HCAR2 (hydroxycarboxylic acid receptor 2)

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) (beta) 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) Overgo Probe Designer Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 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 PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

Gene: HCAR2 (hydroxycarboxylic acid receptor 2) Homo sapiens

Analyze

Symbol:

HCAR2

Name:

hydroxycarboxylic acid receptor 2

RGD ID:

1352808

HGNC Page

HGNC:24827

Description:

Predicted to enable nicotinic acid receptor activity. Involved in neutrophil apoptotic process and positive regulation of neutrophil apoptotic process. Located in cell junction and plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

G protein-coupled receptor 109A; G protein-coupled receptor HM74a; G-protein coupled receptor 109A; G-protein coupled receptor HM74A; GPR109A; HCA2; HM74a; HM74b; hydroxy-carboxylic acid receptor 2; niacin receptor 1; NIACR1; nicotinic acid receptor; Puma-g; PUMAG

RGD Orthologs

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	122,701,293 - 122,703,357 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	12	122,701,293 - 122,703,357 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	123,185,840 - 123,187,904 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	121,751,793 - 121,753,857 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	121,710,720 - 121,712,784	NCBI
Celera	12	122,792,105 - 122,794,164 (-)	NCBI		Celera
Cytogenetic Map	12	q24.31	NCBI
HuRef	12	120,146,199 - 120,148,263 (-)	NCBI		HuRef
CHM1_1	12	123,154,148 - 123,156,212 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	122,696,704 - 122,698,768 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Flushing (EXP)

genetic disease (IAGP)

psoriasis (EXP)

schizophrenia (EXP)

Skin Neoplasms (EXP)

squamous cell carcinoma (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-alpha-phellandrene (EXP)

17beta-estradiol (EXP,ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-hydroxypropanoic acid (EXP)

3',5'-cyclic AMP (EXP)

3-hydroxybutyric acid (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

3-phenylpropionic acid (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

alpha-phellandrene (EXP)

ammonium chloride (ISO)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bisphenol F (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

cholesterol (EXP)

cisplatin (EXP)

citraconic acid (EXP)

colforsin daropate hydrochloride (EXP)

cyclosporin A (EXP)

dexamethasone (EXP,ISO)

dioxygen (ISO)

folic acid (EXP)

gentamycin (ISO)

glyphosate (ISO)

gold atom (EXP)

gold(0) (EXP)

indometacin (EXP)

leflunomide (EXP)

lipopolysaccharide (EXP)

Muraglitazar (ISO)

nicotinic acid (EXP,ISO)

paracetamol (ISO)

protein kinase inhibitor (EXP)

pyrazoles (EXP,ISO)

rac-lactic acid (EXP)

rotenone (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

silicon dioxide (EXP,ISO)

sodium arsenite (EXP)

Tesaglitazar (ISO)

tetrachloromethane (ISO)

tetrazoles (EXP)

thioacetamide (ISO)

trans-cinnamic acid (EXP)

trichloroethene (ISO)

troglitazone (ISO)

urethane (EXP)

UTP (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

apoptotic process (IEA)

G protein-coupled receptor signaling pathway (IBA,IEA)

negative regulation of lipid catabolic process (ISS)

neutrophil apoptotic process (IDA)

positive regulation of adiponectin secretion (ISS)

positive regulation of neutrophil apoptotic process (IDA)

signal transduction (IEA)

Cellular Component

cell junction (IDA)

membrane (IEA)

plasma membrane (IBA,IDA,IEA,TAS)

Molecular Function

G protein-coupled receptor activity (IEA)

nicotinic acid receptor activity (IBA,ISS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Molecular identification of nicotinic acid receptor.	Soga T, etal., Biochem Biophys Res Commun 2003 Mar 28;303(1):364-9.

Additional References at PubMed

PMID:2834384	PMID:12044878	PMID:12477932	PMID:12522134	PMID:15489334	PMID:16018973	PMID:16674924	PMID:17932499	PMID:18639743	PMID:18787507	PMID:18983141	PMID:19136666
PMID:19141678	PMID:19502010	PMID:19633298	PMID:19913121	PMID:20184326	PMID:20380810	PMID:20460384	PMID:20628086	PMID:20655299	PMID:21167710	PMID:21454438	PMID:21655214
PMID:21768093	PMID:21873635	PMID:22267479	PMID:22962331	PMID:23526298	PMID:23658787	PMID:23770183	PMID:24215154	PMID:24371223	PMID:24662263	PMID:25329911	PMID:25361930
PMID:25375133	PMID:25463108	PMID:25690651	PMID:26656756	PMID:27570060	PMID:29263047	PMID:30659164	PMID:31617441	PMID:31734354	PMID:31858105	PMID:32039055	PMID:34777363
PMID:34852802

Genomics

Comparative Map Data

HCAR2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	122,701,293 - 122,703,357 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	12	122,701,293 - 122,703,357 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	123,185,840 - 123,187,904 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	121,751,793 - 121,753,857 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	121,710,720 - 121,712,784	NCBI
Celera	12	122,792,105 - 122,794,164 (-)	NCBI		Celera
Cytogenetic Map	12	q24.31	NCBI
HuRef	12	120,146,199 - 120,148,263 (-)	NCBI		HuRef
CHM1_1	12	123,154,148 - 123,156,212 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	122,696,704 - 122,698,768 (-)	NCBI		T2T-CHM13v2.0

Hcar2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	12	32,726,334 - 32,727,416 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	32,726,184 - 32,728,504 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	33,904,918 - 33,906,000 (+)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	12	34,516,272 - 34,517,354 (+)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	12	33,568,158 - 33,569,240 (+)	NCBI	Rnor_WKY
Rnor_6.0	12	38,160,464 - 38,161,546 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	38,160,464 - 38,161,546 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	40,029,980 - 40,031,062 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	33,863,876 - 33,864,958 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	33,727,263 - 33,728,346 (+)	NCBI
Celera	12	34,412,699 - 34,413,781 (+)	NCBI		Celera
Cytogenetic Map	12	q15	NCBI

Hcar2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955482	6,007,307 - 6,009,353 (+)	NCBI	ChiLan1.0	ChiLan1.0

HCAR2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1	12	130,791,022 - 130,796,501 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	120,305,297 - 120,308,463 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	124,512,812 - 124,523,387 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

HCAR2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	6,748,415 - 6,750,509 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	6,909,373 - 6,911,477 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	6,997,607 - 6,999,707 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	26	6,997,738 - 6,998,829 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	26	6,929,608 - 6,931,708 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	7,023,319 - 7,025,423 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	6,976,781 - 6,978,885 (+)	NCBI		UU_Cfam_GSD_1.0

LOC101978400
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	157,577,983 - 157,580,165 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936558	1,899,313 - 1,901,409 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HCAR2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	14	30,117,014 - 30,119,293 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	31,807,258 - 31,807,879 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Variants

Variants in HCAR2
15 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	copy number gain	See cases [RCV000050866]	Chr12:118165459..133182322 [GRCh38] Chr12:118603264..133758908 [GRCh37] Chr12:117087647..132268981 [NCBI36] Chr12:12q24.23-24.33	pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	copy number gain	See cases [RCV000053689]	Chr12:115131583..133166920 [GRCh38] Chr12:115569388..133743506 [GRCh37] Chr12:114053771..132253579 [NCBI36] Chr12:12q24.21-24.33	pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]\|See cases [RCV000053691]	Chr12:119417382..133191400 [GRCh38] Chr12:119855187..133767986 [GRCh37] Chr12:118339570..132278059 [NCBI36] Chr12:12q24.23-24.33	pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	copy number gain	See cases [RCV000137651]	Chr12:120697672..133202490 [GRCh38] Chr12:121135475..133779076 [GRCh37] Chr12:119619858..132289149 [NCBI36] Chr12:12q24.31-24.33	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3	copy number gain	See cases [RCV000141434]	Chr12:122646987..123057419 [GRCh38] Chr12:123131534..123541966 [GRCh37] Chr12:121697487..122107919 [NCBI36] Chr12:12q24.31	uncertain significance
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	copy number loss	See cases [RCV000142454]	Chr12:120718786..127500215 [GRCh38] Chr12:121156589..127984760 [GRCh37] Chr12:119640972..126550713 [NCBI36] Chr12:12q24.31-24.32	pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	copy number loss	See cases [RCV000143250]	Chr12:121917758..127802717 [GRCh38] Chr12:122355664..128287262 [GRCh37] Chr12:120840047..126853215 [NCBI36] Chr12:12q24.31-24.32	pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	copy number gain	See cases [RCV000143656]	Chr12:114268403..133201316 [GRCh38] Chr12:114706208..133777902 [GRCh37] Chr12:113190591..132287975 [NCBI36] Chr12:12q24.21-24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12q24.31-24.32(chr12:122726807-127365912)x1	copy number loss	See cases [RCV000449178]	Chr12:122726807..127365912 [GRCh37] Chr12:12q24.31-24.32	likely pathogenic
GRCh37/hg19 12q24.31(chr12:123185916-123199400)x3	copy number gain	See cases [RCV000446957]	Chr12:123185916..123199400 [GRCh37] Chr12:12q24.31	conflicting data from submitters
GRCh37/hg19 12q24.31(chr12:123185916-123187546)x3	copy number gain	See cases [RCV000446709]	Chr12:123185916..123187546 [GRCh37] Chr12:12q24.31	benign
GRCh37/hg19 12q24.31(chr12:122938957-123747037)x3	copy number gain	See cases [RCV000447635]	Chr12:122938957..123747037 [GRCh37] Chr12:12q24.31	uncertain significance
GRCh37/hg19 12q24.31(chr12:123185916-123200173)x3	copy number gain	See cases [RCV000447922]	Chr12:123185916..123200173 [GRCh37] Chr12:12q24.31	benign
GRCh37/hg19 12q24.31(chr12:123185916-123200755)x3	copy number gain	See cases [RCV000448431]	Chr12:123185916..123200755 [GRCh37] Chr12:12q24.31	benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3	copy number gain	not provided [RCV000738070]	Chr12:120367241..133777645 [GRCh37] Chr12:12q24.23-24.33	pathogenic
GRCh37/hg19 12q24.31(chr12:122706844-124294517)x3	copy number gain	not provided [RCV000738079]	Chr12:122706844..124294517 [GRCh37] Chr12:12q24.31	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	copy number loss	not provided [RCV000848395]	Chr12:122169403..129084163 [GRCh37] Chr12:12q24.31-24.32	pathogenic
NM_177551.4(HCAR2):c.951G>A (p.Met317Ile)	single nucleotide variant	not provided [RCV000949567]	Chr12:122702333 [GRCh38] Chr12:123186880 [GRCh37] Chr12:12q24.31	benign
GRCh37/hg19 12q24.31(chr12:122737779-123265478)x3	copy number gain	not provided [RCV002472674]	Chr12:122737779..123265478 [GRCh37] Chr12:12q24.31	uncertain significance
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213]	Chr12:117461902..133841395 [GRCh37] Chr12:12q24.22-24.33	likely pathogenic
GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3	copy number gain	not provided [RCV001795860]	Chr12:121887337..123386068 [GRCh37] Chr12:12q24.31	uncertain significance
GRCh37/hg19 12q24.31(chr12:122938957-123747037)	copy number gain	not specified [RCV002053031]	Chr12:122938957..123747037 [GRCh37] Chr12:12q24.31	uncertain significance
NC_000012.11:g.(?_122277634)_(124242579_?)del	deletion	not provided [RCV003111519]	Chr12:122277634..124242579 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.1062C>A (p.Ser354Arg)	single nucleotide variant	Inborn genetic diseases [RCV002865582]	Chr12:122702222 [GRCh38] Chr12:123186769 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.517G>T (p.Gly173Cys)	single nucleotide variant	Inborn genetic diseases [RCV002683353]	Chr12:122702767 [GRCh38] Chr12:123187314 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.15T>G (p.His5Gln)	single nucleotide variant	Inborn genetic diseases [RCV002683473]	Chr12:122703269 [GRCh38] Chr12:123187816 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.414G>C (p.Lys138Asn)	single nucleotide variant	Inborn genetic diseases [RCV002818241]	Chr12:122702870 [GRCh38] Chr12:123187417 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.38T>C (p.Ile13Thr)	single nucleotide variant	Inborn genetic diseases [RCV002693757]	Chr12:122703246 [GRCh38] Chr12:123187793 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.715G>A (p.Val239Ile)	single nucleotide variant	Inborn genetic diseases [RCV002738275]	Chr12:122702569 [GRCh38] Chr12:123187116 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.874G>A (p.Val292Met)	single nucleotide variant	Inborn genetic diseases [RCV002703772]	Chr12:122702410 [GRCh38] Chr12:123186957 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.554C>T (p.Thr185Ile)	single nucleotide variant	Inborn genetic diseases [RCV002850448]	Chr12:122702730 [GRCh38] Chr12:123187277 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.812C>T (p.Ser271Leu)	single nucleotide variant	Inborn genetic diseases [RCV002936927]	Chr12:122702472 [GRCh38] Chr12:123187019 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.203A>G (p.Asn68Ser)	single nucleotide variant	Inborn genetic diseases [RCV002960539]	Chr12:122703081 [GRCh38] Chr12:123187628 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.351C>A (p.Phe117Leu)	single nucleotide variant	Inborn genetic diseases [RCV002832653]	Chr12:122702933 [GRCh38] Chr12:123187480 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.246C>G (p.Phe82Leu)	single nucleotide variant	Inborn genetic diseases [RCV002836087]	Chr12:122703038 [GRCh38] Chr12:123187585 [GRCh37] Chr12:12q24.31	uncertain significance
NM_177551.4(HCAR2):c.960G>T (p.Glu320Asp)	single nucleotide variant	Inborn genetic diseases [RCV003216250]	Chr12:122702324 [GRCh38] Chr12:123186871 [GRCh37] Chr12:12q24.31	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	384
Count of miRNA genes:	293
Interacting mature miRNAs:	323
Transcripts:	ENST00000328880
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

GC09S04

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	123,186,481 - 123,187,587	UniSTS	GRCh37
Build 36	12	121,752,434 - 121,753,540	RGD	NCBI36
Cytogenetic Map	12	q24.31	UniSTS
HuRef	12	120,146,840 - 120,147,946	UniSTS

GPR109B_8864

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	123,199,243 - 123,199,999	UniSTS	GRCh37
GRCh37	12	123,185,780 - 123,186,540	UniSTS	GRCh37
Build 36	12	121,751,733 - 121,752,493	RGD	NCBI36
Celera	12	122,792,045 - 122,792,805	UniSTS
Celera	12	122,778,622 - 122,779,382	RGD
HuRef	12	120,159,551 - 120,160,028	UniSTS
HuRef	12	120,146,139 - 120,146,899	UniSTS

RH17364

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	123,199,508 - 123,199,743	UniSTS	GRCh37
GRCh37	12	123,186,047 - 123,186,282	UniSTS	GRCh37
Build 36	12	121,752,000 - 121,752,235	RGD	NCBI36
Celera	12	122,792,312 - 122,792,547	UniSTS
Celera	12	122,778,889 - 122,779,124	RGD
Cytogenetic Map	12	q24.31	UniSTS
HuRef	12	120,146,406 - 120,146,641	UniSTS
GeneMap99-GB4 RH Map	12	475.07	UniSTS
NCBI RH Map	12	779.6	UniSTS

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

722

901

1542

211

325

573

672

Low

716

676

786

346

420

268

974

229

693

267

809

832

627

556

Below cutoff

1454

1401

873

171

403

171

1441

1689

2775

368

385

1374

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_177551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB065665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB065876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB083632	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC026333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290915	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL572062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL698846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX646475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY148884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC056419	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD364466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU012026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU285440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000328880 ⟹ ENSP00000375066

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	122,701,293 - 122,703,357 (-)	Ensembl

RefSeq Acc Id:

NM_177551 ⟹ NP_808219

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	122,701,293 - 122,703,357 (-)	NCBI
GRCh37	12	123,185,840 - 123,194,392 (-)	NCBI
Build 36	12	121,751,793 - 121,753,857 (-)	NCBI Archive
HuRef	12	120,146,199 - 120,148,263 (-)	ENTREZGENE
CHM1_1	12	123,154,148 - 123,156,212 (-)	NCBI
T2T-CHM13v2.0	12	122,696,704 - 122,698,768 (-)	NCBI

Sequence:

show sequence

ACCACACAGACACACACCTCCTTGCTGGAGCATTCACTAGGCGAGGCGCTCCATCGGACTCACT
AGCCGCACTCATGAATCGGCACCATCTGCAGGATCACTTTCTGGAAATAGACAAGAAGAACTGC
TGTGTGTTCCGAGATGACTTCATTGTCAAGGTGTTGCCGCCGGTGTTGGGGCTGGAGTTTATCT
TCGGGCTTCTGGGCAATGGCCTTGCCCTGTGGATTTTCTGTTTCCACCTCAAGTCCTGGAAATC
CAGCCGGATTTTCCTGTTCAACCTGGCAGTGGCTGACTTTCTACTGATCATCTGCCTGCCCTTC
CTGATGGACAACTATGTGAGGCGTTGGGACTGGAAGTTTGGGGACATCCCTTGCCGGCTGATGC
TCTTCATGTTGGCTATGAACCGCCAGGGCAGCATCATCTTCCTCACGGTGGTGGCGGTAGACAG
GTATTTCCGGGTGGTCCATCCCCACCACGCCCTGAACAAGATCTCCAATCGGACAGCAGCCATC
ATCTCTTGCCTTCTGTGGGGCATCACTATTGGCCTGACAGTCCACCTCCTGAAGAAGAAGATGC
CGATCCAGAATGGCGGTGCAAATTTGTGCAGCAGCTTCAGCATCTGCCATACCTTCCAGTGGCA
CGAAGCCATGTTCCTCCTGGAGTTCTTCCTGCCCCTGGGCATCATCCTGTTCTGCTCAGCCAGA
ATTATCTGGAGCCTGCGGCAGAGACAAATGGACCGGCATGCCAAGATCAAGAGAGCCATCACCT
TCATCATGGTGGTGGCCATCGTCTTTGTCATCTGCTTCCTTCCCAGCGTGGTTGTGCGGATCCG
CATCTTCTGGCTCCTGCACACTTCGGGCACGCAGAATTGTGAAGTGTACCGCTCGGTGGACCTG
GCGTTCTTTATCACTCTCAGCTTCACCTACATGAACAGCATGCTGGACCCCGTGGTGTACTACT
TCTCCAGCCCATCCTTTCCCAACTTCTTCTCCACTTTGATCAACCGCTGCCTCCAGAGGAAGAT
GACAGGTGAGCCAGATAATAACCGCAGCACGAGCGTCGAGCTCACAGGGGACCCCAACAAAACC
AGAGGCGCTCCAGAGGCGTTAATGGCCAACTCCGGTGAGCCATGGAGCCCCTCTTATCTGGGCC
CAACCTCTCCTTAAATAACCATGCCAAGAAGGGACATTGTCACCAAGAACCAGGATCTCTGGAG
AAACAGTTGGGCTGTTGCATCGAGTAATGTCACTGGACTCGGCCTAAGGTTTCCTGGAACTTCC
AGATTCAGAGAATGCGATTTAGGGAAACGGTGGCAGATGAGTGGGAGACTGGTTGCAAGGTGTG
ACCGCAGGAATCCTGGAGGAATAGAGAGTAAAGCTTCTAGGCATCTGAAACTTTTGCTTCATCT
CTGACGCTCGCAGGACTGAAGATGGGCAAATTGTAGGCATTTCTGCTGAGCAGAGTTGGAGCCA
GAGATCTACTTGTGACTTGTTGGCCTTCTTCCCACATCTGCCTCAGACTGGAGGGGGCTCAGCT
CCTGGGGTGATATCTAGCCTGCTTGTGAGCTCTAGCAGGGATAAGGAGAGCTGAGATTGGAGGG
AATTGTGTTGCTCCTGGAGGGAGCCCAGGCATCATTAAACAAGCCAGTAGGTCACCTGGCTTCC
GTGGACCAATTCATCTTTCAGACAAGCTTTAGCAGAAATGGACTCAGGGAAGAGACTCACACGC
TTTGGTTAATATCTGTGTTTCCGGTGGGTGTAATAGGGGATTAGCCCCAGAAGGGACTGAGCTA
AACAGTGTTATTATGGGAAAGGAAATGGCATTGCTGCTTTCAACCAGCGACTAATGCAATCCAT
TCCTCTCTTGTTTATAGTAATCTAAGGGTTGGGCAGTTAAAACGGCTTCAGGATAGAAAGCTGT
TTCCCACCTCTGTTTGCTTTTAACATTAAAAGGGAAATGTGCCTCTGCCCCACAGTTAGAGGGG
TGCACGTTCCTCCTGGTTCCTTCGCTTGTGTTTCTGTACTTACCAAAAATCTACCATTTCAATA
AATTTTGATAGGAGACA

hide sequence

Protein Sequences


Protein RefSeqs	NP_808219	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH27965	(Get FASTA)	NCBI Sequence Viewer
	AAH56419	(Get FASTA)	NCBI Sequence Viewer
	AAN71621	(Get FASTA)	NCBI Sequence Viewer
	ABS29270	(Get FASTA)	NCBI Sequence Viewer
	APT70322	(Get FASTA)	NCBI Sequence Viewer
	BAB89345	(Get FASTA)	NCBI Sequence Viewer
	BAC05891	(Get FASTA)	NCBI Sequence Viewer
	BAC06094	(Get FASTA)	NCBI Sequence Viewer
	BAF83604	(Get FASTA)	NCBI Sequence Viewer
	CAD69365	(Get FASTA)	NCBI Sequence Viewer
	Q8TDS4	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_808219 ⟸ NM_177551

- UniProtKB:

A7LGG3 (UniProtKB/Swiss-Prot), Q8TDS4 (UniProtKB/Swiss-Prot), A0A4Y1JWQ0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MNRHHLQDHFLEIDKKNCCVFRDDFIVKVLPPVLGLEFIFGLLGNGLALWIFCFHLKSWKSSRI
FLFNLAVADFLLIICLPFLMDNYVRRWDWKFGDIPCRLMLFMLAMNRQGSIIFLTVVAVDRYFR
VVHPHHALNKISNRTAAIISCLLWGITIGLTVHLLKKKMPIQNGGANLCSSFSICHTFQWHEAM
FLLEFFLPLGIILFCSARIIWSLRQRQMDRHAKIKRAITFIMVVAIVFVICFLPSVVVRIRIFW
LLHTSGTQNCEVYRSVDLAFFITLSFTYMNSMLDPVVYYFSSPSFPNFFSTLINRCLQRKMTGE
PDNNRSTSVELTGDPNKTRGAPEALMANSGEPWSPSYLGPTSP

hide sequence

RefSeq Acc Id:

ENSP00000375066 ⟸ ENST00000328880

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TDS4-F1-model_v2	AlphaFold	Q8TDS4	1-363	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24827	AgrOrtholog
COSMIC	HCAR2	COSMIC
Ensembl Genes	ENSG00000182782	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000375066	ENTREZGENE
	ENSP00000375066.2	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000328880	ENTREZGENE
	ENST00000328880.6	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000182782	GTEx
HGNC ID	HGNC:24827	ENTREZGENE
Human Proteome Map	HCAR2	Human Proteome Map
InterPro	GPCR_Rhodpsn	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:338442	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	338442	ENTREZGENE
OMIM	609163	OMIM
PANTHER	HYDROXYCARBOXYLIC ACID RECEPTOR 2	UniProtKB/Swiss-Prot
	HYDROXYCARBOXYLIC ACID RECEPTOR 2	UniProtKB/Swiss-Prot
	HYDROXYCARBOXYLIC ACID RECEPTOR 2	UniProtKB/TrEMBL
	HYDROXYCARBOXYLIC ACID RECEPTOR 2	UniProtKB/TrEMBL
Pfam	7tm_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA165961843	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P2YPURNOCPTR	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	A0A4Y1JWQ0	ENTREZGENE, UniProtKB/TrEMBL
	A7LGG3	ENTREZGENE
	HCAR2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A0PJL5	UniProtKB/Swiss-Prot
	A7LGG3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-07-27	HCAR2	hydroxycarboxylic acid receptor 2	NIACR1	niacin receptor 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD