Gene Report

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Basic Info

Approved Symbol	KRT75
Symbol Alias	K6HF
Approved Name	keratin 75, type II
Previous Name	keratin 75
Location	12q13.13
Position	chr12:52424070-52434525, -1
External Links	HGNC: 24431 Entrez Gene: 9119 Ensembl: ENSG00000170454 UCSC: uc001saj.2
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
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
Strauss, K. A., 2014	SNP: rs2232386	The associated SNP in this gene showed no significant association with BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005198	structural molecule activity	molecular function	IEA	14

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045095	keratin filament	cellular component	IEA	2
GO:0005882	intermediate filament	cellular component	IDA[15086549]	8
GO:0002244	hematopoietic progenitor cell differentiation	biological process	IEA	6
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01430	Cell Communication	11

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2232386	chr12:52433956 - 52433956(1)	missense_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q	chr12:38200000-133851895	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: chr12:52424070..52434525 View in gBrowse