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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TMCO5A Gene

protein-coding GIFtS: 41
GCID: GC15P038227

transmembrane and coiled-coil domains 5A

(Previous name: transmembrane and coiled-coil domains 5 )
(Previous symbol: TMCO5)

Explore 2 diseases affiliated with
TMCO5A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Transmembrane And Coiled-Coil Domains 5A¹ ²
TMCO5¹ ² ³
Transmembrane And Coiled-Coil Domains 5¹ ²
MGC35118¹
Transmembrane And Coiled-Coil Domain-Containing Protein 5A²

External Ids:	HGNC: 28558¹	Entrez Gene: 145942²	Ensembl: ENSG00000166069⁷	UniProtKB: Q8N6Q1³

Export aliases for TMCO5A gene to outside databases

Previous GC identifers: GC15P036016 GC15P015072

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TMCO5A gene promoter:
HOXA3 Pax-6 MyoD POU3F2 (N-Oct-5a) CUTL1 RelA POU3F2 C/EBPalpha AREB6 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMCO5A promoter sequence

Search SABiosciences Chromatin IP Primers for TMCO5A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMCO5A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q14 Ensembl cytogenetic band: 15q14 HGNC cytogenetic band: 15q14

TMCO5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMCO5A gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P038227: view genomic region (about GC identifiers)

Start:	38,214,140 bp from pter	End:	38,259,925 bp from pter
Size:	45,786 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TMC5A_HUMAN, Q8N6Q1 (See protein sequence)

Recommended Name: Transmembrane and coiled-coil domain-containing protein 5A

Size: 288 amino acids; 34174 Da

Subcellular location: Membrane; Single-pass membrane protein (Potential)

Secondary accessions: Q8NA63

Alternative splicing: 2 isoforms: Q8N6Q1-1 Q8N6Q1-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMCO5A: NX_Q8N6Q1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N6Q1

TMCO5A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_689666.2

ENSEMBL proteins:

ENSP00000453162 ENSP00000453271 ENSP00000454112 ENSP00000453369 ENSP00000453047

ENSP00000453561 ENSP00000327234 ENSP00000445914

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

TMCO5A for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TMCO5A for domains About GeneDecksing

1 InterPro domain/family:

IPR026617 Tmco5

Graphical View of Domain Structure for InterPro Entry Q8N6Q1

ProtoNet protein and cluster: Q8N6Q1

UniProtKB/Swiss-Prot: TMC5A_HUMAN, Q8N6Q1

Similarity: Belongs to the TMCO5 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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3 GenomeRNAi human phenotypes for TMCO5A:

Decreased viability with pacli

Increased cell number in S and

Synthetic lethal with Ras

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TMCO5A

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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Search CenterWatch for drugs/clinical trials and news about TMCO5A / TMC5A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for TMCO5A gene:

NM_152453.2

Unigene Cluster for TMCO5A:

Transmembrane and coiled-coil domains 5A

Hs.179646 [show with all ESTs]

Unigene Representative Sequence: AK093126

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000560841 ENST00000558625 ENST00000559502(uc001zjv.1) ENST00000558148

ENST00000558158 ENST00000560653 ENST00000559813(uc010bbc.1) ENST00000319669(uc001zjw.3)

ENST00000540944

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Additional cDNA sequence:

AK093126.1 AK310517.1 BC029221.2

3 DOTS entries:

DT.202687 DT.100017918 DT.102821379

24 AceView cDNA sequences:

BP369168 NM_152453 BC029221 BI826726 AA610065 BM563908 AK093126 BG772013

BX089029 AX747940 CD637841 BP371418 AW118161 BI461956 AW515763 BI832004

BG720715 BI561792 AA778603 CD637836 CD694802 AI218668 CD637838 CD637839

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TMCO5A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAACTTGTGG

About this image

TMCO5A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Mature Sertoli Cells

Testis

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TMCO5A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMCO5A

SOURCE GeneReport for Unigene cluster: Hs.179646

SABiosciences Custom PCR Arrays for TMCO5A

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for TMCO5A gene from 1/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmco5^{1 , 5}	transmembrane and coiled-coil domains 5^{1, 5}	77.66(n)¹ 71.18(a)¹		2 (59.03 cM)⁵ 67356¹ NM_026104.4¹ NP_080380.1¹ 116878691⁵

ENSEMBL Gene Tree for TMCO5A (if available)
TreeFam Gene Tree for TMCO5A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TMCO5A gene

1 SIMAP similar gene for TMCO5A using alignment to 7 protein entries: TMC5A_HUMAN (see all proteins):

TMCO5B

TMCO5A for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for TMCO5A
PGOHUM00000257972

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs186434362^1,2		--	38225484(+)	`GTTTTA/CATGCC`	1	--	us2k¹		0	--	--	--	--
rs143416881^1,2		--	38225540(+)	`CACAAC/TTGGAG`	1	--	us2k¹		0	--	--	--	--
rs116553660^1,2	C,F,	--	38225619(+)	`CGCTTC/TTTCTG`	1	--	us2k¹		1		WA	118
rs146270420^1,2		--	38225625(+)	`TTCTGC/TGCCAC`	1	--	us2k¹		0	--	--	--	--
rs139462157^1,2		--	38225869(+)	`GAAAAG/TGTTTA`	1	--	us2k¹		0	--	--	--	--
rs144152950^1,2		--	38226060(+)	`ACAGAA/CTCCAG`	1	--	us2k¹		0	--	--	--	--
rs2937981^1,2	C,F,A,H,	--	38226280(+)	`TTATTG/TTATTG`	1	--	us2k¹ tfbs³		10		NA WA EA	372
rs201131723^1,2		--	38226318(+)	`CGCGC-/GTGCGCG`	1	--	us2k¹		0	--	--	--	--
rs7162343^1,2	C	--	38226320(+)	`GCGCGT/CGCGCG`	1	--	us2k¹		2		NA	4
rs57713642^1,2	C	--	38226321(+)	`CGCGCA/GCGCGC`	1	--	us2k¹		1		WA	2

HapMap Linkage Disequilibrium report for TMCO5A (38214140 - 38259925 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TMCO5A: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TMCO5A for disorders About GeneDecksing

2 diseases for TMCO5A: About MalaCards

paraplegia ovarian cancer

Human Genome Epidemiology (HuGE) Navigator: TMCO5A (1 document)

Export disorders for TMCO5A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TMCO5A gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMCO5A)

Utopia: connect your pdf to the dynamic
world of online information

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Progression-free survival in ovarian cancer is reflec ted in epigenetic DNA methylation profiles. (PubMed id 21577013)¹ Bauerschlag D.O....Wagner W. (2011)
Multi-ethnic genetic association study of carotid int ima-media thickness using a targeted cardiovascular SNP microarray. (PubMed id 19679847)¹ Lanktree M.B....Anand S.S. (2009)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 145942	HGNC: 28558	AceView: MGC35118	Ensembl:ENSG00000166069	euGenes: HUgn145942
ECgene: TMCO5A	H-InvDB: TMCO5A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TMCO5A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMCO5A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TMCO5A gene:
Search GeneIP for patents involving TMCO5A

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMCO5A

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes TMCO5A gene at Home site.

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TMCO5A Gene

transmembrane and coiled-coil domains 5A

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TMCO5A Gene

transmembrane and coiled-coil domains 5A

Aliasesfor TMCO5A gene

Summariesfor TMCO5A gene

Genomic Viewsfor TMCO5A gene

Proteinsfor TMCO5A gene

Protein Domains /Familiesfor TMCO5A gene

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Transcriptsfor TMCO5A gene

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Genome Databases showing TMCO5A gene

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for TMCO5A gene

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for TMCO5A gene

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for TMCO5A gene

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for TMCO5A gene

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for TMCO5A gene

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for TMCO5A gene

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for TMCO5A gene

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for TMCO5A gene

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for TMCO5A gene

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