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Aliases for TMEM230 Gene

Aliases for TMEM230 Gene

  • Transmembrane Protein 230 2 3 5
  • C20orf30 3 4
  • UPF0414 Transmembrane Protein C20orf30 3
  • Chromosome 20 Open Reading Frame 30 2
  • DJ1116H23.2.1 3
  • HSPC274 3

External Ids for TMEM230 Gene

Previous HGNC Symbols for TMEM230 Gene

  • C20orf30

Previous GeneCards Identifiers for TMEM230 Gene

  • GC20M005084
  • GC20M005086
  • GC20M005089

Summaries for TMEM230 Gene

Entrez Gene Summary for TMEM230 Gene

  • This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]

GeneCards Summary for TMEM230 Gene

TMEM230 (Transmembrane Protein 230) is a Protein Coding gene.

UniProtKB/Swiss-Prot for TMEM230 Gene

  • Involved in trafficking and recycling of synaptic vesicles.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM230 Gene

Genomics for TMEM230 Gene

Regulatory Elements for TMEM230 Gene

Enhancers for TMEM230 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
GH20G005077 1.7 FANTOM5 Ensembl ENCODE 45.4 +33.2 33248 5.1 PKNOX1 FOXA2 ATF1 ZNF766 GATA2 CBX5 ZNF143 ZNF207 FOS JUNB TMEM230 PCNA RASSF2 SLC23A2 PRNP ENSG00000277425 RNA5SP474
GH20G005089 1.5 FANTOM5 Ensembl ENCODE 46 +22.7 22730 1.9 CTCF FOXA2 MAX ZNF644 RAD21 ZBTB40 YY1 RARA GATA3 EED TMEM230 RASSF2 SLC23A2 CDS2 PRNP RNA5SP474 ENSG00000277425
GH20G005072 1.6 FANTOM5 Ensembl ENCODE 37.4 +39.4 39404 2.7 HDGF PKNOX1 DMAP1 ZNF48 ZNF207 ZNF548 MXD4 JUNB REST TBX21 TMEM230 MCM8 SLC23A2 RASSF2 PRNP ENSG00000277425 RNA5SP474
GH20G005055 1.6 FANTOM5 Ensembl ENCODE 29.8 +56.3 56275 1.9 ATF1 ARID4B TCF12 GATA2 ZNF143 FOS ZNF263 REST MIER2 PPARG TMEM230 SLC23A2 RASSF2 PRNP GC20P005059 GC20P005056
GH20G005064 1.5 FANTOM5 Ensembl ENCODE 28 +47.2 47164 2.3 TBP HDGF ARID4B THRB ZNF366 FOS RELB HMG20B KLF11 USF2 TMEM230 PRND PCNA SLC23A2 RASSF2 PRNP ENSG00000278816 ENSG00000277425
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM230 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM230 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000134036 203 1801 HNRNPUL1 PKNOX1 MLX AGO1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for TMEM230 Gene

Chromosome:
20
Start:
5,068,232 bp from pter
End:
5,113,103 bp from pter
Size:
44,872 bases
Orientation:
Minus strand

Genomic View for TMEM230 Gene

Genes around TMEM230 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM230 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM230 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM230 Gene

Proteins for TMEM230 Gene

  • Protein details for TMEM230 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A57-TM230_HUMAN
    Recommended name:
    Transmembrane protein 230
    Protein Accession:
    Q96A57
    Secondary Accessions:
    • B2RDM8
    • D3DVZ9
    • Q0VGC8
    • Q5TDS5
    • Q96ES2
    • Q9P0A7

    Protein attributes for TMEM230 Gene

    Size:
    120 amino acids
    Molecular mass:
    13188 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM230 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM230 Gene

Post-translational modifications for TMEM230 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMEM230 Gene

Domains & Families for TMEM230 Gene

Protein Domains for TMEM230 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM230 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96A57

UniProtKB/Swiss-Prot:

TM230_HUMAN :
  • Belongs to the TMEM134/TMEM230 family.
Family:
  • Belongs to the TMEM134/TMEM230 family.
genes like me logo Genes that share domains with TMEM230: view

No data available for Gene Families for TMEM230 Gene

Function for TMEM230 Gene

Molecular function for TMEM230 Gene

UniProtKB/Swiss-Prot Function:
Involved in trafficking and recycling of synaptic vesicles.
genes like me logo Genes that share phenotypes with TMEM230: view

Animal Model Products

CRISPR Products

miRNA for TMEM230 Gene

miRTarBase miRNAs that target TMEM230

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM230 Gene

Localization for TMEM230 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM230 Gene

Membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Early endosome. Recycling endosome. Late endosome. Cytoplasmic vesicle, autophagosome.

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 TMEM230 gene
Compartment Confidence
golgi apparatus 5
endosome 5
endoplasmic reticulum 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for TMEM230 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA,IEA 27270108
GO:0005770 late endosome IDA,IEA 27270108
GO:0005776 autophagosome IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with TMEM230: view

Pathways & Interactions for TMEM230 Gene

SuperPathways for TMEM230 Gene

No Data Available

Interacting Proteins for TMEM230 Gene

Gene Ontology (GO) - Biological Process for TMEM230 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048489 synaptic vesicle transport IMP 27270108
genes like me logo Genes that share ontologies with TMEM230: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM230 Gene

Drugs & Compounds for TMEM230 Gene

No Compound Related Data Available

Transcripts for TMEM230 Gene

Unigene Clusters for TMEM230 Gene

Transmembrane protein 230:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM230 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - -
SP4: - - - - - - - - - - -
SP5: - - - -
SP6: - - - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - -
SP11: - - - -
SP12: - - - - -
SP13: - - - - - - -
SP14: - - - -
SP15: - - - - - - - - - - - - -
SP16: - - - - - - -
SP17: - - - - - - - - - - - - - - - -
SP18: - - - - - - - - - - - - - - -
SP19: - - -
SP20: - - - - - - -
SP21: - - - - - - - - -
SP22: - - - - - - - -
SP23: - - - - - - -

ExUns: 9b · 9c · 9d · 9e · 9f · 9g · 9h · 9i · 9j · 9k · 9l · 9m · 9n · 9o · 9p
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

Relevant External Links for TMEM230 Gene

GeneLoc Exon Structure for
TMEM230
ECgene alternative splicing isoforms for
TMEM230

Expression for TMEM230 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM230 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM230 Gene

This gene is overexpressed in Bone (29.1) and Tlymphocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM230 Gene



NURSA nuclear receptor signaling pathways regulating expression of TMEM230 Gene:

TMEM230

SOURCE GeneReport for Unigene cluster for TMEM230 Gene:

Hs.472024

Evidence on tissue expression from TISSUES for TMEM230 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Muscle(4.3)
  • Blood(4.1)
  • Pancreas(3.6)
  • Lung(2.9)
  • Skin(2.8)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with TMEM230: 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 TMEM230 Gene

Orthologs for TMEM230 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM230 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM230 34 35
  • 98.41 (n)
cow
(Bos Taurus)
Mammalia TMEM230 34 35
  • 92.5 (n)
dog
(Canis familiaris)
Mammalia TMEM230 34 35
  • 92.5 (n)
rat
(Rattus norvegicus)
Mammalia Tmem230 34
  • 91.39 (n)
mouse
(Mus musculus)
Mammalia Tmem230 34 16 35
  • 91.11 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM230 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM230 35
  • 90 (a)
OneToOne
C22H20ORF30 34
  • 78.89 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem230 34
  • 76.11 (n)
Str.9040 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16046 34
zebrafish
(Danio rerio)
Actinopterygii TMEM230 (1 of 2) 35
  • 76 (a)
OneToMany
TMEM230 (2 of 2) 35
  • 74 (a)
OneToMany
zgc:101123 34
  • 70.28 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3506 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToOne
Species where no ortholog for TMEM230 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TMEM230 Gene

ENSEMBL:
Gene Tree for TMEM230 (if available)
TreeFam:
Gene Tree for TMEM230 (if available)

Paralogs for TMEM230 Gene

(1) SIMAP similar genes for TMEM230 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TMEM230: view

No data available for Paralogs for TMEM230 Gene

Variants for TMEM230 Gene

Sequence variations from dbSNP and Humsavar for TMEM230 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_076713 Parkinson disease (PARK) [MIM:168600]
VAR_076714 Parkinson disease (PARK) [MIM:168600]
rs193920937 Uncertain significance 5,106,258(-) CACTG(C/T)GCTGT reference, missense
rs764786986 Uncertain significance 5,100,921(+) CGGCC(A/C/T)GGTCT intron-variant, reference, missense
rs1000164422 -- 5,093,002(+) AGAGC(A/G)TTAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM230 Gene

Variant ID Type Subtype PubMed ID
nsv1066860 CNV gain 25217958
nsv428375 CNV loss 18775914
nsv833902 CNV loss 17160897

Variation tolerance for TMEM230 Gene

Residual Variation Intolerance Score: 72.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM230 Gene

Human Gene Mutation Database (HGMD)
TMEM230
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM230

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM230 Gene

Disorders for TMEM230 Gene

UniProtKB/Swiss-Prot

TM230_HUMAN
  • Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269 PubMed:27270108}. Note=The gene represented in this entry may be involved in disease pathogenesis. Genetic variants in TMEM230 and DNAJC13 have been found in the same large multigenerational family with adult-onset Parkinson disease. The pathological role of each gene and therefore the exact molecular basis of the disease is unclear. {ECO:0000305 PubMed:27270108}.

Relevant External Links for TMEM230

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM230

No disorders were found for TMEM230 Gene.

No data available for MalaCards and Genatlas for TMEM230 Gene

Publications for TMEM230 Gene

  1. Identification of TMEM230 mutations in familial Parkinson's disease. (PMID: 27270108) Deng H.X. … Siddique T. (Nat. Genet. 2016) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64

Products for TMEM230 Gene

Sources for TMEM230 Gene

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