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TMEM247 transmembrane protein 247 [ Homo sapiens (human) ]

Gene ID: 388946, updated on 23-Nov-2021

Summary

Official Symbol
TMEM247provided by HGNC
Official Full Name
transmembrane protein 247provided by HGNC
Primary source
HGNC:HGNC:42967
See related
Ensembl:ENSG00000284701
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
Expression
Restricted expression toward testis (RPKM 13.2) See more
Orthologs
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Genomic context

See TMEM247 in Genome Data Viewer
Location:
2p21
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (46479565..46484425)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46706704..46711562)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1085/2665 Neighboring gene long intergenic non-protein coding RNA 2583 Neighboring gene RNA, 7SL, cytoplasmic 817, pseudogene Neighboring gene ATPase H+ transporting V1 subunit E2 Neighboring gene ras homolog family member Q Neighboring gene RHOQ antisense RNA 1

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

General gene information

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 247
Names
transmembrane protein ENSP00000343375

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_001145051.2NP_001138523.1  transmembrane protein 247

    See identical proteins and their annotated locations for NP_001138523.1

    Status: VALIDATED

    Source sequence(s)
    AA431175, AA432195, AC018682
    Consensus CDS
    CCDS56117.1
    UniProtKB/Swiss-Prot
    A6NEH6
    Related
    ENSP00000388684.1, ENST00000434431.2
    Conserved Domains (1) summary
    pfam15444
    Location:1219
    TMEM247; Transmembrane protein 247

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    46479565..46484425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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