PLPPR3 (phospholipid phosphatase related 3)

Gene: PLPPR3 (phospholipid phosphatase related 3) Homo sapiens

Analyze

Symbol:

PLPPR3

Name:

phospholipid phosphatase related 3

RGD ID:

1602461

HGNC Page

HGNC:23497

Description:

Predicted to enable phosphatidate phosphatase activity. Predicted to be involved in phospholipid dephosphorylation; phospholipid metabolic process; and signal transduction. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

inactive phospholipid phosphatase PLPPR3; lipid phosphate phosphatase-related protein type 3; LPPR3; LPR3; PAP-2-like protein 2; phospholipid phosphatase-related protein type 3; plasticity-related gene 2 protein; PRG-2; PRG2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	812,488 - 823,797 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	812,488 - 821,955 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	812,488 - 821,955 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	763,518 - 772,952 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	317 - 3,691 (+)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	581,917 - 590,577 (-)	NCBI		HuRef
CHM1_1	19	812,082 - 821,550 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	766,962 - 778,213 (-)	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

cerebral creatine deficiency syndrome (IAGP)

cyclic hematopoiesis (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

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

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

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

bisphenol F (ISO)

bromobenzene (ISO)

Butylbenzyl phthalate (ISO)

carbon nanotube (ISO)

cisplatin (EXP)

Cuprizon (ISO)

dibutyl phthalate (ISO)

diethyl phthalate (ISO)

diisobutyl phthalate (ISO)

diisononyl phthalate (ISO)

furan (ISO)

gentamycin (ISO)

glycidol (ISO)

Licochalcone B (EXP)

lipopolysaccharide (EXP)

N-methyl-4-phenylpyridinium (ISO)

paracetamol (ISO)

PCB138 (ISO)

propanal (EXP)

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

silicon dioxide (EXP)

sodium arsenite (ISO)

sunitinib (EXP)

thimerosal (EXP)

thioacetamide (ISO)

trichloroethene (ISO)

triclosan (EXP)

trovafloxacin (ISO)

valproic acid (EXP)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

phospholipid dephosphorylation (IBA)

phospholipid metabolic process (IBA,IEA)

signal transduction (IBA)

Cellular Component

membrane (IEA)

plasma membrane (IBA)

Molecular Function

phosphatidate phosphatase activity (IBA,IEA)

protein binding (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11230166	PMID:12477932	PMID:12730698	PMID:14702039	PMID:16169070	PMID:21873635	PMID:26186194	PMID:28298427	PMID:28514442	PMID:33961781	PMID:35063084

Genomics

Comparative Map Data

PLPPR3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	812,488 - 823,797 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	812,488 - 821,955 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	812,488 - 821,955 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	763,518 - 772,952 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	317 - 3,691 (+)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	581,917 - 590,577 (-)	NCBI		HuRef
CHM1_1	19	812,082 - 821,550 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	766,962 - 778,213 (-)	NCBI		T2T-CHM13v2.0

Plppr3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	79,696,309 - 79,710,948 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	79,696,309 - 79,710,468 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	79,860,475 - 79,874,958 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	79,860,475 - 79,874,634 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	79,323,220 - 79,337,379 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	79,267,910 - 79,277,763 (-)	NCBI		MGSCv36	mm8
Celera	10	80,875,288 - 80,889,447 (-)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	39.72	NCBI

Plppr3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	10,481,624 - 10,493,059 (+)	NCBI		GRCr8
mRatBN7.2	7	9,831,162 - 9,842,434 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	9,831,162 - 9,845,296 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	12,711,880 - 12,723,142 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	14,589,961 - 14,601,225 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	12,449,629 - 12,461,116 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	12,652,555 - 12,663,825 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	12,652,415 - 12,663,819 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	12,822,277 - 12,833,539 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	11,344,163 - 11,355,318 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	11,344,162 - 11,355,319 (+)	NCBI
Celera	7	8,005,921 - 8,017,136 (+)	NCBI		Celera
Cytogenetic Map	7	q11	NCBI

Plppr3
(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_004955495	6,980,549 - 6,994,046 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955495	6,980,213 - 6,990,331 (+)	NCBI	ChiLan1.0	ChiLan1.0

PLPPR3
(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	5,143,309 - 5,152,509 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	4,381,214 - 4,391,015 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	309,998 - 319,779 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	780,559 - 784,980 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

PLPPR3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	57,800,998 - 57,806,233 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	57,800,740 - 57,806,246 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	57,603,009 - 57,608,185 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	58,543,284 - 58,548,457 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	58,543,102 - 58,590,831 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	57,597,936 - 57,603,123 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	58,077,693 - 58,082,876 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	58,280,740 - 58,285,903 (+)	NCBI		UU_Cfam_GSD_1.0

Plppr3
(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_024405118	217,501,491 - 217,507,690 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	323,864 - 333,031 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	327,089 - 333,267 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PLPPR3
(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	77,538,969 - 77,551,785 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	77,538,925 - 77,552,046 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	78,292,948 - 78,360,010 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PLPPR3
(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	560,961 - 571,202 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	558,495 - 570,619 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666403	2,151 - 38,298 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Plppr3
(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_004624828	7,741,126 - 7,753,973 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	7,740,766 - 7,750,608 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PLPPR3
65 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-819679)x3	copy number gain	See cases [RCV000051144]	Chr19:259395..819679 [GRCh38] Chr19:259395..819679 [GRCh37] Chr19:210395..770679 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	copy number gain	See cases [RCV000051044]	Chr19:259395..2555149 [GRCh38] Chr19:259395..2555147 [GRCh37] Chr19:210395..2506147 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	copy number gain	See cases [RCV000052877]	Chr19:591812..1358152 [GRCh38] Chr19:591812..1358151 [GRCh37] Chr19:542812..1309151 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	copy number gain	See cases [RCV000052875]	Chr19:259395..1952650 [GRCh38] Chr19:259395..1952649 [GRCh37] Chr19:210395..1903649 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|See cases [RCV000052876]	Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	copy number gain	See cases [RCV000052575]	Chr19:233565..4699472 [GRCh38] Chr19:233565..4699484 [GRCh37] Chr19:184565..4650484 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:677680-899104)x3	copy number gain	See cases [RCV000054105]	Chr19:677680..899104 [GRCh38] Chr19:677680..899104 [GRCh37] Chr19:628680..850104 [NCBI36] Chr19:19p13.3	uncertain significance
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1	copy number loss	See cases [RCV000053910]	Chr19:259195..1351363 [GRCh38] Chr19:259195..1351362 [GRCh37] Chr19:210195..1302362 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]\|See cases [RCV000053911]	Chr19:266117..1076399 [GRCh38] Chr19:266117..1076398 [GRCh37] Chr19:217117..1027398 [NCBI36] Chr19:19p13.3	pathogenic
NM_002819.4(PTBP1):c.1416C>T (p.Phe472=)	single nucleotide variant	Malignant melanoma [RCV000063665]	Chr19:808715 [GRCh38] Chr19:808715 [GRCh37] Chr19:759715 [NCBI36] Chr19:19p13.3	not provided
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	copy number gain	See cases [RCV000134894]	Chr19:421537..2897921 [GRCh38] Chr19:421537..2897919 [GRCh37] Chr19:372537..2848919 [NCBI36] Chr19:19p13.3	likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	copy number gain	See cases [RCV000135433]	Chr19:259395..2068507 [GRCh38] Chr19:259395..2068506 [GRCh37] Chr19:210395..2019506 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	copy number loss	See cases [RCV000136733]	Chr19:786550..1297500 [GRCh38] Chr19:786550..1297499 [GRCh37] Chr19:737550..1248499 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	copy number gain	See cases [RCV000141358]	Chr19:275925..1892276 [GRCh38] Chr19:275925..1892275 [GRCh37] Chr19:226925..1843275 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	copy number gain	See cases [RCV000142627]	Chr19:259395..6795611 [GRCh38] Chr19:259395..6795622 [GRCh37] Chr19:210395..6746622 [NCBI36] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	copy number gain	See cases [RCV000239425]	Chr19:260912..1163934 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	copy number gain	See cases [RCV000240507]	Chr19:277373..2555164 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	copy number gain	See cases [RCV000511452]	Chr19:260911..1965786 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3	copy number gain	See cases [RCV000511102]	Chr19:415092..715725 [GRCh37] Chr19:19p13.3	likely benign
NM_001270366.2(PLPPR3):c.1394C>G (p.Pro465Arg)	single nucleotide variant	not specified [RCV004288711]	Chr19:813333 [GRCh38] Chr19:813333 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.350A>G (p.Asn117Ser)	single nucleotide variant	not specified [RCV004308316]	Chr19:815239 [GRCh38] Chr19:815239 [GRCh37] Chr19:19p13.3	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(chr19:266117-1094614)x3	copy number gain	not provided [RCV000513059]	Chr19:266117..1094614 [GRCh37] Chr19:19p13.3	likely pathogenic
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
GRCh37/hg19 19p13.3(chr19:259395-3152419)	copy number gain	Global developmental delay [RCV000626520]	Chr19:259395..3152419 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	copy number gain	not provided [RCV000684086]	Chr19:715724..1438636 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	copy number gain	not provided [RCV000684094]	Chr19:260911..3200875 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:789890-859214)x3	copy number gain	not provided [RCV000739945]	Chr19:789890..859214 [GRCh37] Chr19:19p13.3	benign
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
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(chr19:423160-1429367)x3	copy number gain	not provided [RCV000752449]	Chr19:423160..1429367 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:789890-880080)x3	copy number gain	not provided [RCV000752464]	Chr19:789890..880080 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:789890-941603)x3	copy number gain	not provided [RCV000752465]	Chr19:789890..941603 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:801381-847944)x3	copy number gain	not provided [RCV000752466]	Chr19:801381..847944 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:801381-945710)x3	copy number gain	not provided [RCV000752467]	Chr19:801381..945710 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:801381-1008645)x3	copy number gain	not provided [RCV000752468]	Chr19:801381..1008645 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:804080-879947)x3	copy number gain	not provided [RCV000752469]	Chr19:804080..879947 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:804908-931523)x3	copy number gain	not provided [RCV000752470]	Chr19:804908..931523 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:804908-1008216)x3	copy number gain	not provided [RCV000752471]	Chr19:804908..1008216 [GRCh37] Chr19:19p13.3	benign
NM_001270366.2(PLPPR3):c.1673C>T (p.Ser558Leu)	single nucleotide variant	not specified [RCV004284117]	Chr19:813054 [GRCh38] Chr19:813054 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	copy number gain	not provided [RCV000846988]	Chr19:260911..4788357 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup	duplication	Cerebral creatine deficiency syndrome [RCV001032652]	Chr19:589926..1401495 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	copy number gain	not provided [RCV001007025]	Chr19:260911..3501271 [GRCh37] Chr19:19p13.3	pathogenic
NM_001270366.2(PLPPR3):c.70G>C (p.Val24Leu)	single nucleotide variant	not specified [RCV004299451]	Chr19:821490 [GRCh38] Chr19:821490 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.280A>T (p.Met94Leu)	single nucleotide variant	not specified [RCV004326507]	Chr19:815309 [GRCh38] Chr19:815309 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1085G>A (p.Arg362His)	single nucleotide variant	not specified [RCV004301914]	Chr19:813642 [GRCh38] Chr19:813642 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup	duplication	not provided [RCV003105391]	Chr19:589946..4818389 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup	duplication	Cyclical neutropenia [RCV003107569]	Chr19:589946..2151333 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	copy number gain	See cases [RCV001007443]	Chr19:260912..4384674 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	copy number gain	See cases [RCV002285065]	Chr19:260911..2256387 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup	duplication	Cerebral creatine deficiency syndrome [RCV001307813]	Chr19:589926..1401495 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup	duplication	not provided [RCV001940167]	Chr19:589946..1650247 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(1106571_?)del	deletion	Cyclical neutropenia [RCV001916881]\|not provided [RCV001923747]	Chr19:589946..1106571 [GRCh37] Chr19:19p13.3	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1319319)	copy number loss	Peutz-Jeghers syndrome [RCV002280635]	Chr19:260911..1319319 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_589946)_(5696788_?)dup	duplication	not provided [RCV003113597]	Chr19:589946..5696788 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1597C>T (p.Pro533Ser)	single nucleotide variant	not specified [RCV004322915]	Chr19:813130 [GRCh38] Chr19:813130 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.2005C>T (p.Pro669Ser)	single nucleotide variant	not specified [RCV004311425]	Chr19:812722 [GRCh38] Chr19:812722 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1904C>G (p.Pro635Arg)	single nucleotide variant	not specified [RCV004320795]	Chr19:812823 [GRCh38] Chr19:812823 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.658-41C>T	single nucleotide variant	not specified [RCV004241943]	Chr19:814648 [GRCh38] Chr19:814648 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1022G>C (p.Arg341Pro)	single nucleotide variant	not specified [RCV004099122]	Chr19:813705 [GRCh38] Chr19:813705 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1516G>A (p.Gly506Ser)	single nucleotide variant	not specified [RCV004123911]	Chr19:813211 [GRCh38] Chr19:813211 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.2036C>T (p.Pro679Leu)	single nucleotide variant	not specified [RCV004223574]	Chr19:812691 [GRCh38] Chr19:812691 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.812C>T (p.Ala271Val)	single nucleotide variant	not specified [RCV004191475]	Chr19:814453 [GRCh38] Chr19:814453 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.866C>T (p.Pro289Leu)	single nucleotide variant	not specified [RCV004076251]	Chr19:813861 [GRCh38] Chr19:813861 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.950A>G (p.Gln317Arg)	single nucleotide variant	not specified [RCV004224289]	Chr19:813777 [GRCh38] Chr19:813777 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.355G>A (p.Gly119Ser)	single nucleotide variant	not specified [RCV004175124]	Chr19:815234 [GRCh38] Chr19:815234 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.718G>A (p.Ala240Thr)	single nucleotide variant	not specified [RCV004223611]	Chr19:814547 [GRCh38] Chr19:814547 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1907G>C (p.Gly636Ala)	single nucleotide variant	not specified [RCV004235334]	Chr19:812820 [GRCh38] Chr19:812820 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1426C>A (p.Pro476Thr)	single nucleotide variant	not specified [RCV004138664]	Chr19:813301 [GRCh38] Chr19:813301 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1442G>T (p.Arg481Leu)	single nucleotide variant	not specified [RCV004090688]	Chr19:813285 [GRCh38] Chr19:813285 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1781A>G (p.His594Arg)	single nucleotide variant	not specified [RCV004218768]	Chr19:812946 [GRCh38] Chr19:812946 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.657+8C>T	single nucleotide variant	not specified [RCV004107141]	Chr19:814684 [GRCh38] Chr19:814684 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1472C>T (p.Pro491Leu)	single nucleotide variant	not specified [RCV004238157]	Chr19:813255 [GRCh38] Chr19:813255 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.478C>T (p.Pro160Ser)	single nucleotide variant	not specified [RCV004169733]	Chr19:815007 [GRCh38] Chr19:815007 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1391C>T (p.Ala464Val)	single nucleotide variant	not specified [RCV004116463]	Chr19:813336 [GRCh38] Chr19:813336 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.383G>A (p.Arg128Gln)	single nucleotide variant	not specified [RCV004117363]	Chr19:815206 [GRCh38] Chr19:815206 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1403T>G (p.Leu468Arg)	single nucleotide variant	not specified [RCV004211408]	Chr19:813324 [GRCh38] Chr19:813324 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1809G>C (p.Glu603Asp)	single nucleotide variant	not specified [RCV004157626]	Chr19:812918 [GRCh38] Chr19:812918 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1715C>T (p.Pro572Leu)	single nucleotide variant	not specified [RCV004148410]	Chr19:813012 [GRCh38] Chr19:813012 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1132C>T (p.Pro378Ser)	single nucleotide variant	not specified [RCV004106029]	Chr19:813595 [GRCh38] Chr19:813595 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.32C>G (p.Pro11Arg)	single nucleotide variant	not specified [RCV004241001]	Chr19:821528 [GRCh38] Chr19:821528 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.953A>G (p.Asn318Ser)	single nucleotide variant	not specified [RCV004224701]	Chr19:813774 [GRCh38] Chr19:813774 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.2132T>A (p.Met711Lys)	single nucleotide variant	not specified [RCV004165391]	Chr19:812595 [GRCh38] Chr19:812595 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.2002C>G (p.Pro668Ala)	single nucleotide variant	not specified [RCV004241000]	Chr19:812725 [GRCh38] Chr19:812725 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.865C>G (p.Pro289Ala)	single nucleotide variant	not specified [RCV004090472]	Chr19:813862 [GRCh38] Chr19:813862 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.643G>A (p.Ala215Thr)	single nucleotide variant	not specified [RCV004133884]	Chr19:814706 [GRCh38] Chr19:814706 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.37G>C (p.Asp13His)	single nucleotide variant	not specified [RCV004095466]	Chr19:821523 [GRCh38] Chr19:821523 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1756C>T (p.His586Tyr)	single nucleotide variant	not specified [RCV004138555]	Chr19:812971 [GRCh38] Chr19:812971 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1345G>A (p.Glu449Lys)	single nucleotide variant	not specified [RCV004231575]	Chr19:813382 [GRCh38] Chr19:813382 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.127G>A (p.Asp43Asn)	single nucleotide variant	not specified [RCV004207857]	Chr19:815800 [GRCh38] Chr19:815800 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.725C>T (p.Ala242Val)	single nucleotide variant	not specified [RCV004187441]	Chr19:814540 [GRCh38] Chr19:814540 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1009C>T (p.Arg337Trp)	single nucleotide variant	not specified [RCV004150786]	Chr19:813718 [GRCh38] Chr19:813718 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.657+31G>A	single nucleotide variant	not specified [RCV004078910]	Chr19:814661 [GRCh38] Chr19:814661 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.340G>A (p.Gly114Ser)	single nucleotide variant	not specified [RCV004164951]	Chr19:815249 [GRCh38] Chr19:815249 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.95C>T (p.Ser32Phe)	single nucleotide variant	not specified [RCV004174072]	Chr19:815832 [GRCh38] Chr19:815832 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.524C>T (p.Thr175Met)	single nucleotide variant	not specified [RCV004133608]	Chr19:814961 [GRCh38] Chr19:814961 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1012C>T (p.Pro338Ser)	single nucleotide variant	not specified [RCV004303218]	Chr19:813715 [GRCh38] Chr19:813715 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.542C>T (p.Pro181Leu)	single nucleotide variant	not specified [RCV004269505]	Chr19:814943 [GRCh38] Chr19:814943 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1040G>A (p.Gly347Asp)	single nucleotide variant	not specified [RCV004275601]	Chr19:813687 [GRCh38] Chr19:813687 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.895G>A (p.Ala299Thr)	single nucleotide variant	not specified [RCV004310728]	Chr19:813832 [GRCh38] Chr19:813832 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1744A>G (p.Thr582Ala)	single nucleotide variant	not specified [RCV004297262]	Chr19:812983 [GRCh38] Chr19:812983 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1180A>G (p.Thr394Ala)	single nucleotide variant	not specified [RCV004256623]	Chr19:813547 [GRCh38] Chr19:813547 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.2078T>C (p.Leu693Pro)	single nucleotide variant	not specified [RCV004296919]	Chr19:812649 [GRCh38] Chr19:812649 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.256G>A (p.Ala86Thr)	single nucleotide variant	not specified [RCV004343605]	Chr19:815671 [GRCh38] Chr19:815671 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1026G>C (p.Glu342Asp)	single nucleotide variant	not specified [RCV004343376]	Chr19:813701 [GRCh38] Chr19:813701 [GRCh37] Chr19:19p13.3	likely benign
NM_001270366.2(PLPPR3):c.658-29C>T	single nucleotide variant	not specified [RCV004365552]	Chr19:814636 [GRCh38] Chr19:814636 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.2015C>T (p.Ala672Val)	single nucleotide variant	not specified [RCV004352772]	Chr19:812712 [GRCh38] Chr19:812712 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.933C>G (p.His311Gln)	single nucleotide variant	not specified [RCV004345957]	Chr19:813794 [GRCh38] Chr19:813794 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	copy number gain	not provided [RCV003485190]	Chr19:260912..7246777 [GRCh37] Chr19:19p13.3-13.2	pathogenic
NM_001270366.2(PLPPR3):c.18G>A (p.Glu6=)	single nucleotide variant	not provided [RCV003421692]	Chr19:821542 [GRCh38] Chr19:821542 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	copy number loss	not specified [RCV003986113]	Chr19:260911..1210337 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	copy number gain	not specified [RCV003986107]	Chr19:352288..1186507 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.778C>T (p.Pro260Ser)	single nucleotide variant	not specified [RCV004506762]	Chr19:814487 [GRCh38] Chr19:814487 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.568G>A (p.Gly190Ser)	single nucleotide variant	not specified [RCV004506761]	Chr19:814917 [GRCh38] Chr19:814917 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.464C>T (p.Thr155Met)	single nucleotide variant	not specified [RCV004506760]	Chr19:815021 [GRCh38] Chr19:815021 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.394C>T (p.Arg132Trp)	single nucleotide variant	not specified [RCV004506759]	Chr19:815195 [GRCh38] Chr19:815195 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1880G>A (p.Gly627Asp)	single nucleotide variant	not specified [RCV004506750]	Chr19:812847 [GRCh38] Chr19:812847 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1700C>T (p.Ser567Leu)	single nucleotide variant	not specified [RCV004506749]	Chr19:813027 [GRCh38] Chr19:813027 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1492G>A (p.Glu498Lys)	single nucleotide variant	not specified [RCV004506748]	Chr19:813235 [GRCh38] Chr19:813235 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1341G>C (p.Glu447Asp)	single nucleotide variant	not specified [RCV004506747]	Chr19:813386 [GRCh38] Chr19:813386 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1226G>A (p.Ser409Asn)	single nucleotide variant	not specified [RCV004506746]	Chr19:813501 [GRCh38] Chr19:813501 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1021C>T (p.Arg341Cys)	single nucleotide variant	not specified [RCV004506745]	Chr19:813706 [GRCh38] Chr19:813706 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.934G>A (p.Asp312Asn)	single nucleotide variant	not specified [RCV004506744]	Chr19:813793 [GRCh38] Chr19:813793 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.31C>G (p.Pro11Ala)	single nucleotide variant	not specified [RCV004506757]	Chr19:821529 [GRCh38] Chr19:821529 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.2138C>T (p.Ala713Val)	single nucleotide variant	not specified [RCV004506756]	Chr19:812589 [GRCh38] Chr19:812589 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.2045G>C (p.Arg682Pro)	single nucleotide variant	not specified [RCV004506755]	Chr19:812682 [GRCh38] Chr19:812682 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.2027C>A (p.Ala676Glu)	single nucleotide variant	not specified [RCV004506754]	Chr19:812700 [GRCh38] Chr19:812700 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1988C>T (p.Thr663Met)	single nucleotide variant	not specified [RCV004506753]	Chr19:812739 [GRCh38] Chr19:812739 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1987A>G (p.Thr663Ala)	single nucleotide variant	not specified [RCV004506752]	Chr19:812740 [GRCh38] Chr19:812740 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001270366.2(PLPPR3):c.1948G>C (p.Glu650Gln)	single nucleotide variant	not specified [RCV004506751]	Chr19:812779 [GRCh38] Chr19:812779 [GRCh37] Chr19:19p13.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1809
Count of miRNA genes:	755
Interacting mature miRNAs:	897
Transcripts:	ENST00000359894, ENST00000517665, ENST00000519502, ENST00000520876
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

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

High

Medium

184

1511

Low

300

167

389

1046

626

686

Below cutoff

2147

2348

1292

392

1099

249

3618

1848

1123

177

671

760

149

1114

2402

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001270366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024888	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528317	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC004799	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC006273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC112703	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF357888	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF541282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK021597	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY304517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY436785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017295	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000359894 ⟹ ENSP00000352962

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	812,488 - 821,952 (-)	Ensembl

RefSeq Acc Id:

ENST00000517665 ⟹ ENSP00000430544

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	812,490 - 821,942 (-)	Ensembl

RefSeq Acc Id:

ENST00000519502 ⟹ ENSP00000466122

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	812,488 - 821,955 (-)	Ensembl

RefSeq Acc Id:

ENST00000520876 ⟹ ENSP00000430297

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	812,488 - 821,955 (-)	Ensembl

RefSeq Acc Id:

NM_001270366 ⟹ NP_001257295

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	812,488 - 821,955 (-)	NCBI
GRCh37	19	812,488 - 821,952 (-)	NCBI
HuRef	19	581,917 - 590,577 (-)	NCBI
CHM1_1	19	812,082 - 821,550 (-)	NCBI
T2T-CHM13v2.0	19	766,962 - 776,362 (-)	NCBI

Sequence:

show sequence

ACGGAGGAGACGCGCTTTGTGCTGGGCGCCGGCCGCGCCAGCCACGGCCTGCGGCGCCCGCGGC
ACCATGATCTCCACCAAGGAGAAGAACAAGATCCCGAAGGACAGCATGACGCTTCTGCCCTGCT
TCTACTTCGTGGAGCTGCCCATAGTGGCTTCTTCCATCGTATCCTTGTACTTCCTGGAGCTGAC
CGACCTCTTCAAGCCGGCCAAGGTGGGCTTCCAGTGCTATGACCGCACTCTCTCCATGCCCTAC
GTGGAGACCAACGAGGAGCTCATCCCGCTGCTGATGCTGCTCAGCTTGGCCTTCGCGGCCCCTG
CCGCCTCGATCATGGTGGCCGAGGGCATGTTGTACTGTCTGCAGTCCCGGCTGTGGGGCCGTGC
CGGGGGGCCCGCCGGGGCGGAGGGCAGCATCAACGCCGGCGGCTGCAACTTCAACTCCTTCCTG
CGGCGTACGGTGCGGTTTGTGGGTGTCCACGTGTTCGGCCTGTGTGCCACAGCCCTGGTGACGG
ACGTGATCCAGCTGGCCACGGGTTACCACACTCCCTTCTTCCTCACCGTCTGCAAGCCCAACTA
CACTCTCCTGGGCACGTCCTGCGAGGTCAACCCCTACATCACGCAGGACATCTGCTCCGGCCAC
GACATCCACGCCATCCTGTCTGCACGGAAGACCTTCCCGTCCCAGCACGCCACGCTGTCAGCCT
TCGCCGCGGTCTATGTGTCGATGTACTTCAACTCGGTCATCTCGGACACCACCAAGCTGCTGAA
GCCCATCCTGGTCTTCGCCTTTGCCATCGCCGCGGGCGTATGCGGGCTCACGCAGATCACGCAG
TACCGCAGCCACCCTGTGGACGTGTATGCCGGCTTCCTCATCGGGGCGGGCATCGCTGCCTACC
TGGCCTGCCACGCGGTGGGCAACTTCCAGGCCCCACCTGCAGAGAAGCCCGCGGCCCCGGCCCC
CGCCAAGGACGCGCTGCGGGCCCTGACGCAGCGGGGCCACGACTCGGTTTATCAGCAGAATAAG
TCGGTGAGCACCGACGAGCTGGGGCCCCCAGGGCGGCTGGAGGGCGCGCCCCGGCCCGTGGCCC
GCGAGAAGACCTCGCTGGGCAGCCTGAAGCGCGCCAGCGTGGACGTGGACCTGCTGGCCCCGCG
CAGCCCCATGGCCAAGGAGAACATGGTGACCTTCAGCCACACGCTGCCCAGGGCCAGCGCGCCC
TCGCTGGACGACCCCGCGCGCCGCCACATGACCATCCACGTGCCGCTGGACGCCTCGCGCTCCA
AGCAGCTCATCAGCGAGTGGAAGCAGAAGAGCCTGGAGGGCCGCGGCCTGGGGCTGCCCGACGA
CGCCAGCCCCGGGCACCTGCGCGCGCCCGCCGAACCCATGGCGGAGGAGGAGGAAGAGGAGGAG
GACGAAGAGGAAGAGGAGGAGGAGGAAGAGGAGGAGGACGAGGGCCCGGCCCCGCCCTCGCTCT
ACCCCACCGTGCAGGCGCGGCCGGGGCTGGGGCCTCGGGTCATCCTCCCACCGCGCGCGGGGCC
GCCGCCGCTGGTGCACATCCCGGAGGAGGGCGCGCAGACGGGGGCCGGCCTGTCCCCCAAAAGC
GGCGCCGGGGTGCGCGCCAAGTGGCTCATGATGGCCGAGAAGAGCGGGGCGGCAGTGGCCAACC
CTCCGCGGCTGCTGCAGGTCATCGCCATGTCCAAGGCTCCGGGCGCGCCGGGCCCCAAGGCGGC
CGAGACGGCGTCGTCGTCCAGCGCCAGCTCCGACTCCTCGCAGTACCGGTCGCCGTCGGACCGC
GACTCCGCCAGCATCGTGACCATCGACGCGCACGCGCCGCACCACCCCGTGGTGCACCTGTCGG
CCGGCGGCGCGCCCTGGGAGTGGAAGGCGGCGGGCGGCGGGGCCAAGGCGGAGGCCGACGGCGG
CTACGAGCTGGGGGACCTGGCGCGCGGCTTCCGCGGCGGGGCCAAGCCCCCGGGCGTGTCCCCC
GGCTCGTCGGTCAGCGACGTGGACCAGGAGGAGCCGCGGTTCGGGGCCGTGGCCACCGTCAACC
TGGCCACGGGCGAGGGGCTGCCCCCGCTGGGCGCGGCCGATGGGGCGCTGGGCCCGGGCAGCCG
GGAGTCCACGCTGCGGCGCCACGCGGGCGGCCTGGGGCTGGCGGAGCGCGAGGCGGAGGCGGAG
GCCGAGGGCTACTTCCGCAAGATGCAGGCGCGCCGCTTCCCCGACTAGCGCGGCGGGGCCGGGG
GCGGGCGGGGGGCGGGCCGAGGGCGCGGGCGGCCGCGCGGATGCTCAATAAAGCGGCAGAAACC
GA

hide sequence

RefSeq Acc Id:

NM_024888 ⟹ NP_079164

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	812,488 - 821,955 (-)	NCBI
GRCh37	19	812,488 - 821,952 (-)	NCBI
Build 36	19	763,518 - 772,952 (-)	NCBI Archive
Celera	19	317 - 3,691 (+)	RGD
HuRef	19	581,917 - 590,577 (-)	NCBI
CHM1_1	19	812,082 - 821,550 (-)	NCBI
T2T-CHM13v2.0	19	766,962 - 776,362 (-)	NCBI

Sequence:

show sequence

ACGGAGGAGACGCGCTTTGTGCTGGGCGCCGGCCGCGCCAGCCACGGCCTGCGGCGCCCGCGGC
ACCATGATCTCCACCAAGGAGAAGAACAAGATCCCGAAGGACAGCATGACGCTTCTGCCCTGCT
TCTACTTCGTGGAGCTGCCCATAGTGGCTTCTTCCATCGTATCCTTGTACTTCCTGGAGCTGAC
CGACCTCTTCAAGCCGGCCAAGGTGGGCTTCCAGTGCTATGACCGCACTCTCTCCATGCCCTAC
GTGGAGACCAACGAGGAGCTCATCCCGCTGCTGATGCTGCTCAGCTTGGCCTTCGCGGCCCCTG
CCGCCTCGATCATGGTGGCCGAGGGCATGTTGTACTGTCTGCAGTCCCGGCTGTGGGGCCGTGC
CGGGGGGCCCGCCGGGGCGGAGGGCAGCATCAACGCCGGCGGCTGCAACTTCAACTCCTTCCTG
CGGCGTACGGTGCGGTTTGTGGGTGTCCACGTGTTCGGCCTGTGTGCCACAGCCCTGGTGACGG
ACGTGATCCAGCTGGCCACGGGTTACCACACTCCCTTCTTCCTCACCGTCTGCAAGCCCAACTA
CACTCTCCTGGGCACGTCCTGCGAGGTCAACCCCTACATCACGCAGGACATCTGCTCCGGCCAC
GACATCCACGCCATCCTGTCTGCACGGAAGACCTTCCCGTCCCAGCACGCCACGCTGTCAGCCT
TCGCCGCGGTCTATGTGTCGGTGAGTCCGGCCCCTCACTGCCCTTCCCAGGCCCTCTTGCTGAC
CCGTGGGGAGCCCTCCCTGACCCCAACCCCCATGCCCCAGATGTACTTCAACTCGGTCATCTCG
GACACCACCAAGCTGCTGAAGCCCATCCTGGTCTTCGCCTTTGCCATCGCCGCGGGCGTATGCG
GGCTCACGCAGATCACGCAGTACCGCAGCCACCCTGTGGACGTGTATGCCGGCTTCCTCATCGG
GGCGGGCATCGCTGCCTACCTGGCCTGCCACGCGGTGGGCAACTTCCAGGCCCCACCTGCAGAG
AAGCCCGCGGCCCCGGCCCCCGCCAAGGACGCGCTGCGGGCCCTGACGCAGCGGGGCCACGACT
CGGTTTATCAGCAGAATAAGTCGGTGAGCACCGACGAGCTGGGGCCCCCAGGGCGGCTGGAGGG
CGCGCCCCGGCCCGTGGCCCGCGAGAAGACCTCGCTGGGCAGCCTGAAGCGCGCCAGCGTGGAC
GTGGACCTGCTGGCCCCGCGCAGCCCCATGGCCAAGGAGAACATGGTGACCTTCAGCCACACGC
TGCCCAGGGCCAGCGCGCCCTCGCTGGACGACCCCGCGCGCCGCCACATGACCATCCACGTGCC
GCTGGACGCCTCGCGCTCCAAGCAGCTCATCAGCGAGTGGAAGCAGAAGAGCCTGGAGGGCCGC
GGCCTGGGGCTGCCCGACGACGCCAGCCCCGGGCACCTGCGCGCGCCCGCCGAACCCATGGCGG
AGGAGGAGGAAGAGGAGGAGGACGAAGAGGAAGAGGAGGAGGAGGAAGAGGAGGAGGACGAGGG
CCCGGCCCCGCCCTCGCTCTACCCCACCGTGCAGGCGCGGCCGGGGCTGGGGCCTCGGGTCATC
CTCCCACCGCGCGCGGGGCCGCCGCCGCTGGTGCACATCCCGGAGGAGGGCGCGCAGACGGGGG
CCGGCCTGTCCCCCAAAAGCGGCGCCGGGGTGCGCGCCAAGTGGCTCATGATGGCCGAGAAGAG
CGGGGCGGCAGTGGCCAACCCTCCGCGGCTGCTGCAGGTCATCGCCATGTCCAAGGCTCCGGGC
GCGCCGGGCCCCAAGGCGGCCGAGACGGCGTCGTCGTCCAGCGCCAGCTCCGACTCCTCGCAGT
ACCGGTCGCCGTCGGACCGCGACTCCGCCAGCATCGTGACCATCGACGCGCACGCGCCGCACCA
CCCCGTGGTGCACCTGTCGGCCGGCGGCGCGCCCTGGGAGTGGAAGGCGGCGGGCGGCGGGGCC
AAGGCGGAGGCCGACGGCGGCTACGAGCTGGGGGACCTGGCGCGCGGCTTCCGCGGCGGGGCCA
AGCCCCCGGGCGTGTCCCCCGGCTCGTCGGTCAGCGACGTGGACCAGGAGGAGCCGCGGTTCGG
GGCCGTGGCCACCGTCAACCTGGCCACGGGCGAGGGGCTGCCCCCGCTGGGCGCGGCCGATGGG
GCGCTGGGCCCGGGCAGCCGGGAGTCCACGCTGCGGCGCCACGCGGGCGGCCTGGGGCTGGCGG
AGCGCGAGGCGGAGGCGGAGGCCGAGGGCTACTTCCGCAAGATGCAGGCGCGCCGCTTCCCCGA
CTAGCGCGGCGGGGCCGGGGGCGGGCGGGGGGCGGGCCGAGGGCGCGGGCGGCCGCGCGGATGC
TCAATAAAGCGGCAGAAACCGA

hide sequence

RefSeq Acc Id:

XM_011528317 ⟹ XP_011526619

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	812,488 - 823,797 (-)	NCBI

Sequence:

show sequence

GCAAGAGTCCATCTCAAAATAATAGTAATAATAATAATAATCATTTTTAAATAAAAGTTTTGAG
CAGCGTCTGGTACGCTCAACCCCTCCGGCCTGCTCGGAACTCTCCCATCACTCAAGCCCAGGCC
CCACACTCAAGCCCAGGCCCCTCAGCCAAGCAACGTGCCCTCCATGGCCAGGCCTGCCCCATCT
CCACCACTGGTGATCCTAGGGGGAGAAGACCCTGAGACTCCCCCAGATCTTCTGTTGGACCCCC
AAGCTGCCAGGAGGGTCCCCCTGCACACTCTCCCACTCCTGACCTCAGAAGGCTCCTGAAAATC
AATTGCATTTTCCTCCTCCTCCCCCAGAGAGCTGTTTGTGGTCACCTTGCAACACCCAGATTCC
CAACGGCCACTCTGGCCCCGCCTCTCACAGGCCAGGAAAACAGCCGCAGCCACAGCAGGCAACG
TCCCCCTTCTCCAGGGCTGTTGGGGAGGAACAGGATCGCATCGAATGGGACCCACCTGTGACCA
ACTGCTCACAGGGCCTCCCCGAGCCCCCCTGCAGGAACCGGGGGGCCAAAGACCCCTCCCCAGG
CAGTCCGTGCAGTCCTGTCCCAGGAAGCTGGGCTGCCTCCGAGTCCATCCAAAGCCACGGCCTG
CGGCGCCCGCGGCACCATGATCTCCACCAAGGAGAAGAACAAGATCCCGAAGGACAGCATGACG
CTTCTGCCCTGCTTCTACTTCGTGGAGCTGCCCATAGTGGCTTCTTCCATCGTATCCTTGTACT
TCCTGGAGCTGACCGACCTCTTCAAGCCGGCCAAGGTGGGCTTCCAGTGCTATGACCGCACTCT
CTCCATGCCCTACGTGGAGACCAACGAGGAGCTCATCCCGCTGCTGATGCTGCTCAGCTTGGCC
TTCGCGGCCCCTGCCGCCTCGATCATGGTGGCCGAGGGCATGTTGTACTGTCTGCAGTCCCGGC
TGTGGGGCCGTGCCGGGGGGCCCGCCGGGGCGGAGGGCAGCATCAACGCCGGCGGCTGCAACTT
CAACTCCTTCCTGCGGCGTACGGTGCGGTTTGTGGGTGTCCACGTGTTCGGCCTGTGTGCCACA
GCCCTGGTGACGGACGTGATCCAGCTGGCCACGGGTTACCACACTCCCTTCTTCCTCACCGTCT
GCAAGCCCAACTACACTCTCCTGGGCACGTCCTGCGAGGTCAACCCCTACATCACGCAGGACAT
CTGCTCCGGCCACGACATCCACGCCATCCTGTCTGCACGGAAGACCTTCCCGTCCCAGCACGCC
ACGCTGTCAGCCTTCGCCGCGGTCTATGTGTCGGTGAGTCCGGCCCCTCACTGCCCTTCCCAGG
CCCTCTTGCTGACCCGTGGGGAGCCCTCCCTGACCCCAACCCCCATGCCCCAGATGTACTTCAA
CTCGGTCATCTCGGACACCACCAAGCTGCTGAAGCCCATCCTGGTCTTCGCCTTTGCCATCGCC
GCGGGCGTATGCGGGCTCACGCAGATCACGCAGTACCGCAGCCACCCTGTGGACGTGTATGCCG
GCTTCCTCATCGGGGCGGGCATCGCTGCCTACCTGGCCTGCCACGCGGTGGGCAACTTCCAGGC
CCCACCTGCAGAGAAGCCCGCGGCCCCGGCCCCCGCCAAGGACGCGCTGCGGGCCCTGACGCAG
CGGGGCCACGACTCGGTTTATCAGCAGAATAAGTCGGTGAGCACCGACGAGCTGGGGCCCCCAG
GGCGGCTGGAGGGCGCGCCCCGGCCCGTGGCCCGCGAGAAGACCTCGCTGGGCAGCCTGAAGCG
CGCCAGCGTGGACGTGGACCTGCTGGCCCCGCGCAGCCCCATGGCCAAGGAGAACATGGTGACC
TTCAGCCACACGCTGCCCAGGGCCAGCGCGCCCTCGCTGGACGACCCCGCGCGCCGCCACATGA
CCATCCACGTGCCGCTGGACGCCTCGCGCTCCAAGCAGCTCATCAGCGAGTGGAAGCAGAAGAG
CCTGGAGGGCCGCGGCCTGGGGCTGCCCGACGACGCCAGCCCCGGGCACCTGCGCGCGCCCGCC
GAACCCATGGCGGAGGAGGAGGAAGAGGAGGAGGACGAAGAGGAAGAGGAGGAGGAGGAAGAGG
AGGAGGACGAGGGCCCGGCCCCGCCCTCGCTCTACCCCACCGTGCAGGCGCGGCCGGGGCTGGG
GCCTCGGGTCATCCTCCCACCGCGCGCGGGGCCGCCGCCGCTGGTGCACATCCCGGAGGAGGGC
GCGCAGACGGGGGCCGGCCTGTCCCCCAAAAGCGGCGCCGGGGTGCGCGCCAAGTGGCTCATGA
TGGCCGAGAAGAGCGGGGCGGCAGTGGCCAACCCTCCGCGGCTGCTGCAGGTCATCGCCATGTC
CAAGGCTCCGGGCGCGCCGGGCCCCAAGGCGGCCGAGACGGCGTCGTCGTCCAGCGCCAGCTCC
GACTCCTCGCAGTACCGGTCGCCGTCGGACCGCGACTCCGCCAGCATCGTGACCATCGACGCGC
ACGCGCCGCACCACCCCGTGGTGCACCTGTCGGCCGGCGGCGCGCCCTGGGAGTGGAAGGCGGC
GGGCGGCGGGGCCAAGGCGGAGGCCGACGGCGGCTACGAGCTGGGGGACCTGGCGCGCGGCTTC
CGCGGCGGGGCCAAGCCCCCGGGCGTGTCCCCCGGCTCGTCGGTCAGCGACGTGGACCAGGAGG
AGCCGCGGTTCGGGGCCGTGGCCACCGTCAACCTGGCCACGGGCGAGGGGCTGCCCCCGCTGGG
CGCGGCCGATGGGGCGCTGGGCCCGGGCAGCCGGGAGTCCACGCTGCGGCGCCACGCGGGCGGC
CTGGGGCTGGCGGAGCGCGAGGCGGAGGCGGAGGCCGAGGGCTACTTCCGCAAGATGCAGGCGC
GCCGCTTCCCCGACTAGCGCGGCGGGGCCGGGGGCGGGCGGGGGGCGGGCCGAGGGCGCGGGCG
GCCGCGCGGATGCTCAATAAAGCGGCAGAAACCGAGGTCCGGCTCTTGGTCATTCGCTCTGGCC
CGCACGCCCCACGCAGGGACCCCCACTCTCAGGGCCGGGCCCACCCCGCCCGTGGCCCCACCTG
GCGCTTCGGCGGACACCCGGGCGGGAGTCGGGGCCGCCCGCGGCACAGAAAGAGGAAGCCAGCA
ACGAAGGCGGAACGGAGCGAGGATACAGAAGATTTATTCGAAGTCCAGGTACAGACTGGCCAAC
CTGCCTCTACAGCGTCCACAGCGAACACAGGGCTAGACAAGGGAGGAGTTTCTCAAACGGTTTT
AATCGGTTCTCTCCGCGTCACAAGCCATCGGGTAAGGCAACGGAATGTGCGTGGGGTCCCCTGT
GGCTCCGCGGTCACAATACTGAGCCTGGAATTGCTGTTAGCAAAATATACATTTGTGTCACCAT
AAAAAACCGCGCCGCCGCCCCTCGGGTCTCACAACAGGTATAAAAAATTATAAATATTTACACC
CTTGTTACACGCTTTTACGGAAAGGGGATCCTAGGAGAGCCCCCGGGACAGGACGCGGGGGCGG
TAGAAAGAGCACAGAGAAGACAGGAGGAGCGCCCGCCTTCCGGGTCCCAGCATCAGAGGCAGGC
AAAACACAGAAATGAGACTTTGGTCCAAAATTTGAAGGAAGAAAAAACCCTGAAGTTTGAGAGC
AAGTTTTCTAGGCGACTGCAGGTGAAGGCGTGGTGTAAGGCAACCGGAGGCGATGCCAGAGGCG
GCGACACGCCCGCCCCTTCCCTGAAGCTCAGGGGCTCTAAGATAGGACCGGGGCTCCCTGTGCC
TGACCCACTGGGCGGCCCCGCCTGCTCTCTGGAAACTGGGTCCTGCCTGTGACTTAATTACAAG
GAATAAAATAAAAGTAACAGCATACAAGGTAATACCACAAGGAAGTTTAGATTACACTCATACC
ATTGTATCATCTTGCTATAAAAAGTTACTTAAAACTATTTCTTTTGCATATAAATGAAAAAAGA
TTAGAATATTTGGTCAACTGGAAATATTGCTAGGCACAGACGTCTGCAACTGCAAAGTATATAA
TACAGAGATTATGTCGACCAGCTCCGCAGCTGGAGCAGCGGGGAGCCCGCCTGGGGGCAGAAGG
GAAGGCCCTGGGGGCGGGGTGAAGGGAGAATCACGTGACTTGATTAGAGGGCTGGGGTTGGGGT
GTCGCAGCCGCGGCCGCCGCGCCCCAGCTGCATGATCCTGCAGGAGCCGGCCAGGCCCCCTGCC
TCTCTCTGGTGTGACCCCCCCACCCCTTGGGTCCCCAGGACACCCCGGGTGGGTGTGTGGCTGC
AGGAAGGCAGGTTTTTTAAGGCACAAGGAAGCCAAGTCGTGGTCGGGGCGCCCACCTGCAGGCC
CCACGCCCGACACAGGCCCCACCAAGGCATGGCCCCGAGGGTCTGGCCCCGGGTGTGGAGGGCC
GGGAACTCCCGCTGCCACAGTCACCAAGAGCCTGAGCTGTCCCTGTCACCGCAGGGTGAGCAAG
GTGAACTAGATTTAATTTTTT

hide sequence

RefSeq Acc Id:

XM_054322207 ⟹ XP_054178182

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	766,962 - 778,213 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001257295	(Get FASTA)	NCBI Sequence Viewer
	NP_079164	(Get FASTA)	NCBI Sequence Viewer
	XP_011526619	(Get FASTA)	NCBI Sequence Viewer
	XP_054178182	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH12339	(Get FASTA)	NCBI Sequence Viewer
	AAO85401	(Get FASTA)	NCBI Sequence Viewer
	AAP57771	(Get FASTA)	NCBI Sequence Viewer
	AAP72154	(Get FASTA)	NCBI Sequence Viewer
	AAR10818	(Get FASTA)	NCBI Sequence Viewer
	BAB13851	(Get FASTA)	NCBI Sequence Viewer
	CAB66531	(Get FASTA)	NCBI Sequence Viewer
	EAW61149	(Get FASTA)	NCBI Sequence Viewer
	EAW61150	(Get FASTA)	NCBI Sequence Viewer
	EAW61151	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000352962
	ENSP00000352962.2
	ENSP00000430297
	ENSP00000430297.1
	ENSP00000430544.2
	ENSP00000466122.2
	ENSP00000487866.1
	ENSP00000488138.1
	ENSP00000488788.1
GenBank Protein	Q6T4P5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_079164 ⟸ NM_024888
- Peptide Label:	isoform 1
- UniProtKB:	Q6T4P5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MISTKEKNKIPKDSMTLLPCFYFVELPIVASSIVSLYFLELTDLFKPAKVGFQCYDRTLSMPYV ETNEELIPLLMLLSLAFAAPAASIMVAEGMLYCLQSRLWGRAGGPAGAEGSINAGGCNFNSFLR RTVRFVGVHVFGLCATALVTDVIQLATGYHTPFFLTVCKPNYTLLGTSCEVNPYITQDICSGHD IHAILSARKTFPSQHATLSAFAAVYVSVSPAPHCPSQALLLTRGEPSLTPTPMPQMYFNSVISD TTKLLKPILVFAFAIAAGVCGLTQITQYRSHPVDVYAGFLIGAGIAAYLACHAVGNFQAPPAEK PAAPAPAKDALRALTQRGHDSVYQQNKSVSTDELGPPGRLEGAPRPVAREKTSLGSLKRASVDV DLLAPRSPMAKENMVTFSHTLPRASAPSLDDPARRHMTIHVPLDASRSKQLISEWKQKSLEGRG LGLPDDASPGHLRAPAEPMAEEEEEEEDEEEEEEEEEEEDEGPAPPSLYPTVQARPGLGPRVIL PPRAGPPPLVHIPEEGAQTGAGLSPKSGAGVRAKWLMMAEKSGAAVANPPRLLQVIAMSKAPGA PGPKAAETASSSSASSDSSQYRSPSDRDSASIVTIDAHAPHHPVVHLSAGGAPWEWKAAGGGAK AEADGGYELGDLARGFRGGAKPPGVSPGSSVSDVDQEEPRFGAVATVNLATGEGLPPLGAADGA LGPGSRESTLRRHAGGLGLAEREAEAEAEGYFRKMQARRFPD hide sequence

RefSeq Acc Id:	NP_001257295 ⟸ NM_001270366
- Peptide Label:	isoform 2
- UniProtKB:	Q9BQF9 (UniProtKB/Swiss-Prot), Q96EH1 (UniProtKB/Swiss-Prot), Q86XQ4 (UniProtKB/Swiss-Prot), Q9HAJ4 (UniProtKB/Swiss-Prot), Q6T4P5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MISTKEKNKIPKDSMTLLPCFYFVELPIVASSIVSLYFLELTDLFKPAKVGFQCYDRTLSMPYV ETNEELIPLLMLLSLAFAAPAASIMVAEGMLYCLQSRLWGRAGGPAGAEGSINAGGCNFNSFLR RTVRFVGVHVFGLCATALVTDVIQLATGYHTPFFLTVCKPNYTLLGTSCEVNPYITQDICSGHD IHAILSARKTFPSQHATLSAFAAVYVSMYFNSVISDTTKLLKPILVFAFAIAAGVCGLTQITQY RSHPVDVYAGFLIGAGIAAYLACHAVGNFQAPPAEKPAAPAPAKDALRALTQRGHDSVYQQNKS VSTDELGPPGRLEGAPRPVAREKTSLGSLKRASVDVDLLAPRSPMAKENMVTFSHTLPRASAPS LDDPARRHMTIHVPLDASRSKQLISEWKQKSLEGRGLGLPDDASPGHLRAPAEPMAEEEEEEED EEEEEEEEEEEDEGPAPPSLYPTVQARPGLGPRVILPPRAGPPPLVHIPEEGAQTGAGLSPKSG AGVRAKWLMMAEKSGAAVANPPRLLQVIAMSKAPGAPGPKAAETASSSSASSDSSQYRSPSDRD SASIVTIDAHAPHHPVVHLSAGGAPWEWKAAGGGAKAEADGGYELGDLARGFRGGAKPPGVSPG SSVSDVDQEEPRFGAVATVNLATGEGLPPLGAADGALGPGSRESTLRRHAGGLGLAEREAEAEA EGYFRKMQARRFPD hide sequence

RefSeq Acc Id:	XP_011526619 ⟸ XM_011528317
- Peptide Label:	isoform X1
- UniProtKB:	Q6T4P5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MISTKEKNKIPKDSMTLLPCFYFVELPIVASSIVSLYFLELTDLFKPAKVGFQCYDRTLSMPYV ETNEELIPLLMLLSLAFAAPAASIMVAEGMLYCLQSRLWGRAGGPAGAEGSINAGGCNFNSFLR RTVRFVGVHVFGLCATALVTDVIQLATGYHTPFFLTVCKPNYTLLGTSCEVNPYITQDICSGHD IHAILSARKTFPSQHATLSAFAAVYVSVSPAPHCPSQALLLTRGEPSLTPTPMPQMYFNSVISD TTKLLKPILVFAFAIAAGVCGLTQITQYRSHPVDVYAGFLIGAGIAAYLACHAVGNFQAPPAEK PAAPAPAKDALRALTQRGHDSVYQQNKSVSTDELGPPGRLEGAPRPVAREKTSLGSLKRASVDV DLLAPRSPMAKENMVTFSHTLPRASAPSLDDPARRHMTIHVPLDASRSKQLISEWKQKSLEGRG LGLPDDASPGHLRAPAEPMAEEEEEEEDEEEEEEEEEEEDEGPAPPSLYPTVQARPGLGPRVIL PPRAGPPPLVHIPEEGAQTGAGLSPKSGAGVRAKWLMMAEKSGAAVANPPRLLQVIAMSKAPGA PGPKAAETASSSSASSDSSQYRSPSDRDSASIVTIDAHAPHHPVVHLSAGGAPWEWKAAGGGAK AEADGGYELGDLARGFRGGAKPPGVSPGSSVSDVDQEEPRFGAVATVNLATGEGLPPLGAADGA LGPGSRESTLRRHAGGLGLAEREAEAEAEGYFRKMQARRFPD hide sequence

RefSeq Acc Id:

ENSP00000352962 ⟸ ENST00000359894

RefSeq Acc Id:

ENSP00000430544 ⟸ ENST00000517665

RefSeq Acc Id:

ENSP00000466122 ⟸ ENST00000519502

RefSeq Acc Id:

ENSP00000430297 ⟸ ENST00000520876

RefSeq Acc Id:	XP_054178182 ⟸ XM_054322207
- Peptide Label:	isoform X1

Protein Domains

Phosphatidic acid phosphatase type 2/haloperoxidase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6T4P5-F1-model_v2	AlphaFold	Q6T4P5	1-718	view protein structure

Promoters

RGD ID:

6795774

Promoter ID:

HG_KWN:28339

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, NB4

Transcripts:

ENST00000300947, NM_024888, UC002LPX.1, UC002LPY.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	772,531 - 773,062 (-)	MPROMDB

RGD ID:

7237735

Promoter ID:

EPDNEW_H24612

Type:

initiation region

Name:

LPPR3_1

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	821,942 - 822,002	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:23497	AgrOrtholog
COSMIC	PLPPR3	COSMIC
Ensembl Genes	ENSG00000129951	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000282283	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000359894	ENTREZGENE
	ENST00000359894.6	UniProtKB/Swiss-Prot
	ENST00000517665.2	UniProtKB/TrEMBL
	ENST00000519502.2	UniProtKB/TrEMBL
	ENST00000520876	ENTREZGENE
	ENST00000520876.8	UniProtKB/Swiss-Prot
	ENST00000632433.1	UniProtKB/TrEMBL
	ENST00000633312.1	UniProtKB/TrEMBL
	ENST00000633654.1	UniProtKB/TrEMBL
Gene3D-CATH	Phosphatidic acid phosphatase type 2/haloperoxidase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000129951	GTEx
	ENSG00000282283	GTEx
HGNC ID	HGNC:23497	ENTREZGENE
Human Proteome Map	PLPPR3	Human Proteome Map
InterPro	P_Acid_Pase_2/haloperoxi_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P_Acid_Pase_2/haloperoxidase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PLPP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:79948	UniProtKB/Swiss-Prot
NCBI Gene	79948	ENTREZGENE
OMIM	610391	OMIM
PANTHER	PTHR10165	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR10165:SF14	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	PAP2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA166181597	PharmGKB
SMART	acidPPc	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48317	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0J9YW95_HUMAN	UniProtKB/TrEMBL
	H0YBY4_HUMAN	UniProtKB/TrEMBL
	K7ELK5_HUMAN	UniProtKB/TrEMBL
	PLPR3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q86XQ4	ENTREZGENE
	Q96EH1	ENTREZGENE
	Q9BQF9	ENTREZGENE
	Q9HAJ4	ENTREZGENE
UniProt Secondary	Q86XQ4	UniProtKB/Swiss-Prot
	Q96EH1	UniProtKB/Swiss-Prot
	Q9BQF9	UniProtKB/Swiss-Prot
	Q9HAJ4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-10-20	PLPPR3	phospholipid phosphatase related 3	LPPR3	lipid phosphate phosphatase-related protein type 3	Symbol and/or name change	5135510	APPROVED
2011-09-01	LPPR3	lipid phosphate phosphatase-related protein type 3	LPPR3	lipid phosphate phosphatase-related protein type 3	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Send us a Message

Imported Disease Annotations - ClinVar