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Aliases for TMEM147 Gene

Aliases for TMEM147 Gene

  • Transmembrane Protein 147 2 3 5
  • Protein NIFIE 14 3 4
  • Seven Transmembrane Domain Protein 3
  • NIFIE14 3

External Ids for TMEM147 Gene

Previous GeneCards Identifiers for TMEM147 Gene

  • GC19P040729
  • GC19P036037
  • GC19P032541
  • GC19P036038

Summaries for TMEM147 Gene

GeneCards Summary for TMEM147 Gene

TMEM147 (Transmembrane Protein 147) is a Protein Coding gene. Diseases associated with TMEM147 include Cystinosis.

Additional gene information for TMEM147 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 TMEM147 Gene

Genomics for TMEM147 Gene

Regulatory Elements for TMEM147 Gene

Enhancers for TMEM147 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
GH19H035328 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -214.6 -214561 5 HDGF PKNOX1 RB1 BMI1 TCF12 ZNF207 ATF7 ETV6 RUNX3 IKZF2 MAG CD22 KRTDAP DMKN HAMP ENSG00000233214 FAM187B TMEM147 TMEM147-AS1 ENSG00000232680
GH19H035533 1 Ensembl ENCODE 11.6 -11.7 -11695 1 ELF3 KLF1 ATF1 TBL1XR1 ZBTB21 HIC1 GLIS2 MTA3 NR2F6 ATF7 TMEM147 ATP4A UPK1A-AS1 GAPDHS
GH19H035693 1.1 ENCODE 10.4 +148.4 148359 0 FOXA2 PKNOX1 ARID4B SIN3A YBX1 ZNF2 SLC30A9 CBX5 ZNF207 ZNF143 TMEM147-AS1 ZNF792 RBM42 ZNF567 HAUS5 KMT2B PROSER3 ZNF599 ENSG00000271032 U2AF1L4
GH19H035281 1.1 Ensembl ENCODE 9.5 -262.8 -262823 2 TBP FOXA2 PKNOX1 RB1 ARID4B DMAP1 YY1 ZNF121 CREM SP5 CD22 TMEM147-AS1 ENSG00000268947 ENSG00000267049 KRTDAP DMKN FAM187B ENSG00000233214 TMEM147 ATP4A
GH19H035485 0.8 ENCODE 10.6 -59.9 -59937 0 ELF3 FOXA2 NFIB RAD21 RARA YY1 ZNF366 CREM MIXL1 REST DMKN ENSG00000233214 FFAR2 MAG SBSN GAPDHS TMEM147 TMEM147-AS1 ENSG00000232680 FAM187B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM147 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM147 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109033 5 1601 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 ZNF548

Genomic Location for TMEM147 Gene

Chromosome:
19
Start:
35,545,595 bp from pter
End:
35,547,527 bp from pter
Size:
1,933 bases
Orientation:
Plus strand

Genomic View for TMEM147 Gene

Genes around TMEM147 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM147 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM147 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM147 Gene

Proteins for TMEM147 Gene

  • Protein details for TMEM147 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVK8-TM147_HUMAN
    Recommended name:
    Transmembrane protein 147
    Protein Accession:
    Q9BVK8
    Secondary Accessions:
    • A8MWW0
    • O75790

    Protein attributes for TMEM147 Gene

    Size:
    224 amino acids
    Molecular mass:
    25261 Da
    Quaternary structure:
    • Forms a complex with NCLN and NOMO2, resulting in a stabilization of the 3 proteins, which are otherwise quickly degraded by the proteasome. Due to the strong similarity between NOMO1, NOMO2 and NOMO3, probably also interacts with NOMO1 and NOMO3.
    SequenceCaution:
    • Sequence=BG697070; Type=Frameshift; Positions=213; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM147 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM147 Gene

Post-translational modifications for TMEM147 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM147 Gene

No data available for DME Specific Peptides for TMEM147 Gene

Domains & Families for TMEM147 Gene

Gene Families for TMEM147 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM147 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM147 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM147: view

No data available for UniProtKB/Swiss-Prot for TMEM147 Gene

Function for TMEM147 Gene

Gene Ontology (GO) - Molecular Function for TMEM147 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20538592
genes like me logo Genes that share ontologies with TMEM147: view
genes like me logo Genes that share phenotypes with TMEM147: view

Animal Model Products

CRISPR Products

miRNA for TMEM147 Gene

miRTarBase miRNAs that target TMEM147

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM147
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM147 Gene

Localization for TMEM147 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM147 Gene

Endoplasmic reticulum 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 TMEM147 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (1)
  • Cytosol (1)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM147 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA,IEA 20538592
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM147: view

Pathways & Interactions for TMEM147 Gene

SuperPathways for TMEM147 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM147 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031648 protein destabilization IMP 20538592
genes like me logo Genes that share ontologies with TMEM147: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM147 Gene

Drugs & Compounds for TMEM147 Gene

No Compound Related Data Available

Transcripts for TMEM147 Gene

Unigene Clusters for TMEM147 Gene

Transmembrane protein 147:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM147
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM147 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d
SP1: - -
SP2: -
SP3: - -
SP4: - -
SP5: -
SP6: - - - -
SP7: -
SP8:

Relevant External Links for TMEM147 Gene

GeneLoc Exon Structure for
TMEM147
ECgene alternative splicing isoforms for
TMEM147

Expression for TMEM147 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM147 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM147 Gene

This gene is overexpressed in Fetal ovary (22.4), Ovary (13.3), Retina (12.1), and NK cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM147 Gene



Protein tissue co-expression partners for TMEM147 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM147 Gene:

TMEM147

SOURCE GeneReport for Unigene cluster for TMEM147 Gene:

Hs.9234

Evidence on tissue expression from TISSUES for TMEM147 Gene

  • Skin(4.4)
  • Nervous system(2.8)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with TMEM147: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM147 Gene

Orthologs for TMEM147 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMEM147 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM147 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM147 33 34
  • 92.11 (n)
dog
(Canis familiaris)
Mammalia TMEM147 33 34
  • 91.52 (n)
mouse
(Mus musculus)
Mammalia Tmem147 33 16 34
  • 90.92 (n)
rat
(Rattus norvegicus)
Mammalia Tmem147 33
  • 90.62 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM147 34
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM147 34
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmem147 33 34
  • 71.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5861 33 34
  • 59.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008757 33
  • 56.56 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK418.5 33 34
  • 47.51 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G47640 33
  • 48.89 (n)
rice
(Oryza sativa)
Liliopsida Os03g0766000 33
  • 52.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7965 34
  • 47 (a)
OneToOne
Species where no ortholog for TMEM147 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TMEM147 Gene

ENSEMBL:
Gene Tree for TMEM147 (if available)
TreeFam:
Gene Tree for TMEM147 (if available)

Paralogs for TMEM147 Gene

No data available for Paralogs for TMEM147 Gene

Variants for TMEM147 Gene

Sequence variations from dbSNP and Humsavar for TMEM147 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs193920833 Uncertain significance 35,544,981(+) TCAAT(A/G)ACAAT intron-variant, upstream-variant-2KB, reference, missense
rs1000513581 -- 35,546,017(+) GACCC(A/G)CCCCC intron-variant, nc-transcript-variant
rs1001088815 -- 35,544,644(+) CCAAA(C/T)GCTTG intron-variant, upstream-variant-2KB
rs1001207725 -- 35,547,327(+) AGGAC(C/T)TTCGT upstream-variant-2KB, reference, synonymous-codon
rs1002625632 -- 35,547,908(+) TGGCA(C/G)CCAGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TMEM147 Gene

Variant ID Type Subtype PubMed ID
nsv953285 CNV deletion 24416366

Variation tolerance for TMEM147 Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM147 Gene

Human Gene Mutation Database (HGMD)
TMEM147
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM147

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM147 Gene

Disorders for TMEM147 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM147 Gene - From: HGMD, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystinosis
  • cystine storage disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM147

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM147
genes like me logo Genes that share disorders with TMEM147: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM147 Gene

Publications for TMEM147 Gene

  1. Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex. (PMID: 20538592) Dettmer U … Haffner C (The Journal of biological chemistry 2010) 2 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 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. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60
  5. Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. (PMID: 23142642) Passantino R … Guarneri P (Biochimica et biophysica acta 2013) 3 60

Products for TMEM147 Gene

Sources for TMEM147 Gene

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