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    TMEM234 transmembrane protein 234 [ Homo sapiens (human) ]

    Gene ID: 56063, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM234provided by HGNC
    Official Full Name
    transmembrane protein 234provided by HGNC
    Primary source
    HGNC:HGNC:28837
    See related
    Ensembl:ENSG00000160055 MIM:620289; AllianceGenome:HGNC:28837
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AASL548; C1orf91; PRO1105; RP4-622L5; dJ622L5.7
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.0), thyroid (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM234 in Genome Data Viewer
    Location:
    1p35.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32214477..32222353, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32072380..32080257, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (32680078..32687954, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene taxilin alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:32664855-32665413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:32665414-32665971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 672 Neighboring gene coiled-coil domain containing 28B Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:32666522-32667041 and GRCh37_chr1:32667042-32667562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:32670259-32670760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 675 Neighboring gene IQ motif containing C Neighboring gene doublecortin domain containing 2B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:32681346-32682545 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:32687227-32688426 Neighboring gene eukaryotic translation initiation factor 3 subunit I Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:32698370-32698870 Neighboring gene myotubularin related protein 9 like, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 678 Neighboring gene family with sequence similarity 167 member B

    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. Knockdown of Tmem234 in zebrafish results in proteinuria. Rodriguez PQ, et al. Am J Physiol Renal Physiol, 2015 Dec 1. PMID 26377798
    2. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    3. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90779

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 234

    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.

    mRNA and Protein(s)

    1. NM_001366191.2 → NP_001353120.1  transmembrane protein 234 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) encodes the longer isoform (b).
      Source sequence(s)
      AL049795
      Consensus CDS
      CCDS90906.1
      UniProtKB/Swiss-Prot
      B2R535, D3DPP7, Q6UWY9, Q8N2H6, Q8WY98, Q9BSR2, Q9NU76
      Related
      ENSP00000344021.3, ENST00000344461.7
      Conserved Domains (1) summary
      pfam10639
      Location:18 → 126
      TMEM234; Putative transmembrane family 234

    2. NM_019118.5 → NP_061991.3  transmembrane protein 234 isoform a precursor

      See identical proteins and their annotated locations for NP_061991.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AK295232, BC004885
      Consensus CDS
      CCDS356.2
      UniProtKB/Swiss-Prot
      Q8WY98
      UniProtKB/TrEMBL
      B4DHR3
      Related
      ENSP00000309792.6, ENST00000309777.11
      Conserved Domains (1) summary
      pfam10639
      Location:18 → 126
      TMEM234; Putative transmembrane family 234

    RNA

    1. NR_133634.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK295232, BC004885, BP307734

    2. NR_133635.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains several additional exons at the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK295232, BC038842

    3. NR_133636.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon and several additional exons at the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK295232, BC001256
      Related
      ENST00000491434.5

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      32214477..32222353 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001816.2 → XP_016857305.1  transmembrane protein 234 isoform X1

      Conserved Domains (1) summary
      pfam10639
      Location:18 → 126
      TMEM234; Putative transmembrane family 234

    2. XM_047425479.1 → XP_047281435.1  transmembrane protein 234 isoform X2

      UniProtKB/Swiss-Prot
      B2R535, D3DPP7, Q6UWY9, Q8N2H6, Q8WY98, Q9BSR2, Q9NU76
      Related
      ENSP00000433020.1, ENST00000461402.5

    3. XM_047425483.1 → XP_047281439.1  transmembrane protein 234 isoform X2

      UniProtKB/Swiss-Prot
      B2R535, D3DPP7, Q6UWY9, Q8N2H6, Q8WY98, Q9BSR2, Q9NU76

    4. XM_047425485.1 → XP_047281441.1  transmembrane protein 234 isoform X2

      UniProtKB/Swiss-Prot
      B2R535, D3DPP7, Q6UWY9, Q8N2H6, Q8WY98, Q9BSR2, Q9NU76

    5. XM_047425493.1 → XP_047281449.1  transmembrane protein 234 isoform X3

      UniProtKB/TrEMBL
      B4DHR3

    6. XM_017001825.2 → XP_016857314.1  transmembrane protein 234 isoform X3

      UniProtKB/TrEMBL
      B4DHR3
      Conserved Domains (1) summary
      pfam10639
      Location:18 → 116
      TMEM234; Putative transmembrane family 234

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      32072380..32080257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337720.1 → XP_054193695.1  transmembrane protein 234 isoform X1

    2. XM_054337726.1 → XP_054193701.1  transmembrane protein 234 isoform X5

    3. XM_054337721.1 → XP_054193696.1  transmembrane protein 234 isoform X2

      UniProtKB/Swiss-Prot
      B2R535, D3DPP7, Q6UWY9, Q8N2H6, Q8WY98, Q9BSR2, Q9NU76

    4. XM_054337722.1 → XP_054193697.1  transmembrane protein 234 isoform X2

      UniProtKB/Swiss-Prot
      B2R535, D3DPP7, Q6UWY9, Q8N2H6, Q8WY98, Q9BSR2, Q9NU76

    5. XM_054337719.1 → XP_054193694.1  transmembrane protein 234 isoform X4

    6. XM_054337718.1 → XP_054193693.1  transmembrane protein 234 isoform X4

    7. XM_054337723.1 → XP_054193698.1  transmembrane protein 234 isoform X2

      UniProtKB/Swiss-Prot
      B2R535, D3DPP7, Q6UWY9, Q8N2H6, Q8WY98, Q9BSR2, Q9NU76

    8. XM_054337724.1 → XP_054193699.1  transmembrane protein 234 isoform X3

      UniProtKB/TrEMBL
      B4DHR3

    9. XM_054337725.1 → XP_054193700.1  transmembrane protein 234 isoform X3

      UniProtKB/TrEMBL
      B4DHR3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WY98.1 GenPept UniProtKB/Swiss-Prot:Q8WY98

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