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Aliases for TMEM57 Gene

Aliases for TMEM57 Gene

  • Transmembrane Protein 57 2 3 4 5
  • MACOILIN 3

External Ids for TMEM57 Gene

Previous GeneCards Identifiers for TMEM57 Gene

  • GC01P025629
  • GC01P025758
  • GC01P024014

Summaries for TMEM57 Gene

GeneCards Summary for TMEM57 Gene

TMEM57 (Transmembrane Protein 57) is a Protein Coding gene.

Additional gene information for TMEM57 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM57 Gene

Genomics for TMEM57 Gene

Regulatory Elements for TMEM57 Gene

Enhancers for TMEM57 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
GH01H025477 0.8 ENCODE 12.1 +46.7 46727 0.2 TAL1 JUN EBF1 FOSL1 TCF12 GATA2 NCOR1 CREM SMARCE1 MTA2 TMEM57 RHCE GC01M025438 LDLRAP1
GH01H025467 0.8 Ensembl ENCODE 12.1 +38.0 38003 2.4 FOSL1 CC2D1A L3MBTL2 ARNT JUN FOS ZBTB33 RHCE TMEM57 GC01M025438 LDLRAP1
GH01H025352 0.5 dbSUPER 11.4 -77.7 -77687 1.5 ZNF362 CEBPB ATF2 TMEM57 RHCE ENSG00000233478 GC01P025345 PIR39713 SDHDP7
GH01H025478 0.4 Ensembl 12.1 +47.2 47243 0.2 PRDM10 RHCE TMEM57 GC01M025438 LDLRAP1
GH01H025475 0.4 FANTOM5 12.1 +44.7 44745 0.1 ZSCAN16 RHCE TMEM57 RSRP1 GC01M025438 LDLRAP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM57 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM57 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000003372 142 2801 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 FOS

Genomic Locations for TMEM57 Gene

Genomic Locations for TMEM57 Gene
chr1:25,430,858-25,500,209
(GRCh38/hg38)
Size:
69,352 bases
Orientation:
Plus strand
chr1:25,757,388-25,826,700
(GRCh37/hg19)

Genomic View for TMEM57 Gene

Genes around TMEM57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM57 Gene

Proteins for TMEM57 Gene

  • Protein details for TMEM57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5G2-MACOI_HUMAN
    Recommended name:
    Macoilin
    Protein Accession:
    Q8N5G2
    Secondary Accessions:
    • B1AK00
    • Q2TLX5
    • Q2TLX6
    • Q9NVG6

    Protein attributes for TMEM57 Gene

    Size:
    664 amino acids
    Molecular mass:
    76178 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM57 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM57 Gene

Post-translational modifications for TMEM57 Gene

  • Ubiquitination at posLast=296296, posLast=365365, Lys438, and posLast=579579
  • Glycosylation at posLast=324324, Asn340, posLast=452452, and Asn655
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM57 Gene

No data available for DME Specific Peptides for TMEM57 Gene

Domains & Families for TMEM57 Gene

Gene Families for TMEM57 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM57 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N5G2

UniProtKB/Swiss-Prot:

MACOI_HUMAN :
  • Belongs to the macoilin family.
Family:
  • Belongs to the macoilin family.
genes like me logo Genes that share domains with TMEM57: view

Function for TMEM57 Gene

Phenotypes From GWAS Catalog for TMEM57 Gene

Gene Ontology (GO) - Molecular Function for TMEM57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM57: view
genes like me logo Genes that share phenotypes with TMEM57: view

miRNA for TMEM57 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM57 Gene

Localization for TMEM57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM57 Gene

Nucleus membrane; Multi-pass membrane protein. Cell projection, axon. Note=Detected in the nucleus membrane of non-neuronal cells and in axonal outgrowths of neuronal cells. {ECO:0000250}.

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 TMEM57 gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS 12459264
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030424 axon IEA --
GO:0031965 nuclear membrane ISS 15255972
genes like me logo Genes that share ontologies with TMEM57: view

Pathways & Interactions for TMEM57 Gene

SuperPathways for TMEM57 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMEM57: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM57 Gene

Drugs & Compounds for TMEM57 Gene

No Compound Related Data Available

Transcripts for TMEM57 Gene

mRNA/cDNA for TMEM57 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM57 Gene

Transmembrane protein 57:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM57 Gene

No ASD Table

Relevant External Links for TMEM57 Gene

GeneLoc Exon Structure for
TMEM57
ECgene alternative splicing isoforms for
TMEM57

Expression for TMEM57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM57 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM57 Gene

This gene is overexpressed in Fetal Brain (12.3), Retina (10.9), Pancreas (6.5), Testis (6.1), and Urinary Bladder (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM57 Gene



NURSA nuclear receptor signaling pathways regulating expression of TMEM57 Gene:

TMEM57

SOURCE GeneReport for Unigene cluster for TMEM57 Gene:

Hs.189782

Evidence on tissue expression from TISSUES for TMEM57 Gene

  • Liver(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with TMEM57: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM57 Gene

Orthologs for TMEM57 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM57 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM57 33 34
  • 99.7 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM57 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM57 33 34
  • 94.98 (n)
cow
(Bos Taurus)
Mammalia TMEM57 33 34
  • 94.83 (n)
mouse
(Mus musculus)
Mammalia Tmem57 33 16 34
  • 92.02 (n)
rat
(Rattus norvegicus)
Mammalia Tmem57 33
  • 91.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM57 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM57 33 34
  • 84.59 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM57 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem57 33
  • 77.64 (n)
Str.9809 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10082 33
zebrafish
(Danio rerio)
Actinopterygii tmem57b 34
  • 78 (a)
OneToMany
tmem57a 33 34
  • 74.54 (n)
TMEM57 (3 of 3) 34
  • 43 (a)
OneToMany
zgc56620 33
fruit fly
(Drosophila melanogaster)
Insecta CG30389 33 34
  • 51.5 (n)
worm
(Caenorhabditis elegans)
Secernentea maco-1 33 34
  • 45.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8754 34
  • 41 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8852 33
Species where no ortholog for TMEM57 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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 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 TMEM57 Gene

ENSEMBL:
Gene Tree for TMEM57 (if available)
TreeFam:
Gene Tree for TMEM57 (if available)

Paralogs for TMEM57 Gene

No data available for Paralogs for TMEM57 Gene

Variants for TMEM57 Gene

Sequence variations from dbSNP and Humsavar for TMEM57 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000027457 -- 25,473,387(+) ATGTC(C/T)CCATA intron-variant
rs1000035283 -- 25,453,247(+) TGATC(C/T)GCCCT intron-variant
rs1000119056 -- 25,487,758(+) CCGCC(C/T)CCTGC intron-variant
rs1000136193 -- 25,453,771(+) ATTTA(A/T)ATTAT intron-variant
rs1000141693 -- 25,466,704(+) ATCAA(A/G)TGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM57 Gene

Variant ID Type Subtype PubMed ID
nsv9768 CNV gain+loss 18304495
nsv834480 CNV gain 17160897
nsv834469 CNV gain+loss 17160897
nsv480564 CNV novel sequence insertion 20440878
nsv480469 CNV novel sequence insertion 20440878
nsv480393 CNV novel sequence insertion 20440878
nsv480155 CNV novel sequence insertion 20440878
nsv480070 CNV novel sequence insertion 20440878
nsv479992 CNV novel sequence insertion 20440878
nsv479765 CNV novel sequence insertion 20440878
nsv479656 CNV novel sequence insertion 20440878
nsv479544 CNV novel sequence insertion 20440878
nsv477052 CNV novel sequence insertion 20440878
nsv474866 CNV novel sequence insertion 20440878
nsv474100 CNV novel sequence insertion 20440878
nsv474039 CNV novel sequence insertion 20440878
nsv471819 CNV novel sequence insertion 20440878
nsv1113091 CNV deletion 24896259
esv2570786 CNV deletion 19546169

Variation tolerance for TMEM57 Gene

Residual Variation Intolerance Score: 7.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM57 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM57

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM57 Gene

Disorders for TMEM57 Gene

Relevant External Links for TMEM57

Genetic Association Database (GAD)
TMEM57
Human Genome Epidemiology (HuGE) Navigator
TMEM57
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM57

No disorders were found for TMEM57 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM57 Gene

Publications for TMEM57 Gene

  1. Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. (PMID: 21700265) Kullo IJ … Chute CG (American journal of human genetics 2011) 3 45 60
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  3. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 45 60
  4. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (PMID: 19060911) Aulchenko YS … ENGAGE Consortium (Nature genetics 2009) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for TMEM57 Gene

Sources for TMEM57 Gene

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