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    TMEM263 transmembrane protein 263 [ Homo sapiens (human) ]

    Gene ID: 90488, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM263provided by HGNC
    Official Full Name
    transmembrane protein 263provided by HGNC
    Primary source
    HGNC:HGNC:28281
    See related
    Ensembl:ENSG00000151135 AllianceGenome:HGNC:28281
    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
    C12orf23
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 17.2), placenta (RPKM 16.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM263 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (106955907..106974035)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (106919542..106937669)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (107349685..107367813)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L30 pseudogene 12 Neighboring gene Sharpr-MPRA regulatory region 9924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6950 Neighboring gene TMEM263 divergent transcript Neighboring gene mitochondrial transcription termination factor 2 Neighboring gene MPRA-validated peak1931 silencer Neighboring gene cryptochrome circadian regulator 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4820

    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. A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chicken. Wu Z, et al. Front Genet, 2018. PMID 29930570, Free PMC Article
    2. TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia. Mohajeri MSA, et al. Hum Genomics, 2021 Jul 8. PMID 34238371, Free PMC Article
    3. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Estrada K, et al. Nat Genet, 2012 Apr 15. PMID 22504420, Free PMC Article
    4. Glutamine Triggers Acetylation-Dependent Degradation of Glutamine Synthetase via the Thalidomide Receptor Cereblon. Nguyen TV, et al. Mol Cell, 2016 Mar 17. PMID 26990986, Free PMC Article
    5. ROR2 Downregulation Activates the MSX2/NSUN2/p21 Regulatory Axis and Promotes Dental Pulp Stem Cell Senescence. He X, et al. Stem Cells, 2022 Mar 31. PMID 35356984

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia.
      Title: TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog

    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

    • FLJ11721, FLJ13959, MGC17943

    Gene Ontology Provided by GOA

    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 263
    Names
    UPF0444 transmembrane protein C12orf23

    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_001319661.2 → NP_001306590.1  transmembrane protein 263 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (a). Variants 1, 2, 3, 4, and 5 encode isoform a.
      Source sequence(s)
      AC007541, AK022770, BC020522, BM979283, DB091654
      Consensus CDS
      CCDS9110.1
      UniProtKB/Swiss-Prot
      B3KMN9, Q8WUH6
      Related
      ENSP00000449785.1, ENST00000548125.5
      Conserved Domains (1) summary
      pfam15475
      Location:25 → 115
      UPF0444; Transmembrane protein C12orf23, UPF0444

    2. NM_001319662.2 → NP_001306591.1  transmembrane protein 263 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode isoform a.
      Source sequence(s)
      AC007541, BC020522, BM979283, DA609590
      Consensus CDS
      CCDS9110.1
      UniProtKB/Swiss-Prot
      B3KMN9, Q8WUH6
      Related
      ENSP00000449106.1, ENST00000547081.1
      Conserved Domains (1) summary
      pfam15475
      Location:25 → 115
      UPF0444; Transmembrane protein C12orf23, UPF0444

    3. NM_001319663.2 → NP_001306592.1  transmembrane protein 263 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains two alternate exons in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode isoform a.
      Source sequence(s)
      AC007541, BC020522, BM979283, CX166555
      Consensus CDS
      CCDS9110.1
      UniProtKB/Swiss-Prot
      B3KMN9, Q8WUH6
      Related
      ENSP00000446537.1, ENST00000547242.5
      Conserved Domains (1) summary
      pfam15475
      Location:25 → 115
      UPF0444; Transmembrane protein C12orf23, UPF0444

    4. NM_001319664.2 → NP_001306593.1  transmembrane protein 263 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains two alternate exons in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode isoform a.
      Source sequence(s)
      AC007541, BC020522, BM979283, DB091654, DB233011
      Consensus CDS
      CCDS9110.1
      UniProtKB/Swiss-Prot
      B3KMN9, Q8WUH6
      Related
      ENSP00000446717.1, ENST00000550344.5
      Conserved Domains (1) summary
      pfam15475
      Location:25 → 115
      UPF0444; Transmembrane protein C12orf23, UPF0444

    5. NM_001319666.2 → NP_001306595.1  transmembrane protein 263 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains alternate exons in the 5' region and in the 3' region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AC007541, BC020522, BM979283, DB226324
      UniProtKB/Swiss-Prot
      Q8WUH6
      Conserved Domains (1) summary
      pfam15475
      Location:2 → 92
      UPF0444; Transmembrane protein C12orf23, UPF0444

    6. NM_152261.4 → NP_689474.1  transmembrane protein 263 isoform a

      See identical proteins and their annotated locations for NP_689474.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode isoform a.
      Source sequence(s)
      AL117658, BC020522, BM979283, DB091654
      Consensus CDS
      CCDS9110.1
      UniProtKB/Swiss-Prot
      B3KMN9, Q8WUH6
      Related
      ENSP00000280756.4, ENST00000280756.9
      Conserved Domains (1) summary
      pfam15475
      Location:25 → 115
      UPF0444; Transmembrane protein C12orf23, UPF0444

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      106955907..106974035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      106919542..106937669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUH6.1 GenPept UniProtKB/Swiss-Prot:Q8WUH6

    Gene LinkOut

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

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