Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	CLTC
Previous Symbol	CLTCL2
Symbol Alias	Hc
Approved Name	clathrin, heavy chain (Hc)
Previous Name	clathrin, heavy polypeptide (Hc), "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"
Location	17q23.1
Position	chr17:59619689-59696956, 1
External Links	HGNC: 2092 Entrez Gene: 1213 Ensembl: ENSG00000141367 UCSC: uc002ixr.1
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
Georgieva, L., 2014		A de novo CNV in this gene was detected in BD.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 35)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005198	structural molecule activity	molecular function	NAS[1765375]	14
GO:0016020	membrane	cellular component	IDA[16210410]	137
GO:0005886	plasma membrane	cellular component	TAS	360

GO terms by database search (count: 32)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070062	extracellular vesicular exosome	cellular component	IDA[12519789]	176
GO:0032588	trans-Golgi network membrane	cellular component	TAS	4
GO:0030132	clathrin coat of coated pit	cellular component	IEA	1
GO:0030136	clathrin-coated vesicle	cellular component	IDA[19478182]	9
GO:0019901	protein kinase binding	molecular function	ISS	29
GO:1900126	negative regulation of hyaluronan biosynthetic process	biological process	IDA[24251095]; IMP[23509262]	1
GO:0005829	cytosol	cellular component	TAS	223
GO:0042470	melanosome	cellular component	IEA	15
GO:0001649	osteoblast differentiation	biological process	IDA[16210410]	9
GO:1903077	negative regulation of protein localization to plasma membrane	biological process	IMP[19581412]	2
GO:0043234	protein complex	cellular component	IDA[21266579]	27
GO:0006898	receptor-mediated endocytosis	biological process	IMP[15858577]	12
GO:0030130	clathrin coat of trans-Golgi network vesicle	cellular component	IEA	2
GO:0071439	clathrin complex	cellular component	IDA[4066749]	1
GO:0031982	vesicle	cellular component	IDA[24769233]	20
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0044822	poly(A) RNA binding	molecular function	IDA[22681889]	44
GO:0006892	post-Golgi vesicle-mediated transport	biological process	TAS	4
GO:0061024	membrane organization	biological process	TAS	14
GO:0030118	clathrin coat	cellular component	NAS[1765375]	1
GO:0005925	focal adhesion	cellular component	IDA[21423176]	32
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	biological process	TAS	4
GO:0032051	clathrin light chain binding	molecular function	IPI[4066749]	1
GO:0005819	spindle	cellular component	IDA[15858577]	9
GO:0007067	mitotic nuclear division	biological process	IMP[15858577]	15
GO:0006886	intracellular protein transport	biological process	NAS[1765375]	10
GO:0030669	clathrin-coated endocytic vesicle membrane	cellular component	TAS	4
GO:0003725	double-stranded RNA binding	molecular function	IDA[21266579]	9
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0031623	receptor internalization	biological process	IMP[14985334]	5
GO:0033572	transferrin transport	biological process	IMP[14985334]	7
GO:0005515	protein binding	molecular function	IPI[12429846]	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
hsa05040	Huntington's disease	6

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 38)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CLTC	GAK	NO	in vitro	12732633
CLTC	ARR3	NO	in vitro	9827808 , 11877451
CLTC	SCYL2	NO	in vitro;in vivo	1589293
CLTC	KIT	NO	in vivo	10477727
CLTC	AP1B1	NO	in vitro	11451993
CLTC	MAP3K10	NO	in vitro	12105200
CLTC	PICALM	NO	in vitro;in vivo	10436022
CLTC	XRCC6	NO	yeast 2-hybrid	15383276
CLTC	CLINT1	NO	in vitro	12429846
CLTC	YWHAG	NO	in vivo	15324660
CLTC	GGA3	NO	in vitro	11301005
CLTC	HGS	NO	in vitro;yeast 2-hybrid	11532964
CLTC	HIP1	NO	in vitro;in vivo;yeast 2-hybrid	11532990 , 15383276
CLTC	AP1G1	NO	in vitro	11451993
CLTC	GGA1	NO	in vitro	11301005
CLTC	AP3B2	NO	in vitro	9545220
CLTC	EPN1	NO	in vitro	10692452
CLTC	LDLRAP1	NO	in vitro	12221107
CLTC	ARRB1	NO	in vitro	9169477
CLTC	C10orf88	NO	yeast 2-hybrid	16169070
CLTC	OCRL	NO	in vitro;yeast 2-hybrid	15917292
CLTC	AMPH	NO	in vitro;in vivo	9280305 , 9603201 , 9195986
CLTC	GRIN2D	YES	in vivo	10862698
CLTC	GRIN1	YES	in vivo	10862698
CLTC	NCALD	YES	in vitro;in vivo	11964161
CLTC	CLTB	NO	in vitro;yeast 2-hybrid	12426379 , 15533940
CLTC	DNAJC6	NO	in vitro	11470803
CLTC	TFAP2A	NO	in vitro	1587861
CLTC	PXN	NO	in vitro	10330411
CLTC	ARMCX3	NO	yeast 2-hybrid	16169070
CLTC	AP3B1	NO	in vitro	9545220
CLTC	EPN2	NO	in vivo	10567358
CLTC	CLTA	NO	in vitro;yeast 2-hybrid	12426379 , 2406259
CLTC	NDRG1	NO	in vivo	17220478
CLTC	SNX9	NO	in vitro;in vivo	11799118 , 12952949
CLTC	VCL	YES	in vitro	8276759
CLTC	HIP1R	NO	in vitro	11889126
CLTC	GGA2	NO	in vitro	11301005 , 11387476

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lyudmila Georgieva[2014]_11	chr17:57696973-57779678 (UCSC build 37, hg19)	82705	17q23.1	deletion

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17q11-q23	chr17:25100000-64600000	1 (0/1/0)
17q23-q24	chr17:59500000-72900000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr17:59619689..59696956 View in gBrowse