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TMEM230 transmembrane protein 230 [ Homo sapiens (human) ]

Gene ID: 29058, updated on 22-Aug-2021

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
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

See TMEM230 in Genome Data Viewer
Location:
20p13-p12.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (5064877..5113091, complement)
105.20201022 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 SLC23A2 promoter P1 Neighboring gene ribosomal protein S21 pseudogene 7 Neighboring gene RNA, 5S ribosomal pseudogene 474 Neighboring gene PCNA antisense RNA 1 Neighboring gene proliferating cell nuclear antigen Neighboring gene CDP-diacylglycerol synthase 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
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

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_053057.1 RefSeqGene

    Range
    5012..18238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009923.2NP_001009923.1  transmembrane protein 230 isoform 1

    See identical proteins and their annotated locations for NP_001009923.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF161392, AK055700, BC011990, BC070212
    Consensus CDS
    CCDS33438.1
    UniProtKB/Swiss-Prot
    Q96A57
    Related
    ENSP00000341364.5, ENST00000342308.10
    Conserved Domains (1) summary
    pfam05915
    Location:65181
    DUF872; Eukaryotic protein of unknown function (DUF872)
  2. NM_001009924.2NP_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
    Q96A57
    Related
    ENSP00000368588.2, ENST00000379286.6
    Conserved Domains (1) summary
    pfam05915
    Location:2118
    DUF872; Eukaryotic protein of unknown function (DUF872)
  3. NM_001009925.2NP_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
    Q96A57
    Related
    ENSP00000202834.7, ENST00000202834.11
    Conserved Domains (1) summary
    pfam05915
    Location:2118
    DUF872; Eukaryotic protein of unknown function (DUF872)
  4. NM_001330984.2NP_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
    Q96A57
    Related
    ENSP00000368579.2, ENST00000379277.6
    Conserved Domains (1) summary
    pfam05915
    Location:2118
    DUF872; Eukaryotic protein of unknown function (DUF872)
  5. NM_001330985.2NP_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
    Q96A57
    Related
    ENSP00000368585.2, ENST00000379283.6
    Conserved Domains (1) summary
    pfam05915
    Location:2118
    DUF872; Eukaryotic protein of unknown function (DUF872)
  6. NM_001330986.2NP_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
    Q96A57
    Related
    ENSP00000368581.2, ENST00000379279.6
    Conserved Domains (1) summary
    pfam05915
    Location:2118
    DUF872; Eukaryotic protein of unknown function (DUF872)
  7. NM_001330987.2NP_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
  8. NM_014145.5NP_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
    Q96A57
    Related
    ENSP00000368601.2, ENST00000379299.6
    Conserved Domains (1) summary
    pfam05915
    Location:2118
    DUF872; Eukaryotic protein of unknown function (DUF872)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    5064877..5113091 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451879.1XP_024307647.1  transmembrane protein 230 isoform X1

  2. XM_017027836.2XP_016883325.1  transmembrane protein 230 isoform X2

    UniProtKB/Swiss-Prot
    Q96A57
    Conserved Domains (1) summary
    pfam05915
    Location:2118
    DUF872; Eukaryotic protein of unknown function (DUF872)

RNA

  1. XR_002958477.1 RNA Sequence

  2. XR_002958480.1 RNA Sequence

  3. XR_002958476.1 RNA Sequence

  4. XR_002958479.1 RNA Sequence

  5. XR_002958481.1 RNA Sequence

  6. XR_002958483.1 RNA Sequence

  7. XR_002958482.1 RNA Sequence

  8. XR_002958478.1 RNA Sequence

  9. XR_002958484.1 RNA Sequence

  10. XR_002958485.1 RNA Sequence

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