Oca2 (oculocutaneous albinism II) - Rat Genome Database

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Gene: Oca2 (oculocutaneous albinism II) Mus musculus
Analyze
Symbol: Oca2
Name: oculocutaneous albinism II
RGD ID: 11027
MGI Page MGI
Description: Predicted to enable intracellular chloride channel activity. Acts upstream of or within several processes, including melanin biosynthetic process; melanocyte differentiation; and spermatid development. Predicted to be located in endoplasmic reticulum membrane; endosome membrane; and lysosomal membrane. Predicted to be active in melanosome membrane. Is expressed in brain and eye. Used to study oculocutaneous albinism. 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).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: D7H15S1; D7H15S12; D7Icr28RN; D7Nic1; melanocyte-specific transporter protein; Oca2; p; p; pink-eyed dilution protein
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
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
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
abnormal acrosome morphology  (IAGP)
abnormal choroid melanin granule morphology  (IAGP)
abnormal circulating cholesterol level  (IAGP)
abnormal circulating HDL cholesterol level  (IAGP)
abnormal coat/hair pigmentation  (IAGP)
abnormal eye pigmentation  (IAGP)
abnormal fertility/fecundity  (IEA)
abnormal gait  (IEA)
abnormal gametes  (IAGP)
abnormal gametogenesis  (IAGP)
abnormal glucose homeostasis  (IAGP)
abnormal hair cycle  (IEA)
abnormal hair follicle melanin granule distribution  (IAGP)
abnormal hair follicle melanin granule morphology  (IAGP)
abnormal hair follicle melanin granule shape  (IAGP)
abnormal hair follicle melanocyte morphology  (IEA)
abnormal involuntary movement  (IAGP)
abnormal lipid homeostasis  (IAGP)
abnormal maternal nurturing  (IAGP)
abnormal melanogenesis  (IAGP)
abnormal melanosome morphology  (IAGP)
abnormal motor capabilities/coordination/movement  (IEA)
abnormal motor coordination/balance  (IAGP)
abnormal NK cell physiology  (IEA)
abnormal oogenesis  (IAGP)
abnormal postnatal growth/weight/body size  (IEA)
abnormal pup retrieval  (IAGP)
abnormal sperm flagellum morphology  (IAGP)
abnormal sperm head morphology  (IAGP)
abnormal spermatid morphology  (IAGP)
abnormal spermatogenesis  (IAGP)
abnormal spermiogenesis  (IAGP)
absent eye pigmentation  (IEA)
cleft palate  (IAGP)
darkened coat color  (IEA)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased ear pigmentation  (IEA)
decreased eye pigmentation  (IAGP)
decreased litter size  (IAGP)
decreased male germ cell number  (IAGP)
decreased skin pigmentation  (IEA)
decreased tail pigmentation  (IEA)
delayed hair regrowth  (IEA)
diluted coat color  (IAGP)
enlarged sperm head  (IAGP)
female infertility  (IAGP)
hepatic steatosis  (IAGP)
hyperglycemia  (IAGP)
impaired coordination  (IAGP)
increased body weight  (IAGP)
increased circulating cholesterol level  (IAGP)
increased circulating insulin level  (IAGP)
increased circulating triglyceride level  (IAGP)
increased kidney weight  (IAGP)
increased liver weight  (IAGP)
increased spleen weight  (IAGP)
increased susceptibility to bacterial infection  (IEA)
increased susceptibility to induced colitis  (IEA)
increased total fat pad weight  (IAGP)
infertility  (IAGP)
jerky movement  (IAGP)
lethality, complete penetrance  (IEA)
male infertility  (IAGP)
mosaic coat color  (IEA)
mottled coat  (IAGP)
multinucleated giant male germ cells  (IAGP)
neonatal lethality  (IAGP)
neonatal lethality, incomplete penetrance  (IAGP)
nervous  (IAGP)
no abnormal phenotype detected  (IEA)
ocular albinism  (IEA)
perinatal lethality  (IAGP)
perinatal lethality, incomplete penetrance  (IAGP)
phenotypic reversion  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
premature hair loss  (IEA)
prenatal lethality  (IAGP)
prenatal lethality, complete penetrance  (IAGP)
preweaning lethality, complete penetrance  (IAGP)
reduced male fertility  (IEA)
small seminiferous tubules  (IAGP)
small testis  (IAGP)
teratozoospermia  (IAGP)
testis hypoplasia  (IAGP)
tremors  (IAGP)
variegated coat color  (IAGP)
yellow coat color  (IAGP)
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. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
9. MGDs mouse GO annotations MGD data from the GO Consortium
10. MGD IEA MGD IEA
11. 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.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. Mouse MP Annotation Import Pipeline RGD automated import pipeline
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. 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.
17. 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:102659   PMID:162962   PMID:447675   PMID:621381   PMID:863229   PMID:872192   PMID:1054503   PMID:1063212   PMID:1225761   PMID:1303276   PMID:1303278   PMID:1347469  
PMID:1378547   PMID:1409429   PMID:1495987   PMID:1509264   PMID:1611213   PMID:1673574   PMID:1970795   PMID:1982431   PMID:2137109   PMID:2344351   PMID:2364541   PMID:2379821  
PMID:2744450   PMID:2813427   PMID:3319884   PMID:3897441   PMID:4397868   PMID:4435358   PMID:4634048   PMID:5094803   PMID:5565073   PMID:5833112   PMID:5902512   PMID:6088946  
PMID:6101098   PMID:6279728   PMID:6327825   PMID:6663229   PMID:7117836   PMID:7295293   PMID:7317942   PMID:7526177   PMID:7581464   PMID:7601462   PMID:7604002   PMID:7665913  
PMID:7683307   PMID:7698755   PMID:7761348   PMID:7774555   PMID:7849740   PMID:7889410   PMID:7894156   PMID:7963676   PMID:7985029   PMID:7991586   PMID:8001787   PMID:8095339  
PMID:8146195   PMID:8224069   PMID:8278937   PMID:8288260   PMID:8389469   PMID:8392662   PMID:8419934   PMID:8421497   PMID:8499656   PMID:8575552   PMID:8601493   PMID:8601494  
PMID:8661705   PMID:8661718   PMID:8672132   PMID:8769098   PMID:8783939   PMID:8789196   PMID:8789201   PMID:8812411   PMID:9060416   PMID:9100310   PMID:9108119   PMID:9114032  
PMID:9195990   PMID:9330366   PMID:9521852   PMID:9548375   PMID:9564894   PMID:9602068   PMID:9635590   PMID:9656467   PMID:9670976   PMID:9682826   PMID:9689098   PMID:9922399  
PMID:10068480   PMID:10349636   PMID:10441737   PMID:10517996   PMID:10590213   PMID:10590232   PMID:10760285   PMID:10903848   PMID:10946246   PMID:10998130   PMID:10998131   PMID:11042159  
PMID:11074018   PMID:11076861   PMID:11095635   PMID:11106796   PMID:11217851   PMID:11254699   PMID:11285201   PMID:11310796   PMID:11601658   PMID:11756244   PMID:11857469   PMID:12028586  
PMID:12058062   PMID:12064459   PMID:12354157   PMID:12466851   PMID:12475946   PMID:12477932   PMID:12606284   PMID:12644183   PMID:12856284   PMID:13877379   PMID:13914573   PMID:13943454  
PMID:14402638   PMID:14487977   PMID:14500365   PMID:14530442   PMID:14706343   PMID:15051828   PMID:15620220   PMID:15782199   PMID:16075369   PMID:16124007   PMID:16141072   PMID:16141073  
PMID:16185282   PMID:16202662   PMID:16573532   PMID:16602821   PMID:17245945   PMID:17246029   PMID:17246039   PMID:17246054   PMID:17246260   PMID:17247190   PMID:17247200   PMID:17247280  
PMID:17247308   PMID:17247639   PMID:17247933   PMID:17248484   PMID:17516930   PMID:17584907   PMID:17629744   PMID:18117146   PMID:18177347   PMID:18639560   PMID:18890162   PMID:19427509  
PMID:19887611   PMID:21118969   PMID:21232027   PMID:21267068   PMID:21392365   PMID:21677750   PMID:21709021   PMID:21873635   PMID:22677273   PMID:22718909   PMID:23106556   PMID:23609791  
PMID:23962237   PMID:24118800   PMID:25656818   PMID:25736709   PMID:25739360   PMID:25917818   PMID:26971330   PMID:28009282   PMID:29475039   PMID:29617656   PMID:37076619  


Genomics

Comparative Map Data
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
(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
(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
(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
10038 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1761
Count of miRNA genes:658
Interacting mature miRNAs:788
Transcripts:ENSMUST00000032633, ENSMUST00000144739, ENSMUST00000152693, ENSMUST00000154559, ENSMUST00000155533, ENSMUST00000156886
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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300722Sle3_msystemic lupus erythmatosus susceptibility 3 (mouse)Not determined7351172887142720Mouse
38501068Tip1_mtuberculosis immunophenotype 1, spleen CFU (mouse)7360299972549748Mouse
25314307Mlh1fc2_mMLH1 foci count 2 (mouse)76502999133501729Mouse
12792978Fbmd3_mfemoral bone mineral density 3, females only (mouse)77050288142367832Mouse
10412199Sst2_msusceptibility to tuberculosis 2 (mouse)Not determined718728794119485380Mouse
1301158Eae4_msusceptibility to experimental allergic encephalomyelitis 4 (mouse)Not determined719147398141919804Mouse
12904742Litsq2_mlitter size QTL 2 (mouse)72267388756674033Mouse
1301709Bdt4_mbone density traits 4 (mouse)Not determined72288857256888716Mouse
11354952Pdcc1_mplasmacytoid dentritic cell compartment 1 (mouse)72306653157066531Mouse
1301969Lbw5_mlupus NZB x NZW 5 (mouse)Not determined72684761560851775Mouse
12790989Tgl6_mtriglyceride 6 (mouse)72754054961540549Mouse
4141805Sle19_msystematic lupus erythematosus susceptibility 19 (mouse)Not determined3003248581135653Mouse
26884404Huml1_mhumerus length 1, 5 week (mouse)730199425108999207Mouse
1301175Ap7q_malcohol preference 7 QTL (mouse)Not determined73171484565715077Mouse
1300996Aorls2_maortic lesion size 2 (mouse)Not determined73239453266394681Mouse
4142003W3q10_mweight 3 weeks QTL 10 (mouse)Not determined3349772758148965Mouse
4142102Tailq5_mtail length QTL 5 (mouse)Not determined3349772758148965Mouse
4142218W6q17_mweight 6 weeks QTL 17 (mouse)Not determined3349772758148965Mouse
4141909W10q18_mweight 10 weeks QTL 18 (mouse)Not determined3349772758148965Mouse
1357883Epfq5_mepididymal fat pad weight QTL 5 (mouse)Not determined73349772758148965Mouse
1357634Splq7_mspleen weight QTL 7 (mouse)Not determined73349772758148965Mouse
39128210Lwq19_mliver weight QTL 19 (mouse)73349772758148965Mouse
1357469Kidq5_mkidney weight QTL 5 (mouse)Not determined73349772758148965Mouse
1559000Ossc1_mosteosarcoma susceptibility 1 (mouse)Not determined73405302568053223Mouse
10045622Heal20_mwound healing/regeneration 20 (mouse)Not determined73431688768317043Mouse
1357586Mdmsc3_mmodifier of muscularity 3 (mouse)Not determined73444786968448018Mouse
1301514Rigs1_mradiation induced gastroschisis 1 (mouse)Not determined73628001592394346Mouse
1301082Bbaa16_mB.burgdorferi-associated arthritis 16 (mouse)Not determined736280015116416877Mouse
25314301Vmm3_mvariable multisystem mineralization 3, lung (mouse)73729942572049748Mouse
25314303Vmm4_mvariable multisystem mineralization 4, kidney (mouse)73729942587049208Mouse
1300878Skts1_mskin tumor susceptibility 1 (mouse)Not determined73789138671891582Mouse
10402488Dipa2_mdrug induced psychomotor activation 2 (mouse)Not determined73842154872421684Mouse
1300791Abbp3_mA/J and C57BL/6 blood pressure 3 (mouse)Not determined739673887103510010Mouse
11252140Fdr1_mfat response to dietary restriction 1 (mouse)74114882075148965Mouse
4141929Chlq18_mcirculating hormone level QTL 18 (mouse)Not determined74114882075148965Mouse
10043926Bw1n_mbody weight 1 in NSY (mouse)Not determined745161966118693530Mouse
12880417V125Dq5_mvitamin D active form serum level QTL 5 (mouse)74524974879249748Mouse
25314304Vmm1_mvariable multisystem mineralization 1, muzzle (mouse)74714974856549748Mouse
25314302Vmm2_mvariable multisystem mineralization 2, heart (mouse)74714974874149748Mouse
12738423Lfibq6_mliver fibrosis QTL 6 (mouse)74769437866704862Mouse
1302141Fcsa6_mfemoral cross-sectional area 6 (mouse)Not determined74838446182384607Mouse
11532741Tbrs5_mtuberculosis resistance 5 (mouse)74915922783235415Mouse
1357752Tabw_mtally ho asscoiated body weight (mouse)Not determined74919327883193390Mouse
10053685Eae43_mexperimental allergic encephalomyelitis susceptibility 43 (mouse)Not determined75112495485125093Mouse
10054064Bwq11_mbody weight QTL 11 (mouse)Not determined75112495485125093Mouse
13208555Lgth10_mbody length 10 (mouse)751649748125599172Mouse
12880418V125Dq6_mvitamin D active form serum level QTL 6 (mouse)75214974886149748Mouse
27226751Femd5_mfemur midshaft diameter 5, 10 week (mouse)753249748143153737Mouse
25823170Hrsq7_mhost response to SARS QTL 7, log titer (mouse)754819589116822815Mouse
11565101Tsve1_mvariable short tail (Tsv) enhancer 1 (mouse)75588950887142720Mouse

Markers in Region
07.MMHAP53FLC1.seq  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38756,249,843 - 56,249,993UniSTSGRCm38
GRCm3817,765,396 - 7,765,539UniSTSGRCm38
MGSCv37763,505,213 - 63,505,363UniSTSGRCm37
MGSCv3717,755,477 - 7,755,620UniSTSGRCm37
Celera753,588,865 - 53,589,015UniSTS
Celera17,752,651 - 7,752,794UniSTS
Cytogenetic Map7B5-CUniSTS
Whitehead_YAC7 UniSTS
D7Mit295  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38756,311,921 - 56,312,062UniSTSGRCm38
MGSCv37763,567,291 - 63,567,432UniSTSGRCm37
Celera753,655,229 - 53,655,376UniSTS
Cytogenetic Map7B5-CUniSTS
cM Map727.8UniSTS
Whitehead Genetic726.2UniSTS
Whitehead/MRC_RH7669.27UniSTS
Whitehead_YAC7 UniSTS
D10Jhu51  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38756,414,907 - 56,415,132UniSTSGRCm38
MGSCv37763,670,277 - 63,670,502UniSTSGRCm37
Celera753,754,697 - 53,754,922UniSTS
Cytogenetic Map7B5-CUniSTS
cM Map1041.6UniSTS
cM Map7 UniSTS
AI007682  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38756,536,385 - 56,536,474UniSTSGRCm38
MGSCv37763,791,755 - 63,791,844UniSTSGRCm37
Celera753,870,417 - 53,870,506UniSTS
Cytogenetic Map7B5-CUniSTS
Oca2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7B5-CUniSTS
p  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38756,241,185 - 56,241,595UniSTSGRCm38
MGSCv37763,496,555 - 63,496,965UniSTSGRCm37
Celera753,580,349 - 53,580,751UniSTS
Cytogenetic Map7B5-CUniSTS
cM Map728.0UniSTS
p  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38756,287,939 - 56,288,370UniSTSGRCm38
MGSCv37763,543,309 - 63,543,740UniSTSGRCm37
Celera753,627,686 - 53,628,117UniSTS
Cytogenetic Map7B5-CUniSTS
cM Map728.0UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_021879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_157030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_157031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006540699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006540700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB716353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB716354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC102150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC102220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC102299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC121900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK051897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK087494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK186451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK201281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC120549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSMUST00000032633   ⟹   ENSMUSP00000032633
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl755,889,508 - 56,186,266 (+)Ensembl
GRCm38.p6 Ensembl756,239,760 - 56,536,518 (+)Ensembl
RefSeq Acc Id: ENSMUST00000144739   ⟹   ENSMUSP00000119529
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl755,889,556 - 56,186,261 (+)Ensembl
GRCm38.p6 Ensembl756,239,808 - 56,536,513 (+)Ensembl
RefSeq Acc Id: ENSMUST00000152693   ⟹   ENSMUSP00000119099
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl755,889,525 - 56,186,013 (+)Ensembl
GRCm38.p6 Ensembl756,239,777 - 56,536,265 (+)Ensembl
RefSeq Acc Id: ENSMUST00000154559
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl755,955,986 - 55,973,380 (+)Ensembl
GRCm38.p6 Ensembl756,306,238 - 56,323,632 (+)Ensembl
RefSeq Acc Id: ENSMUST00000155533   ⟹   ENSMUSP00000145823
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl755,889,509 - 55,904,714 (+)Ensembl
GRCm38.p6 Ensembl756,239,761 - 56,254,966 (+)Ensembl
RefSeq Acc Id: ENSMUST00000156886   ⟹   ENSMUSP00000121798
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl755,889,529 - 55,930,544 (+)Ensembl
GRCm38.p6 Ensembl756,239,781 - 56,280,796 (+)Ensembl
RefSeq Acc Id: NM_021879   ⟹   NP_068679
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39755,889,507 - 56,186,266 (+)NCBI
GRCm38756,239,759 - 56,536,518 (+)NCBI
MGSCv37763,495,141 - 63,791,887 (+)RGD
Celera753,578,935 - 53,870,549 (+)RGD
cM Map7 ENTREZGENE
Sequence:
RefSeq Acc Id: NR_157030
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39755,889,507 - 56,186,266 (+)NCBI
GRCm38756,239,759 - 56,536,518 (+)NCBI
Sequence:
RefSeq Acc Id: NR_157031
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39755,889,507 - 56,186,266 (+)NCBI
GRCm38756,239,759 - 56,536,518 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006540699   ⟹   XP_006540762
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39755,889,341 - 56,186,247 (+)NCBI
GRCm38756,239,593 - 56,536,499 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006540700   ⟹   XP_006540763
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39755,889,341 - 56,186,247 (+)NCBI
GRCm38756,239,593 - 56,536,499 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_068679   ⟸   NM_021879
- UniProtKB: Q0VBP9 (UniProtKB/Swiss-Prot),   Q62052 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006540763   ⟸   XM_006540700
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006540762   ⟸   XM_006540699
- Peptide Label: isoform X1
- UniProtKB: Q0VBP9 (UniProtKB/Swiss-Prot),   Q62052 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000119529   ⟸   ENSMUST00000144739
RefSeq Acc Id: ENSMUSP00000032633   ⟸   ENSMUST00000032633
RefSeq Acc Id: ENSMUSP00000119099   ⟸   ENSMUST00000152693
RefSeq Acc Id: ENSMUSP00000121798   ⟸   ENSMUST00000156886
RefSeq Acc Id: ENSMUSP00000145823   ⟸   ENSMUST00000155533

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q62052-F1-model_v2 AlphaFold Q62052 1-833 view protein structure

Promoters
RGD ID:8664261
Promoter ID:EPDNEW_M10162
Type:initiation region
Name:Oca2_1
Description:Mus musculus oculocutaneous albinism II , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M10163  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38756,239,761 - 56,239,821EPDNEW
RGD ID:8664263
Promoter ID:EPDNEW_M10163
Type:single initiation site
Name:Oca2_2
Description:Mus musculus oculocutaneous albinism II , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M10162  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38756,240,934 - 56,240,994EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:97454 AgrOrtholog
Ensembl Genes ENSMUSG00000030450 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000032633 ENTREZGENE
  ENSMUST00000032633.12 UniProtKB/Swiss-Prot
  ENSMUST00000144739.8 UniProtKB/TrEMBL
  ENSMUST00000152693 ENTREZGENE
  ENSMUST00000152693.8 UniProtKB/TrEMBL
  ENSMUST00000155533.2 UniProtKB/TrEMBL
  ENSMUST00000156886.8 UniProtKB/TrEMBL
InterPro Cit_transptr-like_dom UniProtKB/Swiss-Prot
KEGG Report mmu:18431 UniProtKB/Swiss-Prot
MGD MGI:97454 ENTREZGENE
NCBI Gene 18431 ENTREZGENE
PANTHER P PROTEIN UniProtKB/Swiss-Prot
  P PROTEIN UniProtKB/Swiss-Prot
  P PROTEIN UniProtKB/TrEMBL
  P PROTEIN UniProtKB/TrEMBL
Pfam CitMHS UniProtKB/Swiss-Prot
PhenoGen Oca2 PhenoGen
UniProt A0A0U1RP45_MOUSE UniProtKB/TrEMBL
  D3Z251_MOUSE UniProtKB/TrEMBL
  D6RCY7_MOUSE UniProtKB/TrEMBL
  D6RIQ8_MOUSE UniProtKB/TrEMBL
  P_MOUSE UniProtKB/Swiss-Prot
  Q0VBP9 ENTREZGENE
  Q62052 ENTREZGENE
UniProt Secondary Q0VBP9 UniProtKB/Swiss-Prot