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

Gene ID: 283578, updated on 5-Mar-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
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Genomic context

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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

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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. 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 (19) 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)

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

  • 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_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_017021224.2 → 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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