OR2AK2 (olfactory receptor family 2 subfamily AK member 2) - Rat Genome Database
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Gene: OR2AK2 (olfactory receptor family 2 subfamily AK member 2) Homo sapiens
Analyze
Symbol: OR2AK2
Name: olfactory receptor family 2 subfamily AK member 2
RGD ID: 1343468
HGNC Page HGNC
Description: Predicted to have G protein-coupled receptor activity and olfactory receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and detection of chemical stimulus involved in sensory perception of smell. Predicted to localize to plasma membrane.
Type: protein-coding
RefSeq Status: PROVISIONAL
Also known as: olfactory receptor 2AK1; olfactory receptor 2AK2; olfactory receptor OR1-47; olfactory receptor, family 2, subfamily AK, member 1 pseudogene; olfactory receptor, family 2, subfamily AK, member 2; OR1-47; OR2AK1P
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
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
GRCh38.p13 Ensembl1247,965,233 - 247,966,386 (+)EnsemblGRCh38hg38GRCh38
GRCh381247,965,332 - 247,966,339 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371248,128,634 - 248,129,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,195,257 - 246,196,264 (+)NCBINCBI36hg18NCBI36
Build 341244,454,674 - 244,455,682NCBI
Celera1221,414,211 - 221,415,218 (+)NCBI
Cytogenetic Map1q44NCBI
HuRef1218,512,336 - 218,513,343 (+)NCBIHuRef
CHM1_11249,400,963 - 249,401,970 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
aflatoxin B1  (EXP)
bisphenol A  (ISO)
DDT  (ISO)
folic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14983052   PMID:21873635  


Genomics

Comparative Map Data
OR2AK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1247,965,233 - 247,966,386 (+)EnsemblGRCh38hg38GRCh38
GRCh381247,965,332 - 247,966,339 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371248,128,634 - 248,129,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,195,257 - 246,196,264 (+)NCBINCBI36hg18NCBI36
Build 341244,454,674 - 244,455,682NCBI
Celera1221,414,211 - 221,415,218 (+)NCBI
Cytogenetic Map1q44NCBI
HuRef1218,512,336 - 218,513,343 (+)NCBIHuRef
CHM1_11249,400,963 - 249,401,970 (+)NCBICHM1_1
Olfr319
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391158,592,529 - 58,593,449 (+)NCBIGRCm39mm39
GRCm381158,701,703 - 58,702,623 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1158,699,162 - 58,703,472 (+)EnsemblGRCm38mm10GRCm38
MGSCv371158,515,205 - 58,516,125 (+)NCBIGRCm37mm9NCBIm37
MGSCv361158,517,898 - 58,518,818 (+)NCBImm8
Celera1163,462,638 - 63,463,558 (+)NCBICelera
Cytogenetic Map11B1.3NCBI
Olr1442
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01044,527,468 - 44,528,382 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1044,527,468 - 44,528,382 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01044,289,552 - 44,290,466 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41044,775,219 - 44,776,133 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11044,788,841 - 44,789,756 (+)NCBI
Celera1042,550,578 - 42,551,492 (+)NCBICelera
Cytogenetic Map10q22NCBI
LOC106634333
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11229,057,032 - 229,058,039 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01223,608,736 - 223,610,145 (+)NCBIMhudiblu_PPA_v0panPan3
OR2AK3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl141,297,277 - 1,298,185 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1141,297,220 - 1,298,185 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
LOC102163216
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1255,749,194 - 55,750,123 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2256,377,473 - 56,378,447 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC119619690
(Chlorocebus sabaeus - African green monkey)		 No map positions available.

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:40
Count of miRNA genes:40
Interacting mature miRNAs:40
Transcripts:ENST00000366480
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.


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 entire extraembryonic component
High
Medium
Low 1 9 11 6 1 14 124 6 5
Below cutoff 259 175 461 41 323 11 619 107 1573 26 456 418 30 147 386 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000366480   ⟹   ENSP00000355436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1247,965,233 - 247,966,386 (+)Ensembl
RefSeq Acc Id: NM_001004491   ⟹   NP_001004491
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,965,332 - 247,966,339 (+)NCBI
GRCh371248,128,634 - 248,129,641 (+)RGD
Build 361246,195,257 - 246,196,264 (+)NCBI Archive
Celera1221,414,211 - 221,415,218 (+)RGD
HuRef1218,512,336 - 218,513,343 (+)RGD
CHM1_11249,400,963 - 249,401,970 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001004491   ⟸   NM_001004491
- UniProtKB: Q8NG84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000355436   ⟸   ENST00000366480
Protein Domains
G_PROTEIN_RECEP_F1_2


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q44(chr1:247682931-248609256)x3 copy number gain See cases [RCV000051191] Chr1:247682931..248609256 [GRCh38]
Chr1:247846233..248772557 [GRCh37]
Chr1:245912856..246839180 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3 copy number gain See cases [RCV000053504] Chr1:242828731..248891309 [GRCh38]
Chr1:242992033..249185508 [GRCh37]
Chr1:241058656..247152131 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|See cases [RCV000053506] Chr1:243055227..248918469 [GRCh38]
Chr1:243218529..249212668 [GRCh37]
Chr1:241285152..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q44(chr1:245584222-248918610)x1 copy number loss See cases [RCV000054067] Chr1:245584222..248918610 [GRCh38]
Chr1:245747524..249212809 [GRCh37]
Chr1:243814147..247179432 [NCBI36]
Chr1:1q44		 pathogenic
GRCh38/hg38 1q44(chr1:246386899-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054068]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054068]|See cases [RCV000054068] Chr1:246386899..248918469 [GRCh38]
Chr1:246550201..249212668 [GRCh37]
Chr1:244616824..247179291 [NCBI36]
Chr1:1q44		 pathogenic
GRCh38/hg38 1q44(chr1:247092432-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054069]|See cases [RCV000054069] Chr1:247092432..248918469 [GRCh38]
Chr1:247255734..249212668 [GRCh37]
Chr1:245322357..247179291 [NCBI36]
Chr1:1q44		 pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 copy number loss See cases [RCV000054028] Chr1:241757249..248891309 [GRCh38]
Chr1:241920551..249185508 [GRCh37]
Chr1:239987174..247152131 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|See cases [RCV000054029] Chr1:242076868..248918469 [GRCh38]
Chr1:242240170..249212668 [GRCh37]
Chr1:240306793..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q44(chr1:243786629-248918469)x1 copy number loss See cases [RCV000054061] Chr1:243786629..248918469 [GRCh38]
Chr1:243949931..249212668 [GRCh37]
Chr1:242016554..247179291 [NCBI36]
Chr1:1q44		 pathogenic
GRCh38/hg38 1q44(chr1:244498870-248918610)x1 copy number loss See cases [RCV000054064] Chr1:244498870..248918610 [GRCh38]
Chr1:244662172..249212809 [GRCh37]
Chr1:242728795..247179432 [NCBI36]
Chr1:1q44		 pathogenic
GRCh38/hg38 1q44(chr1:245312815-248918469)x3 copy number gain See cases [RCV000133864] Chr1:245312815..248918469 [GRCh38]
Chr1:245476117..249212668 [GRCh37]
Chr1:243542740..247179291 [NCBI36]
Chr1:1q44		 pathogenic
GRCh38/hg38 1q44(chr1:247613108-248093562)x3 copy number gain See cases [RCV000133783] Chr1:247613108..248093562 [GRCh38]
Chr1:247776410..248256864 [GRCh37]
Chr1:245843033..246323487 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q44(chr1:244582123-248918469)x1 copy number loss See cases [RCV000135611] Chr1:244582123..248918469 [GRCh38]
Chr1:244745425..249212668 [GRCh37]
Chr1:242812048..247179291 [NCBI36]
Chr1:1q44		 pathogenic
GRCh38/hg38 1q44(chr1:247798967-248521608)x3 copy number gain See cases [RCV000136496] Chr1:247798967..248521608 [GRCh38]
Chr1:247962269..248684909 [GRCh37]
Chr1:246028892..246751532 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q44(chr1:247682929-248093696)x3 copy number gain See cases [RCV000136013] Chr1:247682929..248093696 [GRCh38]
Chr1:247846231..248256998 [GRCh37]
Chr1:245912854..246323621 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q44(chr1:247682931-248093562)x3 copy number gain See cases [RCV000137046] Chr1:247682931..248093562 [GRCh38]
Chr1:247846233..248256864 [GRCh37]
Chr1:245912856..246323487 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4 copy number gain See cases [RCV000137155] Chr1:242932576..248864636 [GRCh38]
Chr1:243095878..249158835 [GRCh37]
Chr1:241162501..247125458 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q44(chr1:247389261-248472496)x3 copy number gain See cases [RCV000137367] Chr1:247389261..248472496 [GRCh38]
Chr1:247552563..248635797 [GRCh37]
Chr1:245619186..246702420 [NCBI36]
Chr1:1q44		 likely benign
GRCh38/hg38 1q44(chr1:247798967-248376495)x1 copy number loss See cases [RCV000138075] Chr1:247798967..248376495 [GRCh38]
Chr1:247962269..248539796 [GRCh37]
Chr1:246028892..246606419 [NCBI36]
Chr1:1q44		 likely benign
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q44(chr1:247613235-248521590)x3 copy number gain See cases [RCV000138760] Chr1:247613235..248521590 [GRCh38]
Chr1:247776537..248684891 [GRCh37]
Chr1:245843160..246751514 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q44(chr1:247682929-248521590)x3 copy number gain See cases [RCV000139219] Chr1:247682929..248521590 [GRCh38]
Chr1:247846231..248684891 [GRCh37]
Chr1:245912854..246751514 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q44(chr1:247682929-248622297)x3 copy number gain See cases [RCV000138963] Chr1:247682929..248622297 [GRCh38]
Chr1:247846231..248785598 [GRCh37]
Chr1:245912854..246852221 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 copy number loss See cases [RCV000139889] Chr1:242045279..248930485 [GRCh38]
Chr1:242208581..249224684 [GRCh37]
Chr1:240275204..247191307 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q44(chr1:247671583-248317448)x3 copy number gain See cases [RCV000141216] Chr1:247671583..248317448 [GRCh38]
Chr1:247834885..248480750 [GRCh37]
Chr1:245901508..246547373 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q44(chr1:247930527-248622261)x3 copy number gain See cases [RCV000141453] Chr1:247930527..248622261 [GRCh38]
Chr1:248093829..248785562 [GRCh37]
Chr1:246160452..246852185 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q44(chr1:247716624-248114768)x3 copy number gain See cases [RCV000142608] Chr1:247716624..248114768 [GRCh38]
Chr1:247879926..248278070 [GRCh37]
Chr1:245946549..246344693 [NCBI36]
Chr1:1q44		 benign
GRCh38/hg38 1q44(chr1:247404783-248472496)x3 copy number gain See cases [RCV000142763] Chr1:247404783..248472496 [GRCh38]
Chr1:247568085..248635797 [GRCh37]
Chr1:245634708..246702420 [NCBI36]
Chr1:1q44		 likely benign|uncertain significance
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4 copy number gain See cases [RCV000511337] Chr1:242324398..249224684 [GRCh37]
Chr1:1q43-44		 likely pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1 copy number loss See cases [RCV000240522] Chr1:243103401..249119318 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q44(chr1:247962269-248260734)x3 copy number gain See cases [RCV000445751] Chr1:247962269..248260734 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3 copy number gain See cases [RCV000448507] Chr1:242656460..249213000 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q44(chr1:244197791-249224684)x4 copy number gain See cases [RCV000510563] Chr1:244197791..249224684 [GRCh37]
Chr1:1q44		 likely pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q44(chr1:246753355-249224684)x3 copy number gain See cases [RCV000512337] Chr1:246753355..249224684 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q44(chr1:244797639-249224684)x1 copy number loss not provided [RCV000684725] Chr1:244797639..249224684 [GRCh37]
Chr1:1q44		 pathogenic
GRCh37/hg19 1q44(chr1:247846257-249224684)x1 copy number loss not provided [RCV000684732] Chr1:247846257..249224684 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q44(chr1:247710624-248142049)x1 copy number loss not provided [RCV000736952] Chr1:247710624..248142049 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q44(chr1:247828797-248266555)x3 copy number gain not provided [RCV000736953] Chr1:247828797..248266555 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q44(chr1:247828797-248286356)x3 copy number gain not provided [RCV000736954] Chr1:247828797..248286356 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q44(chr1:247828797-248290903)x3 copy number gain not provided [RCV000736955] Chr1:247828797..248290903 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q44(chr1:247828797-248322479)x3 copy number gain not provided [RCV000736956] Chr1:247828797..248322479 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q44(chr1:247828797-248795852)x3 copy number gain not provided [RCV000736957] Chr1:247828797..248795852 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q44(chr1:247896549-248131388)x3 copy number gain not provided [RCV000736958] Chr1:247896549..248131388 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q44(chr1:248071583-248843314)x3 copy number gain not provided [RCV000749443] Chr1:248071583..248843314 [GRCh37]
Chr1:1q44		 benign
NM_001004491.1(OR2AK2):c.92G>A (p.Gly31Asp) single nucleotide variant not provided [RCV000892503] Chr1:247965423 [GRCh38]
Chr1:248128725 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q44(chr1:245341153-249212429) copy number loss not provided [RCV000767543] Chr1:245341153..249212429 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_001004491.1(OR2AK2):c.348G>A (p.Thr116=) single nucleotide variant not provided [RCV000892504] Chr1:247965679 [GRCh38]
Chr1:248128981 [GRCh37]
Chr1:1q44		 benign
NM_001004491.1(OR2AK2):c.540G>A (p.Gln180=) single nucleotide variant not provided [RCV000892505] Chr1:247965871 [GRCh38]
Chr1:248129173 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q44(chr1:246565044-249224684)x1 copy number loss not provided [RCV000848153] Chr1:246565044..249224684 [GRCh37]
Chr1:1q44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787401] Chr1:247846701..248592414 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1q44(chr1:247576587-248688602)x4 copy number gain not provided [RCV000849147] Chr1:247576587..248688602 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1q44(chr1:244379481-249224684)x1 copy number loss not provided [RCV000845861] Chr1:244379481..249224684 [GRCh37]
Chr1:1q44		 pathogenic
NM_001004491.1(OR2AK2):c.669A>G (p.Leu223=) single nucleotide variant not provided [RCV000892506] Chr1:247966000 [GRCh38]
Chr1:248129302 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_001004491.1(OR2AK2):c.868G>A (p.Ala290Thr) single nucleotide variant not provided [RCV000892507] Chr1:247966199 [GRCh38]
Chr1:248129501 [GRCh37]
Chr1:1q44		 benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q44(chr1:246853199-249181899)x1 copy number loss not provided [RCV001259601] Chr1:246853199..249181899 [GRCh37]
Chr1:1q44		 likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19569 AgrOrtholog
COSMIC OR2AK2 COSMIC
Ensembl Genes ENSG00000187080 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355436 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000493202 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366480 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000641852 UniProtKB/Swiss-Prot
GTEx ENSG00000187080 GTEx
HGNC ID HGNC:19569 ENTREZGENE
Human Proteome Map OR2AK2 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Olfact_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:391191 UniProtKB/Swiss-Prot
NCBI Gene 391191 ENTREZGENE
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134921949 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.690413 ENTREZGENE
UniProt A0A126GVZ3_HUMAN UniProtKB/TrEMBL
  A0A2C9F2M8_HUMAN UniProtKB/TrEMBL
  O2AK2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RND1 UniProtKB/Swiss-Prot
  Q6IF05 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR2AK2  olfactory receptor family 2 subfamily AK member 2  OR2AK2  olfactory receptor, family 2, subfamily AK, member 2  Symbol and/or name change 5135510 APPROVED