ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	TCAP
Previous Symbol	LGMD2G
Symbol Alias	T-cap, TELE, telethonin, CMD1N
Approved Name	titin-cap (telethonin)
Previous Name	limb girdle muscular dystrophy 2G (autosomal recessive)
Name Alias	19 kDa sarcomeric protein
Location	17q12
Position	chr17:37816848-37822808, +
External Links	HGNC: 11610 Entrez Gene: 8557 Ensembl: ENSG00000173991 UCSC: uc002hsh.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 0)

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2934966	Chr17:37824138(Fwd)	downstream_gene_variant; upstream_gene_variant	2(2/0/0)
rs876493	Chr17:37824545(Fwd)	5_prime_UTR_variant; downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/1/0)
rs200173	Chr17:37825089(Fwd)	downstream_gene_variant; intron_variant	2(2/0/0)
rs1053651	Chr17:37822311(Fwd)	downstream_gene_variant; synonymous_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 4)

rs_ID	Location	Functional Annotation
rs931992	Chr17:37821435(Fwd)	5_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs2271308	Chr17:37817482(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs1877031	Chr17:37814080(Fwd)	NMD_transcript_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs11869286	Chr17:37813856(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 29)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 29)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0044325	ion channel binding	Molecular Function	IPI[11697903]	15
GO:0035995	detection of muscle stretch	Biological Process	IMP[12507422]	1
GO:0031674	I band	Cellular Component		6
GO:0031432	titin binding	Molecular Function	IPI[15582318]	2
GO:0050982	detection of mechanical stimulus	Biological Process	TAS[17921333]	1
GO:0048769	sarcomerogenesis	Biological Process	IMP[9817758]	1
GO:0048739	cardiac muscle fiber development	Biological Process	IMP[9817758]	3
GO:0045214	sarcomere organization	Biological Process	IMP[9817758]; TAS[17921333]	3
GO:0060048	cardiac muscle contraction	Biological Process	IMP[15582318]	9
GO:0055008	cardiac muscle tissue morphogenesis	Biological Process	IMP[9817758]	2
GO:0055003	cardiac myofibril assembly	Biological Process	IMP[9817758]	2
GO:0051373	FATZ binding	Molecular Function	IPI[15582318]	1
GO:0070080	titin Z domain binding	Molecular Function	IPI[11846417]	1
GO:0003300	cardiac muscle hypertrophy	Biological Process	IMP[15582318]	2
GO:0005515	protein binding	Molecular Function	IPI[15582318]	910
GO:0001756	somitogenesis	Biological Process		7
GO:0003009	skeletal muscle contraction	Biological Process	IEP[9817758]	1
GO:0006950	response to stress	Biological Process	TAS[17921333]	30
GO:0007512	adult heart development	Biological Process	IMP[9817758]	3
GO:0005829	cytosol	Cellular Component		447
GO:0006461	protein complex assembly	Biological Process	TAS[9817758]	28
GO:0030018	Z disc	Cellular Component	IDA[9817758]	17
GO:0030049	muscle filament sliding	Biological Process		5
GO:0008307	structural constituent of muscle	Molecular Function	IMP[9817758]	7
GO:0014898	cardiac muscle hypertrophy in response to stress	Biological Process	IMP[12507422]	2
GO:0030674	protein binding, bridging	Molecular Function	IDA[15582318]	11
GO:0030916	otic vesicle formation	Biological Process		3
GO:0030240	skeletal muscle thin filament assembly	Biological Process	IMP[9817758]	1
GO:0030241	skeletal muscle myosin thick filament assembly	Biological Process	IMP[9817758]	2

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with TCAP (count: 2)

Gene Symbol	Pathway Count	Pathway List
RYR2	5	ion channel binding; cardiac muscle contraction; cardiac muscle hypertrophy; protein binding; Z disc;
MYH11	5	cardiac muscle fiber development; protein binding; cytosol; structural constituent of muscle; skeletal muscle myosin thick filament assembly;

Genes shared at least 2 KEGG pathways with TCAP (count: 0)

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Region: chr17:37816848..37822808 View in gBrowse