OPN4 (opsin 4) - Rat Genome Database

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Gene: OPN4 (opsin 4) Homo sapiens
Analyze
Symbol: OPN4
Name: opsin 4
RGD ID: 1349299
HGNC Page HGNC:14449
Description: Enables 11-cis retinal binding activity and G protein-coupled photoreceptor activity. Involved in phototransduction. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: melanopsin; MGC142118; MOP; opsin 4 (melanopsin); opsin-4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381086,654,547 - 86,666,460 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1086,654,518 - 86,666,460 (+)EnsemblGRCh38hg38GRCh38
GRCh371088,414,304 - 88,426,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361088,404,294 - 88,416,197 (+)NCBINCBI36Build 36hg18NCBI36
Build 341088,404,377 - 88,416,192NCBI
Celera1082,417,087 - 82,428,990 (+)NCBICelera
Cytogenetic Map10q23.2NCBI
HuRef1082,268,556 - 82,280,460 (+)NCBIHuRef
CHM1_11088,695,970 - 88,707,871 (+)NCBICHM1_1
T2T-CHM13v2.01087,538,707 - 87,550,619 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10632589   PMID:12163844   PMID:12477932   PMID:12853434   PMID:15203218   PMID:15489334   PMID:15674243   PMID:15674244   PMID:15716953   PMID:16385451   PMID:16687290  
PMID:16754659   PMID:16961436   PMID:17286855   PMID:18240029   PMID:18577758   PMID:18804284   PMID:18976975   PMID:19470168   PMID:20180986   PMID:20554694   PMID:20810319   PMID:21873635  
PMID:22074930   PMID:22868039   PMID:22881342   PMID:23055493   PMID:23554393   PMID:23555953   PMID:23809464   PMID:24119231   PMID:24449866   PMID:24887407   PMID:24909488   PMID:25313040  
PMID:25741728   PMID:26186194   PMID:27091519   PMID:27690288   PMID:28514442   PMID:29239123   PMID:29700553   PMID:29718372   PMID:31110303   PMID:31219170   PMID:31380578   PMID:31730232  
PMID:31989708   PMID:32269074   PMID:32296183   PMID:32645331   PMID:33445464   PMID:33961781   PMID:34035222   PMID:35562405   PMID:35637236   PMID:36652389   PMID:38808443   PMID:39151779  


Genomics

Comparative Map Data
OPN4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381086,654,547 - 86,666,460 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1086,654,518 - 86,666,460 (+)EnsemblGRCh38hg38GRCh38
GRCh371088,414,304 - 88,426,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361088,404,294 - 88,416,197 (+)NCBINCBI36Build 36hg18NCBI36
Build 341088,404,377 - 88,416,192NCBI
Celera1082,417,087 - 82,428,990 (+)NCBICelera
Cytogenetic Map10q23.2NCBI
HuRef1082,268,556 - 82,280,460 (+)NCBIHuRef
CHM1_11088,695,970 - 88,707,871 (+)NCBICHM1_1
T2T-CHM13v2.01087,538,707 - 87,550,619 (+)NCBIT2T-CHM13v2.0
Opn4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391434,312,575 - 34,322,099 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1434,312,575 - 34,322,099 (-)EnsemblGRCm39 Ensembl
GRCm381434,590,618 - 34,600,142 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1434,590,618 - 34,600,142 (-)EnsemblGRCm38mm10GRCm38
MGSCv371435,403,804 - 35,413,328 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361433,421,454 - 33,429,234 (-)NCBIMGSCv36mm8
Celera1430,856,294 - 30,865,818 (-)NCBICelera
Cytogenetic Map14BNCBI
cM Map1420.83NCBI
Opn4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8169,926,638 - 9,935,810 (-)NCBIGRCr8
mRatBN7.2169,920,408 - 9,929,580 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl169,920,491 - 10,005,711 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx169,940,099 - 9,949,239 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01611,084,803 - 11,093,943 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0169,935,147 - 9,944,287 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01610,943,353 - 10,966,602 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1610,943,341 - 10,952,549 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0169,268,356 - 9,277,528 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41610,249,756 - 10,258,923 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11610,249,757 - 10,258,921 (-)NCBI
Celera165,287,559 - 5,296,704 (+)NCBICelera
Cytogenetic Map16p15NCBI
Opn4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555105,724,120 - 5,736,135 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555105,723,804 - 5,736,070 (+)NCBIChiLan1.0ChiLan1.0
OPN4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2898,650,558 - 98,659,765 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11098,655,877 - 98,665,084 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01083,082,351 - 83,095,161 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1 Ensembl1086,641,746 - 86,653,143 (+)Ensemblpanpan1.1panPan2
OPN4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1434,350,058 - 34,365,410 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl434,355,128 - 34,365,215 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha434,341,511 - 34,356,871 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0434,709,962 - 34,725,323 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl434,715,036 - 34,725,123 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1434,555,991 - 34,571,338 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0434,725,234 - 34,740,584 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0435,230,251 - 35,245,607 (+)NCBIUU_Cfam_GSD_1.0
Opn4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721344,151,328 - 44,162,304 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936804263,720 - 272,132 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936804261,210 - 272,449 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OPN4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1487,647,238 - 87,658,815 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11487,645,563 - 87,660,820 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21494,902,249 - 94,913,351 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OPN4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1945,199,897 - 45,212,193 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl945,200,707 - 45,211,636 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660485,312,090 - 5,321,780 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Opn4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624841474,035 - 482,475 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624841472,053 - 483,623 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OPN4
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1 copy number loss See cases [RCV000052534] Chr10:79719429..87358394 [GRCh38]
Chr10:81479185..89118151 [GRCh37]
Chr10:81149191..89108131 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1 copy number loss See cases [RCV000052537] Chr10:79802022..87358394 [GRCh38]
Chr10:81561459..89118151 [GRCh37]
Chr10:81541288..89108131 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 copy number loss See cases [RCV000052539] Chr10:79882162..87068261 [GRCh38]
Chr10:81641918..88828018 [GRCh37]
Chr10:81631898..88817998 [NCBI36]
Chr10:10q22.3-23.2
pathogenic|conflicting data from submitters
GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1 copy number loss See cases [RCV000052541] Chr10:79898516..86964367 [GRCh38]
Chr10:81658272..88724124 [GRCh37]
Chr10:81648252..88714104 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1 copy number loss See cases [RCV000052542] Chr10:79898516..87358394 [GRCh38]
Chr10:81658272..89118151 [GRCh37]
Chr10:81648252..89108131 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1 copy number loss See cases [RCV000052544] Chr10:79898516..87109827 [GRCh38]
Chr10:81658272..88869584 [GRCh37]
Chr10:81648252..88859564 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q23.1-23.31(chr10:84925492-88002064)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052546]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052546]|See cases [RCV000052546] Chr10:84925492..88002064 [GRCh38]
Chr10:86685248..89761821 [GRCh37]
Chr10:86675228..89751801 [NCBI36]
Chr10:10q23.1-23.31
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3 copy number gain See cases [RCV000053558] Chr10:79881238..87182117 [GRCh38]
Chr10:81640994..88941874 [GRCh37]
Chr10:81630974..88931854 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3 copy number gain See cases [RCV000053559] Chr10:84434981..89150802 [GRCh38]
Chr10:86194737..90910559 [GRCh37]
Chr10:86184717..90900539 [NCBI36]
Chr10:10q23.1-23.31
pathogenic
NM_001030015.2(OPN4):c.186G>A (p.Thr62=) single nucleotide variant Malignant melanoma [RCV000069062] Chr10:86656196 [GRCh38]
Chr10:88415953 [GRCh37]
Chr10:88405933 [NCBI36]
Chr10:10q23.2
not provided
NM_001030015.2(OPN4):c.1086C>T (p.Ala362=) single nucleotide variant Malignant melanoma [RCV000069063] Chr10:86661368 [GRCh38]
Chr10:88421125 [GRCh37]
Chr10:88411105 [NCBI36]
Chr10:10q23.2
not provided
GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1 copy number loss See cases [RCV000135348] Chr10:79925613..86951708 [GRCh38]
Chr10:81685369..88711465 [GRCh37]
Chr10:81675349..88701445 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1 copy number loss See cases [RCV000136565] Chr10:79802022..87068261 [GRCh38]
Chr10:81561459..88828018 [GRCh37]
Chr10:81263385..88817998 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1 copy number loss See cases [RCV000141724] Chr10:79689360..87223773 [GRCh38]
Chr10:81449116..88983530 [GRCh37]
Chr10:81119122..88973510 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1 copy number loss See cases [RCV000143178] Chr10:79881238..87180672 [GRCh38]
Chr10:81640994..88940429 [GRCh37]
Chr10:81630974..88930409 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 copy number loss See cases [RCV000148069] Chr10:79882162..87068261 [GRCh38]
Chr10:81641918..88828018 [GRCh37]
Chr10:81631898..88817998 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847) copy number loss not provided [RCV000767565] Chr10:81697811..88768847 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q23.2(chr10:88351438-88596409)x3 copy number gain See cases [RCV000449259] Chr10:88351438..88596409 [GRCh37]
Chr10:10q23.2
uncertain significance
GRCh37/hg19 10q23.1-23.31(chr10:86766571-92609514)x1 copy number loss See cases [RCV000447104] Chr10:86766571..92609514 [GRCh37]
Chr10:10q23.1-23.31
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88975551)x1 copy number loss See cases [RCV000447214] Chr10:81630468..88975551 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81892411-88722952)x1 copy number loss See cases [RCV000447520] Chr10:81892411..88722952 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88973570)x3 copy number gain See cases [RCV000448704] Chr10:81630468..88973570 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q23.2(chr10:88392032-88422089) copy number gain Abnormal esophagus morphology [RCV000416795] Chr10:88392032..88422089 [GRCh37]
Chr10:10q23.2
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1 copy number loss See cases [RCV000511644] Chr10:81597767..88951347 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1 copy number loss See cases [RCV000511659] Chr10:82013260..89166455 [GRCh37]
Chr10:10q23.1-23.2
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1 copy number loss See cases [RCV000511693] Chr10:81617260..88980961 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_033282.4(OPN4):c.694G>A (p.Val232Met) single nucleotide variant not specified [RCV004289151] Chr10:86659362 [GRCh38]
Chr10:88419119 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.560C>T (p.Ala187Val) single nucleotide variant not specified [RCV004287563] Chr10:86658619 [GRCh38]
Chr10:88418376 [GRCh37]
Chr10:10q23.2
uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3 copy number gain not provided [RCV000683282] Chr10:81644079..88973306 [GRCh37]
Chr10:10q22.3-23.2
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1 copy number loss not provided [RCV000683284] Chr10:83379241..93219169 [GRCh37]
Chr10:10q23.1-23.32
pathogenic
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_033282.4(OPN4):c.226G>A (p.Val76Met) single nucleotide variant not specified [RCV004296300] Chr10:86656236 [GRCh38]
Chr10:88415993 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.999G>T (p.Ser333=) single nucleotide variant not provided [RCV000914551] Chr10:86661314 [GRCh38]
Chr10:88421071 [GRCh37]
Chr10:10q23.2
likely benign
NM_033282.4(OPN4):c.1320C>G (p.Leu440=) single nucleotide variant not provided [RCV000959880] Chr10:86663724 [GRCh38]
Chr10:88423481 [GRCh37]
Chr10:10q23.2
benign
NM_033282.4(OPN4):c.1074-10G>A single nucleotide variant not provided [RCV000899828] Chr10:86662242 [GRCh38]
Chr10:88421999 [GRCh37]
Chr10:10q23.2
likely benign
NM_033282.4(OPN4):c.1130G>A (p.Arg377Gln) single nucleotide variant not specified [RCV004281870] Chr10:86662308 [GRCh38]
Chr10:88422065 [GRCh37]
Chr10:10q23.2
likely benign
NM_033282.4(OPN4):c.1331G>A (p.Gly444Asp) single nucleotide variant not provided [RCV000963931] Chr10:86663735 [GRCh38]
Chr10:88423492 [GRCh37]
Chr10:10q23.2
benign
NM_033282.4(OPN4):c.1412dup (p.Ser473fs) duplication not provided [RCV000910900] Chr10:86665725..86665726 [GRCh38]
Chr10:88425482..88425483 [GRCh37]
Chr10:10q23.2
benign
GRCh37/hg19 10q23.2(chr10:88211498-88621031)x3 copy number gain not provided [RCV001006343] Chr10:88211498..88621031 [GRCh37]
Chr10:10q23.2
uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1 copy number loss not provided [RCV001006339] Chr10:81617260..88980961 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q23.2(chr10:87975634-88619777)x3 copy number gain not provided [RCV001258456] Chr10:87975634..88619777 [GRCh37]
Chr10:10q23.2
uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961) copy number loss Chromosome 10q23 deletion syndrome [RCV002280714] Chr10:81630468..88980961 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1 copy number loss not provided [RCV001258450] Chr10:81617260..89146780 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
Single allele deletion not provided [RCV001260503] Chr10:81585301..89101700 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1 copy number loss not provided [RCV001258451] Chr10:81457752..89253430 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q23.1-23.31(chr10:87232436-89649679)x1 copy number loss not provided [RCV001827740] Chr10:87232436..89649679 [GRCh37]
Chr10:10q23.1-23.31
pathogenic
GRCh37/hg19 10q22.3-23.31(chr10:80585057-89721049)x3 copy number gain not provided [RCV002266548] Chr10:80585057..89721049 [GRCh37]
Chr10:10q22.3-23.31
not provided
GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1 copy number loss See cases [RCV002287561] Chr10:83533660..91913077 [GRCh37]
Chr10:10q23.1-23.31
pathogenic
GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1 copy number loss not provided [RCV002472429] Chr10:82595472..93542416 [GRCh37]
Chr10:10q23.1-23.32
pathogenic
NM_033282.4(OPN4):c.122G>A (p.Arg41Gln) single nucleotide variant not specified [RCV004240369] Chr10:86654905 [GRCh38]
Chr10:88414662 [GRCh37]
Chr10:10q23.2
likely benign
NM_033282.4(OPN4):c.907C>T (p.Leu303Phe) single nucleotide variant not specified [RCV004161660] Chr10:86660001 [GRCh38]
Chr10:88419758 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1313G>A (p.Arg438Gln) single nucleotide variant not specified [RCV004236051] Chr10:86663717 [GRCh38]
Chr10:88423474 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.545C>T (p.Ala182Val) single nucleotide variant not specified [RCV004191572] Chr10:86658604 [GRCh38]
Chr10:88418361 [GRCh37]
Chr10:10q23.2
likely benign
NM_033282.4(OPN4):c.970G>A (p.Ala324Thr) single nucleotide variant not provided [RCV003491310]|not specified [RCV004228812] Chr10:86661285 [GRCh38]
Chr10:88421042 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.224C>A (p.Thr75Lys) single nucleotide variant not specified [RCV004193581] Chr10:86656234 [GRCh38]
Chr10:88415991 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1070A>G (p.Tyr357Cys) single nucleotide variant not specified [RCV004193629] Chr10:86661385 [GRCh38]
Chr10:88421142 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.817G>A (p.Gly273Arg) single nucleotide variant not specified [RCV004238785] Chr10:86659911 [GRCh38]
Chr10:88419668 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.854G>A (p.Arg285Gln) single nucleotide variant not specified [RCV004242150] Chr10:86659948 [GRCh38]
Chr10:88419705 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.662G>A (p.Cys221Tyr) single nucleotide variant not specified [RCV004131384] Chr10:86659330 [GRCh38]
Chr10:88419087 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1206G>C (p.Trp402Cys) single nucleotide variant not specified [RCV004192908] Chr10:86662384 [GRCh38]
Chr10:88422141 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1220G>C (p.Arg407Thr) single nucleotide variant not specified [RCV004071050] Chr10:86662398 [GRCh38]
Chr10:88422155 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1223G>A (p.Arg408His) single nucleotide variant not specified [RCV004085744] Chr10:86662401 [GRCh38]
Chr10:88422158 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.376G>C (p.Val126Leu) single nucleotide variant not specified [RCV004207492] Chr10:86658117 [GRCh38]
Chr10:88417874 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1378G>A (p.Glu460Lys) single nucleotide variant not specified [RCV004189551] Chr10:86663782 [GRCh38]
Chr10:88423539 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.956C>G (p.Ala319Gly) single nucleotide variant not specified [RCV004150714] Chr10:86660050 [GRCh38]
Chr10:88419807 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.580G>C (p.Val194Leu) single nucleotide variant not specified [RCV004173049] Chr10:86658639 [GRCh38]
Chr10:88418396 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1015G>A (p.Ala339Thr) single nucleotide variant not specified [RCV004223241] Chr10:86661330 [GRCh38]
Chr10:88421087 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.859C>T (p.Arg287Trp) single nucleotide variant not provided [RCV004696385]|not specified [RCV004265506] Chr10:86659953 [GRCh38]
Chr10:88419710 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.293G>A (p.Ser98Asn) single nucleotide variant not specified [RCV004266335] Chr10:86658034 [GRCh38]
Chr10:88417791 [GRCh37]
Chr10:10q23.2
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3 copy number gain See cases [RCV003329515] Chr10:81611360..89264122 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
NM_033282.4(OPN4):c.320T>G (p.Met107Arg) single nucleotide variant not specified [RCV004342382] Chr10:86658061 [GRCh38]
Chr10:88417818 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.397T>C (p.Tyr133His) single nucleotide variant not specified [RCV004359352] Chr10:86658138 [GRCh38]
Chr10:88417895 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.539G>A (p.Gly180Asp) single nucleotide variant not specified [RCV004344908] Chr10:86658598 [GRCh38]
Chr10:88418355 [GRCh37]
Chr10:10q23.2
uncertain significance
GRCh37/hg19 10q23.2(chr10:87924933-88535015)x3 copy number gain not provided [RCV003484807] Chr10:87924933..88535015 [GRCh37]
Chr10:10q23.2
uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
NM_033282.4(OPN4):c.291-825T>G single nucleotide variant not provided [RCV003422699] Chr10:86657207 [GRCh38]
Chr10:88416964 [GRCh37]
Chr10:10q23.2
likely benign
GRCh37/hg19 10q23.2(chr10:88376441-88628991)x3 copy number gain not specified [RCV003986860] Chr10:88376441..88628991 [GRCh37]
Chr10:10q23.2
uncertain significance
GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1 copy number loss not specified [RCV003986869] Chr10:88121043..93641582 [GRCh37]
Chr10:10q23.2-23.32
pathogenic
NM_033282.4(OPN4):c.985C>A (p.Pro329Thr) single nucleotide variant not specified [RCV004499291] Chr10:86661300 [GRCh38]
Chr10:88421057 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.988T>C (p.Tyr330His) single nucleotide variant not specified [RCV004499292] Chr10:86661303 [GRCh38]
Chr10:88421060 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1324G>A (p.Gly442Ser) single nucleotide variant not specified [RCV004499295] Chr10:86663728 [GRCh38]
Chr10:88423485 [GRCh37]
Chr10:10q23.2
likely benign
NM_033282.4(OPN4):c.1402A>G (p.Lys468Glu) single nucleotide variant not specified [RCV004499296] Chr10:86665716 [GRCh38]
Chr10:88425473 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.554G>A (p.Arg185Lys) single nucleotide variant not specified [RCV004499299] Chr10:86658613 [GRCh38]
Chr10:88418370 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.947C>T (p.Ala316Val) single nucleotide variant not specified [RCV004499303] Chr10:86660041 [GRCh38]
Chr10:88419798 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.916G>A (p.Val306Met) single nucleotide variant not specified [RCV004499302] Chr10:86660010 [GRCh38]
Chr10:88419767 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1282G>T (p.Val428Leu) single nucleotide variant not specified [RCV004499294] Chr10:86663686 [GRCh38]
Chr10:88423443 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.521G>A (p.Arg174His) single nucleotide variant not specified [RCV004499297] Chr10:86658580 [GRCh38]
Chr10:88418337 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.580G>A (p.Val194Ile) single nucleotide variant not specified [RCV004499300] Chr10:86658639 [GRCh38]
Chr10:88418396 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.709A>G (p.Met237Val) single nucleotide variant not specified [RCV004499301] Chr10:86659377 [GRCh38]
Chr10:88419134 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.16G>T (p.Gly6Trp) single nucleotide variant not specified [RCV004646164] Chr10:86654799 [GRCh38]
Chr10:88414556 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.860G>A (p.Arg287Gln) single nucleotide variant not specified [RCV004655203] Chr10:86659954 [GRCh38]
Chr10:88419711 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1384G>A (p.Glu462Lys) single nucleotide variant not specified [RCV004655204] Chr10:86663788 [GRCh38]
Chr10:88423545 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.940G>A (p.Ala314Thr) single nucleotide variant not specified [RCV004655205] Chr10:86660034 [GRCh38]
Chr10:88419791 [GRCh37]
Chr10:10q23.2
likely benign
NM_033282.4(OPN4):c.201C>G (p.Asp67Glu) single nucleotide variant not specified [RCV004655206] Chr10:86656211 [GRCh38]
Chr10:88415968 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.393C>G (p.Ser131Arg) single nucleotide variant not specified [RCV004838322] Chr10:86658134 [GRCh38]
Chr10:88417891 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.871G>A (p.Glu291Lys) single nucleotide variant not specified [RCV004838323] Chr10:86659965 [GRCh38]
Chr10:88419722 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.787C>T (p.Arg263Trp) single nucleotide variant not specified [RCV004838324] Chr10:86659455 [GRCh38]
Chr10:88419212 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.832A>C (p.Asn278His) single nucleotide variant not specified [RCV004838320] Chr10:86659926 [GRCh38]
Chr10:88419683 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1214T>A (p.Ile405Lys) single nucleotide variant not specified [RCV004838321] Chr10:86662392 [GRCh38]
Chr10:88422149 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.953T>C (p.Val318Ala) single nucleotide variant not specified [RCV004838318] Chr10:86660047 [GRCh38]
Chr10:88419804 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.889A>G (p.Ile297Val) single nucleotide variant not specified [RCV004838319] Chr10:86659983 [GRCh38]
Chr10:88419740 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1136G>A (p.Ser379Asn) single nucleotide variant not specified [RCV004838325] Chr10:86662314 [GRCh38]
Chr10:88422071 [GRCh37]
Chr10:10q23.2
uncertain significance
NM_033282.4(OPN4):c.1169G>A (p.Arg390His) single nucleotide variant not specified [RCV004834972] Chr10:86662347 [GRCh38]
Chr10:88422104 [GRCh37]
Chr10:10q23.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1476
Count of miRNA genes:551
Interacting mature miRNAs:624
Transcripts:ENST00000241891, ENST00000372071, ENST00000443292
Prediction methods:Microtar, 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 (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human
597068185GWAS1164259_Hperipheral arterial disease, traffic air pollution measurement QTL GWAS1164259 (human)0.000001peripheral arterial disease, traffic air pollution measurement108665577886655779Human

Markers in Region
SHGC-147992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371088,412,578 - 88,412,875UniSTSGRCh37
Build 361088,402,558 - 88,402,855RGDNCBI36
Celera1082,415,351 - 82,415,648RGD
Cytogenetic Map10q22UniSTS
HuRef1082,266,820 - 82,267,117UniSTS
SHGC-149581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371088,418,853 - 88,419,159UniSTSGRCh37
Build 361088,408,833 - 88,409,139RGDNCBI36
Celera1082,421,626 - 82,421,932RGD
Cytogenetic Map10q22UniSTS
HuRef1082,273,095 - 82,273,401UniSTS
OPN4_1017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371088,425,567 - 88,426,227UniSTSGRCh37
Build 361088,415,547 - 88,416,207RGDNCBI36
Celera1082,428,340 - 82,429,000RGD
HuRef1082,279,810 - 82,280,470UniSTS
Opn4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371088,418,243 - 88,419,740UniSTSGRCh37
Celera1082,421,016 - 82,422,513UniSTS
HuRef1082,272,485 - 82,273,982UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1175 2211 2741 2028 4260 1244 1298 215 393 56 1986 4573 4469 12 3321 444 1305 1112 163

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001030015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB065730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF147788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM672338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD634966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD634974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ314804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ426884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT381095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000241891   ⟹   ENSP00000241891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,654,547 - 86,666,460 (+)Ensembl
Ensembl Acc Id: ENST00000372071   ⟹   ENSP00000361141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,654,518 - 86,666,455 (+)Ensembl
Ensembl Acc Id: ENST00000443292   ⟹   ENSP00000393132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,654,617 - 86,666,848 (+)Ensembl
Ensembl Acc Id: ENST00000686083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,657,361 - 86,660,900 (+)Ensembl
Ensembl Acc Id: ENST00000690949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,654,518 - 86,666,423 (+)Ensembl
RefSeq Acc Id: NM_001030015   ⟹   NP_001025186
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381086,654,547 - 86,666,460 (+)NCBI
GRCh371088,414,314 - 88,426,217 (+)ENTREZGENE
Build 361088,404,294 - 88,416,197 (+)NCBI Archive
HuRef1082,268,556 - 82,280,460 (+)ENTREZGENE
CHM1_11088,695,970 - 88,707,871 (+)NCBI
T2T-CHM13v2.01087,538,707 - 87,550,619 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033282   ⟹   NP_150598
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381086,654,547 - 86,666,460 (+)NCBI
GRCh371088,414,314 - 88,426,217 (+)ENTREZGENE
Build 361088,404,294 - 88,416,197 (+)NCBI Archive
HuRef1082,268,556 - 82,280,460 (+)ENTREZGENE
CHM1_11088,695,970 - 88,707,871 (+)NCBI
T2T-CHM13v2.01087,538,707 - 87,550,619 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016955   ⟹   XP_016872444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381086,654,547 - 86,664,579 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016956   ⟹   XP_016872445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381086,654,547 - 86,664,579 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054367200   ⟹   XP_054223175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01087,538,707 - 87,548,738 (+)NCBI
RefSeq Acc Id: XM_054367201   ⟹   XP_054223176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01087,538,707 - 87,548,738 (+)NCBI
RefSeq Acc Id: NP_001025186   ⟸   NM_001030015
- Peptide Label: isoform 2
- UniProtKB: Q9UHM6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_150598   ⟸   NM_033282
- Peptide Label: isoform 1
- UniProtKB: Q2PP22 (UniProtKB/Swiss-Prot),   Q14D01 (UniProtKB/Swiss-Prot),   B7ZLB3 (UniProtKB/Swiss-Prot),   Q8NGQ9 (UniProtKB/Swiss-Prot),   Q9UHM6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016872444   ⟸   XM_017016955
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016872445   ⟸   XM_017016956
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000361141   ⟸   ENST00000372071
Ensembl Acc Id: ENSP00000241891   ⟸   ENST00000241891
Ensembl Acc Id: ENSP00000393132   ⟸   ENST00000443292
RefSeq Acc Id: XP_054223175   ⟸   XM_054367200
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223176   ⟸   XM_054367201
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UHM6-F1-model_v2 AlphaFold Q9UHM6 1-478 view protein structure

Promoters
RGD ID:7218017
Promoter ID:EPDNEW_H14754
Type:initiation region
Name:OPN4_1
Description:opsin 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381086,654,547 - 86,654,607EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14449 AgrOrtholog
COSMIC OPN4 COSMIC
Ensembl Genes ENSG00000122375 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000241891 ENTREZGENE
  ENST00000241891.10 UniProtKB/Swiss-Prot
  ENST00000372071 ENTREZGENE
  ENST00000372071.7 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
GTEx ENSG00000122375 GTEx
HGNC ID HGNC:14449 ENTREZGENE
Human Proteome Map OPN4 Human Proteome Map
InterPro GPCR_opsins UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
  Opsin UniProtKB/Swiss-Prot
  Retinal_BS UniProtKB/Swiss-Prot
KEGG Report hsa:94233 UniProtKB/Swiss-Prot
NCBI Gene 94233 ENTREZGENE
OMIM 606665 OMIM
PANTHER OPSIN UniProtKB/Swiss-Prot
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB PA31940 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot
  OPSIN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
  OPSIN UniProtKB/Swiss-Prot
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot
UniProt B7ZLB3 ENTREZGENE
  OPN4_HUMAN UniProtKB/Swiss-Prot
  Q14D01 ENTREZGENE
  Q2PP22 ENTREZGENE
  Q8NGQ9 ENTREZGENE
  Q9UHM6 ENTREZGENE
UniProt Secondary B7ZLB3 UniProtKB/Swiss-Prot
  Q14D01 UniProtKB/Swiss-Prot
  Q2PP22 UniProtKB/Swiss-Prot
  Q8NGQ9 UniProtKB/Swiss-Prot