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    TMEM8B transmembrane protein 8B [ Homo sapiens (human) ]

    Gene ID: 51754, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM8Bprovided by HGNC
    Official Full Name
    transmembrane protein 8Bprovided by HGNC
    Primary source
    HGNC:HGNC:21427
    See related
    Ensembl:ENSG00000137103 MIM:616888; AllianceGenome:HGNC:21427
    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
    NAG5; NGX6; FP588; NAG-5; NGX6a; C9orf127; LINC00950
    Summary
    Involved in cell-matrix adhesion. Located in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 4.5), ovary (RPKM 3.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM8B in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35829228..35865515)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35849899..35886190)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35829225..35865512)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19882 Neighboring gene histidine triad nucleotide binding protein 2 Neighboring gene family with sequence similarity 221 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35829817-35830317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35835675-35836588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28340 Neighboring gene Sharpr-MPRA regulatory region 825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35846373-35847248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28343 Neighboring gene olfactory receptor family 13 subfamily E member 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35865013-35865512 Neighboring gene olfactory receptor family 13 subfamily J member 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 4

    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. NGX6 expression improves the sensitivity of tamoxifen-resistant MCF-7 cells through modulation of the Smad signaling pathway. Zhao WJ, et al. Int J Oncol, 2013 Jun. PMID 23588848
    2. The expression of ezrin in NPC and its interaction with NGX6, a novel candidate suppressor. Peng S, et al. Cancer Sci, 2007 Mar. PMID 17270023, Free PMC Article
    3. The role of NGX6 and its deletion mutants in the proliferation, adhesion and migration of nasopharyngeal carcinoma 5-8F cells. Peng SP, et al. Oncology, 2006. PMID 17641538
    4. Identification of a new seven-span transmembrane protein: NGX6a is downregulated in nasopharyngeal carcinoma and is associated with tumor metastasis. Wang L, et al. J Histochem Cytochem, 2010 Jan. PMID 19755717, Free PMC Article
    5. NGX6 gene mediated by promoter methylation as a potential molecular marker in colorectal cancer. Liu M, et al. BMC Cancer, 2010 Apr 27. PMID 20423473, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nasopharyngeal carcinomaassociated gene 6 inhibits cell viability, migration, invasion and induces apoptosis in osteosarcoma cells by inactivating the Wnt/betacatenin signaling pathway.
      Title: Nasopharyngeal carcinoma‑associated gene 6 inhibits cell viability, migration, invasion and induces apoptosis in osteosarcoma cells by inactivating the Wnt/β‑catenin signaling pathway.
    2. NGX6 is lowly expressed in nasopharyngeal carcinoma, and it can inhibit the proliferation and invasion of nasopharyngeal carcinoma cells.
      Title: Effects of NGX6 expression on proliferation and invasion of nasopharyngeal carcinoma cells and survival of patients.
    3. NGX6 possesses various biological functions, such as regulating protein expression of related genes, involving cell signal transduction pathways, negatively controlling cell cycle progression, inhibiting angiogenesis, and increasing the sensitivity of patients to anti-cancer drugs. Review.
      Title: Tumor suppressor NGX6 inhibits the growth and metastasis of multiple cancers.
    4. Ultrasonographic features are associated with NGX6 expression in invasive ductal breast carcinoma. NGX6 is involved in the invasion and metastasis activity of IDBC.
      Title: Association of ultrasonographic features with NGX6 expression and prognosis in invasive ductal breast carcinoma.
    5. From our analysis, variants in the genes ABCB4, TP53AIP1, ARHGAP32 and TMEM88B were identified linked to the alexithymia phenotype.
      Title: Analysis of functional variants reveals new candidate genes associated with alexithymia.
    6. The seven-transmembrane domain of NGX6a was found to be the critical region for the degradation of NGX6a, and the amino terminus of ezrin is required for the induction of NGX6a degradation.
      Title: NGX6a is degraded through a proteasome-dependent pathway without ubiquitination mediated by ezrin, a cytoskeleton-membrane linker.
    7. These results demonstrate that Egr-1 regulates NGX6 gene transcription through an overlapping Sp1/Egr-1 binding site as a positive regulator of NGX6 gene.
      Title: Egr-1 regulates the transcription of NGX6 gene through a Sp1/Egr-1 overlapping site in the promoter.
    8. downregulation of NGX6 expression contributes to the development and progression of gastric cancer
      Title: DNA promoter and histone H3 methylation downregulate NGX6 in gastric cancer cells.
    9. the levels of the NGX6 protein and mRNA were lower in patients with tamoxifen-resistant tumors compared to patients with tamoxifen-sensitive tumors
      Title: NGX6 expression improves the sensitivity of tamoxifen-resistant MCF-7 cells through modulation of the Smad signaling pathway.
    10. The present study was aimed to investigate the possible association between 19-base pair (bp) deletion polymorphism of the DHFR gene (rs70991108), null genotype of UGT2B17 as well as the expression level of NGX6 with the risk of breast cancer.
      Title: Evaluation of UDP-glucuronosyltransferase 2B17 (UGT2B17) and dihydrofolate reductase (DHFR) genes deletion and the expression level of NGX6 mRNA in breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    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

    • FLJ30363, FLJ30741, MGC120460, DKFZp547N0218

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 8B
    Names
    nasopharyngeal carcinoma expressed 6
    nasopharyngeal carcinoma related protein
    nasopharyngeal carcinoma-associated gene 6 protein

    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_001042589.3 → NP_001036054.1  transmembrane protein 8B isoform a

      See identical proteins and their annotated locations for NP_001036054.1

      Status: VALIDATED

      Source sequence(s)
      AL133410, BC043384
      Consensus CDS
      CCDS43800.1
      UniProtKB/Swiss-Prot
      A6NDV4, B3KQF3, O75539, Q49AB1, Q4KMX5, Q5TCW5, Q9HBY2, Q9P0U7
      Related
      ENSP00000367230.4, ENST00000377991.9
      Conserved Domains (1) summary
      pfam12036
      Location:245 → 415
      DUF3522; Protein of unknown function (DUF3522)

    2. NM_001042590.4 → NP_001036055.2  transmembrane protein 8B isoform c

      Status: VALIDATED

      Source sequence(s)
      AL133410
      Consensus CDS
      CCDS94406.1
      UniProtKB/TrEMBL
      A0A2R8Y2M5
      Related
      ENSP00000493496.1, ENST00000643932.2
      Conserved Domains (2) summary
      pfam12036
      Location:697 → 867
      DUF3522; Protein of unknown function (DUF3522)
      cl26464
      Location:34 → 144
      Atrophin-1; Atrophin-1 family

    3. NM_001363620.1 → NP_001350549.1  transmembrane protein 8B isoform d

      Status: VALIDATED

      Source sequence(s)
      AL133410
      Conserved Domains (2) summary
      pfam12036
      Location:697 → 751
      DUF3522; Protein of unknown function (DUF3522)
      cl26464
      Location:34 → 144
      Atrophin-1; Atrophin-1 family

    4. NM_001363621.1 → NP_001350550.1  transmembrane protein 8B isoform b

      Status: VALIDATED

      Source sequence(s)
      AL133410
      Consensus CDS
      CCDS6595.1
      Related
      ENSP00000367235.1, ENST00000377996.5
      Conserved Domains (1) summary
      pfam12036
      Location:245 → 299
      DUF3522; Protein of unknown function (DUF3522)

    5. NM_001363622.1 → NP_001350551.1  transmembrane protein 8B isoform e

      Status: VALIDATED

      Source sequence(s)
      AL133410
      Conserved Domains (1) summary
      pfam12036
      Location:245 → 361
      DUF3522; Protein of unknown function (DUF3522)

    6. NM_001363625.1 → NP_001350554.1  transmembrane protein 8B isoform f

      Status: VALIDATED

      Source sequence(s)
      AL133410, BC064951
      Conserved Domains (1) summary
      cl26464
      Location:34 → 144
      Atrophin-1; Atrophin-1 family

    7. NM_016446.4 → NP_057530.2  transmembrane protein 8B isoform b

      See identical proteins and their annotated locations for NP_057530.2

      Status: VALIDATED

      Source sequence(s)
      AF188239, AL133410
      Consensus CDS
      CCDS6595.1
      UniProtKB/Swiss-Prot
      A6NDV4
      Related
      ENSP00000395810.2, ENST00000439587.6
      Conserved Domains (1) summary
      pfam12036
      Location:245 → 299
      DUF3522; Protein of unknown function (DUF3522)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35829228..35865515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517902.3 → XP_011516204.2  transmembrane protein 8B isoform X2

    2. XM_047423472.1 → XP_047279428.1  transmembrane protein 8B isoform X15

      UniProtKB/Swiss-Prot
      A6NDV4, B3KQF3, O75539, Q49AB1, Q4KMX5, Q5TCW5, Q9HBY2, Q9P0U7

    3. XM_011517901.3 → XP_011516203.2  transmembrane protein 8B isoform X1

    4. XM_011517903.3 → XP_011516205.2  transmembrane protein 8B isoform X4

    5. XM_005251483.5 → XP_005251540.4  transmembrane protein 8B isoform X3

    6. XM_024447570.2 → XP_024303338.2  transmembrane protein 8B isoform X5

    7. XM_047423467.1 → XP_047279423.1  transmembrane protein 8B isoform X8

    8. XM_047423468.1 → XP_047279424.1  transmembrane protein 8B isoform X11

    9. XM_011517912.3 → XP_011516214.1  transmembrane protein 8B isoform X10

      See identical proteins and their annotated locations for XP_011516214.1

      Conserved Domains (1) summary
      pfam12036
      Location:271 → 383
      DUF3522; Protein of unknown function (DUF3522)

    10. XM_011517910.4 → XP_011516212.1  transmembrane protein 8B isoform X10

      See identical proteins and their annotated locations for XP_011516212.1

      Conserved Domains (1) summary
      pfam12036
      Location:271 → 383
      DUF3522; Protein of unknown function (DUF3522)

    11. XM_047423466.1 → XP_047279422.1  transmembrane protein 8B isoform X7

    12. XM_011517905.2 → XP_011516207.2  transmembrane protein 8B isoform X6

    13. XM_047423470.1 → XP_047279426.1  transmembrane protein 8B isoform X13

    14. XM_047423469.1 → XP_047279425.1  transmembrane protein 8B isoform X12

    15. XM_011517913.3 → XP_011516215.1  transmembrane protein 8B isoform X10

      See identical proteins and their annotated locations for XP_011516215.1

      Conserved Domains (1) summary
      pfam12036
      Location:271 → 383
      DUF3522; Protein of unknown function (DUF3522)

    16. XM_011517914.3 → XP_011516216.1  transmembrane protein 8B isoform X10

      See identical proteins and their annotated locations for XP_011516216.1

      Conserved Domains (1) summary
      pfam12036
      Location:271 → 383
      DUF3522; Protein of unknown function (DUF3522)

    17. XM_047423471.1 → XP_047279427.1  transmembrane protein 8B isoform X14

    18. XM_017014805.2 → XP_016870294.1  transmembrane protein 8B isoform X9

      Conserved Domains (1) summary
      pfam12036
      Location:438 → 550
      DUF3522; Protein of unknown function (DUF3522)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35849899..35886190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363088.1 → XP_054219063.1  transmembrane protein 8B isoform X2

    2. XM_054363105.1 → XP_054219080.1  transmembrane protein 8B isoform X15

      UniProtKB/Swiss-Prot
      A6NDV4, B3KQF3, O75539, Q49AB1, Q4KMX5, Q5TCW5, Q9HBY2, Q9P0U7

    3. XM_054363107.1 → XP_054219082.1  transmembrane protein 8B isoform X15

      UniProtKB/Swiss-Prot
      A6NDV4, B3KQF3, O75539, Q49AB1, Q4KMX5, Q5TCW5, Q9HBY2, Q9P0U7

    4. XM_054363090.1 → XP_054219065.1  transmembrane protein 8B isoform X4

    5. XM_054363091.1 → XP_054219066.1  transmembrane protein 8B isoform X5

    6. XM_054363098.1 → XP_054219073.1  transmembrane protein 8B isoform X11

    7. XM_054363087.1 → XP_054219062.1  transmembrane protein 8B isoform X1

    8. XM_054363089.1 → XP_054219064.1  transmembrane protein 8B isoform X3

    9. XM_054363094.1 → XP_054219069.1  transmembrane protein 8B isoform X8

    10. XM_054363097.1 → XP_054219072.1  transmembrane protein 8B isoform X10

    11. XM_054363096.1 → XP_054219071.1  transmembrane protein 8B isoform X10

    12. XM_054363101.1 → XP_054219076.1  transmembrane protein 8B isoform X10

    13. XM_054363102.1 → XP_054219077.1  transmembrane protein 8B isoform X10

    14. XM_054363093.1 → XP_054219068.1  transmembrane protein 8B isoform X7

    15. XM_054363092.1 → XP_054219067.1  transmembrane protein 8B isoform X6

    16. XM_054363100.1 → XP_054219075.1  transmembrane protein 8B isoform X13

    17. XM_054363099.1 → XP_054219074.1  transmembrane protein 8B isoform X12

    18. XM_054363103.1 → XP_054219078.1  transmembrane protein 8B isoform X10

    19. XM_054363106.1 → XP_054219081.1  transmembrane protein 8B isoform X10

    20. XM_054363104.1 → XP_054219079.1  transmembrane protein 8B isoform X14

    21. XM_054363095.1 → XP_054219070.1  transmembrane protein 8B isoform X9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_024006.1: Suppressed sequence

      Description
      NR_024006.1: This RefSeq was removed because the gene was discontinued.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NDV4.2 GenPept UniProtKB/Swiss-Prot:A6NDV4

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