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TMEM229B Gene

protein-coding   GIFtS: 40
GCID: GC14M067914

Transmembrane Protein 229B

(Previous name: chromosome 14 open reading frame 83)
(Previous symbol: C14orf83)
  See related disease
at  

(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 229B1 2
C14orf831 2 3
Chromosome 14 Open Reading Frame 831

External Ids:    HGNC: 201301   Entrez Gene: 1611452   Ensembl: ENSG000001981337   UniProtKB: Q8NBD83   

Export aliases for TMEM229B gene to outside databases

Previous GC identifers: GC14M067006 GC14M048106


(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 TMEM229B Gene:
TMEM229B (transmembrane protein 229B) is a protein-coding gene. Diseases associated with TMEM229B include obesity. An important paralog of this gene is TMEM229A.


(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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TMEM229B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TMEM229B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM229B


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

Entrez Gene cytogenetic band: 14q24.1   Ensembl cytogenetic band:  14q24.1   HGNC cytogenetic band: 14q23.3-q24.1

TMEM229B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM229B gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M067914:  view genomic region     (about GC identifiers)

Start:
67,913,801 bp from pter      End:
68,000,456 bp from pter
Size:
86,656 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: T229B_HUMAN, Q8NBD8 (See protein sequence)
Recommended Name: Transmembrane protein 229B  
Size: 167 amino acids; 19531 Da

Explore the universe of human proteins at neXtProt for TMEM229B: NX_Q8NBD8

Explore proteomics data for TMEM229B at MOPED


See TMEM229B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_872332.1  
ENSEMBL proteins: 
 ENSP00000452201   ENSP00000451774   ENSP00000452402   ENSP00000450859   ENSP00000452144  
 ENSP00000452025   ENSP00000350050  

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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:
 IPR010540 DUF1113_TMEM229

Graphical View of Domain Structure for InterPro Entry Q8NBD8

ProtoNet protein and cluster: Q8NBD8

UniProtKB/Swiss-Prot: T229B_HUMAN, Q8NBD8
Similarity: Belongs to the TMEM229 family


TMEM229B 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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Animal Models:
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hsa-miR-21* hsa-miR-3164 hsa-miR-3194-5p hsa-miR-429 hsa-miR-1224-3p hsa-miR-134 hsa-miR-29a hsa-miR-503
SwitchGear 3'UTR luciferase reporter plasmidTMEM229B 3' UTR sequence
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(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
T229B_HUMAN, Q8NBD8: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
endoplasmic reticulum1
extracellular1
mitochondrion1
nucleus1
peroxisome1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

TMEM229B 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 TMEM229B
Interactions:

    Search GeneGlobe Interaction Network for TMEM229B

(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 TMEM229B (T229B)



(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 TMEM229B gene: 
NM_182526.2  

Unigene Cluster for TMEM229B:

Transmembrane protein 229B
Hs.509707  [show with all ESTs]
Unigene Representative Sequence: NM_182526
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000555638(uc001xjj.1) ENST00000554675 ENST00000557006 ENST00000554278
ENST00000554480 ENST00000555994 ENST00000557779 ENST00000357461(uc001xjk.3)

miRNA
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Selected qRT-PCR Assays for microRNAs that regulate TMEM229B (see all 49):
hsa-miR-21* hsa-miR-3164 hsa-miR-3194-5p hsa-miR-429 hsa-miR-1224-3p hsa-miR-134 hsa-miR-29a hsa-miR-503
SwitchGear 3'UTR luciferase reporter plasmidTMEM229B 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat TMEM229B
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  QuantiFast Probe-based Assays in human, mouse, rat TMEM229B

Additional mRNA sequence: 

AK056646.1 AK074690.1 BC104940.1 BC104942.1 

7 DOTS entries:

DT.100025542  DT.414109  DT.99933110  DT.120751168  DT.207046  DT.100836797  DT.91753409 

14 AceView cDNA sequences:

BF059021 BQ129217 BM893920 CK823489 BM967257 AI808365 BX112763 CK823490 
AA877885 AW204123 H87731 CB988497 AI027144 H87079 

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™, 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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TMEM229B expression in normal human tissues (normalized intensities)      TMEM229B embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCAGGGAGAG
TMEM229B Expression
About this image


TMEM229B expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
         Mononuclear Myocytes Hyoid Arch Muscles
TMEM229B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TMEM229B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.509707
    Custom PCR Arrays for TMEM229B
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM229B

(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 chordates.

Orthologs for TMEM229B gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem229b1 , 5 transmembrane protein 229B1, 5 90.42(n)1
95.81(a)1
  12 (35.51 cM)5
2685671  NM_178745.41  NP_848860.11 
 789617955 
chicken
(Gallus gallus)
Aves TMEM229B1 transmembrane protein 229B 78.04(n)
84.43(a)
  423269  NM_001012585.1  NP_001012603.1 
lizard
(Anolis carolinensis)
Reptilia TMEM229B6
transmembrane protein 229B
85(a)
1 ↔ 1
GL343272.1(837313-891532)
tropical clawed frog
(Xenopus tropicalis)
Amphibia tmem229b1 transmembrane protein 229B 70.66(n)
80.84(a)
  779772  NM_001244947.1  NP_001231876.1 
zebrafish
(Danio rerio)
Actinopterygii tmem229b1 transmembrane protein 229B 73.12(n)
76.87(a)
  767735  NM_001076673.1  NP_001070141.1 


ENSEMBL Gene Tree for TMEM229B (if available)
TreeFam Gene Tree for TMEM229B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TMEM229B gene
TMEM229A2  
1 SIMAP similar gene for TMEM229B using alignment to 5 protein entries:     T229B_HUMAN (see all proteins):
TMEM229A

TMEM229B for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for TMEM229B
PGOHUM00000238272


(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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Selected SNPs for TMEM229B (see all 976)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 14 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs116231161,2
H--67936493(+) GTGCAA/GAGCTG 1 -- ds50010--------
rs116231641,2
H--67936612(+) CATGAG/AATGTC 1 -- ds50014Minor allele frequency- A:0.00NS EA 414
rs1874876291,2
--67936631(+) TGGCTA/GGTGTT 1 -- ds50010--------
rs1932746231,2
--67936713(+) CTCTGA/CCTGGG 1 -- ds50010--------
rs1164927631,2
F--67936722(+) GGAGCG/ATGGCA 1 -- ds50011Minor allele frequency- A:0.01WA 118
rs13157341,2
C,H--67936809(-) TCTCTG/ACTCTG 1 -- ds500117Minor allele frequency- A:0.00MN NS EA WA NA CSA 1261
rs1391434771,2
C--67937041(+) GACAGA/CGGGAC 1 -- ut310--------
rs1163545371,2
F--67937042(+) ACAGAG/CGGACC 1 -- ut311Minor allele frequency- C:0.01WA 118
rs789200981,2
C,F--67937159(+) AGCTGG/AGGCCT 1 -- ut311Minor allele frequency- A:0.08WA 118
rs1169863731,2
C,F--67937222(+) TGGCTC/TCCCTA 1 -- ut311Minor allele frequency- T:0.03EA 120

HapMap Linkage Disequilibrium report for TMEM229B (67913801 - 68000456 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for TMEM229B:    About this table    
Variant IDTypeSubtypePubMed ID
nsv1322CNV Insertion18451855
nsv526811CNV Loss19592680
nsv1320CNV Loss18451855
nsv902067CNV Gain21882294
nsv470651CNV Gain18288195
nsv826970CNV Gain20364138
nsv902066CNV Gain21882294
nsv456331CNV Gain19166990

Site Specific Mutation Identification with PCR Assays
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(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 TMEM229B:    About MalaCards
obesity


TMEM229B for disorders           About GeneDecksing

Genetic Association Database (GAD): TMEM229B

Export disorders for TMEM229B 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 TMEM229B gene integrated from 10 sources:
(articles sorted by number of sources associating them with TMEM229B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)1, 4 Demirkan A....Schmitz G. (PLoS Genet. 2012)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
  5. 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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 ANDOR
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: 161145 HGNC: 20130 AceView: FLJ33387.1 Ensembl:ENSG00000198133 euGenes: HUgn161145
ECgene: TMEM229B H-InvDB: TMEM229B

(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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NameDescription
PharmGKB entry for TMEM229B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for TMEM229B gene:
Search GeneIP for patents involving TMEM229B

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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