Oca2 (OCA2 melanosomal transmembrane protein) - Rat Genome Database

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Gene: Oca2 (OCA2 melanosomal transmembrane protein) Rattus norvegicus
Analyze
Symbol: Oca2
Name: OCA2 melanosomal transmembrane protein
RGD ID: 2318412
Description: Predicted to enable intracellular chloride channel activity. Predicted to be involved in lysosomal lumen pH elevation; melanin biosynthetic process from tyrosine; and melanocyte differentiation. Predicted to act upstream of or within cell population proliferation; developmental pigmentation; and spermatid development. Predicted to be located in endoplasmic reticulum membrane; endosome membrane; and lysosomal membrane. Predicted to be active in melanosome membrane. Human ortholog(s) of this gene implicated in actinic keratosis; oculocutaneous albinism type II; pigmentation disease; skin cancer (multiple); and squamous cell carcinoma. Orthologous to human OCA2 (OCA2 melanosomal transmembrane protein); INTERACTS WITH 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: LOC100365773; oculocutaneous albinism II; p; pink-eyed dilution-like; uncharacterized protein LOC100365773
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Is Marker For: Strains:   KHR/Kyo   KHR/Kyo-/+   KHR/Kyo-/-  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81116,252,026 - 116,581,838 (+)NCBIGRCr8
mRatBN7.21107,116,278 - 107,446,093 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1107,116,278 - 107,446,074 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1112,507,382 - 112,829,919 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01120,979,244 - 121,301,798 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01114,228,212 - 114,550,755 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01114,661,970 - 114,987,433 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1114,679,537 - 114,987,433 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01115,720,909 - 115,991,040 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01115,683,593 - 115,683,857 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1101,324,224 - 101,633,838 (+)NCBICelera
Cytogenetic Map1q22NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. Duffy DL, etal., J Invest Dermatol. 2010 Feb;130(2):520-8. doi: 10.1038/jid.2009.258. Epub 2009 Aug 27.
2. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Durham-Pierre D, etal., Nat Genet. 1994 Jun;7(2):176-9.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. Han J, etal., Cancer Res. 2011 Mar 1;71(5):1533-9. doi: 10.1158/0008-5472.CAN-10-1818. Epub 2011 Jan 26.
5. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Jannot AS, etal., Eur J Hum Genet. 2005 Aug;13(8):913-20.
6. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. Jaworek TJ, etal., Orphanet J Rare Dis. 2012 Jun 26;7:44. doi: 10.1186/1750-1172-7-44.
7. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. Johanson HC, etal., J Hum Genet. 2010 Feb;55(2):103-11. doi: 10.1038/jhg.2009.130. Epub 2009 Dec 18.
8. The rat pink-eyed dilution (p) mutation: an identical intragenic deletion in pink-eye dilute-coat strains and several Wistar-derived albino strains. Kuramoto T, etal., Mamm Genome. 2005 Sep;16(9):712-9. Epub 2005 Oct 20.
9. In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Manga P, etal., Am J Hum Genet. 2001 Mar;68(3):782-7. Epub 2001 Feb 9.
10. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Nan H, etal., Int J Cancer. 2009 Aug 15;125(4):909-17. doi: 10.1002/ijc.24327.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. Comprehensive gene review and curation RGD comprehensive gene curation
15. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Yi Z, etal., Am J Hum Genet. 2003 Jan;72(1):62-72. Epub 2002 Dec 5.
16. Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations. Yoshizawa J, etal., J Dermatol. 2014 Apr;41(4):296-302. doi: 10.1111/1346-8138.12432. Epub 2014 Mar 12.
Additional References at PubMed
PMID:2379821   PMID:7317942   PMID:7665913   PMID:9548375   PMID:11756244   PMID:13943454   PMID:17247639   PMID:19116314  


Genomics

Comparative Map Data
Oca2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81116,252,026 - 116,581,838 (+)NCBIGRCr8
mRatBN7.21107,116,278 - 107,446,093 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1107,116,278 - 107,446,074 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1112,507,382 - 112,829,919 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01120,979,244 - 121,301,798 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01114,228,212 - 114,550,755 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01114,661,970 - 114,987,433 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1114,679,537 - 114,987,433 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01115,720,909 - 115,991,040 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01115,683,593 - 115,683,857 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1101,324,224 - 101,633,838 (+)NCBICelera
Cytogenetic Map1q22NCBI
OCA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381527,719,008 - 28,099,315 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1527,754,875 - 28,099,315 (-)EnsemblGRCh38hg38GRCh38
GRCh371528,000,021 - 28,344,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361525,673,616 - 26,018,053 (-)NCBINCBI36Build 36hg18NCBI36
Build 341525,673,627 - 26,018,061NCBI
Celera156,159,864 - 6,486,885 (-)NCBICelera
Cytogenetic Map15q12-q13.1NCBI
HuRef156,126,617 - 6,454,008 (-)NCBIHuRef
CHM1_11527,949,611 - 28,294,279 (-)NCBICHM1_1
T2T-CHM13v2.01525,461,432 - 25,841,842 (-)NCBIT2T-CHM13v2.0
Oca2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39755,889,341 - 56,186,266 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl755,889,508 - 56,186,266 (+)EnsemblGRCm39 Ensembl
GRCm38756,239,593 - 56,536,518 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl756,239,760 - 56,536,518 (+)EnsemblGRCm38mm10GRCm38
MGSCv37763,495,141 - 63,791,887 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36756,107,790 - 56,404,536 (+)NCBIMGSCv36mm8
Celera753,578,935 - 53,870,549 (+)NCBICelera
Cytogenetic Map7B5NCBI
cM Map733.44NCBI
Oca2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555331,522,795 - 1,797,116 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555331,522,878 - 1,796,673 (+)NCBIChiLan1.0ChiLan1.0
OCA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2167,182,788 - 7,564,648 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11510,824,412 - 11,169,708 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0151,811,728 - 2,192,018 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11525,181,417 - 25,523,703 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1525,181,386 - 25,523,774 (-)Ensemblpanpan1.1panPan2
OCA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1332,361,825 - 32,713,631 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl332,361,517 - 32,713,572 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha334,967,334 - 35,404,320 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0332,621,251 - 33,055,320 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl332,621,221 - 33,055,306 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1332,155,153 - 32,595,979 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0332,404,163 - 32,842,419 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0332,515,314 - 32,948,430 (+)NCBIUU_Cfam_GSD_1.0
Oca2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640120,764,374 - 121,104,104 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647138,612,427 - 38,952,199 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647138,612,450 - 38,952,150 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OCA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1556,657,616 - 56,869,918 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11556,657,648 - 56,869,920 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215156,879,489 - 156,880,169 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21563,929,054 - 64,060,069 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OCA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12654,022,346 - 54,429,991 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2654,039,197 - 54,352,774 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605436,822,407 - 37,218,415 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Oca2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248962,163,468 - 2,415,432 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248962,163,043 - 2,432,016 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Oca2
1377 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:29
Count of miRNA genes:27
Interacting mature miRNAs:28
Transcripts:ENSRNOT00000019498
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.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
61344Bp29Blood pressure QTL 297.5arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)178350581123350581Rat
61346Rf2Renal disease susceptibility QTL 23.7urine protein amount (VT:0005160)urine protein level (CMO:0000591)199267916144267916Rat
61370Mcs3Mammary carcinoma susceptibility QTL 32.15mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1102268556147268556Rat
61399Tcat1Tongue tumor resistance QTL 13.3tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 5 mm (CMO:0001879)199267916144267916Rat
70209Niddm23Non-insulin dependent diabetes mellitus QTL 232.82blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)194494440198324465Rat
70225Bp58Blood pressure QTL 583.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132356093162846471Rat
724521Uae1Urinary albumin excretion QTL 13.80.0001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)190508614173018436Rat
724529Cm16Cardiac mass QTL 162.7heart mass (VT:0007028)calculated heart weight (CMO:0000073)187580395150700247Rat
724567Tcas6Tongue tumor susceptibility QTL 66.85tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)192948896144267916Rat
631569Bp93Blood pressure QTL 930.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1106047847121834139Rat
631688Hcas2Hepatocarcinoma susceptibility QTL 230.0001liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)15925874115540829Rat
731168Bp154Blood pressure QTL 1543.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)194642644214537671Rat
738022Anxrr13Anxiety related response QTL 134.60.00039locomotor behavior trait (VT:0001392)number of 20 x 20 cm floor squares crossed into, out of or within a discrete space in an experimental apparatus (CMO:0001514)183547917128547917Rat
631496Bp97Blood pressure QTL 973.08arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1106047847151047847Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)149393289199050459Rat
1300121Hrtrt1Heart rate QTL 13.7heart pumping trait (VT:2000009)heart rate (CMO:0000002)165789093115540829Rat
1358359Sradr1Stress Responsive Adrenal Weight QTL 14.74adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)130882023123479925Rat
1331749Hrtrt11Heart rate QTL 112.973heart pumping trait (VT:2000009)heart rate (CMO:0000002)194494440198211706Rat
1331751Bp199Blood pressure QTL 1993.60022arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)194494440181830018Rat
1331793Bp200Blood pressure QTL 2003.71601arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)194494440172949803Rat
1331800Scl25Serum cholesterol level QTL 253.013blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)194494440117601394Rat
1300153Bp171Blood pressure QTL 1713.37arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)190664883143200202Rat
1302788Scl19Serum cholesterol QTL 194.60.001blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)190532338123479925Rat
1354591Cm36Cardiac mass QTL 364.1heart left ventricle mass (VT:0007031)calculated heart weight (CMO:0000073)1102813953201278233Rat
1354606Bp246Blood pressure QTL 2463.6arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)1102813953218753816Rat
1354615Cm32Cardiac mass QTL 325.2heart left ventricle mass (VT:0007031)heart left ventricle wet weight (CMO:0000071)1102813953201278233Rat
1354623Rf46Renal function QTL 463.8blood creatinine amount (VT:0005328)plasma creatinine level (CMO:0000537)1102813953151162766Rat
1358192Ept13Estrogen-induced pituitary tumorigenesis QTL 133.4pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)177494165122494165Rat
1358902Bw47Body weight QTL 471.67body mass (VT:0001259)body weight (CMO:0000012)190508614180359386Rat
1582234Gluco18Glucose level QTL 183.40.0003blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)178479925123479925Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)149393172159356837Rat
1641897Alcrsp1Alcohol response QTL 1response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)1100979852145979852Rat
1578780Cm52Cardiac mass QTL 523.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)181591954219808434Rat
2293142Bp314Blood pressure QTL 314arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)192184926137184926Rat
2298545Neuinf8Neuroinflammation QTL 84.6nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)157336763151090257Rat
2313051Bss57Bone structure and strength QTL 573.70.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)143284731118944897Rat
2313059Bss55Bone structure and strength QTL 553.20.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313072Bss53Bone structure and strength QTL 534.30.0001tibia length (VT:0004357)tibia length (CMO:0000450)143284731118944897Rat
2313078Bss54Bone structure and strength QTL 543.50.0001tibia area (VT:1000281)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313083Bmd74Bone mineral density QTL 7440.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)182174743118944897Rat
2313094Bss58Bone structure and strength QTL 583.70.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)143284731118944897Rat
2313098Bmd70Bone mineral density QTL 703.60.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)143284731118944897Rat
2313099Bss56Bone structure and strength QTL 562.40.0001tibia size trait (VT:0100001)tibia midshaft endosteal cross-sectional area (CMO:0001716)143284731118944897Rat
2303591Gluco41Glucose level QTL 412blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1102168504147168504Rat
2313402Anxrr24Anxiety related response QTL 24aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)148963584144267916Rat
2317833Alcrsp19Alcohol response QTL 1912.40.001response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)1100979852145979852Rat
4889494Scort2Serum corticosterone level QTL 24.2blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)180592172125592172Rat
8655649Arrd1Age-related retinal degeneration QTL 14.89retinal layer morphology trait (VT:0003727)percentage of study population developing retinopathy during a period of time (CMO:0002453)1100357752183970443Rat
9590300Scort16Serum corticosterone level QTL 164.390.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)1103111621148111621Rat
7411712Strs4Sensitivity to stroke QTL 48.7cerebrum integrity trait (VT:0010549)percentage of study population developing cerebrovascular lesions during a period of time (CMO:0000932)178430536123430536Rat
7421628Bp361Blood pressure QTL 3610.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)166023617118608521Rat
8694370Bw154Body weight QTL 1548.910.001body lean mass (VT:0010483)lean tissue morphological measurement (CMO:0002184)1103111621148111621Rat
10054135Gmadr2Adrenal mass QTL 21.970.0129adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)177857876122857876Rat
10059597Bp377Blood pressure QTL 3773.420.025arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132737458199368955Rat

Markers in Region
D1Rat31  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21107,191,753 - 107,191,933 (+)MAPPERmRatBN7.2
Rnor_6.01114,739,351 - 114,739,530NCBIRnor6.0
Rnor_5.01115,742,752 - 115,742,931UniSTSRnor5.0
RGSC_v3.41107,734,738 - 107,734,918RGDRGSC3.4
RGSC_v3.41107,734,739 - 107,734,918UniSTSRGSC3.4
RGSC_v3.11107,813,082 - 107,813,261RGD
Celera1101,398,617 - 101,398,790UniSTS
RH 3.4 Map1959.0RGD
RH 3.4 Map1959.0UniSTS
SHRSP x BN Map153.8UniSTS
SHRSP x BN Map153.8RGD
FHH x ACI Map154.46RGD
Cytogenetic Map1q22UniSTS
AI007682  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21107,446,336 - 107,446,430 (+)MAPPERmRatBN7.2
Rnor_6.01114,987,677 - 114,987,770NCBIRnor6.0
Rnor_5.01115,991,284 - 115,991,377UniSTSRnor5.0
RGSC_v3.41107,999,594 - 107,999,687UniSTSRGSC3.4
Celera1101,634,082 - 101,634,175UniSTS
CH04h02  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21107,419,147 - 107,420,000 (+)MAPPERmRatBN7.2
Rnor_6.01114,960,553 - 114,961,405NCBIRnor6.0
Rnor_5.01115,964,682 - 115,965,534UniSTSRnor5.0
Celera1101,606,775 - 101,607,627UniSTS


Related Rat Strains
The following Strains have been annotated to Oca2
KHR/Kyo     KHR/Kyo-/+     KHR/Kyo-/-    


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 appendage
High
Medium 7 18 24
Low 1 23 27 24 5 24 1 1 60 10 10 9 1
Below cutoff 1 20 23 17 12 17 7 7 14 5 3 2 7

Sequence


RefSeq Acc Id: ENSRNOT00000019498   ⟹   ENSRNOP00000019498
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1107,116,278 - 107,446,074 (+)Ensembl
Rnor_6.0 Ensembl1114,679,537 - 114,987,433 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000108070   ⟹   ENSRNOP00000096097
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1107,116,278 - 107,446,074 (+)Ensembl
RefSeq Acc Id: NM_001271493   ⟹   NP_001258422
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81116,252,026 - 116,581,838 (+)NCBI
mRatBN7.21107,116,278 - 107,446,093 (+)NCBI
Rnor_6.01114,661,970 - 114,987,433 (+)NCBI
Rnor_5.01115,683,593 - 115,683,857 (+)NCBI
Rnor_5.01115,720,909 - 115,991,040 (+)NCBI
Celera1101,324,224 - 101,633,838 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001258422 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAE03195 (Get FASTA)   NCBI Sequence Viewer  
  EDL86453 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000019498
  ENSRNOP00000019498.3
  ENSRNOP00000096097.1
RefSeq Acc Id: NP_001258422   ⟸   NM_001271493
- UniProtKB: Q4LEV3 (UniProtKB/TrEMBL),   A6KD35 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000019498   ⟸   ENSRNOT00000019498
RefSeq Acc Id: ENSRNOP00000096097   ⟸   ENSRNOT00000108070
Protein Domains
Citrate transporter-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4LEV3-F1-model_v2 AlphaFold Q4LEV3 1-842 view protein structure

Transcriptome

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


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:2318412 AgrOrtholog
BioCyc Gene G2FUF-59450 BioCyc
BioCyc Pathway GLYCINE-SYN2-PWY [glycine biosynthesis II] BioCyc
  GLYCLEAV-PWY [glycine cleavage] BioCyc
BioCyc Pathway Image GLYCINE-SYN2-PWY BioCyc
  GLYCLEAV-PWY BioCyc
Ensembl Genes ENSRNOG00000014465 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000019498 ENTREZGENE
  ENSRNOT00000019498.4 UniProtKB/TrEMBL
  ENSRNOT00000108070.1 UniProtKB/TrEMBL
InterPro Divalent_ion_symporter UniProtKB/TrEMBL
KEGG Report rno:100365773 UniProtKB/TrEMBL
NCBI Gene 100365773 ENTREZGENE
PANTHER P PROTEIN UniProtKB/TrEMBL
  P PROTEIN UniProtKB/TrEMBL
Pfam CitMHS UniProtKB/TrEMBL
PhenoGen Oca2 PhenoGen
RatGTEx ENSRNOG00000014465 RatGTEx
UniProt A0A8I6B3Q4_RAT UniProtKB/TrEMBL
  A6KD35 ENTREZGENE, UniProtKB/TrEMBL
  Q4LEV3 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-25 Oca2  OCA2 melanosomal transmembrane protein  Oca2  oculocutaneous albinism II  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2013-08-08 Oca2  oculocutaneous albinism II  LOC100365773  pink-eyed dilution-like  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2010-05-05 LOC100365773  pink-eyed dilution-like      Symbol and Name status set to provisional 70820 PROVISIONAL