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    TMEM230 transmembrane protein 230 [ Homo sapiens (human) ]

    Gene ID: 29058, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    See TMEM230 in Genome Data Viewer
    Location:
    20p13-p12.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (5059116..5113076, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (5106395..5152503, complement)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axonal transport PubMed 
    involved_in axonal transport PubMed 
    involved_in synaptic vesicle transport  
    involved_in synaptic vesicle transport PubMed 
    Component Evidence Code Pubs
    located_in autophagosome  
    located_in axon  
    located_in early endosome PubMed 
    is_active_in endomembrane system  
    located_in endoplasmic reticulum  
    located_in late endosome PubMed 
    located_in membrane  
    located_in recycling endosome PubMed 
    is_active_in synaptic vesicle  
    located_in synaptic vesicle PubMed 
    located_in trans-Golgi network PubMed 

    General protein information

    Preferred Names
    transmembrane protein 230
    Names
    UPF0414 transmembrane protein C20orf30

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, ENST00000202834.12
      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, ENST00000379277.7
      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
      Related
      ENSP00000341364.6, ENST00000342308.11
    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_2024_08

    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

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