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Aliases for TMEM87B Gene

Aliases for TMEM87B Gene

  • Transmembrane Protein 87B 2 3 5

External Ids for TMEM87B Gene

Previous GeneCards Identifiers for TMEM87B Gene

  • GC02P112530
  • GC02P112812
  • GC02P105326
  • GC02P112181
  • GC02P112184
  • GC02P112186
  • GC02P112711

Summaries for TMEM87B Gene

Entrez Gene Summary for TMEM87B Gene

  • This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]

GeneCards Summary for TMEM87B Gene

TMEM87B (Transmembrane Protein 87B) is a Protein Coding gene. Diseases associated with TMEM87B include Restrictive Cardiomyopathy. An important paralog of this gene is TMEM87A.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM87B Gene

Genomics for TMEM87B Gene

Regulatory Elements for TMEM87B Gene

Enhancers for TMEM87B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F112019 0.5 ENCODE 23 -34.5 -34481 3.1 ATF1 ARNT GATA2 FOS NCOA1 TSHZ1 MBD2 SMARCA4 PBX2 NBN MERTK TMEM87B FBLN7 LOC100422091
GH02F112003 0.6 Ensembl ENCODE 22.2 -50.0 -50023 3.2 HDAC1 ATF1 NFRKB ARID4B SIN3A ZNF2 YY1 ZNF335 GLIS2 ZNF362 MERTK TMEM87B RGPD8 FBLN7 LOC100422091
GH02F111897 0.4 ENCODE 22.1 -155.9 -155912 3.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 ANAPC1 TMEM87B RGPD8 MERTK ZC3H6 FBLN7 RN7SL297P
GH02F111954 1.3 Ensembl ENCODE 21.7 -100.2 -100151 0.6 HDGF ELF3 MLX RARA CREM SMARCA5 KLF11 USF2 NR2F2 KAT8 MERTK TMEM87B FBLN7 LOC100422091
GH02F112010 1.2 FANTOM5 Ensembl ENCODE 19.5 -44.2 -44206 1.0 CTCF IRF2 FOS IRF1 HOMEZ ZNF7 TEAD3 TMEM87B MERTK FBLN7 LOC100422091
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TMEM87B on UCSC Golden Path with GeneCards custom track

Promoters for TMEM87B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000596721 277 3401 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for TMEM87B Gene

Chromosome:
2
Start:
112,055,223 bp from pter
End:
112,119,318 bp from pter
Size:
64,096 bases
Orientation:
Plus strand

Genomic View for TMEM87B Gene

Genes around TMEM87B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM87B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM87B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM87B Gene

Proteins for TMEM87B Gene

  • Protein details for TMEM87B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96K49-TM87B_HUMAN
    Recommended name:
    Transmembrane protein 87B
    Protein Accession:
    Q96K49
    Secondary Accessions:
    • A8K2M9
    • Q1RLN2
    • Q53R54

    Protein attributes for TMEM87B Gene

    Size:
    555 amino acids
    Molecular mass:
    63536 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM87B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM87B Gene

Post-translational modifications for TMEM87B Gene

  • Glycosylation at Asn 68, Asn 197, and Asn 272
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM87B Gene

No data available for DME Specific Peptides for TMEM87B Gene

Domains & Families for TMEM87B Gene

Protein Domains for TMEM87B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM87B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96K49

UniProtKB/Swiss-Prot:

TM87B_HUMAN :
  • Belongs to the LU7TM family. TMEM87 subfamily.
Family:
  • Belongs to the LU7TM family. TMEM87 subfamily.
genes like me logo Genes that share domains with TMEM87B: view

No data available for Gene Families for TMEM87B Gene

Function for TMEM87B Gene

genes like me logo Genes that share phenotypes with TMEM87B: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM87B Gene

Localization for TMEM87B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM87B Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM87B Gene COMPARTMENTS Subcellular localization image for TMEM87B gene
Compartment Confidence
plasma membrane 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for TMEM87B 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 TMEM87B: view

Pathways & Interactions for TMEM87B Gene

SuperPathways for TMEM87B Gene

No Data Available

Interacting Proteins for TMEM87B Gene

Gene Ontology (GO) - Biological Process for TMEM87B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM87B Gene

Transcripts for TMEM87B Gene

Unigene Clusters for TMEM87B Gene

Transmembrane protein 87B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM87B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1:
SP2: - - - - -

Relevant External Links for TMEM87B Gene

GeneLoc Exon Structure for
TMEM87B
ECgene alternative splicing isoforms for
TMEM87B

Expression for TMEM87B Gene

mRNA expression in normal human tissues for TMEM87B Gene

Protein differential expression in normal tissues from HIPED for TMEM87B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (37.8) and Islet of Langerhans (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM87B Gene



Protein tissue co-expression partners for TMEM87B Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM87B Gene:

TMEM87B

SOURCE GeneReport for Unigene cluster for TMEM87B Gene:

Hs.656298
genes like me logo Genes that share expression patterns with TMEM87B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM87B Gene

Orthologs for TMEM87B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TMEM87B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM87B 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia TMEM87B 34 35
  • 88.61 (n)
cow
(Bos Taurus)
Mammalia TMEM87B 34 35
  • 88.13 (n)
mouse
(Mus musculus)
Mammalia Tmem87b 34 16 35
  • 87.24 (n)
rat
(Rattus norvegicus)
Mammalia Tmem87b 34
  • 87.06 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM87B 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM87B 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 45 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem87b 34
  • 67.58 (n)
Str.3577 34
zebrafish
(Danio rerio)
Actinopterygii tmem87b 34
  • 68.43 (n)
TMEM87B (2 of 2) 35
  • 68 (a)
OneToMany
TMEM87B (1 of 2) 35
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007934 34
  • 54.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17660 34 35
  • 50.23 (n)
worm
(Caenorhabditis elegans)
Secernentea C52B9.4 34 35
  • 52.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTM1 35 37
  • 17 (a)
ManyToMany
-- 35
  • 16 (a)
ManyToMany
Species where no ortholog for TMEM87B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM87B Gene

ENSEMBL:
Gene Tree for TMEM87B (if available)
TreeFam:
Gene Tree for TMEM87B (if available)

Paralogs for TMEM87B Gene

Paralogs for TMEM87B Gene

(1) SIMAP similar genes for TMEM87B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TMEM87B: view

Variants for TMEM87B Gene

Sequence variations from dbSNP and Humsavar for TMEM87B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs369634007 Likely pathogenic 112,098,688(+) CAGCA(A/G)ACAAT downstream-variant-500B, reference, missense
rs10165845 -- 112,085,667(+) ACTCT(A/G)GAGGA intron-variant
rs10171359 -- 112,116,313(+) AAAGC(C/T)GACTC utr-variant-3-prime
rs10171979 -- 112,065,743(+) catac(A/C)ggaac intron-variant
rs10175143 -- 112,087,818(+) GCTCT(A/G)TTGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM87B Gene

Variant ID Type Subtype PubMed ID
dgv4047n100 CNV loss 25217958
dgv4053n100 CNV loss 25217958
dgv611e201 CNV deletion 23290073
esv1378320 CNV deletion 17803354
esv1510816 CNV deletion 17803354
esv2057185 CNV deletion 18987734
esv2720519 CNV deletion 23290073
esv2720520 CNV deletion 23290073
esv2720521 CNV deletion 23290073
esv2720522 CNV deletion 23290073
esv2720524 CNV deletion 23290073
esv2720526 CNV deletion 23290073
esv29608 CNV loss 19812545
esv3584014 CNV loss 25503493
esv3584016 CNV loss 25503493
esv3893093 CNV gain 25118596
nsv1149522 OTHER inversion 26484159
nsv521956 CNV loss 19592680
nsv582699 CNV loss 21841781
nsv821426 CNV deletion 20802225
nsv829620 CNV gain 20364138
nsv955115 CNV deletion 24416366

Variation tolerance for TMEM87B Gene

Residual Variation Intolerance Score: 16.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.90; 89.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM87B Gene

Human Gene Mutation Database (HGMD)
TMEM87B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM87B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM87B Gene

Disorders for TMEM87B Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM87B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
restrictive cardiomyopathy
  • cardiomyopathy, familial restrictive, 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM87B

Genetic Association Database (GAD)
TMEM87B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM87B
genes like me logo Genes that share disorders with TMEM87B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM87B Gene

Publications for TMEM87B Gene

  1. Expression of TMEM87B interacting with the human papillomavirus type 18 E6 oncogene in the Hela cDNA library by a yeast two-hybrid system. (PMID: 18636207) Li S. … Ma D. (Oncol. Rep. 2008) 3 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. (PMID: 27148590) Yu H.C. … Shaikh T.H. (Cold Spring Harb Mol Case Stud 2016) 3 64
  4. Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transport. (PMID: 26157166) Hirata T. … Kinoshita T. (Mol. Biol. Cell 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for TMEM87B Gene

Sources for TMEM87B Gene

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