Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	CRHR2
Symbol Alias	CRF2, CRF-RB, HM-CRF
Approved Name	corticotropin releasing hormone receptor 2
Location	7p14.3
Position	chr7:30651943-30700129, -1
External Links	HGNC: 2358 Entrez Gene: 1395 Ensembl: ENSG00000106113 UCSC: uc003tbp.3
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
De Luca, V., 2007	Haplotype: CRHR2_intron 4_(CA)n - CRHR2_intron10_(GAT)n - CRHR2_intron10_(GT)n(5-7-8 ), CRHR2_intron 4_(CA)n - CRHR2_intron10_(GAT)n - CRHR2_intron10_(GT)n(5-2-3), CRHR2_intron 4_(CA)n - CRHR2_intron10_(GAT)n - CRHR2_intron10_(GT)n(5-7-7), CRHR2_intron 4_(CA)n - CRHR2_intron10_(GAT)n - CRHR2_intron10_(GT)n(5-3-6), CRHR2_intron 4_(CA)n - CRHR2_intron10_(GAT)n - CRHR2_intron10_(GT)n(3-3-7), CRHR2_intron 4_(CA)n - CRHR2_intron10_(GAT)n - CRHR2_intron10_(GT)n(5-3-3), CRHR2_intron 4_(CA)n - CRHR2_intron10_(GAT)n - CRHR2_intron10_(GT)n(5-2-5) Other variant: CRHR2_intron10_(GAT)n, CRHR2_intron10_(GT)n, CRHR2_intron4_(CA)n	One polymorphism and risk haplotypes are associated with the disease	Positive	Comment on Study
Villafuerte, S. M.,2002	Other variant: CRHR2_1047G/A	No statistically significant evidence of CRHR2 1047G/A for the presence of an excess of longer alleles in the patient population, as compared to ethnically matched controls, was found.	Negative	Comment on Study
Ceulemans, S.,2011	SNP: rs10265589, rs1049402, rs1076292, rs10951271, rs11553502, rs11979352, rs17159289, rs2014663, rs2190242, rs2240403, rs2267712, rs2267715, rs2267716, rs2284216, rs2709772, rs2709778, rs2709809, rs4266550, rs4723000, rs973002	Significant associations were detected in BD patients.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[8536644]	158
GO:0005179	hormone activity	molecular function	IEA	12

GO terms by database search (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0071376	cellular response to corticotropin-releasing hormone stimulus	biological process	IEA	2
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	biological process	TAS[8536644]	10
GO:0043950	positive regulation of cAMP-mediated signaling	biological process	IEA	2
GO:0005794	Golgi apparatus	cellular component	IEA	60
GO:0043951	negative regulation of cAMP-mediated signaling	biological process	IEA	1
GO:0005783	endoplasmic reticulum	cellular component	IEA	49
GO:0016525	negative regulation of angiogenesis	biological process	IEA	5
GO:0009986	cell surface	cellular component	IEA	40
GO:0015056	corticotrophin-releasing factor receptor activity	molecular function	IEA	2
GO:0005515	protein binding	molecular function	IPI[11329063]	563

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CRHR2	UCN	NO	in vitro;in vivo	8612563 , 9423932 , 11416224
CRHR2	UCN3	NO	in vitro;yeast 2-hybrid	11329063 , 11416224
CRHR2	UCN2	NO	in vitro;in vivo	11416224 , 11226328

Related other genetic factors

Gene related SNPs (count: 39)

Literature-origin SNPs (count: 20)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10951271	chr7:30621322 - 30621322(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs11553502	chr7:30615926 - 30615926(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	1(0/1/0)
rs10265589	chr7:30595984 - 30595984(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs17159289	chr7:30621830 - 30621830(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1049402	chr7:30595045 - 30595045(1)	missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs2709772	chr7:30617375 - 30617375(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2190242	chr7:30669859 - 30669859(1)	intron_variant; NMD_transcript_variant	1(1/0/0)
rs973002	chr7:30659288 - 30659288(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs2014663	chr7:30675957 - 30675957(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs4266550	chr7:30643473 - 30643473(1)		1(0/1/0)
rs2709778	chr7:30627817 - 30627817(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1076292	chr7:30673085 - 30673085(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs2267716	chr7:30677027 - 30677027(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs11979352	chr7:30630190 - 30630190(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2284216	chr7:30672345 - 30672345(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs2709809	chr7:30602883 - 30602883(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs2267715	chr7:30676471 - 30676471(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs2267712	chr7:30672618 - 30672618(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs2240403	chr7:30655586 - 30655586(1)	3_prime_UTR_variant; NMD_transcript_variant; synonymous_variant	1(0/1/0)
rs4723000	chr7:30662298 - 30662298(1)	intron_variant; NMD_transcript_variant	1(0/1/0)

LD-proxies (count: 19)

rs_ID	Location	Functional Annotation
rs7812133	chr7:30655790 - 30655790(1)	intron_variant; NMD_transcript_variant
rs255123	chr7:30702408 - 30702408(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs255100	chr7:30689292 - 30689292(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; splice_region_variant
rs2267710	chr7:30656574 - 30656574(1)	intron_variant; NMD_transcript_variant
rs2009662	chr7:30648647 - 30648647(1)	downstream_gene_variant
rs4722999	chr7:30654159 - 30654159(1)	intron_variant; NMD_transcript_variant
rs975537	chr7:30657741 - 30657741(1)	intron_variant; NMD_transcript_variant
rs3779250	chr7:30654644 - 30654644(1)	intron_variant; NMD_transcript_variant
rs2240404	chr7:30667686 - 30667686(1)	intron_variant; NMD_transcript_variant
rs6462219	chr7:30674685 - 30674685(1)	intron_variant; NMD_transcript_variant
rs2251002	chr7:30673228 - 30673228(1)	intron_variant; NMD_transcript_variant
rs2284218	chr7:30674717 - 30674717(1)	intron_variant; NMD_transcript_variant
rs2284219	chr7:30674820 - 30674820(1)	intron_variant; NMD_transcript_variant
rs1003929	chr7:30679433 - 30679433(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs733453	chr7:30675157 - 30675157(1)	intron_variant; NMD_transcript_variant
rs6965973	chr7:30678844 - 30678844(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs255097	chr7:30687343 - 30687343(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs2284220	chr7:30678487 - 30678487(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs2267717	chr7:30677427 - 30677427(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
CRHR2_intron4_(CA)n	microsatellite	intron4	1 (0/1/0)
CRHR2_intron10_(GAT)n	microsatellite	intron10	1 (1/0/0)
CRHR2_intron10_(GT)n	microsatellite	intron10	1 (0/1/0)
CRHR2_1047G/A	point mutation		1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)
7p15-q21	chr7:20900000-98400000	1 (0/1/0)
7p14.3	chr7:28800000-34900000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
11857585	Significant associations of CRHR2 1047G/A were found in MDD.	Positive

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr7:30651943..30700129 View in gBrowse