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TMEM247 transmembrane protein 247 [ Homo sapiens (human) ]

Gene ID: 388946, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM247provided by HGNC
Official Full Name
transmembrane protein 247provided by HGNC
Primary source
HGNC:HGNC:42967
See related
Ensembl:ENSG00000284701 AllianceGenome:HGNC:42967
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
Summary
Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 13.2) See more
Orthologs
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Genomic context

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See TMEM247 in Genome Data Viewer
Location:
2p21
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (46479565..46484425)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (46484583..46489482)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46706704..46711564)

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 Sharpr-MPRA regulatory region 2986 Neighboring gene RNA, 7SL, cytoplasmic 817, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:46704474-46705040 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:46705041-46705607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15704 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr2:46717178-46717710 and GRCh37_chr2:46717711-46718243 Neighboring gene uncharacterized LOC124906002 Neighboring gene ATPase H+ transporting V1 subunit E2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11448 Neighboring gene ras homolog family member Q

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. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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 Variation Viewer (GRCh37.p13)

General gene information

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Homology

Gene Ontology Provided by GOA

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

General protein information

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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_001424184.1 → NP_001411113.1  transmembrane protein 247

    Status: VALIDATED

    Source sequence(s)
    AC018682
    Consensus CDS
    CCDS56117.1
    UniProtKB/Swiss-Prot
    A6NEH6

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_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    46484583..46489482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NEH6.2 GenPept UniProtKB/Swiss-Prot:A6NEH6

Gene LinkOut

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