MTNR1A (melatonin receptor 1A) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: MTNR1A (melatonin receptor 1A) Homo sapiens
Analyze
Symbol: MTNR1A
Name: melatonin receptor 1A
RGD ID: 1352571
HGNC Page HGNC:7463
Description: Enables hormone binding activity; melatonin receptor activity; and organic cyclic compound binding activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway. Located in plasma membrane. Part of receptor complex. Biomarker of Huntington's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MEL-1A-R; mel1a receptor; melatonin receptor type 1A; MT1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384186,533,655 - 186,555,567 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4186,526,792 - 186,555,567 (-)EnsemblGRCh38hg38GRCh38
GRCh374187,454,809 - 187,476,721 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364187,691,803 - 187,713,531 (-)NCBINCBI36Build 36hg18NCBI36
Build 344187,829,957 - 187,851,686NCBI
Celera4184,775,494 - 184,797,420 (-)NCBICelera
Cytogenetic Map4q35.2NCBI
HuRef4183,202,086 - 183,223,734 (-)NCBIHuRef
CHM1_14187,431,225 - 187,452,953 (-)NCBICHM1_1
T2T-CHM13v2.04189,880,029 - 189,902,297 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)
neuronal cell body  (ISO)
plasma membrane  (IBA,IDA,IEA,TAS)
receptor complex  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Diabetic Goto Kakizaki rats as well as type 2 diabetic patients show a decreased diurnal serum melatonin level and an increased pancreatic melatonin-receptor status. Peschke E, etal., J Pineal Res. 2006 Mar;40(2):135-43.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. The melatonin MT1 receptor axis modulates mutant Huntingtin-mediated toxicity. Wang X, etal., J Neurosci. 2011 Oct 12;31(41):14496-507. doi: 10.1523/JNEUROSCI.3059-11.2011.
6. Melatonin inhibits the caspase-1/cytochrome c/caspase-3 cell death pathway, inhibits MT1 receptor loss and delays disease progression in a mouse model of amyotrophic lateral sclerosis. Zhang Y, etal., Neurobiol Dis. 2013 Jul;55:26-35. doi: 10.1016/j.nbd.2013.03.008. Epub 2013 Mar 26.
Additional References at PubMed
PMID:1144527   PMID:2834384   PMID:7558006   PMID:7946354   PMID:8700109   PMID:8988899   PMID:9645677   PMID:10471411   PMID:10531408   PMID:10598579   PMID:10612428   PMID:11448873  
PMID:11606436   PMID:11841602   PMID:11897804   PMID:11940583   PMID:12088876   PMID:12477932   PMID:12767050   PMID:12973153   PMID:14675129   PMID:15266022   PMID:15489334   PMID:16098099  
PMID:16778767   PMID:17072839   PMID:17215244   PMID:17349020   PMID:17645699   PMID:17803522   PMID:18067741   PMID:18341518   PMID:18378672   PMID:18448421   PMID:18452558   PMID:18577758  
PMID:18794763   PMID:18979234   PMID:19001515   PMID:19184136   PMID:19913121   PMID:20050373   PMID:20110911   PMID:20372918   PMID:20377855   PMID:20628086   PMID:20657642   PMID:20726823  
PMID:20859254   PMID:21474908   PMID:21497337   PMID:21526376   PMID:21552555   PMID:21615493   PMID:21635358   PMID:21652546   PMID:21809392   PMID:21818375   PMID:21873635   PMID:22017484  
PMID:22138747   PMID:22217986   PMID:22686298   PMID:23155241   PMID:23250547   PMID:23333399   PMID:23725077   PMID:24104479   PMID:24117008   PMID:24157813   PMID:24724723   PMID:25514412  
PMID:25770211   PMID:25806809   PMID:25822611   PMID:25833399   PMID:25967351   PMID:26514267   PMID:26519818   PMID:26997408   PMID:27038909   PMID:28084098   PMID:28298427   PMID:28364478  
PMID:29104467   PMID:29247541   PMID:29982836   PMID:30183205   PMID:30360728   PMID:30664204   PMID:31019306   PMID:31029764   PMID:31290783   PMID:31588999   PMID:31829023   PMID:31936298  
PMID:31947744   PMID:32296183   PMID:32430930   PMID:32730662   PMID:32804352   PMID:33392634   PMID:35075127   PMID:35889222   PMID:36244129   PMID:36892670   PMID:37138267   PMID:37259752  


Genomics

Comparative Map Data
MTNR1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384186,533,655 - 186,555,567 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4186,526,792 - 186,555,567 (-)EnsemblGRCh38hg38GRCh38
GRCh374187,454,809 - 187,476,721 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364187,691,803 - 187,713,531 (-)NCBINCBI36Build 36hg18NCBI36
Build 344187,829,957 - 187,851,686NCBI
Celera4184,775,494 - 184,797,420 (-)NCBICelera
Cytogenetic Map4q35.2NCBI
HuRef4183,202,086 - 183,223,734 (-)NCBIHuRef
CHM1_14187,431,225 - 187,452,953 (-)NCBICHM1_1
T2T-CHM13v2.04189,880,029 - 189,902,297 (-)NCBIT2T-CHM13v2.0
Mtnr1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39845,522,144 - 45,542,270 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl845,522,174 - 45,541,543 (+)EnsemblGRCm39 Ensembl
GRCm38845,069,107 - 45,089,233 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl845,069,137 - 45,088,506 (+)EnsemblGRCm38mm10GRCm38
MGSCv37846,154,564 - 46,173,860 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36846,568,027 - 46,587,323 (+)NCBIMGSCv36mm8
Celera847,756,698 - 47,775,989 (+)NCBICelera
Cytogenetic Map8B1.1NCBI
cM Map824.95NCBI
Mtnr1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81653,876,964 - 53,896,421 (-)NCBIGRCr8
mRatBN7.21647,144,461 - 47,163,919 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1647,144,461 - 47,163,919 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1652,537,231 - 52,556,697 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01655,914,702 - 55,934,153 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01651,176,623 - 51,196,091 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01650,339,358 - 50,358,809 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1650,339,358 - 50,358,809 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01650,060,173 - 50,079,905 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41650,439,407 - 50,458,585 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11650,440,049 - 50,458,436 (-)NCBI
Celera1645,133,125 - 45,152,577 (-)NCBICelera
Cytogenetic Map16q11NCBI
Mtnr1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540322,636,212 - 22,658,566 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540322,636,212 - 22,658,566 (+)NCBIChiLan1.0ChiLan1.0
MTNR1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23184,264,624 - 184,293,011 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14184,611,403 - 184,641,772 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04178,693,869 - 178,720,351 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14190,897,192 - 190,921,677 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4190,897,192 - 190,921,677 (-)Ensemblpanpan1.1panPan2
MTNR1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11644,258,239 - 44,286,761 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1644,744,863 - 44,773,476 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01646,475,550 - 46,506,291 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1646,477,377 - 46,504,258 (+)EnsemblROS_Cfam_1.0 Ensembl
UU_Cfam_GSD_1.01645,187,864 - 45,219,170 (+)NCBIUU_Cfam_GSD_1.0
Mtnr1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494335,063,053 - 35,096,930 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365543,013,050 - 3,047,179 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365543,013,106 - 3,047,171 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTNR1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl178,596,911 - 8,617,657 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1178,597,047 - 8,618,746 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2179,510,039 - 9,522,414 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTNR1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17132,423,619 - 132,445,881 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7132,424,052 - 132,444,860 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037112,752,358 - 112,774,119 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mtnr1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476917,320,107 - 17,355,099 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476917,320,100 - 17,355,164 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTNR1A
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:173599911..188624331 [GRCh38]
Chr4:174521062..189545485 [GRCh37]
Chr4:174757637..189782479 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2		 pathogenic
GRCh38/hg38 4q35.2(chr4:186218358-187484068)x3 copy number gain See cases [RCV000050554] Chr4:186218358..187484068 [GRCh38]
Chr4:187139512..188405222 [GRCh37]
Chr4:187376506..188642216 [NCBI36]
Chr4:4q35.2		 uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 copy number loss See cases [RCV000050665] Chr4:183528264..188624331 [GRCh38]
Chr4:184449417..189545485 [GRCh37]
Chr4:184686411..189782479 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 copy number loss See cases [RCV000051215] Chr4:175483683..189975519 [GRCh38]
Chr4:176404834..190828225 [GRCh37]
Chr4:176641828..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 copy number gain See cases [RCV000051805] Chr4:179946068..189548183 [GRCh38]
Chr4:180867221..190469337 [GRCh37]
Chr4:181104215..190706331 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3 copy number gain See cases [RCV000051657] Chr4:185738786..186557156 [GRCh38]
Chr4:186659940..187478310 [GRCh37]
Chr4:186896934..187715304 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:173754675..189343295 [GRCh38]
Chr4:174675826..190264449 [GRCh37]
Chr4:174912401..190501443 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 copy number loss See cases [RCV000053378] Chr4:183354112..190042639 [GRCh38]
Chr4:184275265..190828225 [GRCh37]
Chr4:184512259..191200788 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 copy number loss See cases [RCV000053379] Chr4:185074103..189867552 [GRCh38]
Chr4:185995257..190788707 [GRCh37]
Chr4:186232251..191025701 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1 copy number loss See cases [RCV000053394] Chr4:185351249..189867552 [GRCh38]
Chr4:186272403..190788707 [GRCh37]
Chr4:186509397..191025701 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185498280-186984787)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053395]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053395]|See cases [RCV000053395] Chr4:185498280..186984787 [GRCh38]
Chr4:186419434..187905941 [GRCh37]
Chr4:186656428..188142935 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] Chr4:176263514..189975519 [GRCh38]
Chr4:177184665..190828225 [GRCh37]
Chr4:177421659..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 copy number loss See cases [RCV000053374] Chr4:177442769..190042639 [GRCh38]
Chr4:178363923..190828225 [GRCh37]
Chr4:178600917..191200788 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 copy number loss See cases [RCV000053375] Chr4:179669472..189975660 [GRCh38]
Chr4:180590625..190828225 [GRCh37]
Chr4:180827619..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] Chr4:179945868..189975660 [GRCh38]
Chr4:180867021..190828225 [GRCh37]
Chr4:181104015..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] Chr4:181455566..189975660 [GRCh38]
Chr4:182376719..190828225 [GRCh37]
Chr4:182613713..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.2(chr4:186550538-187284289)x1 copy number loss See cases [RCV000054077] Chr4:186550538..187284289 [GRCh38]
Chr4:187471692..188205443 [GRCh37]
Chr4:187708686..188442437 [NCBI36]
Chr4:4q35.2		 uncertain significance
NM_005958.3(MTNR1A):c.595C>T (p.Pro199Ser) single nucleotide variant Malignant melanoma [RCV000066374] Chr4:186534147 [GRCh38]
Chr4:187455301 [GRCh37]
Chr4:187692295 [NCBI36]
Chr4:4q35.2		 not provided
NM_005958.3(MTNR1A):c.594C>T (p.Val198=) single nucleotide variant Malignant melanoma [RCV000066375] Chr4:186534148 [GRCh38]
Chr4:187455302 [GRCh37]
Chr4:187692296 [NCBI36]
Chr4:4q35.2		 not provided
NM_005958.3(MTNR1A):c.441C>T (p.Tyr147=) single nucleotide variant Malignant melanoma [RCV000060958] Chr4:186534301 [GRCh38]
Chr4:187455455 [GRCh37]
Chr4:187692449 [NCBI36]
Chr4:4q35.2		 not provided
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 copy number gain See cases [RCV000133708] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190828225 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 copy number loss See cases [RCV000133709] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190896674 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic|likely benign
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 copy number gain See cases [RCV000134158] Chr4:184406972..188915538 [GRCh38]
Chr4:185328126..189836692 [GRCh37]
Chr4:185565120..190073686 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 copy number loss See cases [RCV000134276] Chr4:182437091..190018185 [GRCh38]
Chr4:183358244..190939340 [GRCh37]
Chr4:183595238..191176334 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 copy number gain See cases [RCV000135693] Chr4:180451652..190095391 [GRCh38]
Chr4:181372805..190828225 [GRCh37]
Chr4:181609799..191250527 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:173854560..189548183 [GRCh38]
Chr4:174775711..190469337 [GRCh37]
Chr4:175012286..190706331 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1 copy number loss See cases [RCV000135893] Chr4:186187749..189800953 [GRCh38]
Chr4:187108903..190722107 [GRCh37]
Chr4:187345897..190959101 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 copy number loss See cases [RCV000136942] Chr4:184239531..189975519 [GRCh38]
Chr4:185160684..190828225 [GRCh37]
Chr4:185397678..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 copy number loss See cases [RCV000137101] Chr4:177985956..189975519 [GRCh38]
Chr4:178907110..190828225 [GRCh37]
Chr4:179144104..191133668 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 copy number loss See cases [RCV000137343] Chr4:178014570..190095391 [GRCh38]
Chr4:178935724..190828225 [GRCh37]
Chr4:179172718..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 copy number loss See cases [RCV000137262] Chr4:178549472..190095391 [GRCh38]
Chr4:179470626..190828225 [GRCh37]
Chr4:179707620..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 copy number loss See cases [RCV000137345] Chr4:180574962..190095391 [GRCh38]
Chr4:181496115..190828225 [GRCh37]
Chr4:181733109..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:186129390-190095391)x1 copy number loss See cases [RCV000137828] Chr4:186129390..190095391 [GRCh38]
Chr4:187050544..190828225 [GRCh37]
Chr4:187287538..191250527 [NCBI36]
Chr4:4q35.1-35.2		 likely benign|uncertain significance
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 copy number loss See cases [RCV000137925] Chr4:174150183..188259055 [GRCh38]
Chr4:175071334..189180209 [GRCh37]
Chr4:175307909..189417203 [NCBI36]
Chr4:4q34.1-35.2		 likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 copy number loss See cases [RCV000138668] Chr4:183072743..190095391 [GRCh38]
Chr4:183993896..190828225 [GRCh37]
Chr4:184230890..191250527 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4 copy number gain See cases [RCV000138568] Chr4:185790027..187829822 [GRCh38]
Chr4:186711181..188750976 [GRCh37]
Chr4:186948175..188987970 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2		 uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 copy number gain See cases [RCV000140450] Chr4:179295511..190036318 [GRCh38]
Chr4:180216665..190957473 [GRCh37]
Chr4:180453659..191194467 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1 copy number loss See cases [RCV000139618] Chr4:185698962..189975613 [GRCh38]
Chr4:186620116..190828225 [GRCh37]
Chr4:186857110..191133762 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3 copy number gain See cases [RCV000141422] Chr4:184924265..186578389 [GRCh38]
Chr4:185845419..187499543 [GRCh37]
Chr4:186082413..187736537 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q35.2(chr4:186554379-189324047)x1 copy number loss See cases [RCV000140992] Chr4:186554379..189324047 [GRCh38]
Chr4:187475533..190245201 [GRCh37]
Chr4:187712527..190482195 [NCBI36]
Chr4:4q35.2		 uncertain significance
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:173989029..189975519 [GRCh38]
Chr4:174910180..190828225 [GRCh37]
Chr4:175146755..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 copy number gain See cases [RCV000141753] Chr4:182732498..187998523 [GRCh38]
Chr4:183653651..188919677 [GRCh37]
Chr4:183890645..189156671 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1 copy number loss See cases [RCV000141727] Chr4:185290811..187350114 [GRCh38]
Chr4:186211965..188271268 [GRCh37]
Chr4:186448959..188508262 [NCBI36]
Chr4:4q35.1-35.2		 likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 copy number gain See cases [RCV000143010] Chr4:180717850..190095391 [GRCh38]
Chr4:181639003..190828225 [GRCh37]
Chr4:181875997..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 copy number loss See cases [RCV000143626] Chr4:176756632..189621964 [GRCh38]
Chr4:177677786..190543118 [GRCh37]
Chr4:177914780..190780112 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3 copy number gain See cases [RCV000143575] Chr4:185601825..187530334 [GRCh38]
Chr4:186522979..188451488 [GRCh37]
Chr4:186759973..188688482 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1 copy number loss See cases [RCV000239790] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1 copy number loss See cases [RCV000239851] Chr4:178243625..190713650 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1 copy number loss See cases [RCV000240072] Chr4:185941418..189180194 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)x1 copy number loss See cases [RCV000449363] Chr4:185381293..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1 copy number loss See cases [RCV000449221] Chr4:185253508..190713591 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1 copy number loss See cases [RCV000446613] Chr4:175550289..190838582 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)x3 copy number gain See cases [RCV000446235] Chr4:185978583..188762387 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186252440-190713591)x1 copy number loss See cases [RCV000446459] Chr4:186252440..190713591 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1 copy number loss See cases [RCV000445881] Chr4:175749001..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.2(chr4:187210595-187476383)x3 copy number gain See cases [RCV000448980] Chr4:187210595..187476383 [GRCh37]
Chr4:4q35.2		 benign
GRCh37/hg19 4q35.2(chr4:187367725-187476383)x3 copy number gain See cases [RCV000448641] Chr4:187367725..187476383 [GRCh37]
Chr4:4q35.2		 conflicting data from submitters
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1 copy number loss See cases [RCV000448048] Chr4:175550289..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1 copy number loss See cases [RCV000512074] Chr4:184852835..190957473 [GRCh37]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185958310-189223175)x3 copy number gain See cases [RCV000510660] Chr4:185958310..189223175 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3 copy number gain See cases [RCV000511078] Chr4:176306103..190957473 [GRCh37]
Chr4:4q34.2-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186349585-190957473)x1 copy number loss See cases [RCV000510959] Chr4:186349585..190957473 [GRCh37]
Chr4:4q35.1-35.2		 likely pathogenic
NM_005958.4(MTNR1A):c.337G>A (p.Gly113Ser) single nucleotide variant Inborn genetic diseases [RCV003264809] Chr4:186534405 [GRCh38]
Chr4:187455559 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3 copy number gain See cases [RCV000512153] Chr4:180702769..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q35.2(chr4:187333416-187518766)x3 copy number gain not provided [RCV000659198] Chr4:187333416..187518766 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:169969014..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1 copy number loss not provided [RCV000682492] Chr4:175709188..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3 copy number gain not provided [RCV000682497] Chr4:185017749..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186496069-189142432)x3 copy number gain not provided [RCV000682499] Chr4:186496069..189142432 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q35.2(chr4:187106869-188449414)x3 copy number gain not provided [RCV000682501] Chr4:187106869..188449414 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q35.2(chr4:187179134-187866865)x3 copy number gain not provided [RCV000682502] Chr4:187179134..187866865 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3 copy number gain not provided [RCV000682495] Chr4:178771936..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
Single allele deletion not provided [RCV000677918] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
Single allele duplication not provided [RCV000677955] Chr4:187124385..187638862 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1 copy number loss not provided [RCV000682493] Chr4:176493246..190957473 [GRCh37]
Chr4:4q34.2-35.2		 pathogenic
GRCh37/hg19 4q35.2(chr4:187210329-187942708)x3 copy number gain not provided [RCV000682503] Chr4:187210329..187942708 [GRCh37]
Chr4:4q35.2		 uncertain significance
Single allele duplication Autism [RCV000754289] Chr4:185324779..188495308 [GRCh38]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:183157313-191028879)x1 copy number loss not provided [RCV000744206] Chr4:183157313..191028879 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3 copy number gain not provided [RCV000744219] Chr4:184040122..187880098 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:185137253-190915650)x1 copy number loss not provided [RCV000744226] Chr4:185137253..190915650 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1 copy number loss not provided [RCV000998343] Chr4:183245174..190948359 [GRCh37]
Chr4:4q35.1-35.2		 likely pathogenic
NC_000004.12:g.(?_186149141)_(186709827_?)del deletion not provided [RCV001032116] Chr4:187070295..187630981 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) copy number loss not provided [RCV000767793] Chr4:174610492..190427545 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
NM_005958.4(MTNR1A):c.588C>T (p.Phe196=) single nucleotide variant not provided [RCV000940843] Chr4:186534154 [GRCh38]
Chr4:187455308 [GRCh37]
Chr4:4q35.2		 likely benign
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:171663620..190431429 [GRCh37]
Chr4:4q33-35.2		 pathogenic
NM_005958.4(MTNR1A):c.271A>T (p.Asn91Tyr) single nucleotide variant Inborn genetic diseases [RCV003248399] Chr4:186534471 [GRCh38]
Chr4:187455625 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1 copy number loss not provided [RCV000849865] Chr4:179996712..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1 copy number loss not provided [RCV000846268] Chr4:177189906..190816266 [GRCh37]
Chr4:4q34.2-35.2		 pathogenic
NC_000004.12:g.(?_185684754)_(186709827_?)del deletion not provided [RCV000798147] Chr4:185684754..186709827 [GRCh38]
Chr4:186605908..187630981 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1 copy number loss not provided [RCV001005626] Chr4:178566256..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.2(chr4:187161749-187522422)x3 copy number gain not provided [RCV000849339] Chr4:187161749..187522422 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1 copy number loss not provided [RCV000846185] Chr4:184648532..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3 copy number gain not provided [RCV001005627] Chr4:179752903..187987047 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
NM_005958.4(MTNR1A):c.945A>G (p.Thr315=) single nucleotide variant not provided [RCV001658511] Chr4:186533797 [GRCh38]
Chr4:187454951 [GRCh37]
Chr4:4q35.2		 benign
NM_005958.4(MTNR1A):c.635T>C (p.Ile212Thr) single nucleotide variant not provided [RCV000974508] Chr4:186534107 [GRCh38]
Chr4:187455261 [GRCh37]
Chr4:4q35.2		 benign
GRCh37/hg19 4q35.2(chr4:187249893-188428905)x1 copy number loss not provided [RCV001005637] Chr4:187249893..188428905 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_005958.4(MTNR1A):c.470C>T (p.Ala157Val) single nucleotide variant not provided [RCV000889212] Chr4:186534272 [GRCh38]
Chr4:187455426 [GRCh37]
Chr4:4q35.2		 benign
GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1 copy number loss not provided [RCV002472626] Chr4:183694501..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1 copy number loss not provided [RCV002472580] Chr4:185748860..188413920 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3 copy number gain not provided [RCV001005631] Chr4:185785184..188207908 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q35.2(chr4:187406290-187684110)x3 copy number gain not provided [RCV001005638] Chr4:187406290..187684110 [GRCh37]
Chr4:4q35.2		 likely benign
NM_005958.4(MTNR1A):c.924A>G (p.Arg308=) single nucleotide variant not provided [RCV001652792] Chr4:186533818 [GRCh38]
Chr4:187454972 [GRCh37]
Chr4:4q35.2		 benign
GRCh37/hg19 4q35.2(chr4:187391214-190957473)x1 copy number loss not provided [RCV001258672] Chr4:187391214..190957473 [GRCh37]
Chr4:4q35.2		 pathogenic
GRCh37/hg19 4q35.2(chr4:187299348-187530184)x3 copy number gain not provided [RCV001258673] Chr4:187299348..187530184 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) copy number loss Atypical behavior [RCV001291982] Chr4:179554876..190916678 [GRCh37]
Chr4:4q34.3-35.2		 likely pathogenic
NC_000004.11:g.(?_186997774)_(187630981_?)del deletion not provided [RCV001383167] Chr4:186997774..187630981 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
NM_005958.4(MTNR1A):c.185-154del deletion not provided [RCV001538678] Chr4:186534711 [GRCh38]
Chr4:187455865 [GRCh37]
Chr4:4q35.2		 benign
NC_000004.12:g.186533547T>C single nucleotide variant not provided [RCV001674716] Chr4:186533547 [GRCh38]
Chr4:187454701 [GRCh37]
Chr4:4q35.2		 benign
Single allele deletion Hereditary factor XI deficiency disease [RCV002280381] Chr4:186194495..190175048 [GRCh38]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473) copy number gain not specified [RCV002053471] Chr4:175855408..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473) copy number loss not specified [RCV002053475] Chr4:185381293..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473) copy number loss not specified [RCV002053473] Chr4:183221828..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.2(chr4:187210620-187942708)x3 copy number gain not provided [RCV001827807] Chr4:187210620..187942708 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:159755174..190225765 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387) copy number gain not specified [RCV002053476] Chr4:185978583..188762387 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:186686044-190842022) copy number gain not specified [RCV002053478] Chr4:186686044..190842022 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
NC_000004.11:g.(?_186064527)_(187630981_?)del deletion Herpes simplex encephalitis, susceptibility to, 1 [RCV001877781]|not provided [RCV003120734] Chr4:186064527..187630981 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000004.11:g.(?_186423448)_(187630981_?)dup duplication not provided [RCV001982176] Chr4:186423448..187630981 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1 copy number loss See cases [RCV002292211] Chr4:185211271..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 copy number loss See cases [RCV002292706] Chr4:167779888..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1 copy number loss FETAL DEMISE [RCV002282976] Chr4:174944132..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186473718-187912600)x3 copy number gain Hemifacial microsomia [RCV002281676] Chr4:186473718..187912600 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
NM_005958.4(MTNR1A):c.1033G>A (p.Val345Ile) single nucleotide variant Inborn genetic diseases [RCV002969762] Chr4:186533709 [GRCh38]
Chr4:187454863 [GRCh37]
Chr4:4q35.2		 likely benign
NM_005958.4(MTNR1A):c.274G>A (p.Gly92Arg) single nucleotide variant Inborn genetic diseases [RCV002708020] Chr4:186534468 [GRCh38]
Chr4:187455622 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_005958.4(MTNR1A):c.155T>C (p.Val52Ala) single nucleotide variant Inborn genetic diseases [RCV003001707] Chr4:186555211 [GRCh38]
Chr4:187476365 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_005958.4(MTNR1A):c.602T>A (p.Ile201Asn) single nucleotide variant Inborn genetic diseases [RCV002873176] Chr4:186534140 [GRCh38]
Chr4:187455294 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_005958.4(MTNR1A):c.6G>C (p.Gln2His) single nucleotide variant Inborn genetic diseases [RCV002807364] Chr4:186555360 [GRCh38]
Chr4:187476514 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_005958.4(MTNR1A):c.13G>C (p.Gly5Arg) single nucleotide variant Inborn genetic diseases [RCV003358671] Chr4:186555353 [GRCh38]
Chr4:187476507 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:187040986-190957473)x1 copy number loss not provided [RCV003485446] Chr4:187040986..190957473 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:186805036-188558860)x1 copy number loss not provided [RCV003485444] Chr4:186805036..188558860 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
Single allele deletion not provided [RCV003448667] Chr4:180937545..190915069 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 copy number gain not provided [RCV003484595] Chr4:167409608..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 copy number loss not specified [RCV003986532] Chr4:161589441..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q35.2(chr4:187424629-187554043)x1 copy number loss not specified [RCV003986491] Chr4:187424629..187554043 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 copy number loss not provided [RCV003885510] Chr4:169060637..191154276 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:292
Count of miRNA genes:265
Interacting mature miRNAs:276
Transcripts:ENST00000307161, ENST00000509111
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-50590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,471,025 - 187,471,161UniSTSGRCh37
Build 364187,708,019 - 187,708,155RGDNCBI36
Celera4184,791,908 - 184,792,044RGD
Cytogenetic Map4q35.1UniSTS
HuRef4183,218,222 - 183,218,358UniSTS
MTNR1A__1188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,454,641 - 187,455,504UniSTSGRCh37
Build 364187,691,635 - 187,692,498RGDNCBI36
Celera4184,775,326 - 184,776,189RGD
HuRef4183,201,918 - 183,202,781UniSTS
D4S2827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,471,025 - 187,471,157UniSTSGRCh37
Build 364187,708,019 - 187,708,151RGDNCBI36
Celera4184,791,908 - 184,792,040RGD
Cytogenetic Map4q35.1UniSTS
HuRef4183,218,222 - 183,218,354UniSTS
Stanford-G3 RH Map410136.0UniSTS
Whitehead-RH Map4746.2UniSTS
Whitehead-YAC Contig Map4 UniSTS
MARC_9493-9494:997213710:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,455,066 - 187,455,520UniSTSGRCh37
Celera4184,775,751 - 184,776,205UniSTS
HuRef4183,202,343 - 183,202,797UniSTS


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 2 1 1
Low 244 1 13 43 9 10 177 11 387 120 412 71 34 5
Below cutoff 713 492 276 184 183 90 850 266 1539 126 278 369 100 179 595

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000307161   ⟹   ENSP00000302811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4186,533,655 - 186,555,567 (-)Ensembl
RefSeq Acc Id: ENST00000703170   ⟹   ENSP00000515216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4186,526,792 - 186,555,567 (-)Ensembl
RefSeq Acc Id: NM_005958   ⟹   NP_005949
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,533,655 - 186,555,567 (-)NCBI
GRCh374187,454,809 - 187,476,537 (-)ENTREZGENE
Build 364187,691,803 - 187,713,531 (-)NCBI Archive
HuRef4183,202,086 - 183,223,734 (-)ENTREZGENE
CHM1_14187,431,225 - 187,453,137 (-)NCBI
T2T-CHM13v2.04189,880,029 - 189,902,297 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532002   ⟹   XP_011530304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,533,655 - 186,538,711 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054350094   ⟹   XP_054206069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04189,880,029 - 189,885,084 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_005949   ⟸   NM_005958
- UniProtKB: A0AVC5 (UniProtKB/Swiss-Prot),   B0M0L2 (UniProtKB/Swiss-Prot),   P48039 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530304   ⟸   XM_011532002
- Peptide Label: isoform X1
- UniProtKB: Q29RX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000302811   ⟸   ENST00000307161
RefSeq Acc Id: ENSP00000515216   ⟸   ENST00000703170
RefSeq Acc Id: XP_054206069   ⟸   XM_054350094
- Peptide Label: isoform X1
- UniProtKB: Q29RX9 (UniProtKB/TrEMBL)
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48039-F1-model_v2 AlphaFold P48039 1-350 view protein structure

Promoters
RGD ID:6869090
Promoter ID:EPDNEW_H7710
Type:initiation region
Name:MTNR1A_1
Description:melatonin receptor 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,555,501 - 186,555,561EPDNEW
RGD ID:6812556
Promoter ID:HG_ACW:62064
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:MTNR1A.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 364187,696,086 - 187,696,586 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7463 AgrOrtholog
COSMIC MTNR1A COSMIC
Ensembl Genes ENSG00000168412 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307161 ENTREZGENE
  ENST00000307161.5 UniProtKB/Swiss-Prot
  ENST00000703170.1 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168412 GTEx
HGNC ID HGNC:7463 ENTREZGENE
Human Proteome Map MTNR1A Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mel_1A/1B_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Melatonin_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4543 UniProtKB/Swiss-Prot
NCBI Gene 4543 ENTREZGENE
OMIM 600665 OMIM
PANTHER B2 BRADYKININ RECEPTOR/ANGIOTENSIN II RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MELATONIN RECEPTOR TYPE 1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31267 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MELATONIN1AR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MELATONINR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AVC5 ENTREZGENE
  B0M0L2 ENTREZGENE
  MTR1A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q29RX9 ENTREZGENE, UniProtKB/TrEMBL
  Q8WZ72_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0AVC5 UniProtKB/Swiss-Prot
  B0M0L2 UniProtKB/Swiss-Prot