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TMEM129 Gene

protein-coding GIFtS: 46
GCID: GC04M001717

Transmembrane Protein 129

See related disease
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Transmembrane Protein 129¹ ²
D4S2561E²

External Ids:	HGNC: 25137¹	Entrez Gene: 92305²	Ensembl: ENSG00000168936⁷	UniProtKB: A0AVI4³

Export aliases for TMEM129 gene to outside databases

Previous GC identifers: GC04M001687 GC04M001660

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMEM129 Gene:

TMEM129 (transmembrane protein 129) is a protein-coding gene. Diseases associated with TMEM129 include malaria.

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000004.12 NT_006051.19 NC_018915.2

Regulatory elements:

Regulatory transcription factor binding sites in the TMEM129 gene promoter:
GR p53 GR-beta GR-alpha Nkx2-5 NF-E2 NF-E2 p45
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM129 promoter sequence

Search Chromatin IP Primers for TMEM129

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM129

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

Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.3

TMEM129 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM129 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M001717: view genomic region (about GC identifiers)

Start:	1,717,679 bp from pter	End:	1,723,085 bp from pter
Size:	5,407 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TM129_HUMAN, A0AVI4 (See protein sequence)

Recommended Name: Transmembrane protein 129 precursor

Size: 362 amino acids; 40464 Da

Secondary accessions: A6NH49 A6NI98 D3DVP8

Alternative splicing: 2 isoforms: A0AVI4-1 A0AVI4-2

Explore the universe of human proteins at neXtProt for TMEM129: NX_A0AVI4

Explore proteomics data for TMEM129 at MOPED

Post-translational modifications:

Glycosylation² at Asn229

Modification sites at PhosphoSitePlus

See TMEM129 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001120738.1 NP_612394.1

ENSEMBL proteins:

ENSP00000305243 ENSP00000372394 ENSP00000417412 ENSP00000417259 ENSP00000441812

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:

IPR018801 Tmpp129

Graphical View of Domain Structure for InterPro Entry A0AVI4

ProtoNet protein and cluster: A0AVI4

UniProtKB/Swiss-Prot: TM129_HUMAN, A0AVI4

Similarity: Belongs to the TMEM129 family

TMEM129 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

TMEM129 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for TMEM129:

Increased gamma-H2AX phosphory

Animal Models:

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		SwitchGear 3'UTR luciferase reporter plasmid: TMEM129 3' UTR sequence

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM129

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

TM129_HUMAN, A0AVI4: Membrane; Multi-pass membrane protein (Potential)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	3
extracellular	2
lysosome	1

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0016021	integral component of membrane	IEA	--

TMEM129 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for TMEM129
Interactions:

Search GeneGlobe Interaction Network for TMEM129

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

1 Interacting protein for TMEM129 (ENSP00000372394⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

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Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--

TMEM129 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for TMEM129 (TM129)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for TMEM129 gene (2 alternative transcripts):

NM_001127266.1 NM_138385.3

Unigene Cluster for TMEM129:

Transmembrane protein 129

Hs.518562 [show with all ESTs]

Unigene Representative Sequence: NM_001127266

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

ENST00000303277(uc003gdm.3) ENST00000382936(uc010iby.3 uc003gdn.3)

ENST00000460722 ENST00000476253 ENST00000480360 ENST00000536901

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Additional mRNA sequence:

AK098466.1 AK303880.1 AK310320.1 BC009331.2 BC018921.2 BC126370.1

13 DOTS entries:

DT.451775 DT.100755368 DT.100755370 DT.121216962 DT.99970945 DT.100755366 DT.121217001 DT.121216979

DT.92432167 DT.95082332 DT.95129749 DT.95129750 DT.97844837

Selected AceView cDNA sequences (see all 206):

BC009331 BM977729 AI927198 AI393916 AI240436 BQ447161 CR596458 AI573144

BQ675936 CA488731 AI332525 AI474764 AA911788 CF127642 AI762150 AI800358

BM671734 F04500 BC018921 CA311600 BI820666 NM_138385 BU738417 D55809

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM129 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	·	7c	·	7d
SP1:							-		-						-		-
SP2:
SP3:							-		-						-		-		-
SP4:															-
SP5:

ECgene alternative splicing isoforms for TMEM129

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TMEM129 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCGGGAGCC

About this image

TMEM129 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

TMEM129 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.518562

Custom PCR Arrays for TMEM129

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM129

(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)
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This gene was present in the common ancestor of animals.

Orthologs for TMEM129 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Tmem129^{1 , 5}	transmembrane protein 129^{1, 5}	84.35(n)¹ 89.23(a)¹	5 (17.83 cM)⁵ 68366¹ NM_026698.2¹ NP_080974.2¹ 33653216⁵
chicken (Gallus gallus)	Aves	TMEM129¹	transmembrane protein 129	73.2(n) 75.41(a)	422900 NM_001031168.1 NP_001026339.1
tropical clawed frog (Xenopus tropicalis)	Amphibia	tmem129¹	transmembrane protein 129	72.65(n) 74.86(a)	548871 NM_001016117.3 NP_001016117.2
zebrafish (Danio rerio)	Actinopterygii	wufc17d07²	Danio rerio cDNA clone MGC63798 IMAGE3815098, complete more	76.47(n)	BC058876.1
fruit fly (Drosophila melanogaster)	Insecta	CG14646¹	CG14646	49.2(n) 34.08(a)	40555 NM_141205.3 NP_649462.1
worm (Caenorhabditis elegans)	Secernentea	C34F6.7¹	C34F6.7	39.49(n) 27.69(a)	181310 NM_077473.6 NP_509874.1

ENSEMBL Gene Tree for TMEM129 (if available)
TreeFam Gene Tree for TMEM129 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145294949^1,2	C	--	1717745(+)	`AAAAC-/TAAG TAACT`	2	--	ut3¹		0	--	--	--	--
rs798752^1,2,4		--	--	see VAR_032803	2		mis⁴		0	--	--	--	--
rs374625535^1,2	--	--	1717748(+)	`ACTAA-/GTAA CTTAT`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TMEM129 (1717679 - 1723085 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for TMEM129 (see all 15): About this table

Variant ID	Type	Subtype	PubMed ID
esv2726832	CNV	Deletion	23290073
nsv508989	CNV	Insertion	20534489
dgv5416n71	CNV	Loss	21882294
nsv878347	CNV	Loss	21882294
nsv292653	CNV	Loss	16902084
nsv822437	CNV	Loss	20364138
nsv470000	CNV	Loss	18288195
nsv878328	CNV	Loss	21882294
nsv878393	CNV	Loss	21882294
dgv5408n71	CNV	Loss	21882294

Site Specific Mutation Identification with PCR Assays

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DNA2.0 Custom Variant and Variant Library Synthesis for TMEM129

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for TMEM129:
About MalaCards

malaria

TMEM129 for disorders About GeneDecksing

Genetic Association Database (GAD): TMEM129
Human Genome Epidemiology (HuGE) Navigator: TMEM129 (1 document)

Export disorders for TMEM129 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)
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PubMed articles for TMEM129 gene integrated from 10 sources:
(articles sorted by number of sources associating them with TMEM129)

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

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (Mol. Cell 2011)
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. (PubMed id 20348956)¹ Kiemeney L.A....Stefansson K. (Nat. Genet. 2010)
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. (PubMed id 20972438)¹ Rothman N....Chanock S.J. (Nat. Genet. 2010)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W.... Wilson R.K. (Nature 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 92305	HGNC: 25137	AceView: LOC92305	Ensembl:ENSG00000168936	euGenes: HUgn92305
ECgene: TMEM129	H-InvDB: TMEM129

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TMEM129	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMEM129 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TMEM129 gene:
Search GeneIP for patents involving TMEM129

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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TMEM129 Gene

Transmembrane Protein 129

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TMEM129 Gene

Transmembrane Protein 129

Aliasesfor TMEM129 gene

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TMEM129 Human Recombinant Protein Products:

TMEM129 Antibody Products:

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Genome Databases showing TMEM129 gene

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for TMEM129 gene

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for TMEM129 gene

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