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	UMOD
Approved Name	uromodulin
Previous Name	uromodulin (uromucoid, Tamm-Horsfall glycoprotein)
Name Alias	Tamm-Horsfall glycoprotein, "uromucoid"
Location	16p12.3
Position	chr16:20333052-20356301, -1
External Links	HGNC: 12559 Entrez Gene: 7369 Ensembl: ENSG00000169344 UCSC: uc002dgz.4
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Georgi, B., 2014	SNP: rs55772253	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 26)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005509	calcium ion binding	molecular function	IEA	50

GO terms by database search (count: 25)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016323	basolateral plasma membrane	cellular component	IDA[20798515]	21
GO:0006968	cellular defense response	biological process	TAS[2409603]	4
GO:0008285	negative regulation of cell proliferation	biological process	TAS[2409603]	41
GO:0031410	cytoplasmic vesicle	cellular component	IEA	7
GO:0045121	membrane raft	cellular component	IEA	22
GO:0060170	ciliary membrane	cellular component	IEA	4
GO:0072218	metanephric ascending thin limb development	biological process	IEA	1
GO:1990266	neutrophil migration	biological process	IDA[20798515]	1
GO:0000922	spindle pole	cellular component	IDA[20172860]	6
GO:0007588	excretion	biological process	IEA	4
GO:0048878	chemical homeostasis	biological process	IEA	1
GO:2000021	regulation of ion homeostasis	biological process	IEA	1
GO:0010033	response to organic substance	biological process	IEA	3
GO:0016324	apical plasma membrane	cellular component	IDA[18025791]	24
GO:0007159	leukocyte cell-cell adhesion	biological process	IDA[20798515]	1
GO:0072372	primary cilium	cellular component	IDA[20172860]	5
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	biological process	IDA[20798515]	4
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0005794	Golgi apparatus	cellular component	IEA	60
GO:0005615	extracellular space	cellular component	IEA	85
GO:0019898	extrinsic component of membrane	cellular component	TAS[7873609]	8
GO:0072221	metanephric distal convoluted tubule development	biological process	IEA	2
GO:0019864	IgG binding	molecular function	IDA[20798515]	1
GO:0031225	anchored component of membrane	cellular component	IDA[2249987]	11
GO:0072233	metanephric thick ascending limb development	biological process	IEA	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
UMOD	MMP8	NO	in vitro	8397318
UMOD	LTA	YES	in vitro	8323280

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs55772253	chr16:20341296 - 20341296(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/0/1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16p12	chr16:16700000-28500000	2 (1/1/0)
16p12.3-p13.1	chr16:10400000-21200000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr16:20333052..20356301 View in gBrowse