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TMEM253 transmembrane protein 253 [ Homo sapiens (human) ]

Gene ID: 643382, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM253provided by HGNC
Official Full Name
transmembrane protein 253provided by HGNC
Primary source
HGNC:HGNC:32545
See related
Ensembl:ENSG00000232070 AllianceGenome:HGNC:32545
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
C14orf95; C14orf176; NCRNA00220
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in duodenum (RPKM 26.0), small intestine (RPKM 24.6) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
14q11.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21098836..21103724)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15296249..15301137)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21566995..21571883)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NDRG family member 2 Neighboring gene ribonuclease A family member 8 Neighboring gene Rho guanine nucleotide exchange factor 40 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21539187-21539808 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21550650-21551849 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21552808-21554007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21554944-21555488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21555489-21556031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21558438-21559283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21559284-21560128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5581 Neighboring gene Sharpr-MPRA regulatory region 8150 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21565235-21565736 Neighboring gene zinc finger protein 219 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21566496-21566996 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21571456-21572200 Neighboring gene RNA, U6 small nuclear 252, pseudogene Neighboring gene cytoskeleton associated protein 2 pseudogene 1

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 analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
  2. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, 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 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

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 253
Names
transmembrane protein C14orf176

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_001146683.2 → NP_001140155.1  transmembrane protein 253 isoform 1

    See identical proteins and their annotated locations for NP_001140155.1

    Status: VALIDATED

    Source sequence(s)
    AL161668
    Consensus CDS
    CCDS53884.1
    UniProtKB/Swiss-Prot
    P0C7T8
    Related
    ENSP00000453962.1, ENST00000418511.6

  2. NM_001395464.1 → NP_001382393.1  transmembrane protein 253 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL161668

  3. NM_001395465.1 → NP_001382394.1  transmembrane protein 253 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL161668

  4. NM_001395466.1 → NP_001382395.1  transmembrane protein 253 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL161668

  5. NM_001395467.1 → NP_001382396.1  transmembrane protein 253 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL161668
    Consensus CDS
    CCDS53884.1
    UniProtKB/Swiss-Prot
    P0C7T8
    Related
    ENSP00000451229.2, ENST00000556585.3

RNA

  1. NR_172562.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161668

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    21098836..21103724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537078.3 → XP_011535380.1  transmembrane protein 253 isoform X1

    See identical proteins and their annotated locations for XP_011535380.1

    UniProtKB/Swiss-Prot
    P0C7T8

  2. XM_011537079.3 → XP_011535381.1  transmembrane protein 253 isoform X1

    See identical proteins and their annotated locations for XP_011535381.1

    UniProtKB/Swiss-Prot
    P0C7T8

  3. XM_011537084.3 → XP_011535386.1  transmembrane protein 253 isoform X3

  4. XM_011537083.3 → XP_011535385.1  transmembrane protein 253 isoform X2

  5. XM_047431689.1 → XP_047287645.1  transmembrane protein 253 isoform X5

  6. XM_011537085.3 → XP_011535387.1  transmembrane protein 253 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    15296249..15301137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376587.1 → XP_054232562.1  transmembrane protein 253 isoform X1

    UniProtKB/Swiss-Prot
    P0C7T8

  2. XM_054376588.1 → XP_054232563.1  transmembrane protein 253 isoform X1

    UniProtKB/Swiss-Prot
    P0C7T8

  3. XM_054376590.1 → XP_054232565.1  transmembrane protein 253 isoform X3

  4. XM_054376589.1 → XP_054232564.1  transmembrane protein 253 isoform X2

  5. XM_054376592.1 → XP_054232567.1  transmembrane protein 253 isoform X5

  6. XM_054376591.1 → XP_054232566.1  transmembrane protein 253 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0C7T8.1 GenPept UniProtKB/Swiss-Prot:P0C7T8

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