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TMEM263 transmembrane protein 263 [ Homo sapiens (human) ]

Gene ID: 90488, updated on 7-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 17.2), placenta (RPKM 16.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q23.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (106955907..106974035)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (106919542..106937669)
105.20220307 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. 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
  2. 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
  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 (34) 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)

Genotypes

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_2023_10

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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