OR5H14 (olfactory receptor family 5 subfamily H member 14) - Rat Genome Database

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Gene: OR5H14 (olfactory receptor family 5 subfamily H member 14) Homo sapiens
Analyze
Symbol: OR5H14
Name: olfactory receptor family 5 subfamily H member 14
RGD ID: 1347228
HGNC Page HGNC:31286
Description: Predicted to enable odorant binding 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 be located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: olfactory receptor 5H14; olfactory receptor, family 5, subfamily H, member 14; seven transmembrane helix receptor
RGD Orthologs
Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: OR5H3P   OR5H5P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38398,147,479 - 98,156,614 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl398,147,479 - 98,156,614 (+)EnsemblGRCh38hg38GRCh38
GRCh37397,866,323 - 97,875,458 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36399,350,920 - 99,351,852 (+)NCBINCBI36Build 36hg18NCBI36
Build 34399,350,919 - 99,351,852NCBI
Celera396,258,015 - 96,258,947 (+)NCBICelera
Cytogenetic Map3q11.2NCBI
HuRef395,238,141 - 95,239,073 (+)NCBIHuRef
CHM1_1397,831,252 - 97,832,184 (+)NCBICHM1_1
T2T-CHM13v2.03100,851,212 - 100,860,347 (+)NCBIT2T-CHM13v2.0
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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14983052   PMID:21873635   PMID:32126975  


Genomics

Comparative Map Data
OR5H14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38398,147,479 - 98,156,614 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl398,147,479 - 98,156,614 (+)EnsemblGRCh38hg38GRCh38
GRCh37397,866,323 - 97,875,458 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36399,350,920 - 99,351,852 (+)NCBINCBI36Build 36hg18NCBI36
Build 34399,350,919 - 99,351,852NCBI
Celera396,258,015 - 96,258,947 (+)NCBICelera
Cytogenetic Map3q11.2NCBI
HuRef395,238,141 - 95,239,073 (+)NCBIHuRef
CHM1_1397,831,252 - 97,832,184 (+)NCBICHM1_1
T2T-CHM13v2.03100,851,212 - 100,860,347 (+)NCBIT2T-CHM13v2.0
Or5h25d
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81154,836,254 - 54,837,177 (+)NCBIGRCr8
mRatBN7.21141,367,051 - 41,367,974 (+)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx1150,096,175 - 50,097,098 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01142,767,467 - 42,768,390 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01141,896,106 - 41,897,029 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01143,465,370 - 43,466,293 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1143,465,370 - 43,466,293 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01146,652,158 - 46,653,081 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41142,167,273 - 42,168,196 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11142,224,861 - 42,225,785 (+)NCBI
Celera1141,179,154 - 41,180,077 (+)NCBICelera
Cytogenetic Map11q12NCBI

Variants

.
Variants in OR5H14
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1		 pathogenic
NM_001005514.1(OR5H14):c.224C>T (p.Ser75Phe) single nucleotide variant Malignant melanoma [RCV000060880] Chr3:98149609 [GRCh38]
Chr3:97868453 [GRCh37]
Chr3:99351143 [NCBI36]
Chr3:3q11.2		 not provided
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31		 pathogenic
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 copy number loss See cases [RCV000138186] Chr3:97795369..115663349 [GRCh38]
Chr3:97514213..115382196 [GRCh37]
Chr3:98996903..116864886 [NCBI36]
Chr3:3q11.2-13.31		 pathogenic|uncertain significance
GRCh38/hg38 3q11.2(chr3:98023760-98332789)x1 copy number loss See cases [RCV000138146] Chr3:98023760..98332789 [GRCh38]
Chr3:97742604..98051633 [GRCh37]
Chr3:99225294..99534323 [NCBI36]
Chr3:3q11.2		 likely benign
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3 copy number gain See cases [RCV000143259] Chr3:93819623..103888749 [GRCh38]
Chr3:93538467..103607593 [GRCh37]
Chr3:95021157..105090283 [NCBI36]
Chr3:3q11.1-13.11		 likely pathogenic|uncertain significance
GRCh37/hg19 3q11.2(chr3:96575117-98212517)x3 copy number gain See cases [RCV000448437] Chr3:96575117..98212517 [GRCh37]
Chr3:3q11.2		 uncertain significance
GRCh37/hg19 3q11.2(chr3:96579273-98216225)x3 copy number gain See cases [RCV000510411] Chr3:96579273..98216225 [GRCh37]
Chr3:3q11.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q11.2(chr3:97650137-98174233)x3 copy number gain See cases [RCV000512476] Chr3:97650137..98174233 [GRCh37]
Chr3:3q11.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q11.2(chr3:97866177-97888337)x3 copy number gain not provided [RCV000742636] Chr3:97866177..97888337 [GRCh37]
Chr3:3q11.2		 benign
GRCh37/hg19 3q11.2(chr3:96850456-97974150)x3 copy number gain not provided [RCV001005454] Chr3:96850456..97974150 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.149G>T (p.Trp50Leu) single nucleotide variant Inborn genetic diseases [RCV003290907] Chr3:98149534 [GRCh38]
Chr3:97868378 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.657A>G (p.Ile219Met) single nucleotide variant Inborn genetic diseases [RCV003250050] Chr3:98150042 [GRCh38]
Chr3:97868886 [GRCh37]
Chr3:3q11.2		 uncertain significance
GRCh37/hg19 3q11.2-12.1(chr3:97606054-98499715)x3 copy number gain not provided [RCV001005456] Chr3:97606054..98499715 [GRCh37]
Chr3:3q11.2-12.1		 uncertain significance
GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1 copy number loss not provided [RCV001259224] Chr3:95563096..102371126 [GRCh37]
Chr3:3q11.2-12.3		 likely pathogenic
GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3 copy number gain not provided [RCV002221455] Chr3:72488757..99614758 [GRCh37]
Chr3:3p13-q12.1		 likely pathogenic
GRCh37/hg19 3q11.2(chr3:97283117-98218677)x3 copy number gain not provided [RCV002475836] Chr3:97283117..98218677 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.368A>T (p.Tyr123Phe) single nucleotide variant Inborn genetic diseases [RCV002859556] Chr3:98149753 [GRCh38]
Chr3:97868597 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.69G>T (p.Trp23Cys) single nucleotide variant Inborn genetic diseases [RCV002992281] Chr3:98149454 [GRCh38]
Chr3:97868298 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.730C>A (p.His244Asn) single nucleotide variant Inborn genetic diseases [RCV002973359] Chr3:98150115 [GRCh38]
Chr3:97868959 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.541A>T (p.Ile181Phe) single nucleotide variant Inborn genetic diseases [RCV002734602] Chr3:98149926 [GRCh38]
Chr3:97868770 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.647T>C (p.Ile216Thr) single nucleotide variant Inborn genetic diseases [RCV002779439] Chr3:98150032 [GRCh38]
Chr3:97868876 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.421T>A (p.Cys141Ser) single nucleotide variant Inborn genetic diseases [RCV002888629] Chr3:98149806 [GRCh38]
Chr3:97868650 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.386C>G (p.Pro129Arg) single nucleotide variant Inborn genetic diseases [RCV002916894] Chr3:98149771 [GRCh38]
Chr3:97868615 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.671C>G (p.Thr224Arg) single nucleotide variant Inborn genetic diseases [RCV002712223] Chr3:98150056 [GRCh38]
Chr3:97868900 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.780G>C (p.Met260Ile) single nucleotide variant Inborn genetic diseases [RCV002986430] Chr3:98150165 [GRCh38]
Chr3:97869009 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.709G>T (p.Ala237Ser) single nucleotide variant Inborn genetic diseases [RCV002789098] Chr3:98150094 [GRCh38]
Chr3:97868938 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.668A>G (p.Tyr223Cys) single nucleotide variant Inborn genetic diseases [RCV002939470] Chr3:98150053 [GRCh38]
Chr3:97868897 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.554T>C (p.Leu185Ser) single nucleotide variant Inborn genetic diseases [RCV002725207] Chr3:98149939 [GRCh38]
Chr3:97868783 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.555A>T (p.Leu185Phe) single nucleotide variant Inborn genetic diseases [RCV002725208] Chr3:98149940 [GRCh38]
Chr3:97868784 [GRCh37]
Chr3:3q11.2		 likely benign
NM_001005514.2(OR5H14):c.113C>T (p.Thr38Ile) single nucleotide variant Inborn genetic diseases [RCV002678563] Chr3:98149498 [GRCh38]
Chr3:97868342 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.500C>A (p.Thr167Asn) single nucleotide variant Inborn genetic diseases [RCV003183244] Chr3:98149885 [GRCh38]
Chr3:97868729 [GRCh37]
Chr3:3q11.2		 uncertain significance
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
NM_001005514.2(OR5H14):c.61C>G (p.Pro21Ala) single nucleotide variant Inborn genetic diseases [RCV003378435] Chr3:98149446 [GRCh38]
Chr3:97868290 [GRCh37]
Chr3:3q11.2		 uncertain significance
NM_001005514.2(OR5H14):c.739T>C (p.Ser247Pro) single nucleotide variant Inborn genetic diseases [RCV003356281] Chr3:98150124 [GRCh38]
Chr3:97868968 [GRCh37]
Chr3:3q11.2		 uncertain significance
GRCh37/hg19 3q11.2(chr3:97542156-98076080)x1 copy number loss not provided [RCV003485395] Chr3:97542156..98076080 [GRCh37]
Chr3:3q11.2		 uncertain significance
GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3 copy number gain not specified [RCV003986472] Chr3:93519465..101464485 [GRCh37]
Chr3:3q11.1-12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:57
Count of miRNA genes:53
Interacting mature miRNAs:54
Transcripts:ENST00000437310
Prediction methods:Microtar, 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
High
Medium
Low 3 1 3 14 2 2 62 1 1
Below cutoff 52 51 21 7 41 5 92 40 42 4 289 20 2 9 43

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000437310   ⟹   ENSP00000401706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl398,149,326 - 98,150,405 (+)Ensembl
RefSeq Acc Id: ENST00000641380   ⟹   ENSP00000493226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl398,147,479 - 98,156,614 (+)Ensembl
RefSeq Acc Id: NM_001005514   ⟹   NP_001005514
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38398,147,479 - 98,156,614 (+)NCBI
GRCh37397,868,230 - 97,869,162 (+)RGD
Build 36399,350,920 - 99,351,852 (+)NCBI Archive
Celera396,258,015 - 96,258,947 (+)RGD
HuRef395,238,141 - 95,239,073 (+)ENTREZGENE
CHM1_1397,831,252 - 97,832,184 (+)NCBI
T2T-CHM13v2.03100,851,212 - 100,860,347 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001005514 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NHG9 (Get FASTA)   NCBI Sequence Viewer  
  AAI36985 (Get FASTA)   NCBI Sequence Viewer  
  ALI87659 (Get FASTA)   NCBI Sequence Viewer  
  BAC05719 (Get FASTA)   NCBI Sequence Viewer  
  EAW79868 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000401706.1
  ENSP00000493226
  ENSP00000493226.1
Reference Protein Sequences
RefSeq Acc Id: NP_001005514   ⟸   NM_001005514
- UniProtKB: B9EH15 (UniProtKB/Swiss-Prot),   A6NHG9 (UniProtKB/Swiss-Prot),   A0A126GW51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000493226   ⟸   ENST00000641380
RefSeq Acc Id: ENSP00000401706   ⟸   ENST00000437310
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NHG9-F1-model_v2 AlphaFold A6NHG9 1-310 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31286 AgrOrtholog
COSMIC OR5H14 COSMIC
Ensembl Genes ENSG00000236032 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000437310.1 UniProtKB/Swiss-Prot
  ENST00000641380 ENTREZGENE
  ENST00000641380.1 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000236032 GTEx
HGNC ID HGNC:31286 ENTREZGENE
Human Proteome Map OR5H14 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:403273 UniProtKB/Swiss-Prot
NCBI Gene 403273 ENTREZGENE
PANTHER OLFACTORY RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORY RECEPTOR 5H14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134948167 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
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A126GW51 ENTREZGENE, UniProtKB/TrEMBL
  A6NHG9 ENTREZGENE
  B9EH15 ENTREZGENE
  O5H14_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B9EH15 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR5H14  olfactory receptor family 5 subfamily H member 14  OR5H14  olfactory receptor, family 5, subfamily H, member 14  Symbol and/or name change 5135510 APPROVED