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TMEM230 transmembrane protein 230 [ Homo sapiens (human) ]

Gene ID: 29058, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM230provided by HGNC
Official Full Name
transmembrane protein 230provided by HGNC
Primary source
HGNC:HGNC:15876
See related
Ensembl:ENSG00000089063 MIM:617019; AllianceGenome:HGNC:15876
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSPC274; C20orf30; dJ1116H23.2.1
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 47.0), thyroid (RPKM 44.5) and 25 other tissues See more
Orthologs
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Genomic context

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See TMEM230 in Genome Data Viewer
Location:
20p13-p12.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (5059116..5113076, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (5106395..5152503, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (5049021..5093722, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 23 member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4874687-4875187 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4877415-4877936 Neighboring gene Sharpr-MPRA regulatory region 14391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12650 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:4953768-4954967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4979144-4979644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12651 Neighboring gene SLC23A2 promoter P2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17504 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4983486-4984137 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:4984138-4984788 Neighboring gene SLC23A2 promoter P1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:5008813-5009342 Neighboring gene ribosomal protein S21 pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:5013735-5013892 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:5025885-5026104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17505 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:5041439-5042638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:5046523-5047023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:5053633-5054152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:5054153-5054671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:5062418-5062918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17509 Neighboring gene RNA, 5S ribosomal pseudogene 474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17510 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:5099178-5100058 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:5100059-5100939 Neighboring gene small nucleolar RNA SNORA26 Neighboring gene PCNA antisense RNA 1 Neighboring gene proliferating cell nuclear antigen

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutant-TMEM230-induced neurodegeneration and impaired axonal mitochondrial transport. Wang X, et al. Hum Mol Genet, 2021 Jul 28. PMID 34002226
  2. Controversy of TMEM230 Associated with Parkinson's Disease. Wang X, et al. Neuroscience, 2021 Jan 15. PMID 33212219
  3. Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy. Procopio R, et al. J Neurol Sci, 2019 Sep 15. PMID 31323517
  4. Analysis of the TMEM230 gene in patients with multiple system atrophy. Procopio R, et al. J Neurol Sci, 2018 Sep 15. PMID 30056200
  5. TMEM230 in Parkinson's disease in a southern Spanish population. Tejera-Parrado C, et al. PLoS One, 2018. PMID 29771939, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This study did not detect the identified familial PD-linked *184ProGlyext*5 mutation.
    Title: Sequencing TMEM230 in Chinese patients with sporadic or familial Parkinson's disease.
  2. Controversy of TMEM230 Associated with Parkinson's Disease.
    Title: Controversy of TMEM230 Associated with Parkinson's Disease.
  3. Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy.
    Title: Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy.
  4. No pathogenic TMEM230 variants were detect in patient with multiple system atrophy.
    Title: Analysis of the TMEM230 gene in patients with multiple system atrophy.
  5. The findings of this study suggested that TMEM230 mutations may not play a role in the development of familial Parkinson's disease.
    Title: Genetic analysis of TMEM230 in Japanese patients with familial Parkinson's disease.
  6. TMEM230 mutations are very rare in the autosomal dominant inherited Parkinson's disease Han Chinese population.
    Title: TMEM230 Mutations Are Rare in Han Chinese Patients with Autosomal Dominant Parkinson's Disease.
  7. Findings suggest that the incidence of pathogenic variations in TMEM230 is very low and, therefore, TMEM230 do not play a major role in familial and sporadic Parkinson's disease patients in southern Spanish population which can have important implication in clinical investigation.
    Title: TMEM230 in Parkinson's disease in a southern Spanish population.
  8. These results suggest that TMEM230 mutations are not a frequent cause of PD with AD inheritance in the Italian population.
    Title: Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.
  9. TMEM230 mutations are rare in Chinese patients with familial PD.
    Title: Genetic analysis of the TMEM230 gene in Chinese patients with familial Parkinson disease.
  10. This study suggest that mutations in TMEM230 are not a common cause of Parkinson's disease.
    Title: Mutations in TMEM230 are not a common cause of Parkinson's disease.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic vesicle transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in autophagosome IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in synaptic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transmembrane protein 230
Names
UPF0414 transmembrane protein C20orf30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053057.2 RefSeqGene

    Range
    5000..18226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009924.2 → NP_001009924.1  transmembrane protein 230 isoform 2

    See identical proteins and their annotated locations for NP_001009924.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional segment in the 5' region and uses a downstream AUG codon for translation initiation, as compared to variant 1. The encoded isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK055700, BC011990, BC070212
    Consensus CDS
    CCDS13086.1
    UniProtKB/Swiss-Prot
    B2RDM8, D3DVZ9, Q0VGC8, Q5TDS5, Q96A57, Q96ES2, Q9P0A7
    Related
    ENSP00000368588.2, ENST00000379286.6
    Conserved Domains (1) summary
    pfam05915
    Location:2 → 118
    DUF872; Eukaryotic protein of unknown function (DUF872)

  2. NM_001009925.2 → NP_001009925.1  transmembrane protein 230 isoform 2

    See identical proteins and their annotated locations for NP_001009925.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 5' region, and uses a downstream AUG codon for translation initiation, as compared to variant 1. The encoded isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    BC009768, BC011990, BC070212
    Consensus CDS
    CCDS13086.1
    UniProtKB/Swiss-Prot
    B2RDM8, D3DVZ9, Q0VGC8, Q5TDS5, Q96A57, Q96ES2, Q9P0A7
    Related
    ENSP00000202834.7, ENST00000202834.11
    Conserved Domains (1) summary
    pfam05915
    Location:2 → 118
    DUF872; Eukaryotic protein of unknown function (DUF872)

  3. NM_001330984.2 → NP_001317913.1  transmembrane protein 230 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences in the 5' region and uses a downstream AUG codon for translation initiation, as compared to variant 1. The encoded isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK309823, AY359115, BC009769, BC011990, CB159725
    Consensus CDS
    CCDS13086.1
    UniProtKB/Swiss-Prot
    B2RDM8, D3DVZ9, Q0VGC8, Q5TDS5, Q96A57, Q96ES2, Q9P0A7
    Related
    ENSP00000368579.2, ENST00000379277.6
    Conserved Domains (1) summary
    pfam05915
    Location:2 → 118
    DUF872; Eukaryotic protein of unknown function (DUF872)

  4. NM_001330985.2 → NP_001317914.1  transmembrane protein 230 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences in the 5' region and uses a downstream AUG codon for translation initiation, as compared to variant 1. The encoded isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK309823, AY359115, BC011990, BG282589
    Consensus CDS
    CCDS13086.1
    UniProtKB/Swiss-Prot
    B2RDM8, D3DVZ9, Q0VGC8, Q5TDS5, Q96A57, Q96ES2, Q9P0A7
    Related
    ENSP00000368585.2, ENST00000379283.6
    Conserved Domains (1) summary
    pfam05915
    Location:2 → 118
    DUF872; Eukaryotic protein of unknown function (DUF872)

  5. NM_001330986.2 → NP_001317915.1  transmembrane protein 230 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in the 5' region and uses a downstream AUG codon for translation initiation, as compared to variant 1. The encoded isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK309823, BC009769, BC011990, DA606669
    Consensus CDS
    CCDS13086.1
    UniProtKB/Swiss-Prot
    B2RDM8, D3DVZ9, Q0VGC8, Q5TDS5, Q96A57, Q96ES2, Q9P0A7
    Related
    ENSP00000368581.2, ENST00000379279.6
    Conserved Domains (1) summary
    pfam05915
    Location:2 → 118
    DUF872; Eukaryotic protein of unknown function (DUF872)

  6. NM_001330987.2 → NP_001317916.1  transmembrane protein 230 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an exon in the 5' region, uses a downstream AUG codon for translation initiation, and has an alternate 3' terminal exon, as compared to variant 1. The encoded isoform (3) has a shorter N-terminus and a distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AK309823, AL121890
    Consensus CDS
    CCDS82597.1
    UniProtKB/TrEMBL
    A0A087WTT2
    Related
    ENSP00000478641.1, ENST00000612323.4

  7. NM_001423980.1 → NP_001410909.1  transmembrane protein 230 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL121890, AL121924
    UniProtKB/Swiss-Prot
    B2RDM8, D3DVZ9, Q0VGC8, Q5TDS5, Q96A57, Q96ES2, Q9P0A7

  8. NM_014145.5 → NP_054864.3  transmembrane protein 230 isoform 2

    See identical proteins and their annotated locations for NP_054864.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an additional segment but lacks an exon in the 5' region, and uses a downstream AUG codon for translation initiation, as compared to variant 1. The encoded isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AY359115, BC009768, BC011990, BC070212
    Consensus CDS
    CCDS13086.1
    UniProtKB/Swiss-Prot
    B2RDM8, D3DVZ9, Q0VGC8, Q5TDS5, Q96A57, Q96ES2, Q9P0A7
    Related
    ENSP00000368601.2, ENST00000379299.6
    Conserved Domains (1) summary
    pfam05915
    Location:2 → 118
    DUF872; Eukaryotic protein of unknown function (DUF872)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    5059116..5113076 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440132.1 → XP_047296088.1  transmembrane protein 230 isoform X1

RNA

  1. XR_007067454.1 RNA Sequence

  2. XR_002958479.2 RNA Sequence

  3. XR_002958478.2 RNA Sequence

  4. XR_002958476.2 RNA Sequence

  5. XR_002958484.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    5106395..5152503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323400.1 → XP_054179375.1  transmembrane protein 230 isoform X1

RNA

  1. XR_008485259.1 RNA Sequence

  2. XR_008485258.1 RNA Sequence

  3. XR_008485257.1 RNA Sequence

  4. XR_008485260.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001009923.2: Suppressed sequence

    Description
    NM_001009923.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96A57.1 GenPept UniProtKB/Swiss-Prot:Q96A57

Gene LinkOut

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