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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
  • GC02P112748
  • GC02P112925

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.

Additional gene information for TMEM87B 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 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
GH02H112053 2 FANTOM5 Ensembl ENCODE dbSUPER 16.9 +0.8 754 5.3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 MERTK TMEM87B POLR1B ANAPC1 ZC3H6 RGPD8 CKAP2L GC02M112043
GH02H111897 1.1 ENCODE 22.1 -155.9 -155912 3.8 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3 TMEM87B RGPD8 MERTK ZC3H6 ANAPC1 POLR1B FBLN7 RN7SL297P
GH02H112019 1 ENCODE 23.1 -34.5 -34481 3.1 ATF1 ARNT TCF12 GATA2 FOS ATF7 NCOA1 TSHZ1 MBD2 SMARCA4 MERTK TMEM87B FBLN7 LOC100422091
GH02H112642 1.7 Ensembl ENCODE dbSUPER 12.4 +590.8 590838 6.6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 FLJ42351 ANAPC1 WASH2P ZC3H6 TMEM87B RPS20P11 ENSG00000243389 CHCHD5 ENSG00000207383 POLR1B
GH02H112792 2 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +739.5 739545 4.4 HDGF PKNOX1 ARNT ZNF766 CBX5 JUNB REST ZNF592 MEF2D SMARCA4 IL1B IL1RN ANAPC1 IL1A CKAP2L CBWD2 RGPD8 IL36G ZC3H6 TMEM87B
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000121892 277 3001 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Locations for TMEM87B Gene

Genomic Locations for TMEM87B Gene
chr2:112,055,223-112,119,318
(GRCh38/hg38)
Size:
64,096 bases
Orientation:
Plus strand
chr2:112,812,800-112,876,895
(GRCh37/hg19)

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 Asn68, posLast=197197, and posLast=272272
  • 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

Gene Families for TMEM87B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

Function for TMEM87B Gene

Phenotypes From GWAS Catalog for TMEM87B Gene

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

Animal Model Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM87B gene
Compartment Confidence
plasma membrane 3
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM87B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005829 cytosol IEA --
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

Gene Ontology (GO) - Biological Process for TMEM87B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042147 retrograde transport, endosome to Golgi IGI 26157166
genes like me logo Genes that share ontologies with TMEM87B: view

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

Drugs & Compounds for TMEM87B Gene

No Compound Related Data Available

Transcripts for TMEM87B Gene

Unigene Clusters for TMEM87B Gene

Transmembrane protein 87B:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for TMEM87B Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with TMEM87B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia TMEM87B 33 34
  • 88.61 (n)
cow
(Bos Taurus)
Mammalia TMEM87B 33 34
  • 88.13 (n)
mouse
(Mus musculus)
Mammalia Tmem87b 33 16 34
  • 87.24 (n)
rat
(Rattus norvegicus)
Mammalia Tmem87b 33
  • 87.06 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM87B 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM87B 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 45 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem87b 33
  • 67.58 (n)
Str.3577 33
zebrafish
(Danio rerio)
Actinopterygii tmem87b 33
  • 68.43 (n)
TMEM87B (2 of 2) 34
  • 68 (a)
OneToMany
TMEM87B (1 of 2) 34
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007934 33
  • 54.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17660 33 34
  • 50.23 (n)
worm
(Caenorhabditis elegans)
Secernentea C52B9.4 33 34
  • 52.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTM1 34 36
  • 17 (a)
ManyToMany
-- 34
  • 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
rs1000057611 -- 112,115,731(+) TTGAA(A/G)TTTTC intron-variant
rs1000070192 -- 112,113,088(+) GATTT(A/G)TGAAT intron-variant
rs1000083914 -- 112,093,464(+) GACTT(A/G)CCAAA intron-variant
rs1000108786 -- 112,069,416(+) ACATG(C/T)GGTAT intron-variant

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

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

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: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
restrictive cardiomyopathy
  • cardiomyopathy, constrictive
- 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 (Oncology reports 2008) 3 22 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. 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 HC … Shaikh TH (Cold Spring Harbor molecular case studies 2016) 3 60
  5. Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transport. (PMID: 26157166) Hirata T … Kinoshita T (Molecular biology of the cell 2015) 3 60

Products for TMEM87B Gene

Sources for TMEM87B Gene

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