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TMEM263 transmembrane protein 263 [ Homo sapiens (human) ]

Gene ID: 90488, updated on 1-Jun-2020

Summary

Official Symbol
TMEM263provided by HGNC
Official Full Name
transmembrane protein 263provided by HGNC
Primary source
HGNC:HGNC:28281
See related
Ensembl:ENSG00000151135
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
Expression
Ubiquitous expression in thyroid (RPKM 17.2), placenta (RPKM 16.6) and 25 other tissues See more
Orthologs

Genomic context

See TMEM263 in Genome Data Viewer
Location:
12q23.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (106955722..106974037)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (107347298..107367813)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 4 Neighboring gene ribosomal protein L30 pseudogene 12 Neighboring gene Sharpr-MPRA regulatory region 9924 Neighboring gene mitochondrial transcription termination factor 2 Neighboring gene cryptochrome circadian regulator 1 Neighboring gene Sharpr-MPRA regulatory region 11431

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11721, FLJ13959, MGC17943

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 263
Names
UPF0444 transmembrane protein C12orf23

NCBI Reference Sequences (RefSeq)

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_001319661.1NP_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
    Q8WUH6
    Related
    ENSP00000449785.1, ENST00000548125.5
    Conserved Domains (1) summary
    pfam15475
    Location:25115
    UPF0444; Transmembrane protein C12orf23, UPF0444
  2. NM_001319662.1NP_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
    Q8WUH6
    Related
    ENSP00000449106.1, ENST00000547081.1
    Conserved Domains (1) summary
    pfam15475
    Location:25115
    UPF0444; Transmembrane protein C12orf23, UPF0444
  3. NM_001319663.1NP_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, DB091654
    Consensus CDS
    CCDS9110.1
    UniProtKB/Swiss-Prot
    Q8WUH6
    Related
    ENSP00000446537.1, ENST00000547242.5
    Conserved Domains (1) summary
    pfam15475
    Location:25115
    UPF0444; Transmembrane protein C12orf23, UPF0444
  4. NM_001319664.1NP_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
    Q8WUH6
    Related
    ENSP00000446717.1, ENST00000550344.5
    Conserved Domains (1) summary
    pfam15475
    Location:25115
    UPF0444; Transmembrane protein C12orf23, UPF0444
  5. NM_001319666.1NP_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, DB091654, DB226324
    UniProtKB/Swiss-Prot
    Q8WUH6
    Conserved Domains (1) summary
    pfam15475
    Location:292
    UPF0444; Transmembrane protein C12orf23, UPF0444
  6. NM_152261.4NP_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
    Q8WUH6
    Related
    ENSP00000280756.4, ENST00000280756.9
    Conserved Domains (1) summary
    pfam15475
    Location:25115
    UPF0444; Transmembrane protein C12orf23, UPF0444

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    106955722..106974037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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