Aliases for TMEM120B Gene

Aliases for TMEM120B Gene

  • Transmembrane Protein 120B 2 3 4 5

External Ids for TMEM120B Gene

Previous GeneCards Identifiers for TMEM120B Gene

  • GC12P120635
  • GC12P122150
  • GC12P119162

Summaries for TMEM120B Gene

GeneCards Summary for TMEM120B Gene

TMEM120B (Transmembrane Protein 120B) is a Protein Coding gene. An important paralog of this gene is TMEM120A.

UniProtKB/Swiss-Prot Summary for TMEM120B Gene

Additional gene information for TMEM120B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM120B Gene

Genomics for TMEM120B Gene

GeneHancer (GH) Regulatory Elements for TMEM120B Gene

Promoters and enhancers for TMEM120B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM120B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM120B gene promoter:
  • aMEF-2
  • MEF-2A
  • MyoD
  • RSRFC4

Genomic Locations for TMEM120B Gene

Genomic Locations for TMEM120B Gene
chr12:121,712,752-121,783,001
(GRCh38/hg38)
Size:
70,250 bases
Orientation:
Plus strand
chr12:122,150,658-122,220,907
(GRCh37/hg19)
Size:
70,250 bases
Orientation:
Plus strand

Genomic View for TMEM120B Gene

Genes around TMEM120B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM120B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM120B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM120B Gene

Proteins for TMEM120B Gene

  • Protein details for TMEM120B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0PK00-T120B_HUMAN
    Recommended name:
    Transmembrane protein 120B
    Protein Accession:
    A0PK00
    Secondary Accessions:
    • A0PK01
    • B3KX33

    Protein attributes for TMEM120B Gene

    Size:
    339 amino acids
    Molecular mass:
    40246 Da
    Quaternary structure:
    • Heterooligomer with TMEM120A.

neXtProt entry for TMEM120B Gene

Post-translational modifications for TMEM120B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM120B Gene

No data available for DME Specific Peptides for TMEM120B Gene

Domains & Families for TMEM120B Gene

Gene Families for TMEM120B Gene

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

Protein Domains for TMEM120B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM120B Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 120B (T120B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A0PK00

UniProtKB/Swiss-Prot:

T120B_HUMAN :
  • Belongs to the TMEM120 family.
Family:
  • Belongs to the TMEM120 family.
genes like me logo Genes that share domains with TMEM120B: view

Function for TMEM120B Gene

Molecular function for TMEM120B Gene

UniProtKB/Swiss-Prot Function:
Necessary for efficient adipogenesis.

Phenotypes From GWAS Catalog for TMEM120B Gene

Gene Ontology (GO) - Molecular Function for TMEM120B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMEM120B: view
genes like me logo Genes that share phenotypes with TMEM120B: view

Animal Model Products

CRISPR Products

miRNA for TMEM120B Gene

miRTarBase miRNAs that target TMEM120B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM120B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM120B Gene

Localization for TMEM120B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM120B Gene

Nucleus inner 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 TMEM120B gene
Compartment Confidence
nucleus 4
plasma membrane 3
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM120B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IBA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM120B: view

Pathways & Interactions for TMEM120B Gene

PathCards logo

SuperPathways for TMEM120B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM120B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0045444 fat cell differentiation ISS,IBA --
GO:0051291 protein heterooligomerization IEA,ISS --
genes like me logo Genes that share ontologies with TMEM120B: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM120B Gene

Drugs & Compounds for TMEM120B Gene

No Compound Related Data Available

Transcripts for TMEM120B Gene

mRNA/cDNA for TMEM120B Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM120B

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM120B Gene

No ASD Table

Relevant External Links for TMEM120B Gene

GeneLoc Exon Structure for
TMEM120B
ECgene alternative splicing isoforms for
TMEM120B

Expression for TMEM120B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM120B Gene

mRNA differential expression in normal tissues according to GTEx for TMEM120B Gene

This gene is overexpressed in Brain - Cerebellum (x5.1) and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for TMEM120B Gene

This gene is overexpressed in Rectum (56.3) and Pancreas (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM120B Gene



Protein tissue co-expression partners for TMEM120B Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM120B Gene:

TMEM120B

Evidence on tissue expression from TISSUES for TMEM120B Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TMEM120B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM120B Gene

Orthologs for TMEM120B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMEM120B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM120B 33 32
  • 95.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM120B 33 32
  • 90.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem120b 32
  • 89.77 (n)
dog
(Canis familiaris)
Mammalia TMEM120B 33 32
  • 89.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem120b 17 33 32
  • 88.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM120B 33
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM120B 33
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM120B 33
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM120B 33
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem120b 32
  • 72.77 (n)
Str.16706 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.22494 32
zebrafish
(Danio rerio)
Actinopterygii tmem120b 33 32
  • 72.57 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32795 33
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M01G5.3 33 32
  • 52.22 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G33230 32
  • 41.34 (n)
rice
(Oryza sativa)
Liliopsida Os02g0106800 32
  • 47.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10375 33
  • 55 (a)
OneToMany
Cin.10116 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10116 32
Species where no ortholog for TMEM120B 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 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)
  • wheat (Triticum aestivum)

Evolution for TMEM120B Gene

ENSEMBL:
Gene Tree for TMEM120B (if available)
TreeFam:
Gene Tree for TMEM120B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM120B: view image

Paralogs for TMEM120B Gene

Paralogs for TMEM120B Gene

(1) SIMAP similar genes for TMEM120B Gene using alignment to 3 proteins:

  • T120B_HUMAN
  • F5H465_HUMAN
  • H0YG77_HUMAN
genes like me logo Genes that share paralogs with TMEM120B: view

Variants for TMEM120B Gene

Sequence variations from dbSNP and Humsavar for TMEM120B Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000104748 -- 121,729,691(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000135326 -- 121,754,530(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000233999 -- 121,782,059(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000239909 -- 121,745,331(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000284728 -- 121,781,892(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM120B Gene

Variant ID Type Subtype PubMed ID
dgv2919n54 CNV loss 21841781
dgv2920n54 CNV gain+loss 21841781
dgv2921n54 CNV loss 21841781
dgv2922n54 CNV gain+loss 21841781
dgv2923n54 CNV loss 21841781
dgv2924n54 CNV loss 21841781
dgv2925n54 CNV loss 21841781
dgv882n106 CNV deletion 24896259
esv1527792 CNV insertion 17803354
esv1943412 CNV deletion 18987734
esv22633 CNV gain+loss 19812545
esv2625237 CNV deletion 19546169
esv2746492 CNV deletion 23290073
esv3630956 CNV loss 21293372
esv3630957 CNV loss 21293372
esv3892268 CNV loss 25118596
nsv1070555 CNV deletion 25765185
nsv1113529 CNV deletion 24896259
nsv1122774 CNV deletion 24896259
nsv1160065 CNV deletion 26073780
nsv560458 CNV loss 21841781
nsv560459 CNV loss 21841781
nsv560462 CNV gain+loss 21841781
nsv560463 CNV loss 21841781
nsv560464 CNV gain+loss 21841781
nsv560472 CNV gain+loss 21841781
nsv560489 CNV loss 21841781

Variation tolerance for TMEM120B Gene

Residual Variation Intolerance Score: 79.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.50; 92.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM120B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM120B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM120B Gene

Disorders for TMEM120B Gene

Additional Disease Information for TMEM120B

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

No disorders were found for TMEM120B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM120B Gene

Publications for TMEM120B Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 43 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 56

Products for TMEM120B Gene

  • Biorbyt antibodies for TMEM120B

Sources for TMEM120B Gene