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

Gene ID: 51754, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 4.5), ovary (RPKM 3.3) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
9p13.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35829228..35865515)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35849899..35886190)
105.20220307 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. Nasopharyngeal carcinoma‑associated gene 6 inhibits cell viability, migration, invasion and induces apoptosis in osteosarcoma cells by inactivating the Wnt/β‑catenin signaling pathway. Liu L, et al. Mol Med Rep, 2021 Feb. PMID 33300077
  2. Effects of NGX6 expression on proliferation and invasion of nasopharyngeal carcinoma cells and survival of patients. Wang YT, et al. Eur Rev Med Pharmacol Sci, 2017 Dec. PMID 29243779
  3. Tumor suppressor NGX6 inhibits the growth and metastasis of multiple cancers. He S, et al. Tumour Biol, 2016 May. PMID 26880583
  4. Association of ultrasonographic features with NGX6 expression and prognosis in invasive ductal breast carcinoma. Xiao J, et al. Int J Clin Exp Pathol, 2015. PMID 26261522, Free PMC Article
  5. DNA promoter and histone H3 methylation downregulate NGX6 in gastric cancer cells. Liu J, et al. Med Oncol, 2014 Jan. PMID 24338274

See all (37) 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)

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

  • 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_2023_10

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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