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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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