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    TMED8 transmembrane p24 trafficking protein family member 8 [ Homo sapiens (human) ]

    Gene ID: 283578, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMED8provided by HGNC
    Official Full Name
    transmembrane p24 trafficking protein family member 8provided by HGNC
    Primary source
    HGNC:HGNC:18633
    See related
    Ensembl:ENSG00000100580 AllianceGenome:HGNC:18633
    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
    FAM15B
    Expression
    Ubiquitous expression in lymph node (RPKM 7.4), thyroid (RPKM 5.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMED8 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77335021..77377094, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71544384..71586469, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77801364..77843437, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein O-mannosyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77769341-77769842 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77769843-77770342 Neighboring gene Sharpr-MPRA regulatory region 2495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77787600-77788461 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:77795945-77797144 Neighboring gene glutathione S-transferase zeta 1 Neighboring gene ATP binding cassette subfamily G member 2 (JR blood group) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8800 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:77846838-77847018 Neighboring gene sterile alpha motif domain containing 15 Neighboring gene HNF1 motif-containing MPRA enhancer 277 Neighboring gene NADP dependent oxidoreductase domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. NEDD4L-mediated LTF protein degradation limits ferroptosis. Wang Y, et al. Biochem Biophys Res Commun, 2020 Oct 22. PMID 32811647
    2. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. Petroziello J, et al. Oncogene, 2004 Oct 7. PMID 15334068
    3. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
    4. Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. Adhikari H, et al. Nat Commun, 2018 Sep 7. PMID 30194290, Free PMC Article
    5. FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane. Ceccarelli DF, et al. Structure, 2019 Jun 4. PMID 31056421, Free PMC Article

    See all (24) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126559

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein TMED8
    Names
    family with sequence similarity 15, member B
    transmembrane emp24 domain containing 8
    transmembrane emp24 protein transport domain containing 8

    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_001346131.2 → NP_001333060.1  protein TMED8 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC007954

    2. NM_001346133.2 → NP_001333062.1  protein TMED8 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate splice junctions compared to variant 1. The resulting isoform (c) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AC007954
      UniProtKB/Swiss-Prot
      Q6PL24
      Conserved Domains (1) summary
      pfam13897
      Location:117 → 256
      GOLD_2; Golgi-dynamics membrane-trafficking

    3. NM_001346134.1 → NP_001333063.1  protein TMED8 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (c) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AC007954
      UniProtKB/Swiss-Prot
      Q6PL24
      Conserved Domains (1) summary
      pfam13897
      Location:117 → 256
      GOLD_2; Golgi-dynamics membrane-trafficking

    4. NM_213601.3 → NP_998766.1  protein TMED8 isoform b

      See identical proteins and their annotated locations for NP_998766.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC007954, BC101510
      Consensus CDS
      CCDS32125.1
      UniProtKB/Swiss-Prot
      B3KTI6, Q3MJB0, Q6PL24, Q9P1V9
      Related
      ENSP00000216468.7, ENST00000216468.8
      Conserved Domains (1) summary
      pfam13897
      Location:185 → 324
      GOLD_2; Golgi-dynamics membrane-trafficking

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      77335021..77377094 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021224.2 → XP_016876713.1  protein TMED8 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      71544384..71586469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375884.1 → XP_054231859.1  protein TMED8 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PL24.1 GenPept UniProtKB/Swiss-Prot:Q6PL24

    Gene LinkOut

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