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Aliases for TMEM183B Gene

Aliases for TMEM183B Gene

  • Transmembrane Protein 183B 2 3
  • C1orf37-DUP 3 4
  • C1ORF37DUP 3
  • AC117395.1 5

External Ids for TMEM183B Gene

Previous GeneCards Identifiers for TMEM183B Gene

  • GC03M151184
  • GC03M149700
  • GC03M147072

Summaries for TMEM183B Gene

Entrez Gene Summary for TMEM183B Gene

  • This locus was thought to represent a pseudogene of chromosome 1 open reading frame 37 because it is intronless and retains a polyA tail at the 3' end. It does however contain a complete open reading frame that subsequent research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment interactions. [provided by RefSeq, Jul 2010]

GeneCards Summary for TMEM183B Gene

TMEM183B (Transmembrane Protein 183B) is a Protein Coding gene.

Additional gene information for TMEM183B Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM183B Gene

Genomics for TMEM183B Gene

GeneHancer (GH) Regulatory Elements for TMEM183B Gene

Promoters and enhancers for TMEM183B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I149983 Promoter 0.7 Ensembl 550.8 +0.2 165 0.4 CREB1 ATF7 ATF2 TMEM183B PPIAP73 PFN2 LOC730021 LINC01998 ENSG00000242791
GH03I149811 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 7.4 +168.5 168505 5.9 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 RNF13 PFN2 COMMD2 TSC22D2 TMEM183B RNU6-720P ANKUB1
GH03I149897 Enhancer 0.7 Ensembl ENCODE 8.1 +84.6 84573 1.7 JUND VEZF1 CBFA2T3 FOS NFE2 PRDM1 TMEM183B RNU6-720P ANKUB1 RNF13
GH03I149780 Enhancer 0.8 Ensembl ENCODE 5.8 +200.5 200546 4 USF1 JUN JUNB CEBPB USF2 BATF SP1 JUND GATA3 IKZF1 PFN2 RNF13 WWTR1 WWTR1-AS1 TMEM183B RNU6-507P ANKUB1
GH03I149196 Enhancer 1 Ensembl ENCODE dbSUPER 4.6 +785.8 785783 3.1 PKNOX1 CEBPB CEBPG ZIC2 ETS1 SP1 POLR2A CTBP2 POU5F1 PRDM10 CP HPS3 TMEM183B GC03M149178
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM183B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM183B gene promoter:

Genomic Locations for TMEM183B Gene

Genomic Locations for TMEM183B Gene
chr3:149,981,661-149,983,366
(GRCh38/hg38)
Size:
1,706 bases
Orientation:
Minus strand
chr3:149,699,448-149,701,153
(GRCh37/hg19)

Genomic View for TMEM183B Gene

Genes around TMEM183B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM183B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM183B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM183B Gene

Proteins for TMEM183B Gene

  • Protein details for TMEM183B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q1AE95-T183B_HUMAN
    Recommended name:
    Transmembrane protein 183B
    Protein Accession:
    Q1AE95
    Secondary Accessions:
    • Q1AE97

    Protein attributes for TMEM183B Gene

    Size:
    376 amino acids
    Molecular mass:
    42940 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The chimpanzee orthologous protein does not exist, this gene was derived from TMEM183A through retroposition after the divergence of human and chimpanzee.

neXtProt entry for TMEM183B Gene

Post-translational modifications for TMEM183B Gene

No Post-translational modifications

Other Protein References for TMEM183B Gene

REFSEQ proteins:

No data available for DME Specific Peptides for TMEM183B Gene

Domains & Families for TMEM183B Gene

Protein Domains for TMEM183B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM183B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q1AE95

UniProtKB/Swiss-Prot:

T183B_HUMAN :
  • Belongs to the TMEM183 family.
Family:
  • Belongs to the TMEM183 family.
genes like me logo Genes that share domains with TMEM183B: view

No data available for Gene Families for TMEM183B Gene

Function for TMEM183B Gene

Phenotypes for TMEM183B Gene

GenomeRNAi human phenotypes for TMEM183B:
genes like me logo Genes that share phenotypes with TMEM183B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TMEM183B Gene

Localization for TMEM183B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM183B Gene

Membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for TMEM183B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM183B: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for TMEM183B Gene

Pathways & Interactions for TMEM183B Gene

SuperPathways for TMEM183B Gene

No Data Available

Interacting Proteins for TMEM183B Gene

Gene Ontology (GO) - Biological Process for TMEM183B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM183B Gene

Drugs & Compounds for TMEM183B Gene

No Compound Related Data Available

Transcripts for TMEM183B Gene

mRNA/cDNA for TMEM183B Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM183B Gene

Transmembrane protein 183B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM183B Gene

No ASD Table

Relevant External Links for TMEM183B Gene

GeneLoc Exon Structure for
TMEM183B
ECgene alternative splicing isoforms for
TMEM183B

Expression for TMEM183B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM183B Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM183B Gene:

TMEM183B

SOURCE GeneReport for Unigene cluster for TMEM183B Gene:

Hs.652908

mRNA Expression by UniProt/SwissProt for TMEM183B Gene:

Q1AE95-T183B_HUMAN
Tissue specificity: Expressed in brain, lung, pancreas, thymus, intestine and blood. Not detected in heart, placenta, liver, muscle, kidney, spleen, prostate, testis, ovary and colon.
genes like me logo Genes that share expression patterns with TMEM183B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM183B Gene

Orthologs for TMEM183B Gene

Evolution for TMEM183B Gene

ENSEMBL:
Gene Tree for TMEM183B (if available)
TreeFam:
Gene Tree for TMEM183B (if available)

No data available for Orthologs for TMEM183B Gene

Paralogs for TMEM183B Gene

(1) SIMAP similar genes for TMEM183B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TMEM183B: view

No data available for Paralogs for TMEM183B Gene

Variants for TMEM183B Gene

Sequence variations from dbSNP and Humsavar for TMEM183B Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000256852 -- 149,982,811(-) A/AA coding_sequence_variant, frameshift
rs1000600940 -- 149,981,495(-) A/G downstream_transcript_variant
rs1000654744 -- 149,981,167(-) T/C downstream_transcript_variant
rs1001967081 -- 149,985,106(-) G/A upstream_transcript_variant
rs1003660313 -- 149,985,219(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM183B Gene

Variant ID Type Subtype PubMed ID
esv34142 CNV loss 18971310
nsv979888 CNV duplication 23825009

Variation tolerance for TMEM183B Gene

Gene Damage Index Score: 3.36; 53.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM183B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM183B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM183B Gene

Disorders for TMEM183B Gene

Additional Disease Information for TMEM183B

No disorders were found for TMEM183B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM183B Gene

Publications for TMEM183B Gene

  1. Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup. (PMID: 16644869) Yu H … Wang W (Human molecular genetics 2006) 2 3 4 58
  2. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PMID: 17903301) Vasan RS … Benjamin EJ (BMC medical genetics 2007) 44 58
  3. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PMID: 17903293) Benjamin EJ … Vasan RS (BMC medical genetics 2007) 44 58

Products for TMEM183B Gene

Sources for TMEM183B Gene

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