Aliases for TMEM120A Gene

Aliases for TMEM120A Gene

  • Transmembrane Protein 120A 2 3 4 5
  • Transmembrane Protein Induced By Tumor Necrosis Factor Alpha 3 4
  • TMPIT 3 4
  • NET29 3

External Ids for TMEM120A Gene

Previous GeneCards Identifiers for TMEM120A Gene

  • GC07M075455
  • GC07M075618
  • GC07M070702

Summaries for TMEM120A Gene

GeneCards Summary for TMEM120A Gene

TMEM120A (Transmembrane Protein 120A) is a Protein Coding gene. Diseases associated with TMEM120A include Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis. An important paralog of this gene is TMEM120B.

UniProtKB/Swiss-Prot Summary for TMEM120A Gene

Additional gene information for TMEM120A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM120A Gene

Genomics for TMEM120A Gene

GeneHancer (GH) Regulatory Elements for TMEM120A Gene

Promoters and enhancers for TMEM120A 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 TMEM120A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM120A gene promoter:
  • c-Ets-1
  • c-Myb
  • c-Myc
  • Egr-1
  • FOXD3
  • GCNF-2
  • LCR-F1
  • Max1
  • Pax-5
  • ZIC2

Genomic Locations for TMEM120A Gene

Genomic Locations for TMEM120A Gene
chr7:75,986,831-75,994,674
(GRCh38/hg38)
Size:
7,844 bases
Orientation:
Minus strand
chr7:75,616,155-75,623,992
(GRCh37/hg19)
Size:
7,838 bases
Orientation:
Minus strand

Genomic View for TMEM120A Gene

Genes around TMEM120A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM120A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM120A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM120A Gene

Proteins for TMEM120A Gene

  • Protein details for TMEM120A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXJ8-T120A_HUMAN
    Recommended name:
    Transmembrane protein 120A
    Protein Accession:
    Q9BXJ8
    Secondary Accessions:
    • Q86TE9
    • Q8N6P1

    Protein attributes for TMEM120A Gene

    Size:
    343 amino acids
    Molecular mass:
    40610 Da
    Quaternary structure:
    • Homooligomer and heterooligomer with TMEM120B.

    Alternative splice isoforms for TMEM120A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM120A Gene

Post-translational modifications for TMEM120A Gene

  • Glycosylation at Asn117
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM120A Gene

Domains & Families for TMEM120A Gene

Gene Families for TMEM120A Gene

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

Protein Domains for TMEM120A Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM120A Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein induced by tumor necrosis factor alpha (T120A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BXJ8

UniProtKB/Swiss-Prot:

T120A_HUMAN :
  • Belongs to the TMEM120 family.
Family:
  • Belongs to the TMEM120 family.
genes like me logo Genes that share domains with TMEM120A: view

Function for TMEM120A Gene

Molecular function for TMEM120A Gene

UniProtKB/Swiss-Prot Function:
Necessary for efficient adipogenesis (PubMed:26024229).

Phenotypes From GWAS Catalog for TMEM120A Gene

Gene Ontology (GO) - Molecular Function for TMEM120A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM120A: view
genes like me logo Genes that share phenotypes with TMEM120A: view

Animal Model Products

CRISPR Products

miRNA for TMEM120A Gene

miRTarBase miRNAs that target TMEM120A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM120A Gene

Localization for TMEM120A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM120A 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 TMEM120A gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for TMEM120A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM120A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM120A Gene

Pathways & Interactions for TMEM120A Gene

PathCards logo

SuperPathways for TMEM120A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM120A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045444 fat cell differentiation IEA,IMP 26024229
GO:0051260 protein homooligomerization IDA,IEA 26024229
GO:0051291 protein heterooligomerization IDA,IEA 26024229
genes like me logo Genes that share ontologies with TMEM120A: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM120A Gene

Drugs & Compounds for TMEM120A Gene

No Compound Related Data Available

Transcripts for TMEM120A Gene

mRNA/cDNA for TMEM120A Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM120A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: -
SP2:
SP3: -
SP4: -
SP5: - -

Relevant External Links for TMEM120A Gene

GeneLoc Exon Structure for
TMEM120A
ECgene alternative splicing isoforms for
TMEM120A

Expression for TMEM120A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM120A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM120A Gene

This gene is overexpressed in Whole Blood (x5.1).

Protein differential expression in normal tissues from HIPED for TMEM120A Gene

This gene is overexpressed in Spleen (15.8), Liver (8.3), and Testis (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM120A Gene



Protein tissue co-expression partners for TMEM120A Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM120A Gene:

TMEM120A

SOURCE GeneReport for Unigene cluster for TMEM120A Gene:

Hs.488835
genes like me logo Genes that share expression patterns with TMEM120A: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM120A Gene

Orthologs for TMEM120A Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM120A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM120A 32
  • 99.61 (n)
cow
(Bos Taurus)
Mammalia TMEM120A 33 32
  • 91.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM120A 33 32
  • 90.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem120a 32
  • 88.14 (n)
mouse
(Mus musculus)
Mammalia Tmem120a 17 33 32
  • 87.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 43 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TMEM120A 33 32
  • 79.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM120A 33
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem120a 32
  • 72.14 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem120a 33 32
  • 68.68 (n)
OneToMany
TMEM120A (2 of 2) 33
  • 63 (a)
OneToMany
Dr.14318 32
fruit fly
(Drosophila melanogaster)
Insecta CG32795 33 32
  • 59.79 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000285 32
  • 58.99 (n)
worm
(Caenorhabditis elegans)
Secernentea M01G5.3 33
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10375 33
  • 53 (a)
OneToMany
Species where no ortholog for TMEM120A 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 TMEM120A Gene

ENSEMBL:
Gene Tree for TMEM120A (if available)
TreeFam:
Gene Tree for TMEM120A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM120A: view image

Paralogs for TMEM120A Gene

Paralogs for TMEM120A Gene

(1) SIMAP similar genes for TMEM120A Gene using alignment to 1 proteins:

  • T120A_HUMAN
genes like me logo Genes that share paralogs with TMEM120A: view

Variants for TMEM120A Gene

Sequence variations from dbSNP and Humsavar for TMEM120A Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs13921 uncertain-significance, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 75,986,721(-) C/T downstream_transcript_variant
rs148175064 uncertain-significance, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 75,986,386(-) G/A downstream_transcript_variant
rs17685 likely-benign, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 75,986,787(-) G/A/C downstream_transcript_variant
rs184275273 uncertain-significance, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 75,986,660(-) G/A downstream_transcript_variant
rs2286824 uncertain-significance, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 75,986,853(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM120A Gene

Variant ID Type Subtype PubMed ID
dgv120n16 CNV deletion 17901297
esv27597 CNV loss 19812545
esv3613742 CNV loss 21293372
esv3613746 CNV loss 21293372
esv3613748 CNV loss 21293372
nsv1074519 CNV deletion 25765185
nsv1133662 CNV deletion 24896259
nsv428173 CNV gain 18775914
nsv528969 CNV gain 19592680
nsv607517 CNV loss 21841781
nsv951359 CNV deletion 24416366

Variation tolerance for TMEM120A Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM120A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM120A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM120A Gene

Disorders for TMEM120A Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM120A Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM120A

genes like me logo Genes that share disorders with TMEM120A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM120A Gene

Publications for TMEM120A Gene

  1. TMEM120A and B: Nuclear Envelope Transmembrane Proteins Important for Adipocyte Differentiation. (PMID: 26024229) Batrakou DG … Schirmer EC (PloS one 2015) 3 4 56
  2. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 56
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 56

Products for TMEM120A Gene

Sources for TMEM120A Gene