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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TMEM232 Gene

protein-coding GIFtS: 39
GCID: GC05M109624

transmembrane protein 232

Explore 2 diseases affiliated with
TMEM232 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 232¹ ²
FLJ43080¹

External Ids:	HGNC: 37270¹	Entrez Gene: 642987²	Ensembl: ENSG00000186952⁷	UniProtKB: C9JQI7³

Export aliases for TMEM232 gene to outside databases

Previous GC identifers: GC05M109755 GC05M104934

(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_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for TMEM232
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for TMEM232

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM232

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

Entrez Gene cytogenetic band: 5q22.1 Ensembl cytogenetic band: 5q22.1 HGNC cytogenetic band: 5q22.1

TMEM232 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM232 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M109624: view genomic region (about GC identifiers)

Start:	109,624,934 bp from pter	End:	110,074,657 bp from pter
Size:	449,724 bases	Orientation:	minus 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: TM232_HUMAN, C9JQI7 (See protein sequence)

Recommended Name: Transmembrane protein 232

Size: 657 amino acids; 76453 Da

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

Secondary accessions: B4DKF4

Alternative splicing: 2 isoforms: C9JQI7-1 C9JQI7-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM232: NX_C9JQI7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_C9JQI7

TMEM232 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001034852.3

ENSEMBL proteins:

ENSP00000401477 ENSP00000427785 ENSP00000423904 ENSP00000421614 ENSP00000424807

ENSP00000394680

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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	--

TMEM232 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

ProtoNet protein and cluster: C9JQI7

(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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(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 TMEM232

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for TMEM232 (ENSP00000394680⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KNCN	ENSP00000379607⁴	STRING: ENSP00000379607

About this table

(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 TMEM232
Search CenterWatch for drugs/clinical trials and news about TMEM232 / TM232

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for TMEM232 gene:

NM_001039763.3

Unigene Cluster for TMEM232:

Transmembrane protein 232

Hs.729154 [show with all ESTs]

Unigene Representative Sequence: AK125070

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

ENST00000507188(uc003kov.1) ENST00000508571(uc003kow.1) ENST00000515518(uc003kox.3)

ENST00000455884 ENST00000512003 ENST00000515363 ENST00000511883 ENST00000515278

ENST00000512886 ENST00000502857 ENST00000503527 ENST00000512577 ENST00000506890

ENST00000429839(uc011cvh.2 uc003koy.4)

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Additional cDNA sequence:

AK125070.1 AK296542.1 BC042563.1 BX648527.1

9 DOTS entries:

DT.97803712 DT.100666614 DT.95121058 DT.120801245 DT.40112336 DT.75177899 DT.101975210 DT.92049317

DT.70104679

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

TMEM232 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTGTACAGC

About this image

TMEM232 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TMEM232 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM232

SOURCE GeneReport for Unigene cluster: Hs.729154

SABiosciences Custom PCR Arrays for TMEM232

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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 TMEM232 gene from 3/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmem232^{1 , 5}	transmembrane protein 232^{1, 5}	75.36(n)¹ 67.66(a)¹		17 (34.90 cM)⁵ 381107¹ NM_001008973.2¹ NP_001008973.2¹ 65256005⁵
lizard (Anolis carolinensis)	Reptilia	TMEM232⁶	--	42(a)	1 ↔ 1	GL343193.1(6127054-6150305)
zebrafish (Danio rerio)	Actinopterygii	tmem232¹	transmembrane protein 232	48(n) 33.67(a)		793774 NM_001100053.1 NP_001093523.1

ENSEMBL Gene Tree for TMEM232 (if available)
TreeFam Gene Tree for TMEM232 (if available)

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

(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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs192757171^1,2		--	109754724(+)	`TGGATA/GGAAGG`	1	--	ds500¹		0	--	--	--	--
rs185370905^1,2		--	109754734(+)	`GATGGC/GAGAAA`	1	--	ds500¹		0	--	--	--	--
rs190666914^1,2		--	109754737(+)	`GGGAGA/GAAATT`	1	--	ds500¹		0	--	--	--	--
rs11285256^1,2	C	--	109754869(+)	`ATAGA-/TTTTTT`	1	--	ds500¹		2		NA	4
rs111830427^1,2	C,	--	109754927(+)	`GGAAAG/AGTATA`	1	--	ds500¹		2		CSA WA	120
rs311697^1,2	C,F,H,	--	109755056(-)	`GTTGCC/ATGTAG`	1	--	ds500¹		21		NS EA NA WA CSA	2344
rs55839860^1,2	C,	--	109755073(+)	`CTGCCG/ATATGT`	1	--	ds500¹		1		WA	2
rs181686641^1,2		--	109755238(+)	`CCCATA/TTAAAA`	1	--	ut3¹		0	--	--	--	--
rs147056223^1,2		--	109755270(+)	`TTTTAA/CAATAC`	1	--	ut3¹		0	--	--	--	--
rs311696^1,2	C,F,O,A,H,	--	109755300(-)	`TCACTC/TGGTTA`	1	--	ut3¹		26		MN EA NA NS WA CSA	2747

HapMap Linkage Disequilibrium report for TMEM232 (109624934 - 109874934 bp, first 250kb of TMEM232)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for TMEM232
10 CNVs: 93183 10127 3571 93186 93185 93184 2594 32743 59226 9023
1 Indel: 33410

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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

TMEM232 for disorders About GeneDecksing

2 diseases for TMEM232: About MalaCards

atopic dermatitis dermatitis

1 disease from the University of Copenhagen DISEASES database for TMEM232:

Atopic dermatitis

Human Genome Epidemiology (HuGE) Navigator: TMEM232 (4 documents)

Export disorders for TMEM232 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 TMEM232 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with TMEM232)

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)
Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)¹ Emanuele M.J....Elledge S.J. (2011)
A genome-wide meta-analysis of genetic variants associ ated with allergic rhinitis and grass sensitization and their interaction with b irth order. (PubMed id 22036096)¹ Ramasamy A....Jarvis D.L. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
Genetic variants associated with cardiac structure an d function: a meta-analysis and replication of genome-wide association data. (PubMed id 19584346)¹ Vasan R.S....Blankenberg S. (2009)
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)¹ Yang Q....O'Donnell C.J. (2007)
The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)² Schmutz J.... Rubin E.M. (2004)
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)

(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: 642987	HGNC: 37270	Ensembl:ENSG00000186952	euGenes: HUgn642987	ECgene: TMEM232
H-InvDB: TMEM232

(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 TMEM232	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMEM232 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TMEM232 gene:
Search GeneIP for patents involving TMEM232

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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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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Hot genes Disease genes TMEM232 gene at Home site.

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TMEM232 Gene

transmembrane protein 232

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TMEM232 Gene

transmembrane protein 232

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene

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for TMEM232 gene