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    TMEM254 transmembrane protein 254 [ Homo sapiens (human) ]

    Gene ID: 80195, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TMEM254provided by HGNC
    Official Full Name
    transmembrane protein 254provided by HGNC
    Primary source
    HGNC:HGNC:25804
    See related
    Ensembl:ENSG00000133678 AllianceGenome:HGNC:25804
    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
    C10orf57; bA369J21.6
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 17.6), prostate (RPKM 13.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM254 in Genome Data Viewer
    Location:
    10q22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80078665..80092551)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (80947824..80961714)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81838421..81852307)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:81795195-81795714 Neighboring gene C1D nuclear receptor corepressor pseudogene 2 Neighboring gene TMEM254 antisense RNA 1 Neighboring gene C1D nuclear receptor corepressor pseudogene 4 Neighboring gene ribosomal protein L22 pseudogene 18 Neighboring gene placenta associated 9

    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 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. Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. Kim DK, et al. Am J Respir Crit Care Med, 2012 Dec 15. PMID 23144326, Free PMC Article
    2. Lineage-specific gene duplication and loss in human and great ape evolution. Fortna A, et al. PLoS Biol, 2004 Jul. PMID 15252450, Free PMC Article
    3. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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 association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    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

    • FLJ13263

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 254
    Names
    transmembrane protein C10orf57

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001270367.1 → NP_001257296.1  transmembrane protein 254 isoform 2

      See identical proteins and their annotated locations for NP_001257296.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the use of an alternate promoter at the 5' end, compared to variant 1. Variant 2 encodes an isoform (2) with a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK300490, AL832397, AL832483, BC022252
      UniProtKB/TrEMBL
      B4DU43
      Related
      ENSP00000361347.3, ENST00000372273.7
      Conserved Domains (1) summary
      pfam14934
      Location:50 → 136
      DUF4499; Domain of unknown function (DUF4499)

    2. NM_001270368.1 → NP_001257297.1  transmembrane protein 254 isoform 3

      See identical proteins and their annotated locations for NP_001257297.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the use of an alternate promoter at the 5' end and contains an alternate segment in the 3' coding region which introduces an early stop codon, compared to variant 1. Variant 3 encodes an isoform (3) with a longer and distinct N-terminus but shorter C-terminus, compared to isoform 1. Variants 3 and 4 encode the same isoform (3) but their stop codons reside on different exons.
      Source sequence(s)
      AK300490, AK309980, AL832397, BC022252
      UniProtKB/Swiss-Prot
      Q8TBM7
      UniProtKB/TrEMBL
      B4DU43
      Conserved Domains (1) summary
      pfam14934
      Location:50 → 108
      DUF4499; Domain of unknown function (DUF4499)

    3. NM_001270369.1 → NP_001257298.1  transmembrane protein 254 isoform 3

      See identical proteins and their annotated locations for NP_001257298.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the use of an alternate promoter at the 5' end and contains an alternate exon in the 3' coding region which introduces an early stop codon, compared to variant 1. Variant 4 encodes an isoform (3) with a longer and distinct N-terminus but shorter C-terminus, compared to isoform 1. Variants 3 and 4 encode the same isoform (3) but their stop codons reside on different exons.
      Source sequence(s)
      AK300490, AK309980, AL832397, BC022252, BP293793
      UniProtKB/Swiss-Prot
      Q8TBM7
      UniProtKB/TrEMBL
      B4DU43
      Conserved Domains (1) summary
      pfam14934
      Location:50 → 108
      DUF4499; Domain of unknown function (DUF4499)

    4. NM_001270370.2 → NP_001257299.1  transmembrane protein 254 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains two alternate exons in the 3' coding region, compared to variant 1, which result in an isoform (4) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL832397, BC022252, CX756014, DA520338
      Consensus CDS
      CCDS58086.1
      UniProtKB/Swiss-Prot
      Q8TBM7
      Related
      ENSP00000361348.1, ENST00000372274.5
      Conserved Domains (1) summary
      pfam14934
      Location:26 → 86
      DUF4499; Domain of unknown function (DUF4499)

    5. NM_001270371.2 → NP_001257300.1  transmembrane protein 254 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains an alternate exon in the 5' coding region, compared to variant 1, which introduces a frameshift and results in an isoform (5) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK309425, AL832397, BC022252
      Consensus CDS
      CCDS73157.1
      UniProtKB/TrEMBL
      A0A087WZM8
      Related
      ENSP00000482766.1, ENST00000613758.4

    6. NM_001270372.2 → NP_001257301.1  transmembrane protein 254 isoform 6

      See identical proteins and their annotated locations for NP_001257301.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) contains an alternate segment in the 3' coding region which introduces an early stop codon, compared to variant 1. Variant 7 encodes an isoform (6) with a shorter C-terminus, compared to isoform 1. Variants 7 and 8 encode the same isoform (6) but their stop codons reside on different exons.
      Source sequence(s)
      AL832397, BC022252, DA520338, DA930892
      UniProtKB/Swiss-Prot
      Q8TBM7
      Conserved Domains (1) summary
      pfam14934
      Location:26 → 84
      DUF4499; Domain of unknown function (DUF4499)

    7. NM_001270373.2 → NP_001257302.1  transmembrane protein 254 isoform 6

      See identical proteins and their annotated locations for NP_001257302.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) contains an alternate exon in the 3' coding region which introduces an early stop codon, compared to variant 1. Variant 8 encodes an isoform (6) with a shorter C-terminus, compared to isoform 1. Variants 7 and 8 encode the same isoform (6) but their stop codons reside on different exons.
      Source sequence(s)
      AL832397, BC022252, DA573956
      Consensus CDS
      CCDS58087.1
      UniProtKB/Swiss-Prot
      Q8TBM7
      Related
      ENSP00000361349.1, ENST00000372275.5
      Conserved Domains (1) summary
      pfam14934
      Location:26 → 84
      DUF4499; Domain of unknown function (DUF4499)

    8. NM_001270374.2 → NP_001257303.1  transmembrane protein 254 isoform 7

      See identical proteins and their annotated locations for NP_001257303.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) represents the use of an alternate promoter at the 5' end and contains an alternate exon in the 5' coding region, compared to variant 1. Variant 9 encodes an isoform (7) that lacks any sequence similarity to isoform 1 but whose C-terminus is identical to isoform 5.
      Source sequence(s)
      AK310160, AL832397, BC022252, DA880596
      UniProtKB/Swiss-Prot
      Q8TBM7

    9. NM_025125.4 → NP_079401.2  transmembrane protein 254 isoform 1

      See identical proteins and their annotated locations for NP_079401.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the most common transcript and encodes isoform 1.
      Source sequence(s)
      AL832397, BC022252, DA520338
      Consensus CDS
      CCDS7363.1
      UniProtKB/Swiss-Prot
      D3DWC8, Q53HP4, Q5JTC0, Q5JTC1, Q6IA45, Q8TBM7, Q9H8S6
      Related
      ENSP00000361355.3, ENST00000372281.8
      Conserved Domains (1) summary
      pfam14934
      Location:26 → 112
      DUF4499; Domain of unknown function (DUF4499)

    RNA

    1. NR_072984.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK310160, AL832397, BC022252, BP204746

    2. NR_072985.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL832397, BC022252, BP204746, DB485367

    3. NR_072986.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL832397, BC022252, BP204746
      Related
      ENST00000467529.5

    4. NR_072987.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL832397, BC022252, BP204746, DA263618

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      80078665..80092551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425782.1 → XP_047281738.1  transmembrane protein 254 isoform X4

    2. XM_011540192.4 → XP_011538494.1  transmembrane protein 254 isoform X2

      See identical proteins and their annotated locations for XP_011538494.1

      Conserved Domains (1) summary
      pfam14934
      Location:50 → 108
      DUF4499; Domain of unknown function (DUF4499)

    3. XM_006717978.3 → XP_006718041.1  transmembrane protein 254 isoform X1

      Conserved Domains (1) summary
      pfam14934
      Location:39 → 121
      DUF4499; Domain of unknown function (DUF4499)

    4. XM_047425783.1 → XP_047281739.1  transmembrane protein 254 isoform X5

    5. XM_017016680.3 → XP_016872169.1  transmembrane protein 254 isoform X3

    6. XM_011540193.4 → XP_011538495.1  transmembrane protein 254 isoform X5

      See identical proteins and their annotated locations for XP_011538495.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      80947824..80961714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366796.1 → XP_054222771.1  transmembrane protein 254 isoform X2

    2. XM_054366795.1 → XP_054222770.1  transmembrane protein 254 isoform X6

    3. XM_054366799.1 → XP_054222774.1  transmembrane protein 254 isoform X8

    4. XM_054366797.1 → XP_054222772.1  transmembrane protein 254 isoform X7

    5. XM_054366798.1 → XP_054222773.1  transmembrane protein 254 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBM7.1 GenPept UniProtKB/Swiss-Prot:Q8TBM7

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