OTOP3 (otopetrin 3) - Rat Genome Database

Name: OTOP3
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: OTOP3 (otopetrin 3) Homo sapiens

Analyze

Symbol:

OTOP3

Name:

otopetrin 3

RGD ID:

1315404

HGNC Page

HGNC:19658

Description:

Predicted to enable identical protein binding activity and proton channel activity. Predicted to be involved in proton transmembrane transport. Predicted to be located in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

otopetrin-3; proton channel OTOP3

RGD Orthologs

Alliance Orthologs

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):	Otop3 (otopetrin 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Otop3 (otopetrin 3)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Otop3 (otopetrin 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	OTOP3 (otopetrin 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	OTOP3 (otopetrin 3)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Otop3 (otopetrin 3)	NCBI	Ortholog
Sus scrofa (pig):	OTOP3 (otopetrin 3)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	OTOP3 (otopetrin 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Otop3 (otopetrin 3)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Arap1 (ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Otop3 (otopetrin 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Otop3 (otopetrin 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	otpl-1	Alliance	DIOPT (InParanoid\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	OtopLb	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoInspector\|PANTHER)
Caenorhabditis elegans (roundworm):	otpl-3	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|PANTHER)
Caenorhabditis elegans (roundworm):	otpl-5	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|PANTHER)
Caenorhabditis elegans (roundworm):	otpl-6	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	OtopLa	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	otop3	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	otop3.L	Alliance	DIOPT (Xenbase)

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	17	74,935,802 - 74,949,992 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	74,935,898 - 74,949,992 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	72,931,897 - 72,946,087 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	70,443,492 - 70,457,106 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	70,443,491 - 70,457,106	NCBI
Celera	17	69,525,122 - 69,538,736 (+)	NCBI		Celera
Cytogenetic Map	17	q25.1	NCBI
HuRef	17	68,342,265 - 68,356,433 (+)	NCBI		HuRef
CHM1_1	17	72,996,714 - 73,010,911 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	75,827,605 - 75,841,795 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,6-dinitrotoluene (ISO)

4,4'-sulfonyldiphenol (ISO)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP,ISO)

beta-damascenone (ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

C60 fullerene (ISO)

folic acid (EXP,ISO)

furan (ISO)

lead diacetate (ISO)

rotenone (EXP)

silicon dioxide (EXP)

tetrachloroethene (ISO)

titanium dioxide (ISO)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

proton transmembrane transport (IBA,IEA,ISS)

Cellular Component

membrane (IBA,IEA)

plasma membrane (IEA)

Molecular Function

identical protein binding (ISS)

protein binding (IPI)

proton channel activity (IBA,IEA,ISS)

References

References - curated

#	Reference Title	Reference Citation
1.	Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1.	Hurle B, etal., Hum Mol Genet 2003 Apr 1;12(7):777-89.
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:21697133	PMID:21873635	PMID:32296183	PMID:36724073

Genomics

Comparative Map Data

OTOP3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	74,935,802 - 74,949,992 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	74,935,898 - 74,949,992 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	72,931,897 - 72,946,087 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	70,443,492 - 70,457,106 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	70,443,491 - 70,457,106	NCBI
Celera	17	69,525,122 - 69,538,736 (+)	NCBI		Celera
Cytogenetic Map	17	q25.1	NCBI
HuRef	17	68,342,265 - 68,356,433 (+)	NCBI		HuRef
CHM1_1	17	72,996,714 - 73,010,911 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	75,827,605 - 75,841,795 (+)	NCBI		T2T-CHM13v2.0

Otop3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	115,225,557 - 115,237,753 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	115,225,557 - 115,237,753 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	115,334,731 - 115,346,927 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	115,334,731 - 115,346,927 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	115,196,048 - 115,208,240 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	115,150,869 - 115,163,016 (+)	NCBI		MGSCv36	mm8
Celera	11	127,100,606 - 127,112,806 (+)	NCBI		Celera
Cytogenetic Map	11	E2	NCBI
cM Map	11	80.84	NCBI

Otop3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	101,076,307 - 101,087,704 (+)	NCBI		GRCr8
mRatBN7.2	10	100,577,346 - 100,588,729 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	100,577,392 - 100,588,726 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	105,637,549 - 105,648,857 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	105,100,608 - 105,111,926 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	100,498,380 - 100,509,713 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	103,887,045 - 103,898,331 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	103,891,369 - 103,898,331 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	104,393,465 - 104,404,614 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	105,412,853 - 105,423,998 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	105,431,699 - 105,438,014 (+)	NCBI
Celera	10	99,152,946 - 99,164,011 (+)	NCBI		Celera
Cytogenetic Map	10	q32.1	NCBI

Otop3
(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_004955553	1,806,313 - 1,817,698 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955553	1,806,313 - 1,817,515 (+)	NCBI	ChiLan1.0	ChiLan1.0

OTOP3
(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	19	90,971,951 - 90,987,154 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	95,794,959 - 95,810,148 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	68,880,492 - 68,895,449 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	74,437,267 - 74,451,832 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	74,437,350 - 74,451,832 (+)	Ensembl	panpan1.1		panPan2

OTOP3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	5,505,848 - 5,515,157 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	5,506,350 - 5,513,846 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	6,184,104 - 6,197,277 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	6,176,417 - 6,189,531 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	6,176,917 - 6,189,452 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	6,213,582 - 6,226,662 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	6,323,913 - 6,337,105 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	6,384,354 - 6,397,454 (-)	NCBI		UU_Cfam_GSD_1.0

Otop3
(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_024405602	6,127,786 - 6,138,177 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936594	273,866 - 283,663 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936594	273,866 - 283,663 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

OTOP3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	6,311,696 - 6,322,080 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	6,311,308 - 6,323,038 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	6,296,146 - 6,323,574 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

OTOP3
(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	16	46,730,412 - 46,745,104 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	46,730,972 - 46,745,021 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	17,516,315 - 17,531,400 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Otop3
(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_004624801	4,772,661 - 4,782,681 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624801	4,772,600 - 4,783,535 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in OTOP3
55 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	copy number gain	See cases [RCV000052486]	Chr17:69209079..83086677 [GRCh38] Chr17:67205220..81044553 [GRCh37] Chr17:64716815..78637842 [NCBI36] Chr17:17q24.3-25.3	pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|See cases [RCV000052483]	Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3	pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	copy number gain	See cases [RCV000137437]	Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1	pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	copy number gain	See cases [RCV000143342]	Chr17:69916435..83102552 [GRCh38] Chr17:67912576..81048189 [GRCh37] Chr17:65424171..78653717 [NCBI36] Chr17:17q24.3-25.3	pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3	copy number gain	See cases [RCV000447577]	Chr17:64241326..81041938 [GRCh37] Chr17:17q24.2-25.3	pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	copy number gain	See cases [RCV000447823]	Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_001272005.2(OTOP3):c.434G>A (p.Arg145Gln)	single nucleotide variant	not specified [RCV004311376]	Chr17:74941807 [GRCh38] Chr17:72937902 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	copy number gain	not provided [RCV000585184]	Chr17:72901452..73518861 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1691G>A (p.Arg564His)	single nucleotide variant	not specified [RCV004293438]	Chr17:74949370 [GRCh38] Chr17:72945465 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	copy number gain	See cases [RCV000512573]	Chr17:67002415..81041938 [GRCh37] Chr17:17q24.2-25.3	pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	copy number gain	not provided [RCV000683952]	Chr17:63689671..81041938 [GRCh37] Chr17:17q24.1-25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	copy number gain	not provided [RCV000762750]	Chr17:64159738..74891024 [GRCh37] Chr17:17q24.1-25.2	likely pathogenic
GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	copy number gain	not provided [RCV000767767]	Chr17:70720436..73175266 [GRCh37] Chr17:17q24.3-25.1	pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	copy number gain	not provided [RCV000849900]	Chr17:62778720..81041938 [GRCh37] Chr17:17q24.1-25.3	pathogenic
GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	copy number gain	not provided [RCV001006917]	Chr17:72945415..73414786 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.77C>T (p.Pro26Leu)	single nucleotide variant	not specified [RCV004302235]	Chr17:74941450 [GRCh38] Chr17:72937545 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q25.1(chr17:72718277-74142256)	copy number gain	7q11.23 microduplication syndrome [RCV003325440]	Chr17:72718277..74142256 [GRCh37] Chr17:17q25.1	pathogenic
NM_001272005.2(OTOP3):c.878T>C (p.Met293Thr)	single nucleotide variant	not specified [RCV004128690]	Chr17:74946787 [GRCh38] Chr17:72942882 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1180C>T (p.Arg394Cys)	single nucleotide variant	not specified [RCV004204043]	Chr17:74947089 [GRCh38] Chr17:72943184 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.100G>A (p.Val34Met)	single nucleotide variant	not specified [RCV004230983]	Chr17:74941473 [GRCh38] Chr17:72937568 [GRCh37] Chr17:17q25.1	likely benign
NM_001272005.2(OTOP3):c.1141C>G (p.Leu381Val)	single nucleotide variant	not specified [RCV004140526]	Chr17:74947050 [GRCh38] Chr17:72943145 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1151G>A (p.Arg384Lys)	single nucleotide variant	not specified [RCV004215259]	Chr17:74947060 [GRCh38] Chr17:72943155 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1516C>T (p.Arg506Trp)	single nucleotide variant	not specified [RCV004194408]	Chr17:74947425 [GRCh38] Chr17:72943520 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.268A>T (p.Ser90Cys)	single nucleotide variant	not specified [RCV004239043]	Chr17:74941641 [GRCh38] Chr17:72937736 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.512G>T (p.Arg171Leu)	single nucleotide variant	not specified [RCV004129088]	Chr17:74941976 [GRCh38] Chr17:72938071 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.889G>A (p.Val297Met)	single nucleotide variant	not specified [RCV004189765]	Chr17:74946798 [GRCh38] Chr17:72942893 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.429G>C (p.Trp143Cys)	single nucleotide variant	not specified [RCV004199883]	Chr17:74941802 [GRCh38] Chr17:72937897 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.805C>T (p.Arg269Trp)	single nucleotide variant	not specified [RCV004237961]	Chr17:74946714 [GRCh38] Chr17:72942809 [GRCh37] Chr17:17q25.1	uncertain significance
NM_178233.2(OTOP3):c.55C>T (p.Arg19Trp)	single nucleotide variant	not specified [RCV004172108]	Chr17:74935856 [GRCh38] Chr17:72931951 [GRCh37] Chr17:17q25.1	uncertain significance
NM_178233.2(OTOP3):c.42G>T (p.Trp14Cys)	single nucleotide variant	not specified [RCV004120819]	Chr17:74935843 [GRCh38] Chr17:72931938 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.352C>T (p.Leu118Phe)	single nucleotide variant	not specified [RCV004125092]	Chr17:74941725 [GRCh38] Chr17:72937820 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.362A>G (p.Tyr121Cys)	single nucleotide variant	not specified [RCV004102306]	Chr17:74941735 [GRCh38] Chr17:72937830 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.962T>C (p.Phe321Ser)	single nucleotide variant	not specified [RCV004183508]	Chr17:74946871 [GRCh38] Chr17:72942966 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1567C>G (p.Leu523Val)	single nucleotide variant	not specified [RCV004157217]	Chr17:74949246 [GRCh38] Chr17:72945341 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.728G>A (p.Gly243Asp)	single nucleotide variant	not specified [RCV004245413]	Chr17:74943701 [GRCh38] Chr17:72939796 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.292G>A (p.Val98Ile)	single nucleotide variant	not specified [RCV004082769]	Chr17:74941665 [GRCh38] Chr17:72937760 [GRCh37] Chr17:17q25.1	likely benign
NM_001272005.2(OTOP3):c.896G>A (p.Arg299His)	single nucleotide variant	not specified [RCV004229475]	Chr17:74946805 [GRCh38] Chr17:72942900 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.610C>T (p.Arg204Trp)	single nucleotide variant	not specified [RCV004182044]	Chr17:74943322 [GRCh38] Chr17:72939417 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.109G>A (p.Glu37Lys)	single nucleotide variant	not specified [RCV004199648]	Chr17:74941482 [GRCh38] Chr17:72937577 [GRCh37] Chr17:17q25.1	likely benign
NM_001272005.2(OTOP3):c.922C>T (p.His308Tyr)	single nucleotide variant	not specified [RCV004071494]	Chr17:74946831 [GRCh38] Chr17:72942926 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1267C>T (p.Arg423Cys)	single nucleotide variant	not specified [RCV004072558]	Chr17:74947176 [GRCh38] Chr17:72943271 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.125C>T (p.Ala42Val)	single nucleotide variant	not specified [RCV004175979]	Chr17:74941498 [GRCh38] Chr17:72937593 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.823C>T (p.Leu275Phe)	single nucleotide variant	not specified [RCV004120004]	Chr17:74946732 [GRCh38] Chr17:72942827 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.206G>A (p.Gly69Glu)	single nucleotide variant	not specified [RCV004188988]	Chr17:74941579 [GRCh38] Chr17:72937674 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.968C>T (p.Pro323Leu)	single nucleotide variant	not specified [RCV004075738]	Chr17:74946877 [GRCh38] Chr17:72942972 [GRCh37] Chr17:17q25.1	likely benign
NM_001272005.2(OTOP3):c.374C>G (p.Thr125Ser)	single nucleotide variant	not specified [RCV004110901]	Chr17:74941747 [GRCh38] Chr17:72937842 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.364G>A (p.Val122Met)	single nucleotide variant	not specified [RCV004119121]	Chr17:74941737 [GRCh38] Chr17:72937832 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.901G>A (p.Val301Met)	single nucleotide variant	not specified [RCV004077958]	Chr17:74946810 [GRCh38] Chr17:72942905 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.549C>G (p.Ile183Met)	single nucleotide variant	not specified [RCV004188722]	Chr17:74942013 [GRCh38] Chr17:72938108 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.485G>A (p.Arg162Gln)	single nucleotide variant	not specified [RCV004241820]	Chr17:74941949 [GRCh38] Chr17:72938044 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1271C>T (p.Pro424Leu)	single nucleotide variant	not specified [RCV004069513]	Chr17:74947180 [GRCh38] Chr17:72943275 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1231A>G (p.Ile411Val)	single nucleotide variant	not specified [RCV004238615]	Chr17:74947140 [GRCh38] Chr17:72943235 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1351A>G (p.Ile451Val)	single nucleotide variant	not specified [RCV004278005]	Chr17:74947260 [GRCh38] Chr17:72943355 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1562T>C (p.Ile521Thr)	single nucleotide variant	not specified [RCV004251466]	Chr17:74947471 [GRCh38] Chr17:72943566 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.977G>T (p.Gly326Val)	single nucleotide variant	not specified [RCV004256238]	Chr17:74946886 [GRCh38] Chr17:72942981 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1333G>A (p.Ala445Thr)	single nucleotide variant	not specified [RCV004272949]	Chr17:74947242 [GRCh38] Chr17:72943337 [GRCh37] Chr17:17q25.1	likely benign
NM_001272005.2(OTOP3):c.209A>G (p.Gln70Arg)	single nucleotide variant	not specified [RCV004261939]	Chr17:74941582 [GRCh38] Chr17:72937677 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	copy number loss	not provided [RCV003222940]	Chr17:72864876..73328878 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1211C>G (p.Ala404Gly)	single nucleotide variant	not specified [RCV004255155]	Chr17:74947120 [GRCh38] Chr17:72943215 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.422C>G (p.Pro141Arg)	single nucleotide variant	not specified [RCV004325218]	Chr17:74941795 [GRCh38] Chr17:72937890 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.952G>A (p.Gly318Arg)	single nucleotide variant	not specified [RCV004254515]	Chr17:74946861 [GRCh38] Chr17:72942956 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1175C>T (p.Pro392Leu)	single nucleotide variant	not specified [RCV004261291]	Chr17:74947084 [GRCh38] Chr17:72943179 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1369C>T (p.Arg457Cys)	single nucleotide variant	not specified [RCV004296954]	Chr17:74947278 [GRCh38] Chr17:72943373 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.633G>A (p.Arg211=)	single nucleotide variant	not specified [RCV004351333]	Chr17:74943606 [GRCh38] Chr17:72939701 [GRCh37] Chr17:17q25.1	likely benign
NM_001272005.2(OTOP3):c.1396G>A (p.Gly466Ser)	single nucleotide variant	not specified [RCV004345829]	Chr17:74947305 [GRCh38] Chr17:72943400 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.707G>A (p.Arg236Gln)	single nucleotide variant	not specified [RCV004356456]	Chr17:74943680 [GRCh38] Chr17:72939775 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.327G>A (p.Thr109=)	single nucleotide variant	not provided [RCV003428465]	Chr17:74941700 [GRCh38] Chr17:72937795 [GRCh37] Chr17:17q25.1	likely benign
NM_001272005.2(OTOP3):c.1611C>T (p.Asn537=)	single nucleotide variant	not provided [RCV003428466]	Chr17:74949290 [GRCh38] Chr17:72945385 [GRCh37] Chr17:17q25.1	likely benign
NM_001272005.1(OTOP3):c.-119T>C	single nucleotide variant	not provided [RCV003421480]	Chr17:74935803 [GRCh38] Chr17:72931898 [GRCh37] Chr17:17q25.1	likely benign
NM_001272005.2(OTOP3):c.549C>T (p.Ile183=)	single nucleotide variant	not provided [RCV003421481]	Chr17:74942013 [GRCh38] Chr17:72938108 [GRCh37] Chr17:17q25.1	likely benign
GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	copy number gain	not specified [RCV003987236]	Chr17:72875847..73484159 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.187C>T (p.Arg63Trp)	single nucleotide variant	not specified [RCV004504681]	Chr17:74941560 [GRCh38] Chr17:72937655 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.568G>A (p.Val190Ile)	single nucleotide variant	not specified [RCV004504686]	Chr17:74942032 [GRCh38] Chr17:72938127 [GRCh37] Chr17:17q25.1	likely benign
NM_178233.2(OTOP3):c.77G>T (p.Arg26Leu)	single nucleotide variant	not specified [RCV004504688]	Chr17:74935878 [GRCh38] Chr17:72931973 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1262C>G (p.Ala421Gly)	single nucleotide variant	not specified [RCV004504677]	Chr17:74947171 [GRCh38] Chr17:72943266 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.689C>A (p.Thr230Asn)	single nucleotide variant	not specified [RCV004504687]	Chr17:74943662 [GRCh38] Chr17:72939757 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.460T>C (p.Cys154Arg)	single nucleotide variant	not specified [RCV004504685]	Chr17:74941924 [GRCh38] Chr17:72938019 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.259T>G (p.Phe87Val)	single nucleotide variant	not specified [RCV004504682]	Chr17:74941632 [GRCh38] Chr17:72937727 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1234G>A (p.Ala412Thr)	single nucleotide variant	not specified [RCV004504676]	Chr17:74947143 [GRCh38] Chr17:72943238 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.1370G>A (p.Arg457His)	single nucleotide variant	not specified [RCV004504679]	Chr17:74947279 [GRCh38] Chr17:72943374 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.179G>A (p.Arg60Gln)	single nucleotide variant	not specified [RCV004504680]	Chr17:74941552 [GRCh38] Chr17:72937647 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.388C>G (p.His130Asp)	single nucleotide variant	not specified [RCV004504684]	Chr17:74941761 [GRCh38] Chr17:72937856 [GRCh37] Chr17:17q25.1	uncertain significance
NM_178233.2(OTOP3):c.89C>T (p.Ser30Leu)	single nucleotide variant	not specified [RCV004504689]	Chr17:74935890 [GRCh38] Chr17:72931985 [GRCh37] Chr17:17q25.1	uncertain significance
NM_001272005.2(OTOP3):c.938C>G (p.Pro313Arg)	single nucleotide variant	not specified [RCV004504690]	Chr17:74946847 [GRCh38] Chr17:72942942 [GRCh37] Chr17:17q25.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1714
Count of miRNA genes:	727
Interacting mature miRNAs:	848
Transcripts:	ENST00000328801, ENST00000580749
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

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	adipose tissue	appendage
High
Medium	7			13	2		50			1	9	6	13		50
Low	211	3	10	33	74	6	844	16	11	2	87	32	29	2	601
Below cutoff	955	897	550	131	584	82	1304	680	1505	43	692	547	56	410	706

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001272005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_178233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011524744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054315947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB593153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC087651	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143799	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK000568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456318	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000328801 ⟹ ENSP00000328090

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	74,935,898 - 74,949,992 (+)	Ensembl

RefSeq Acc Id:

NM_001272005 ⟹ NP_001258934

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	74,935,898 - 74,949,992 (+)	NCBI
HuRef	17	68,342,265 - 68,356,433 (+)	NCBI
CHM1_1	17	72,996,714 - 73,010,911 (+)	NCBI
T2T-CHM13v2.0	17	75,827,701 - 75,841,795 (+)	NCBI

Sequence:

show sequence

GCAGTCGGTGGTTAGCCCACGGCGATGCCTCTCCCGGCCTCAGCCCCTGCTGAGGCTACACCCA
TGCCTTCTTCAGAAGCACAGGAGACTGAAGCAGCCCCGGAGAAGGAGAACCGAGTGGATGTGGG
GGCCGAGGAGAGAGCGGCCGCCACCCGGCCCCGGCAGAAGTCCTGGCTGGTGAGGCATTTCTCT
CTGCTGCTGCGGCGGGACCGGCAGGCCCAGAAGGCTGGACAACTCTTCTCGGGGCTCCTGGCCC
TGAATGTGGTGTTCCTGGGTGGCGCCTTCATCTGCAGCATGATCTTCAACAAGGTGGCCGTCAC
TCTGGGTGACGTGTGGATCCTGCTGGCCACGCTGAAGGTCCTCTCCCTGCTTTGGCTTCTCTAC
TATGTGGCAAGCACCACCCGCCGACCACACGCCGTGCTCTACCAAGATCCCCACGCGGGGCCCC
TCTGGGTGCGGGGTTCCCTAGTGCTCTTCGGCAGCTGCACCTTCTGCCTCAACATCTTCCGAGT
GGGCTACGATGTGAGCCACATCCGCTGCAAGTCACAGCTGGACCTTGTCTTCTCTGTCATCGAG
ATGGTCTTCATCGGCGTCCAGACCTGGGTGCTCTGGAAACACTGCAAAGACTGTGTTCGGGTCC
AGACCAACTTCACTAGGTGTGGCCTGATGCTGACCCTGGCCACAAACCTGCTGCTGTGGGTTCT
GGCCGTTACCAATGACTCCATGCACCGAGAGATCGAAGCTGAGCTTGGCATCCTCATGGAAAAA
TCCACAGGCAATGAGACCAACACCTGTCTGTGCCTCAATGCCACCGCGTGTGAAGCTTTCCGGA
GAGGCTTCCTGATGCTCTACCCCTTCAGCACTGAGTACTGCCTCATCTGCTGTGCTGTGCTGTT
TGTCATGTGGAAGAACGTGGGCCGCCACGTGGCACCCCACATGGGTGCCCACCCTGCCACCGCA
CCCTTCCACCTGCACGGGGCCATCTTCGGGCCGCTGCTGGGCCTGCTGGTGCTGCTGGCAGGTG
TGTGCGTCTTTGTGCTCTTCCAAATCGAGGCCAGTGGCCCTGCCATTGCTTGCCAGTACTTCAC
CCTCTACTATGCCTTCTATGTGGCTGTGCTGCCCACCATGAGTCTGGCGTGCCTGGCGGGCACA
GCCATACACGGGCTGGAGGAGAGAGAGCTGGACACGGTCAAGAACCCTACCCGCAGCCTGGATG
TGGTGCTGCTAATGGGTGCTGCACTGGGCCAGATGGGCATCGCCTATTTCTCCATCGTGGCCAT
TGTGGCCAAGCGCCCGCATGAGCTGCTCAACCGCCTCATCCTGGCCTACTCGCTGCTGCTCATC
CTGCAGCACATCGCTCAGAACCTCTTCATCATCGAGGGCCTGCACCGGCGCCCACTCTGGGAGA
CAGTTCCCGAGGGCCTGGCAGGAAAGCAGGAGGCTGAGCCTCCCCGCAGAGGCTCCTTGCTGGA
GCTGGGCCAGGGCCTGCAGCGGGCCTCACTGGCCTACATCCACTCCTACAGCCACCTCAACTGG
AAGCGGAGGGCACTCAAGGAGATCTCACTCTTCCTCATCCTCTGCAATATCACACTGTGGATGA
TGCCTGCATTTGGCATACACCCGGAGTTTGAGAACGGGCTAGAAAAGGATTTCTACGGCTACCA
GATATGGTTCGCCATCGTCAACTTCGGCCTGCCTCTGGGGGTCTTCTACCGCATGCACTCTGTG
GGAGGCCTGGTGGAGGTCTACCTGGGGGCCTGAGGCTGCCCACCCCCGGCAGAACCTCGAAGTG
CCAAGGTGGGGAAGATGGTAGCCCAGAGTCTCTGAGCAGATGCCTCATTCTGAGGTGCCGAGAC
CAGCCTGAGGCTCTCAAGGCCTCCTGCTCCCCAGAGCCTCACTGAAGGGGAGGGCACTGCCTAG
AGCCAGAGGCCAACAGCAGGGGCCTGGACACTGAGCTTCTGATGCCCACGGCCAGGCCTGGGCA
CATGCCTGCCCCCTGCCTTCCCACCACGATCCGCAAGCCAAGGGTGCACCCCAGGAGGCTGGCA
GGGGCCCCCTCACGGCTACTCTGTGGGAGGGTCAGACCTACATGACCGAGTCTGGGGAGCTTGG
CGAGGGGCACCCCTCTCCAGCCAGGACTCAGAGGTCTGCCCCCTGCTGCGAGAAGAGCACCTGG
TCCAAGTGTGGCTCTGGACATCCTCAGAGCTCAGAGCTCCGAGCTAGGAGGCCAGCTCCTCTCC
CCACACACCTGTCTCCTAATGAGCTCATTCATTGGCTGCCAGGCAGGGTTCAACAGCTCTCTCC
TGCCGCATAAACCCTATTTGTTTAATGGATTGC

hide sequence

RefSeq Acc Id:

NM_178233 ⟹ NP_839947

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	74,935,802 - 74,949,992 (+)	NCBI
GRCh37	17	72,931,897 - 72,946,087 (+)	NCBI
Build 36	17	70,443,492 - 70,457,106 (+)	NCBI Archive
Celera	17	69,525,122 - 69,538,736 (+)	RGD
HuRef	17	68,342,265 - 68,356,433 (+)	NCBI
CHM1_1	17	72,996,714 - 73,010,911 (+)	NCBI
T2T-CHM13v2.0	17	75,827,605 - 75,841,795 (+)	NCBI

Sequence:

show sequence

ATGGGCCGCGGAGCCCGAGCGGCGGCTGCGCAGTCCCGCTGGGGGAGGGCGTCGCGGGCATCGG
TCTCACCTGGACGGACGATCCGCTCAGCGCCCGCAGTCGGTGAAGCACAGGAGACTGAAGCAGC
CCCGGAGAAGGAGAACCGAGTGGATGTGGGGGCCGAGGAGAGAGCGGCCGCCACCCGGCCCCGG
CAGAAGTCCTGGCTGGTGAGGCATTTCTCTCTGCTGCTGCGGCGGGACCGGCAGGCCCAGAAGG
CTGGACAACTCTTCTCGGGGCTCCTGGCCCTGAATGTGGTGTTCCTGGGTGGCGCCTTCATCTG
CAGCATGATCTTCAACAAGGTGGCCGTCACTCTGGGTGACGTGTGGATCCTGCTGGCCACGCTG
AAGGTCCTCTCCCTGCTTTGGCTTCTCTACTATGTGGCAAGCACCACCCGCCGACCACACGCCG
TGCTCTACCAAGATCCCCACGCGGGGCCCCTCTGGGTGCGGGGTTCCCTAGTGCTCTTCGGCAG
CTGCACCTTCTGCCTCAACATCTTCCGAGTGGGCTACGATGTGAGCCACATCCGCTGCAAGTCA
CAGCTGGACCTTGTCTTCTCTGTCATCGAGATGGTCTTCATCGGCGTCCAGACCTGGGTGCTCT
GGAAACACTGCAAAGACTGTGTTCGGGTCCAGACCAACTTCACTAGGTGTGGCCTGATGCTGAC
CCTGGCCACAAACCTGCTGCTGTGGGTTCTGGCCGTTACCAATGACTCCATGCACCGAGAGATC
GAAGCTGAGCTTGGCATCCTCATGGAAAAATCCACAGGCAATGAGACCAACACCTGTCTGTGCC
TCAATGCCACCGCGTGTGAAGCTTTCCGGAGAGGCTTCCTGATGCTCTACCCCTTCAGCACTGA
GTACTGCCTCATCTGCTGTGCTGTGCTGTTTGTCATGTGGAAGAACGTGGGCCGCCACGTGGCA
CCCCACATGGGTGCCCACCCTGCCACCGCACCCTTCCACCTGCACGGGGCCATCTTCGGGCCGC
TGCTGGGCCTGCTGGTGCTGCTGGCAGGTGTGTGCGTCTTTGTGCTCTTCCAAATCGAGGCCAG
TGGCCCTGCCATTGCTTGCCAGTACTTCACCCTCTACTATGCCTTCTATGTGGCTGTGCTGCCC
ACCATGAGTCTGGCGTGCCTGGCGGGCACAGCCATACACGGGCTGGAGGAGAGAGAGCTGGACA
CGGTCAAGAACCCTACCCGCAGCCTGGATGTGGTGCTGCTAATGGGTGCTGCACTGGGCCAGAT
GGGCATCGCCTATTTCTCCATCGTGGCCATTGTGGCCAAGCGCCCGCATGAGCTGCTCAACCGC
CTCATCCTGGCCTACTCGCTGCTGCTCATCCTGCAGCACATCGCTCAGAACCTCTTCATCATCG
AGGGCCTGCACCGGCGCCCACTCTGGGAGACAGTTCCCGAGGGCCTGGCAGGAAAGCAGGAGGC
TGAGCCTCCCCGCAGAGGCTCCTTGCTGGAGCTGGGCCAGGGCCTGCAGCGGGCCTCACTGGCC
TACATCCACTCCTACAGCCACCTCAACTGGAAGCGGAGGGCACTCAAGGAGATCTCACTCTTCC
TCATCCTCTGCAATATCACACTGTGGATGATGCCTGCATTTGGCATACACCCGGAGTTTGAGAA
CGGGCTAGAAAAGGATTTCTACGGCTACCAGATATGGTTCGCCATCGTCAACTTCGGCCTGCCT
CTGGGGGTCTTCTACCGCATGCACTCTGTGGGAGGCCTGGTGGAGGTCTACCTGGGGGCCTGAG
GCTGCCCACCCCCGGCAGAACCTCGAAGTGCCAAGGTGGGGAAGATGGTAGCCCAGAGTCTCTG
AGCAGATGCCTCATTCTGAGGTGCCGAGACCAGCCTGAGGCTCTCAAGGCCTCCTGCTCCCCAG
AGCCTCACTGAAGGGGAGGGCACTGCCTAGAGCCAGAGGCCAACAGCAGGGGCCTGGACACTGA
GCTTCTGATGCCCACGGCCAGGCCTGGGCACATGCCTGCCCCCTGCCTTCCCACCACGATCCGC
AAGCCAAGGGTGCACCCCAGGAGGCTGGCAGGGGCCCCCTCACGGCTACTCTGTGGGAGGGTCA
GACCTACATGACCGAGTCTGGGGAGCTTGGCGAGGGGCACCCCTCTCCAGCCAGGACTCAGAGG
TCTGCCCCCTGCTGCGAGAAGAGCACCTGGTCCAAGTGTGGCTCTGGACATCCTCAGAGCTCAG
AGCTCCGAGCTAGGAGGCCAGCTCCTCTCCCCACACACCTGTCTCCTAATGAGCTCATTCATTG
GCTGCCAGGCAGGGTTCAACAGCTCTCTCCTGCCGCATAAACCCTATTTGTTTAATGGATTGC

hide sequence

RefSeq Acc Id:

XM_011524744 ⟹ XP_011523046

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	74,935,898 - 74,949,992 (+)	NCBI

Sequence:

show sequence

GCTGGGGGAGGGCGTCGCGGGCATCGGTCTCACCTGGACGGACGATCCGCTCAGCGCCCGCAGT
CGGTGGTTAGCCCACGGCGATGCCTCTCCCGGCCTCAGAAGCACAGGAGACTGAAGCAGCCCCG
GAGAAGGAGAACCGAGTGGATGTGGGGGCCGAGGAGAGAGCGGCCGCCACCCGGCCCCGGCAGA
AGTCCTGGCTGGTGAGGCATTTCTCTCTGCTGCTGCGGCGGGACCGGCAGGCCCAGAAGGCTGG
ACAACTCTTCTCGGGGCTCCTGGCCCTGAATGTGGTGTTCCTGGGTGGCGCCTTCATCTGCAGC
ATGATCTTCAACAAGGTGGCCGTCACTCTGGGTGACGTGTGGATCCTGCTGGCCACGCTGAAGG
TCCTCTCCCTGCTTTGGCTTCTCTACTATGTGGCAAGCACCACCCGCCGACCACACGCCGTGCT
CTACCAAGATCCCCACGCGGGGCCCCTCTGGGTGCGGGGTTCCCTAGTGCTCTTCGGCAGCTGC
ACCTTCTGCCTCAACATCTTCCGAGTGGGCTACGATGTGAGCCACATCCGCTGCAAGTCACAGC
TGGACCTTGTCTTCTCTGTCATCGAGATGGTCTTCATCGGCGTCCAGACCTGGGTGCTCTGGAA
ACACTGCAAAGACTGTGTTCGGGTCCAGACCAACTTCACTAGGTGTGGCCTGATGCTGACCCTG
GCCACAAACCTGCTGCTGTGGGTTCTGGCCGTTACCAATGACTCCATGCACCGAGAGATCGAAG
CTGAGCTTGGCATCCTCATGGAAAAATCCACAGGCAATGAGACCAACACCTGTCTGTGCCTCAA
TGCCACCGCGTGTGAAGCTTTCCGGAGAGGCTTCCTGATGCTCTACCCCTTCAGCACTGAGTAC
TGCCTCATCTGCTGTGCTGTGCTGTTTGTCATGTGGAAGAACGTGGGCCGCCACGTGGCACCCC
ACATGGGTGCCCACCCTGCCACCGCACCCTTCCACCTGCACGGGGCCATCTTCGGGCCGCTGCT
GGGCCTGCTGGTGCTGCTGGCAGGTGTGTGCGTCTTTGTGCTCTTCCAAATCGAGGCCAGTGGC
CCTGCCATTGCTTGCCAGTACTTCACCCTCTACTATGCCTTCTATGTGGCTGTGCTGCCCACCA
TGAGTCTGGCGTGCCTGGCGGGCACAGCCATACACGGGCTGGAGGAGAGAGAGCTGGACACGGT
CAAGAACCCTACCCGCAGCCTGGATGTGGTGCTGCTAATGGGTGCTGCACTGGGCCAGATGGGC
ATCGCCTATTTCTCCATCGTGGCCATTGTGGCCAAGCGCCCGCATGAGCTGCTCAACCGCCTCA
TCCTGGCCTACTCGCTGCTGCTCATCCTGCAGCACATCGCTCAGAACCTCTTCATCATCGAGGG
CCTGCACCGGCGCCCACTCTGGGAGACAGTTCCCGAGGGCCTGGCAGGAAAGCAGGAGGCTGAG
CCTCCCCGCAGAGGCTCCTTGCTGGAGCTGGGCCAGGGCCTGCAGCGGGCCTCACTGGCCTACA
TCCACTCCTACAGCCACCTCAACTGGAAGCGGAGGGCACTCAAGGAGATCTCACTCTTCCTCAT
CCTCTGCAATATCACACTGTGGATGATGCCTGCATTTGGCATACACCCGGAGTTTGAGAACGGG
CTAGAAAAGGATTTCTACGGCTACCAGATATGGTTCGCCATCGTCAACTTCGGCCTGCCTCTGG
GGGTCTTCTACCGCATGCACTCTGTGGGAGGCCTGGTGGAGGTCTACCTGGGGGCCTGAGGCTG
CCCACCCCCGGCAGAACCTCGAAGTGCCAAGGTGGGGAAGATGGTAGCCCAGAGTCTCTGAGCA
GATGCCTCATTCTGAGGTGCCGAGACCAGCCTGAGGCTCTCAAGGCCTCCTGCTCCCCAGAGCC
TCACTGAAGGGGAGGGCACTGCCTAGAGCCAGAGGCCAACAGCAGGGGCCTGGACACTGAGCTT
CTGATGCCCACGGCCAGGCCTGGGCACATGCCTGCCCCCTGCCTTCCCACCACGATCCGCAAGC
CAAGGGTGCACCCCAGGAGGCTGGCAGGGGCCCCCTCACGGCTACTCTGTGGGAGGGTCAGACC
TACATGACCGAGTCTGGGGAGCTTGGCGAGGGGCACCCCTCTCCAGCCAGGACTCAGAGGTCTG
CCCCCTGCTGCGAGAAGAGCACCTGGTCCAAGTGTGGCTCTGGACATCCTCAGAGCTCAGAGCT
CCGAGCTAGGAGGCCAGCTCCTCTCCCCACACACCTGTCTCCTAATGAGCTCATTCATTGGCTG
CCAGGCAGGGTTCAACAGCTCTCTCCTGCCGCATAAACCCTATTTGTTTAATGGATTGCA

hide sequence

RefSeq Acc Id:

XM_054315947 ⟹ XP_054171922

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	75,827,701 - 75,841,795 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001258934	(Get FASTA)	NCBI Sequence Viewer
	NP_839947	(Get FASTA)	NCBI Sequence Viewer
	XP_011523046	(Get FASTA)	NCBI Sequence Viewer
	XP_054171922	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	DAA00896	(Get FASTA)	NCBI Sequence Viewer
	EAW89214	(Get FASTA)	NCBI Sequence Viewer
	EAW89215	(Get FASTA)	NCBI Sequence Viewer
	EAW89216	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000328090
	ENSP00000328090.5
GenBank Protein	Q7RTS5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_839947 ⟸ NM_178233
- Peptide Label:	isoform 1
- UniProtKB:	A0A2U3TZI1 (UniProtKB/Swiss-Prot), Q7RTS5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGRGARAAAAQSRWGRASRASVSPGRTIRSAPAVGEAQETEAAPEKENRVDVGAEERAAATRPR QKSWLVRHFSLLLRRDRQAQKAGQLFSGLLALNVVFLGGAFICSMIFNKVAVTLGDVWILLATL KVLSLLWLLYYVASTTRRPHAVLYQDPHAGPLWVRGSLVLFGSCTFCLNIFRVGYDVSHIRCKS QLDLVFSVIEMVFIGVQTWVLWKHCKDCVRVQTNFTRCGLMLTLATNLLLWVLAVTNDSMHREI EAELGILMEKSTGNETNTCLCLNATACEAFRRGFLMLYPFSTEYCLICCAVLFVMWKNVGRHVA PHMGAHPATAPFHLHGAIFGPLLGLLVLLAGVCVFVLFQIEASGPAIACQYFTLYYAFYVAVLP TMSLACLAGTAIHGLEERELDTVKNPTRSLDVVLLMGAALGQMGIAYFSIVAIVAKRPHELLNR LILAYSLLLILQHIAQNLFIIEGLHRRPLWETVPEGLAGKQEAEPPRRGSLLELGQGLQRASLA YIHSYSHLNWKRRALKEISLFLILCNITLWMMPAFGIHPEFENGLEKDFYGYQIWFAIVNFGLP LGVFYRMHSVGGLVEVYLGA hide sequence

RefSeq Acc Id:

NP_001258934 ⟸ NM_001272005

- Peptide Label:

isoform 2

- Sequence:

show sequence

MPLPASAPAEATPMPSSEAQETEAAPEKENRVDVGAEERAAATRPRQKSWLVRHFSLLLRRDRQ
AQKAGQLFSGLLALNVVFLGGAFICSMIFNKVAVTLGDVWILLATLKVLSLLWLLYYVASTTRR
PHAVLYQDPHAGPLWVRGSLVLFGSCTFCLNIFRVGYDVSHIRCKSQLDLVFSVIEMVFIGVQT
WVLWKHCKDCVRVQTNFTRCGLMLTLATNLLLWVLAVTNDSMHREIEAELGILMEKSTGNETNT
CLCLNATACEAFRRGFLMLYPFSTEYCLICCAVLFVMWKNVGRHVAPHMGAHPATAPFHLHGAI
FGPLLGLLVLLAGVCVFVLFQIEASGPAIACQYFTLYYAFYVAVLPTMSLACLAGTAIHGLEER
ELDTVKNPTRSLDVVLLMGAALGQMGIAYFSIVAIVAKRPHELLNRLILAYSLLLILQHIAQNL
FIIEGLHRRPLWETVPEGLAGKQEAEPPRRGSLLELGQGLQRASLAYIHSYSHLNWKRRALKEI
SLFLILCNITLWMMPAFGIHPEFENGLEKDFYGYQIWFAIVNFGLPLGVFYRMHSVGGLVEVYL
GA

hide sequence

RefSeq Acc Id:

XP_011523046 ⟸ XM_011524744

- Peptide Label:

isoform X1

- Sequence:

show sequence

MPLPASEAQETEAAPEKENRVDVGAEERAAATRPRQKSWLVRHFSLLLRRDRQAQKAGQLFSGL
LALNVVFLGGAFICSMIFNKVAVTLGDVWILLATLKVLSLLWLLYYVASTTRRPHAVLYQDPHA
GPLWVRGSLVLFGSCTFCLNIFRVGYDVSHIRCKSQLDLVFSVIEMVFIGVQTWVLWKHCKDCV
RVQTNFTRCGLMLTLATNLLLWVLAVTNDSMHREIEAELGILMEKSTGNETNTCLCLNATACEA
FRRGFLMLYPFSTEYCLICCAVLFVMWKNVGRHVAPHMGAHPATAPFHLHGAIFGPLLGLLVLL
AGVCVFVLFQIEASGPAIACQYFTLYYAFYVAVLPTMSLACLAGTAIHGLEERELDTVKNPTRS
LDVVLLMGAALGQMGIAYFSIVAIVAKRPHELLNRLILAYSLLLILQHIAQNLFIIEGLHRRPL
WETVPEGLAGKQEAEPPRRGSLLELGQGLQRASLAYIHSYSHLNWKRRALKEISLFLILCNITL
WMMPAFGIHPEFENGLEKDFYGYQIWFAIVNFGLPLGVFYRMHSVGGLVEVYLGA

hide sequence

RefSeq Acc Id:

ENSP00000328090 ⟸ ENST00000328801

RefSeq Acc Id:	XP_054171922 ⟸ XM_054315947
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q7RTS5-F1-model_v2	AlphaFold	Q7RTS5	1-596	view protein structure

Promoters

RGD ID:

7236247

Promoter ID:

EPDNEW_H23869

Type:

initiation region

Name:

OTOP3_1

Description:

otopetrin 3

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	17	74,935,898 - 74,935,958	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19658	AgrOrtholog
COSMIC	OTOP3	COSMIC
Ensembl Genes	ENSG00000182938	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000328801	ENTREZGENE
	ENST00000328801.6	UniProtKB/Swiss-Prot
GTEx	ENSG00000182938	GTEx
HGNC ID	HGNC:19658	ENTREZGENE
Human Proteome Map	OTOP3	Human Proteome Map
InterPro	Otopetrin	UniProtKB/Swiss-Prot
	Znf_C2H2_type	UniProtKB/Swiss-Prot
KEGG Report	hsa:347741	UniProtKB/Swiss-Prot
NCBI Gene	347741	ENTREZGENE
OMIM	607828	OMIM
PANTHER	PROTON CHANNEL OTOP3	UniProtKB/Swiss-Prot
	PTHR21522	UniProtKB/Swiss-Prot
Pfam	Otopetrin	UniProtKB/Swiss-Prot
PharmGKB	PA134888566	PharmGKB
UniProt	A0A2U3TZI1	ENTREZGENE
	OTOP3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A0A2U3TZI1	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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