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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 and Neuronal Ceroid Lipofuscinosis.

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

GeneHancer (GH) Regulatory Elements for TMEM147 Gene

Promoters and enhancers for TMEM147 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I035544 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.1 121 2.6 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 ZNF143 TMEM147-AS1 TMEM147 ZNF146 ZNF792 RBM42 ZNF566 HAUS5 ZNF260 LINC00665 ZFP14
GH19I035328 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 -214.6 -214560 5.1 HDGF PKNOX1 SMAD1 RB1 BMI1 KLF5 IRF4 TCF12 ZNF207 ATF7 CD22 ENSG00000269553 MAG KRTDAP DMKN HAMP ENSG00000233214 FAM187B TMEM147 TMEM147-AS1
GH19I035533 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 11.6 -11.7 -11696 1 ELF3 KLF1 ATF1 ZBTB21 EBF1 HIC1 MTA3 GLIS2 NR2F6 ATF7 GAPDHS TMEM147 ATP4A UPK1A-AS1
GH19I035281 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 9.5 -262.8 -262823 2.1 FOXA2 PKNOX1 RB1 ARID4B DMAP1 YY1 ZNF121 CREM RXRA SP5 GC19P036711 GC19M038820 HAMP CD22 TMEM147-AS1 ENSG00000268947 ENSG00000267049 KRTDAP DMKN FAM187B
GH19I035527 Promoter/Enhancer 1.1 EPDnew ENCODE 12.1 -17.1 -17126 1.1 KLF1 RFX1 ZNF114 ZNF621 CEBPB SIN3A ZNF623 PRDM2 ZFHX2 GLIS1 SBSN ZNF146 ZNF566 ZNF599 FAM187B2P ZNF302 ZNF181 ZFP14 ENSG00000271049 TMEM147
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM147 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM147 gene promoter:

Genomic Locations for TMEM147 Gene

Genomic Locations for TMEM147 Gene
chr19:35,545,595-35,547,527
(GRCh38/hg38)
Size:
1,933 bases
Orientation:
Plus strand
chr19:36,036,497-36,038,429
(GRCh37/hg19)

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

No Post-translational modifications

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

miRNA for TMEM147 Gene

miRTarBase miRNAs that target TMEM147

Clone Products

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:

Clone Products

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

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 Variation AA Info Type
rs193920833 uncertain-significance, Malignant tumor of prostate 35,544,981(+) G/A upstream_transcript_variant
rs1000513581 -- 35,546,017(+) G/A intron_variant
rs1001088815 -- 35,544,644(+) C/T upstream_transcript_variant
rs1001207725 -- 35,547,327(+) C/T coding_sequence_variant, synonymous_variant
rs1002625632 -- 35,547,908(+) G/C downstream_transcript_variant

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)

Additional Variant Information 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

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

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

Additional Disease Information for 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 58
  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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  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 58

Products for TMEM147 Gene

Sources for TMEM147 Gene

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