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

    Gene ID: 283578, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See TMED8 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77335021..77377094, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71544384..71586469, complement)
    105.20220307 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 (Junior 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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001346131.2NP_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_001346133.2NP_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:117256
      GOLD_2; Golgi-dynamics membrane-trafficking
    3. NM_001346134.1NP_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:117256
      GOLD_2; Golgi-dynamics membrane-trafficking
    4. NM_213601.3NP_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:185324
      GOLD_2; Golgi-dynamics membrane-trafficking

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

    mRNA and Protein(s)

    1. XM_017021224.2XP_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_054375884.1XP_054231859.1  protein TMED8 isoform X1