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TMEM254 transmembrane protein 254 [ Homo sapiens (human) ]

Gene ID: 80195, updated on 7-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 17.6), prostate (RPKM 13.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80078665..80092551)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (80947824..80961714)
105.20220307 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
  • 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 (14) 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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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_2023_10

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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