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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TMEM200A Gene

protein-coding GIFtS: 44
GCID: GC06P130729

transmembrane protein 200A

(Previous name: KIAA1913 )
(Previous symbol: KIAA1913)

Explore 1 disease affiliated with
TMEM200A 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 Protein 200A¹ ²
KIAA1913¹ ² ³
TTMC¹ ²
TTMA²
Two Transmembrane C²

External Ids:	HGNC: 21075¹	Entrez Gene: 114801²	Ensembl: ENSG00000164484⁷	UniProtKB: Q86VY9³

Export aliases for TMEM200A gene to outside databases

Previous GC identifer: GC06P128339

(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_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TMEM200A gene promoter:
AML1a GATA-3 Bach2 CUTL1 NF-E2 p45 GATA-1 GATA-2 POU2F1 POU2F1a NF-E2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM200A promoter sequence

Search SABiosciences Chromatin IP Primers for TMEM200A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM200A

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

Entrez Gene cytogenetic band: 6q23.1 Ensembl cytogenetic band: 6q23.1 HGNC cytogenetic band: 6q23.1

TMEM200A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM200A gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P130729: view genomic region (about GC identifiers)

Start:	130,686,879 bp from pter	End:	130,764,212 bp from pter
Size:	77,334 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: T200A_HUMAN, Q86VY9 (See protein sequence)

Recommended Name: Transmembrane protein 200A

Size: 491 amino acids; 54356 Da

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

Sequence caution: Sequence=BAB67806.1; Type=Erroneous initiation;

Secondary accessions: Q96PX5

Explore the universe of human proteins at neXtProt for TMEM200A: NX_Q86VY9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q86VY9

TMEM200A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_443145.1 NP_001245205.1 NP_001245206.1 NP_001245207.1

ENSEMBL proteins:

ENSP00000296978 ENSP00000438928 ENSP00000376224

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	Uscn Proteins for TMEM200A

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	--

TMEM200A 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

TMEM200A for domains About GeneDecksing

1 InterPro domain/family:

IPR018787 DUF2371_TMEM200

Graphical View of Domain Structure for InterPro Entry Q86VY9

ProtoNet protein and cluster: Q86VY9

UniProtKB/Swiss-Prot: T200A_HUMAN, Q86VY9

Similarity: Belongs to the TMEM200 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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		1 QIAGEN miScript miRNA Assays for microRNA that regulate TMEM200A:
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1 GenomeRNAi human phenotype for TMEM200A:

Increased number of cells in m

(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 TMEM200A

(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

Browse Tocris compounds for TMEM200A
Search CenterWatch for drugs/clinical trials and news about TMEM200A / T200A

(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 TMEM200A gene (4 alternative transcripts):

NM_052913.2 NM_001258276.1 NM_001258277.1 NM_001258278.1

Unigene Cluster for TMEM200A:

Transmembrane protein 200A

Hs.591341 [show with all ESTs]

Unigene Representative Sequence: NM_052913

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

ENST00000296978(uc003qca.3 uc010kfh.3 uc010kfi.3) ENST00000545622

ENST00000392429(uc003qcb.3)

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Additional cDNA sequence:

AB052099.1 AB067500.1 AK290166.1 AK294359.1 AK315824.1 BC044246.1

5 DOTS entries:

DT.451857 DT.100681522 DT.100020941 DT.121375073 DT.102823333

24/47 AceView cDNA sequences (see all 47):

BX105522 BM727332 AI373502 CN483043 BQ002926 BU735800 AB052099 BM697619

BM714081 CD107145 BM710700 BM675265 NM_052913 AB067500 BC044246 BQ003545

AI554390 BG163789 CB105348 BM923930 BM681710 BF971227 AW299584 AI373615

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM200A About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	·	5d
SP1:													-		-
SP2:											-		-
SP3:											-		-		-
SP4:									-		-		-		-
SP5:

ECgene alternative splicing isoforms for TMEM200A

(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

TMEM200A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTCCTTTA

About this image

TMEM200A expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Type1 Off Cone Bipolar Cells

Bipolar, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

See TMEM200A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM200A

SOURCE GeneReport for Unigene cluster: Hs.591341

UniProtKB/Swiss-Prot: T200A_HUMAN, Q86VY9

Tissue specificity: Expressed in cerebellum

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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 chordates.

Orthologs for TMEM200A gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmem200a^{1 , 5}	transmembrane protein 200A^{1, 5}	82.01(n)¹ 90.63(a)¹		10 (13.03 cM)⁵ 77220¹ NM_029881.3¹ NP_084157.2¹ 25991186⁵
chicken (Gallus gallus)	Aves	TMEM200A¹	transmembrane protein 200A	76.48(n) 79.96(a)		427076 XM_424670.3 XP_424670.2
lizard (Anolis carolinensis)	Reptilia	TMEM200A⁶	--	76(a)	1 ↔ 1	GL343315.1(334698-336173)
zebrafish (Danio rerio)	Actinopterygii	tmem200a¹	transmembrane protein 200A	62.84(n) 65.78(a)		556369 NM_001044800.1 NP_001038265.1

ENSEMBL Gene Tree for TMEM200A (if available)
TreeFam Gene Tree for TMEM200A (if available)

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

Paralogs for TMEM200A gene

TMEM200C² TMEM200B²

TMEM200A for paralogs About GeneDecksing

(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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs188531127^1,2		--	130685440(+)	`AGGACA/GGCTCA`	3	--	us2k¹ int¹		0	--	--	--	--
rs147440088^1,2		--	130685595(+)	`TTCCTC/TTCAGG`	3	--	int¹ us2k¹		0	--	--	--	--
rs114078707^1,2	C,F,	--	130685661(+)	`AGGAAG/AAGGGC`	3	--	int¹ us2k¹		1		WA	118
rs140677064^1,2		--	130685820(+)	`TCCCCC/TACCGT`	3	--	us2k¹ int¹		0	--	--	--	--
rs6923619^1,2	C,F,A,	--	130685824(+)	`CCACCT/GTAACT`	3	--	int¹ us2k¹		8		WA NA CSA EA	367
rs144636896^1,2		--	130685878(+)	`TGACAA/TCTCCA`	3	--	us2k¹ int¹		0	--	--	--	--
rs150838332^1,2	C,	--	130685975(+)	`CCATAC/TCTGAT`	3	--	int¹ us2k¹		0	--	--	--	--
rs73611643^1,2	C,	--	130686018(+)	`TTGCAC/TGGCTC`	3	--	us2k¹ int¹		1		WA	2
rs139310229^1,2		--	130686031(+)	`CCCCAC/TCCCCC`	3	--	int¹ us2k¹		0	--	--	--	--
rs150020901^1,2		--	130686058(+)	`CCCCCC/GCAGAA`	3	--	int¹ us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TMEM200A (130686879 - 130764212 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for TMEM200A
2 CNVs: 94010 81588

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

TMEM200A for disorders About GeneDecksing

1 disease for TMEM200A: About MalaCards

medulloblastoma

Export disorders for TMEM200A 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 TMEM200A gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM200A)

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

Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18. (PubMed id 15722956)^{1, 3} Pickard B.S.... Muir W.J. (2005)
Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)^{1, 2} Nagase T....Ohara O. (2001)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
Identification of a novel homozygous deletion region at 6q23.1 in medulloblastomas using high-resolution array comparative genomic hybridization analysis. (PubMed id 16000565)² Hui A.B.Y.... Ng H.-K. (2005)
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)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)² Mungall A.J.... Beck S. (2003)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(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: 114801	HGNC: 21075	AceView: KIAA1913	Ensembl:ENSG00000164484	euGenes: HUgn114801
ECgene: TMEM200A	H-InvDB: TMEM200A

(According to HUGE)
About This Section

HUGE: KIAA1913

(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 TMEM200A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMEM200A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TMEM200A gene:
Search GeneIP for patents involving TMEM200A

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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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

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TMEM200A Gene

transmembrane protein 200A

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TMEM200A Gene

transmembrane protein 200A

Aliasesfor TMEM200A gene

Summariesfor TMEM200A gene

Genomic Viewsfor TMEM200A gene

Proteinsfor TMEM200A gene

Protein Domains /Familiesfor TMEM200A gene

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for TMEM200A gene

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for TMEM200A gene

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for TMEM200A gene

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for TMEM200A gene

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