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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. Diseases associated with TMEM57 include Acrofacial Dysostosis 1, Nager Type.

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
GH01G025467 1 Ensembl ENCODE 12.1 +38.0 38003 2.4 CTCF MXI1 ARNT JUN FEZF1 FOSL1 ZFHX2 ZBTB48 GATA2 PRDM10 RHCE TMEM57 GC01M025438 LDLRAP1
GH01G025477 0.8 ENCODE 12.1 +46.7 46727 0.2 TAL1 JUN EBF1 FOSL1 TCF12 GATA2 NCOR1 NR2F6 CREM SMARCE1 TMEM57 RHCE GC01M025438 LDLRAP1
GH01G025478 0.5 Ensembl 12.1 +47.2 47243 0.2 CTCF SMAD5 ZNF740 PRDM10 RHCE TMEM57 GC01M025438 LDLRAP1
GH01G025352 0.5 dbSUPER 11.4 -77.7 -77687 1.5 CBX8 ZNF362 RNF2 CEBPB ATF2 RHCE TMEM57 ENSG00000233478 PIR39713 GC01P025345 SDHDP7
GH01G025475 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 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZNF143

Genomic Location for TMEM57 Gene

Chromosome:
1
Start:
25,430,858 bp from pter
End:
25,500,209 bp from pter
Size:
69,352 bases
Orientation:
Plus strand

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 isoforms=296, Lys365, Lys438, and isoforms=2, 3579
  • Glycosylation at posLast=324324, isoforms=340, Asn452, 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

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

No data available for Gene Families for TMEM57 Gene

Function 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

Animal Model Products

miRNA for TMEM57 Gene

Inhibitory RNA Products

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

Gene Ontology (GO) - Cellular Components for TMEM57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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:

Inhibitory RNA Products

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

Primer Products

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 34 35
  • 99.7 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM57 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM57 34 35
  • 94.98 (n)
cow
(Bos Taurus)
Mammalia TMEM57 34 35
  • 94.83 (n)
mouse
(Mus musculus)
Mammalia Tmem57 34 16 35
  • 92.02 (n)
rat
(Rattus norvegicus)
Mammalia Tmem57 34
  • 91.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM57 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM57 34 35
  • 84.59 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM57 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem57 34
  • 77.64 (n)
Str.9809 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10082 34
zebrafish
(Danio rerio)
Actinopterygii tmem57b 35
  • 78 (a)
OneToMany
tmem57a 34 35
  • 74.54 (n)
TMEM57 (3 of 3) 35
  • 43 (a)
OneToMany
zgc56620 34
fruit fly
(Drosophila melanogaster)
Insecta CG30389 34 35
  • 51.5 (n)
worm
(Caenorhabditis elegans)
Secernentea maco-1 34 35
  • 45.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8754 35
  • 41 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8852 34
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
esv2570786 CNV deletion 19546169
nsv1113091 CNV deletion 24896259
nsv471819 CNV novel sequence insertion 20440878
nsv474039 CNV novel sequence insertion 20440878
nsv474100 CNV novel sequence insertion 20440878
nsv474866 CNV novel sequence insertion 20440878
nsv477052 CNV novel sequence insertion 20440878
nsv479544 CNV novel sequence insertion 20440878
nsv479656 CNV novel sequence insertion 20440878
nsv479765 CNV novel sequence insertion 20440878
nsv479992 CNV novel sequence insertion 20440878
nsv480070 CNV novel sequence insertion 20440878
nsv480155 CNV novel sequence insertion 20440878
nsv480393 CNV novel sequence insertion 20440878
nsv480469 CNV novel sequence insertion 20440878
nsv480564 CNV novel sequence insertion 20440878
nsv834469 CNV gain+loss 17160897
nsv834480 CNV gain 17160897
nsv9768 CNV gain+loss 18304495

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

MalaCards: The human disease database

(1) MalaCards diseases for TMEM57 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with TMEM57: view

No data available for 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 I.J. … Chute C.G. (Am. J. Hum. Genet. 2011) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 46 64
  4. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (PMID: 19060911) Aulchenko Y.S. … Peltonen L. (Nat. Genet. 2009) 3 46 64
  5. Identification of a novel brain-specific and Reelin-regulated gene that encodes a protein colocalized with synapsin. (PMID: 15255972) Kuvbachieva A. … Simonneau M. (Eur. J. Neurosci. 2004) 2 3 64

Products for TMEM57 Gene

Sources for TMEM57 Gene

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