGCCGCTCAGTGGTG
GGCACGCCGGCCTACCTGGCACCCGAGGTGCTGCTCAACCAGGGCTACAACCGCTCGCTGGACA
TGTGGTCAGTGGGCGTGATCATGTACGTCAGCCTCAGCGGCACCTTCCCTTTCAACGAGGATGA
GGACATCAATGACCAGATCCAGAACGCCGCCTTCATGTACCCGGCCAGCCCCTGGAGCCACATC
TCAGCTGGAGCCATTGACCTCATCAACAACCTGCTGCAGGTGAAGATGCGCAAACGCTACAGCG
TGGACAAATCTCTCAGCCACCCCTGGTTACAGGAGTACCAGACGTGGCTGGACCTCCGAGAGCT
GGAGGGGAAGATGGGAGAGCGATACATCACGCATGAGAGTGACGACGCGCGCTGGGAGCAGTTT
GCAGCAGAGCATCCGCTGCCTGGGTCTGGGCTGCCCACGGACAGGGATCTCGGTGGGGCCTGTC
CACCACAGGACCACGACATGCAGGGGCTGGCGGAGCGCATCAGTGTTCTCTGAGGTCCTGTGCC
CTCGTCCAGCTGCTGCCCTCCACAGCGGTTCTTCACAGGATCCCAGCAATGAACTGTTCTAGGG
AAAGTGGCTTCCTGCCCAAACTGGATGGGACACGTGGGGAGTGGGGTGGGGGGAGCTATTTCCA
AGGCCCCTCCCTGTTTCCCCAGCAATTAAAACGGACTCATCTCTGGCCCCATGGCCTTGATCTC
AGCA

hide sequence

RefSeq Acc Id:

XM_005258716 ⟹ XP_005258773

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	46,674,316 - 46,717,114 (-)	NCBI

Sequence:

show sequence

TCCGGGGTCTCCTTTCACATCCAGATCGGGCTGACCCGCGAGTTCGTGCTGTTGCCCGCCGCCT
CCGAGCTGGCTCATGTGAAGCAGCTGGCCTGTTCCATCGTGGACCAGAAGCCTCGGCCACCTTC
GAGGACTTCCAGATCCGCCCGCACGCCCTCACGGTGCACTCCTATCGGGCGCCTGCCTTCTGTG
ATCACTGCGGGGAGATGCTCTTCGGCCTAGTGCGCCAGGGCCTCAAGTGCGATGGCTGCGGGCT
GAACTACCACAAGCGCTGTGCCTTCAGCATCCCCAACAACTGTAGTGGGGCCCGCAAACGGCGC
CTGTCATCCACGTCTCTGGCCAGTGGCCACTCGGTGCGCCTCGGCACCTCCGAGTCCCTGCCCT
GCACGGCTGAAGAGCTGAGCCGTAGCACCACCGAACTCCTGCCTCGCCGTCCCCCGTCATCCTC
TTCCTCCTCTTCTGCCTCATCGTATACGGGCCGCCCCATTGAGCTGGACAAGATGCTGCTCTCC
AAGGTCAAGGTGCCGCACACCTTCCTCATCCACAGCTATACACGGCCCACCGTTTGCCAGGCTT
GCAAGAAACTCCTCAAGGGCCTCTTCCGGCAGGGCCTGCAATGCAAAGACTGCAAGTTTAACTG
TCACAAACGCTGCGCCACCCGCGTCCCTAATGACTGCCTGGGGGAGGCCCTTATCAATGGAGAT
GTGCCGATGGAGGAGGCCACCGATTTCAGCGAGGCTGACAAGAGCGCCCTCATGGATGAGTCAG
AGGACTCCGGTGTCATCCCTGGCTCCCACTCAGAGAATGCGCTCCACGCCAGTGAGGAGGAGGA
AGGCGAGGGAGGCAAGGCCCAGAGCTCCCTGGGGTACATCCCCCTAATGAGGGTGGTGCAATCG
GTGCGACACACGACGCGGAAATCCAGCACCACGCTGCGGGAGGGTTGGGTGGTTCATTACAGCA
ACAAGGACACGCTGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCA
GAACAACACGACCAACAGATACTATAAGGAAATTCCGCTGTCAGAAATCCTCACGGTGGAGTCC
GCCCAGAACTTCAGCCTTGTGCCGCCGGGCACCAACCCACACTGCTTTGAGATCGTCACTGCCA
ATGCCACCTACTTCGTGGGCGAGATGCCTGGCGGGACTCCGGGTGGGCCAAGTGGGCAGGGGGC
TGAGGCCGCCCGGGGCTGGGAGACAGCCATCCGCCAGGCCCTGATGCCCGTCATCCTTCAGGAC
GCACCCAGCGCCCCAGGCCACGCGCCCCACAGACAAGCTTCTCTGAGCATCTCTGTGTCCAACA
GTCAGATCCAAGAGAATGTGGACATTGCCACTGTCTACCAGATCTTCCCTGACGAAGTGCTGGG
CTCAGGGCAGTTTGGAGTGGTCTATGGAGGAAAACACCGGAAGACAGGCCGGGACGTGGCAGTT
AAGGTCATTGACAAACTGCGCTTCCCTACCAAGCAGGAGAGCCAGCTCCGGAATGAAGTGGCCA
TTCTGCAGAGCCTGCGGCATCCCGGGATCGTGAACCTGGAGTGCATGTTCGAGACGCCTGAGAA
AGTGTTTGTGGTGATGGAGAAGCTGCATGGGGACATGTTGGAGATGATCCTGTCCAGTGAGAAG
GGCCGGCTGCCTGAGCGCCTCACCAAGTTCCTCATCACCCAGATCCTGGTGGCTTTGAGACACC
TTCACTTCAAGAACATTGTCCACTGTGACTTGAAACCAGAAAACGTGTTGCTGGCATCAGCAGA
CCCATTTCCTCAGGTGAAGCTGTGTGACTTTGGCTTTGCTCGCATCATCGGCGAGAAGTCGTTC
CGCCGCTCAGTGGTGGGCACGCCGGCCTACCTGGCACCCGAGGTGCTGCTCAACCAGGGCTACA
ACCGCTCGCTGGACATGTGGTCAGTGGGCGTGATCATGTACGTCAGCCTCAGCGGCACCTTCCC
TTTCAACGAGGATGAGGACATCAATGACCAGATCCAGAACGCCGCCTTCATGTACCCGGCCAGC
CCCTGGAGCCACATCTCAGCTGGAGCCATTGACCTCATCAACAACCTGCTGCAGGTGAAGATGC
GCAAACGCTACAGCGTGGACAAATCTCTCAGCCACCCCTGGTTACAGGAGTACCAGACGTGGCT
GGACCTCCGAGAGCTGGAGGGGAAGATGGGAGAGCGATACATCACGCATGAGAGTGACGACGCG
CGCTGGGAGCAGTTTGCAGCAGAGCATCCGCTGCCTGGGTCTGGGCTGCCCACGGACAGGGATC
TCGGTGGGGCCTGTCCACCACAGGACCACGACATGCAGGGGCTGGCGGAGCGCATCAGTGTTCT
CTGAGGTCCTGTGCCCTCGTCCAGCTGCTGCCCTCCACAGCGGTTCTTCACAGGATCCCAGCAA
TGAACTGTTCTAGGGAAAGTGGCTTCCTGCCCAAACTGGATGGGACACGTGGGGAGTGGGGTGG
GGGGAGCTATTTCCAAGGCCCCTCCCTGTTTCCCCAGCAATTAAAACGGACTCATCTCTGGCCC
CATGGCCTTGATCTCAGCA

hide sequence

RefSeq Acc Id:

XM_047438567 ⟹ XP_047294523

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	46,674,316 - 46,716,050 (-)	NCBI

RefSeq Acc Id:

XM_047438568 ⟹ XP_047294524

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	46,674,316 - 46,717,114 (-)	NCBI

RefSeq Acc Id:

XM_054320484 ⟹ XP_054176459

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	49,499,855 - 49,544,915 (-)	NCBI

RefSeq Acc Id:

XM_054320485 ⟹ XP_054176460

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	49,499,855 - 49,545,002 (-)	NCBI

RefSeq Acc Id:

XM_054320486 ⟹ XP_054176461

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	49,499,855 - 49,542,704 (-)	NCBI

RefSeq Acc Id:

XM_054320487 ⟹ XP_054176462

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	49,499,855 - 49,541,640 (-)	NCBI

RefSeq Acc Id:

XM_054320488 ⟹ XP_054176463

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	49,499,855 - 49,542,704 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001073349	(Get FASTA)	NCBI Sequence Viewer
	NP_001073350	(Get FASTA)	NCBI Sequence Viewer
	NP_001073351	(Get FASTA)	NCBI Sequence Viewer
	NP_057541	(Get FASTA)	NCBI Sequence Viewer
	XP_005258773	(Get FASTA)	NCBI Sequence Viewer
	XP_047294523	(Get FASTA)	NCBI Sequence Viewer
	XP_047294524	(Get FASTA)	NCBI Sequence Viewer
	XP_054176459	(Get FASTA)	NCBI Sequence Viewer
	XP_054176460	(Get FASTA)	NCBI Sequence Viewer
	XP_054176461	(Get FASTA)	NCBI Sequence Viewer
	XP_054176462	(Get FASTA)	NCBI Sequence Viewer
	XP_054176463	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF36107	(Get FASTA)	NCBI Sequence Viewer
	AAH15472	(Get FASTA)	NCBI Sequence Viewer
	AAK01149	(Get FASTA)	NCBI Sequence Viewer
	BAC11127	(Get FASTA)	NCBI Sequence Viewer
	BAC11508	(Get FASTA)	NCBI Sequence Viewer
	BAG53158	(Get FASTA)	NCBI Sequence Viewer
	BAG62084	(Get FASTA)	NCBI Sequence Viewer
	BAG64637	(Get FASTA)	NCBI Sequence Viewer
	CAB43292	(Get FASTA)	NCBI Sequence Viewer
	CAF86729	(Get FASTA)	NCBI Sequence Viewer
	EAW57441	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000291281
	ENSP00000291281.3
	ENSP00000393978
	ENSP00000393978.1
	ENSP00000469064.1
	ENSP00000469106.1
	ENSP00000470363.1
	ENSP00000470442.1
	ENSP00000470804
	ENSP00000470804.1
	ENSP00000470919.1
	ENSP00000472744
	ENSP00000472744.1
	ENSP00000472913.1
	ENSP00000472987.1
GenBank Protein	Q9BZL6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001073350 ⟸ NM_001079881
- Peptide Label:	isoform A
- UniProtKB:	Q9P0T6 (UniProtKB/Swiss-Prot), Q8TB08 (UniProtKB/Swiss-Prot), Q8NCK8 (UniProtKB/Swiss-Prot), M0R2R2 (UniProtKB/Swiss-Prot), M0QZW1 (UniProtKB/Swiss-Prot), B4DTS2 (UniProtKB/Swiss-Prot), Q9Y3X8 (UniProtKB/Swiss-Prot), Q9BZL6 (UniProtKB/Swiss-Prot), Q8N2H2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATAPSYPAGLPGSPGPGSPPPPGGLELQSPPPLLPQIPAPGSGVSFHIQIGLTREFVLLPAAS ELAHVKQLACSIVDQKFPECGFYGLYDKILLFKHDPTSANLLQLVRSSGDIQEGDLVEVVLSAS ATFEDFQIRPHALTVHSYRAPAFCDHCGEMLFGLVRQGLKCDGCGLNYHKRCAFSIPNNCSGAR KRRLSSTSLASGHSVRLGTSESLPCTAEELSRSTTELLPRRPPSSSSSSSASSYTGRPIELDKM LLSKVKVPHTFLIHSYTRPTVCQACKKLLKGLFRQGLQCKDCKFNCHKRCATRVPNDCLGEALI NGDVPMEEATDFSEADKSALMDESEDSGVIPGSHSENALHASEEEEGEGGKAQSSLGYIPLMRV VQSVRHTTRKSSTTLREGWVVHYSNKDTLRKRHYWRLDCKCITLFQNNTTNRYYKEIPLSEILT VESAQNFSLVPPGTNPHCFEIVTANATYFVGEMPGGTPGGPSGQGAEAARGWETAIRQALMPVI LQDAPSAPGHAPHRQASLSISVSNSQIQENVDIATVYQIFPDEVLGSGQFGVVYGGKHRKTGRD VAVKVIDKLRFPTKQESQLRNEVAILQSLRHPGIVNLECMFETPEKVFVVMEKLHGDMLEMILS SEKGRLPERLTKFLITQILVALRHLHFKNIVHCDLKPENVLLASADPFPQVKLCDFGFARIIGE KSFRRSVVGTPAYLAPEVLLNQGYNRSLDMWSVGVIMYVSLSGTFPFNEDEDINDQIQNAAFMY PASPWSHISAGAIDLINNLLQVKMRKRYSVDKSLSHPWLQEYQTWLDLRELEGKMGERYITHES DDARWEQFAAEHPLPGSGLPTDRDLGGACPPQDHDMQGLAERISVL hide sequence

RefSeq Acc Id:	NP_001073349 ⟸ NM_001079880
- Peptide Label:	isoform A
- UniProtKB:	Q9P0T6 (UniProtKB/Swiss-Prot), Q8TB08 (UniProtKB/Swiss-Prot), Q8NCK8 (UniProtKB/Swiss-Prot), M0R2R2 (UniProtKB/Swiss-Prot), M0QZW1 (UniProtKB/Swiss-Prot), B4DTS2 (UniProtKB/Swiss-Prot), Q9Y3X8 (UniProtKB/Swiss-Prot), Q9BZL6 (UniProtKB/Swiss-Prot), Q8N2H2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATAPSYPAGLPGSPGPGSPPPPGGLELQSPPPLLPQIPAPGSGVSFHIQIGLTREFVLLPAAS ELAHVKQLACSIVDQKFPECGFYGLYDKILLFKHDPTSANLLQLVRSSGDIQEGDLVEVVLSAS ATFEDFQIRPHALTVHSYRAPAFCDHCGEMLFGLVRQGLKCDGCGLNYHKRCAFSIPNNCSGAR KRRLSSTSLASGHSVRLGTSESLPCTAEELSRSTTELLPRRPPSSSSSSSASSYTGRPIELDKM LLSKVKVPHTFLIHSYTRPTVCQACKKLLKGLFRQGLQCKDCKFNCHKRCATRVPNDCLGEALI NGDVPMEEATDFSEADKSALMDESEDSGVIPGSHSENALHASEEEEGEGGKAQSSLGYIPLMRV VQSVRHTTRKSSTTLREGWVVHYSNKDTLRKRHYWRLDCKCITLFQNNTTNRYYKEIPLSEILT VESAQNFSLVPPGTNPHCFEIVTANATYFVGEMPGGTPGGPSGQGAEAARGWETAIRQALMPVI LQDAPSAPGHAPHRQASLSISVSNSQIQENVDIATVYQIFPDEVLGSGQFGVVYGGKHRKTGRD VAVKVIDKLRFPTKQESQLRNEVAILQSLRHPGIVNLECMFETPEKVFVVMEKLHGDMLEMILS SEKGRLPERLTKFLITQILVALRHLHFKNIVHCDLKPENVLLASADPFPQVKLCDFGFARIIGE KSFRRSVVGTPAYLAPEVLLNQGYNRSLDMWSVGVIMYVSLSGTFPFNEDEDINDQIQNAAFMY PASPWSHISAGAIDLINNLLQVKMRKRYSVDKSLSHPWLQEYQTWLDLRELEGKMGERYITHES DDARWEQFAAEHPLPGSGLPTDRDLGGACPPQDHDMQGLAERISVL hide sequence

RefSeq Acc Id:	NP_057541 ⟸ NM_016457
- Peptide Label:	isoform A
- UniProtKB:	Q9P0T6 (UniProtKB/Swiss-Prot), Q8TB08 (UniProtKB/Swiss-Prot), Q8NCK8 (UniProtKB/Swiss-Prot), M0R2R2 (UniProtKB/Swiss-Prot), M0QZW1 (UniProtKB/Swiss-Prot), B4DTS2 (UniProtKB/Swiss-Prot), Q9Y3X8 (UniProtKB/Swiss-Prot), Q9BZL6 (UniProtKB/Swiss-Prot), Q8N2H2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATAPSYPAGLPGSPGPGSPPPPGGLELQSPPPLLPQIPAPGSGVSFHIQIGLTREFVLLPAAS ELAHVKQLACSIVDQKFPECGFYGLYDKILLFKHDPTSANLLQLVRSSGDIQEGDLVEVVLSAS ATFEDFQIRPHALTVHSYRAPAFCDHCGEMLFGLVRQGLKCDGCGLNYHKRCAFSIPNNCSGAR KRRLSSTSLASGHSVRLGTSESLPCTAEELSRSTTELLPRRPPSSSSSSSASSYTGRPIELDKM LLSKVKVPHTFLIHSYTRPTVCQACKKLLKGLFRQGLQCKDCKFNCHKRCATRVPNDCLGEALI NGDVPMEEATDFSEADKSALMDESEDSGVIPGSHSENALHASEEEEGEGGKAQSSLGYIPLMRV VQSVRHTTRKSSTTLREGWVVHYSNKDTLRKRHYWRLDCKCITLFQNNTTNRYYKEIPLSEILT VESAQNFSLVPPGTNPHCFEIVTANATYFVGEMPGGTPGGPSGQGAEAARGWETAIRQALMPVI LQDAPSAPGHAPHRQASLSISVSNSQIQENVDIATVYQIFPDEVLGSGQFGVVYGGKHRKTGRD VAVKVIDKLRFPTKQESQLRNEVAILQSLRHPGIVNLECMFETPEKVFVVMEKLHGDMLEMILS SEKGRLPERLTKFLITQILVALRHLHFKNIVHCDLKPENVLLASADPFPQVKLCDFGFARIIGE KSFRRSVVGTPAYLAPEVLLNQGYNRSLDMWSVGVIMYVSLSGTFPFNEDEDINDQIQNAAFMY PASPWSHISAGAIDLINNLLQVKMRKRYSVDKSLSHPWLQEYQTWLDLRELEGKMGERYITHES DDARWEQFAAEHPLPGSGLPTDRDLGGACPPQDHDMQGLAERISVL hide sequence

RefSeq Acc Id:	NP_001073351 ⟸ NM_001079882
- Peptide Label:	isoform B
- UniProtKB:	Q8N2H2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLFGLVRQGLKCDGCGLNYHKRCAFSIPNNCSGARKRRLSSTSLASGHSVRLGTSESLPCTAEE LSRSTTELLPRRPPSSSSSSSASSYTGRPIELDKMLLSKVKVPHTFLIHSYTRPTVCQACKKLL KGLFRQGLQCKDCKFNCHKRCATRVPNDCLGEALINGDVPMEEATDFSEADKSALMDESEDSGV IPGSHSENALHASEEEEGEGGKAQSSLGYIPLMRVVQSVRHTTRKSSTTLREGWVVHYSNKDTL RKRHYWRLDCKCITLFQNNTTNRYYKEIPLSEILTVESAQNFSLVPPGTNPHCFEIVTANATYF VGEMPGGTPGGPSGQGAEAARGWETAIRQALMPVILQDAPSAPGHAPHRQASLSISVSNSQIQE NVDIATVYQIFPDEVLGSGQFGVVYGGKHRKTGRDVAVKVIDKLRFPTKQESQLRNEVAILQSL RHPGIVNLECMFETPEKVFVVMEKLHGDMLEMILSSEKGRLPERLTKFLITQILVALRHLHFKN IVHCDLKPENVLLASADPFPQVKLCDFGFARIIGEKSFRRSVVGTPAYLAPEVLLNQGYNRSLD MWSVGVIMYVSLSGTFPFNEDEDINDQIQNAAFMYPASPWSHISAGAIDLINNLLQVKMRKRYS VDKSLSHPWLQEYQTWLDLRELEGKMGERYITHESDDARWEQFAAEHPLPGSGLPTDRDLGGAC PPQDHDMQGLAERISVL hide sequence

RefSeq Acc Id:	XP_005258773 ⟸ XM_005258716
- Peptide Label:	isoform X1
- UniProtKB:	Q8N2H2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLFGLVRQGLKCDGCGLNYHKRCAFSIPNNCSGARKRRLSSTSLASGHSVRLGTSESLPCTAEE LSRSTTELLPRRPPSSSSSSSASSYTGRPIELDKMLLSKVKVPHTFLIHSYTRPTVCQACKKLL KGLFRQGLQCKDCKFNCHKRCATRVPNDCLGEALINGDVPMEEATDFSEADKSALMDESEDSGV IPGSHSENALHASEEEEGEGGKAQSSLGYIPLMRVVQSVRHTTRKSSTTLREGWVVHYSNKDTL RKRHYWRLDCKCITLFQNNTTNRYYKEIPLSEILTVESAQNFSLVPPGTNPHCFEIVTANATYF VGEMPGGTPGGPSGQGAEAARGWETAIRQALMPVILQDAPSAPGHAPHRQASLSISVSNSQIQE NVDIATVYQIFPDEVLGSGQFGVVYGGKHRKTGRDVAVKVIDKLRFPTKQESQLRNEVAILQSL RHPGIVNLECMFETPEKVFVVMEKLHGDMLEMILSSEKGRLPERLTKFLITQILVALRHLHFKN IVHCDLKPENVLLASADPFPQVKLCDFGFARIIGEKSFRRSVVGTPAYLAPEVLLNQGYNRSLD MWSVGVIMYVSLSGTFPFNEDEDINDQIQNAAFMYPASPWSHISAGAIDLINNLLQVKMRKRYS VDKSLSHPWLQEYQTWLDLRELEGKMGERYITHESDDARWEQFAAEHPLPGSGLPTDRDLGGAC PPQDHDMQGLAERISVL hide sequence

RefSeq Acc Id:

ENSP00000291281 ⟸ ENST00000291281

RefSeq Acc Id:

ENSP00000470363 ⟸ ENST00000595132

RefSeq Acc Id:

ENSP00000470804 ⟸ ENST00000595515

RefSeq Acc Id:

ENSP00000469064 ⟸ ENST00000597641

RefSeq Acc Id:

ENSP00000472913 ⟸ ENST00000597390

RefSeq Acc Id:

ENSP00000470919 ⟸ ENST00000598633

RefSeq Acc Id:

ENSP00000472744 ⟸ ENST00000600194

RefSeq Acc Id:

ENSP00000469106 ⟸ ENST00000601806

RefSeq Acc Id:

ENSP00000470442 ⟸ ENST00000601605

RefSeq Acc Id:

ENSP00000393978 ⟸ ENST00000433867

RefSeq Acc Id:

ENSP00000472987 ⟸ ENST00000593363

RefSeq Acc Id:	XP_047294524 ⟸ XM_047438568
- Peptide Label:	isoform X1
- UniProtKB:	Q8N2H2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047294523 ⟸ XM_047438567
- Peptide Label:	isoform X1
- UniProtKB:	Q8N2H2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054176460 ⟸ XM_054320485
- Peptide Label:	isoform X2
- UniProtKB:	Q9P0T6 (UniProtKB/Swiss-Prot), Q9BZL6 (UniProtKB/Swiss-Prot), Q8TB08 (UniProtKB/Swiss-Prot), Q8NCK8 (UniProtKB/Swiss-Prot), M0R2R2 (UniProtKB/Swiss-Prot), M0QZW1 (UniProtKB/Swiss-Prot), B4DTS2 (UniProtKB/Swiss-Prot), Q9Y3X8 (UniProtKB/Swiss-Prot), Q8N2H2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054176459 ⟸ XM_054320484
- Peptide Label:	isoform X2
- UniProtKB:	Q9P0T6 (UniProtKB/Swiss-Prot), Q9BZL6 (UniProtKB/Swiss-Prot), Q8TB08 (UniProtKB/Swiss-Prot), Q8NCK8 (UniProtKB/Swiss-Prot), M0R2R2 (UniProtKB/Swiss-Prot), M0QZW1 (UniProtKB/Swiss-Prot), B4DTS2 (UniProtKB/Swiss-Prot), Q9Y3X8 (UniProtKB/Swiss-Prot), Q8N2H2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054176461 ⟸ XM_054320486
- Peptide Label:	isoform X1
- UniProtKB:	Q8N2H2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054176463 ⟸ XM_054320488
- Peptide Label:	isoform X1
- UniProtKB:	Q8N2H2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054176462 ⟸ XM_054320487
- Peptide Label:	isoform X1
- UniProtKB:	Q8N2H2 (UniProtKB/TrEMBL)

Protein Domains

PH Phorbol-ester/DAG-type Protein kinase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BZL6-F1-model_v2	AlphaFold	Q9BZL6	1-878	view protein structure

Promoters

RGD ID:

12914181

Promoter ID:

EPDNEW_H26002

Type:

initiation region

Name:

PRKD2_1

Description:

protein kinase D2

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	46,716,676 - 46,716,736	EPDNEW

RGD ID:

6795939

Promoter ID:

HG_KWN:30353

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid, NB4

Transcripts:

UC002PFE.1, UC002PFF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	51,892,481 - 51,892,981 (-)	MPROMDB

RGD ID:

6795941

Promoter ID:

HG_KWN:30356

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid

Transcripts:

NM_001079882

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	51,909,106 - 51,909,772 (-)	MPROMDB

RGD ID:

6795940

Promoter ID:

HG_KWN:30357

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, K562, Lymphoblastoid, NB4

Transcripts:

NM_001079880, NM_001079881, NM_016457, UC002PFK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	51,911,271 - 51,912,882 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17293	AgrOrtholog
COSMIC	PRKD2	COSMIC
Ensembl Genes	ENSG00000105287	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000291281	ENTREZGENE
	ENST00000291281.9	UniProtKB/Swiss-Prot
	ENST00000433867	ENTREZGENE
	ENST00000433867.5	UniProtKB/Swiss-Prot
	ENST00000593363.1	UniProtKB/TrEMBL
	ENST00000595132.5	UniProtKB/TrEMBL
	ENST00000595515	ENTREZGENE
	ENST00000595515.5	UniProtKB/Swiss-Prot
	ENST00000597390.5	UniProtKB/TrEMBL
	ENST00000597641.1	UniProtKB/TrEMBL
	ENST00000598633.1	UniProtKB/TrEMBL
	ENST00000600194	ENTREZGENE
	ENST00000600194.5	UniProtKB/Swiss-Prot
	ENST00000601605.5	UniProtKB/TrEMBL
	ENST00000601806.5	UniProtKB/Swiss-Prot
Gene3D-CATH	2.30.29.30	UniProtKB/Swiss-Prot
	3.30.60.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB)	UniProtKB/TrEMBL
	Transferase(Phosphotransferase) domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000105287	GTEx
HGNC ID	HGNC:17293	ENTREZGENE
Human Proteome Map	PRKD2	Human Proteome Map
InterPro	C1-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DAG/PE-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kinase-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PE/DAG-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PH-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PH_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Prot_kinase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Protein_kinase_ATP_BS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Protein_Kinase_C_mu-related	UniProtKB/Swiss-Prot
	Ser/Thr_kinase_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:25865	UniProtKB/Swiss-Prot
NCBI Gene	25865	ENTREZGENE
OMIM	607074	OMIM
PANTHER	PTHR22968	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SERINE/THREONINE-PROTEIN KINASE D2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	C1_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PF00169	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Pkinase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134903505	PharmGKB
PIRSF	PKC_mu_nu_D2	UniProtKB/Swiss-Prot
PRINTS	DAGPEDOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	PH_DOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_ATP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_DOM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_ST	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_DAG_PE_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_DAG_PE_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	S_TKc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SM00109	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SM00233	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	PH domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF56112	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF57889	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0JLT6_HUMAN	UniProtKB/TrEMBL
	B4DTS2	ENTREZGENE
	KPCD2_HUMAN	UniProtKB/Swiss-Prot
	M0QXC6_HUMAN	UniProtKB/TrEMBL
	M0QZ82_HUMAN	UniProtKB/TrEMBL
	M0QZC2_HUMAN	UniProtKB/TrEMBL
	M0QZW1	ENTREZGENE
	M0R012_HUMAN	UniProtKB/TrEMBL
	M0R2R2	ENTREZGENE
	M0R2Z8_HUMAN	UniProtKB/TrEMBL
	M0R346_HUMAN	UniProtKB/TrEMBL
	Q8N2H2	ENTREZGENE, UniProtKB/TrEMBL
	Q8NCK8	ENTREZGENE
	Q8TB08	ENTREZGENE
	Q9BZL6	ENTREZGENE
	Q9P0T6	ENTREZGENE
	Q9Y3X8	ENTREZGENE
UniProt Secondary	B4DTS2	UniProtKB/Swiss-Prot
	M0QZW1	UniProtKB/Swiss-Prot
	M0R2R2	UniProtKB/Swiss-Prot
	Q8NCK8	UniProtKB/Swiss-Prot
	Q8TB08	UniProtKB/Swiss-Prot
	Q9P0T6	UniProtKB/Swiss-Prot
	Q9Y3X8	UniProtKB/Swiss-Prot

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)

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Imported Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD