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

    Gene ID: 51754, updated on 21-Apr-2019

    Summary

    Official Symbol
    TMEM8Bprovided by HGNC
    Official Full Name
    transmembrane protein 8Bprovided by HGNC
    Primary source
    HGNC:HGNC:21427
    See related
    Ensembl:ENSG00000137103 MIM:616888
    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; NAG-5; C9orf127
    Expression
    Ubiquitous expression in brain (RPKM 4.5), ovary (RPKM 3.3) and 23 other tissues See more
    Orthologs

    Genomic context

    See TMEM8B in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (35825817..35865515)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35829222..35854844)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene natriuretic peptide receptor 2 Neighboring gene sperm associated antigen 8 Neighboring gene histidine triad nucleotide binding protein 2 Neighboring gene family with sequence similarity 221 member B Neighboring gene long intergenic non-protein coding RNA 950 Neighboring gene olfactory receptor family 13 subfamily E member 1 pseudogene Neighboring gene olfactory receptor family 13 subfamily J member 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 4

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC120460

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001042589.2NP_001036054.1  transmembrane protein 8B isoform a

      See identical proteins and their annotated locations for NP_001036054.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      AL133410, BC043384
      Consensus CDS
      CCDS43800.1
      UniProtKB/Swiss-Prot
      A6NDV4
      Related
      ENSP00000497766.1, ENST00000650015.1
      Conserved Domains (1) summary
      pfam12036
      Location:245415
      DUF3522; Protein of unknown function (DUF3522)
    2. NM_001042590.3NP_001036055.2  transmembrane protein 8B isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AI392653, AL133410, BC043384, BC082765
      Related
      ENSP00000367227.2, ENST00000377988.6
      Conserved Domains (2) summary
      pfam12036
      Location:697867
      DUF3522; Protein of unknown function (DUF3522)
      cl26464
      Location:34144
      Atrophin-1; Atrophin-1 family
    3. NM_001363620.1NP_001350549.1  transmembrane protein 8B isoform d

      Status: VALIDATED

      Source sequence(s)
      AL133410
      Conserved Domains (2) summary
      pfam12036
      Location:697751
      DUF3522; Protein of unknown function (DUF3522)
      cl26464
      Location:34144
      Atrophin-1; Atrophin-1 family
    4. NM_001363621.1NP_001350550.1  transmembrane protein 8B isoform b

      Status: VALIDATED

      Source sequence(s)
      AL133410
      Conserved Domains (1) summary
      pfam12036
      Location:245299
      DUF3522; Protein of unknown function (DUF3522)
    5. NM_001363622.1NP_001350551.1  transmembrane protein 8B isoform e

      Status: VALIDATED

      Source sequence(s)
      AL133410
      Conserved Domains (1) summary
      pfam12036
      Location:245361
      DUF3522; Protein of unknown function (DUF3522)
    6. NM_001363625.1NP_001350554.1  transmembrane protein 8B isoform f

      Status: VALIDATED

      Source sequence(s)
      AL133410, BC064951
      Conserved Domains (1) summary
      cl26464
      Location:34144
      Atrophin-1; Atrophin-1 family
    7. NM_016446.3NP_057530.2  transmembrane protein 8B isoform b

      See identical proteins and their annotated locations for NP_057530.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF188239, AL133410
      Consensus CDS
      CCDS6595.1
      UniProtKB/Swiss-Prot
      A6NDV4
      Related
      ENSP00000395810.2, ENST00000439587.6
      Conserved Domains (1) summary
      pfam12036
      Location:245299
      DUF3522; Protein of unknown function (DUF3522)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      35825817..35865515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014806.1XP_016870295.1  transmembrane protein 8B isoform X3

      Conserved Domains (1) summary
      pfam12036
      Location:245357
      DUF3522; Protein of unknown function (DUF3522)
    2. XM_011517911.2XP_011516213.1  transmembrane protein 8B isoform X1

      See identical proteins and their annotated locations for XP_011516213.1

      Conserved Domains (1) summary
      pfam12036
      Location:271383
      DUF3522; Protein of unknown function (DUF3522)
    3. XM_024447571.1XP_024303339.1  transmembrane protein 8B isoform X3

      Conserved Domains (1) summary
      pfam12036
      Location:245357
      DUF3522; Protein of unknown function (DUF3522)
    4. XM_011517910.3XP_011516212.1  transmembrane protein 8B isoform X1

      See identical proteins and their annotated locations for XP_011516212.1

      Conserved Domains (1) summary
      pfam12036
      Location:271383
      DUF3522; Protein of unknown function (DUF3522)
    5. XM_011517904.3XP_011516206.1  transmembrane protein 8B isoform X6

      Conserved Domains (2) summary
      pfam12036
      Location:697751
      DUF3522; Protein of unknown function (DUF3522)
      cl26464
      Location:34144
      Atrophin-1; Atrophin-1 family
    6. XM_011517902.2XP_011516204.1  transmembrane protein 8B isoform X2

      Conserved Domains (1) summary
      pfam12036
      Location:271441
      DUF3522; Protein of unknown function (DUF3522)
    7. XM_011517901.2XP_011516203.1  transmembrane protein 8B isoform X1

      See identical proteins and their annotated locations for XP_011516203.1

      Conserved Domains (1) summary
      pfam12036
      Location:271383
      DUF3522; Protein of unknown function (DUF3522)
    8. XM_011517903.2XP_011516205.1  transmembrane protein 8B isoform X4

      Conserved Domains (1) summary
      pfam12036
      Location:271387
      DUF3522; Protein of unknown function (DUF3522)
    9. XM_005251483.4XP_005251540.3  transmembrane protein 8B isoform X3

      See identical proteins and their annotated locations for XP_005251540.3

      Conserved Domains (1) summary
      pfam12036
      Location:245357
      DUF3522; Protein of unknown function (DUF3522)
    10. XM_024447570.1XP_024303338.1  transmembrane protein 8B isoform X5

      Conserved Domains (1) summary
      pfam12036
      Location:245361
      DUF3522; Protein of unknown function (DUF3522)
    11. XM_024447572.1XP_024303340.1  transmembrane protein 8B isoform X5

      Conserved Domains (1) summary
      pfam12036
      Location:245361
      DUF3522; Protein of unknown function (DUF3522)
    12. XM_011517905.1XP_011516207.1  transmembrane protein 8B isoform X7

    13. XM_011517915.2XP_011516217.1  transmembrane protein 8B isoform X3

      See identical proteins and their annotated locations for XP_011516217.1

      Conserved Domains (1) summary
      pfam12036
      Location:245357
      DUF3522; Protein of unknown function (DUF3522)
    14. XM_011517912.2XP_011516214.1  transmembrane protein 8B isoform X1

      See identical proteins and their annotated locations for XP_011516214.1

      Conserved Domains (1) summary
      pfam12036
      Location:271383
      DUF3522; Protein of unknown function (DUF3522)
    15. XM_011517908.2XP_011516210.1  transmembrane protein 8B isoform X1

      See identical proteins and their annotated locations for XP_011516210.1

      Conserved Domains (1) summary
      pfam12036
      Location:271383
      DUF3522; Protein of unknown function (DUF3522)
    16. XM_011517913.2XP_011516215.1  transmembrane protein 8B isoform X1

      See identical proteins and their annotated locations for XP_011516215.1

      Conserved Domains (1) summary
      pfam12036
      Location:271383
      DUF3522; Protein of unknown function (DUF3522)
    17. XM_011517914.2XP_011516216.1  transmembrane protein 8B isoform X1

      See identical proteins and their annotated locations for XP_011516216.1

      Conserved Domains (1) summary
      pfam12036
      Location:271383
      DUF3522; Protein of unknown function (DUF3522)
    18. XM_017014805.1XP_016870294.1  transmembrane protein 8B isoform X8

      Conserved Domains (1) summary
      pfam12036
      Location:438550
      DUF3522; Protein of unknown function (DUF3522)
    19. XM_017014807.1XP_016870296.1  transmembrane protein 8B isoform X10

    20. XM_011517916.2XP_011516218.1  transmembrane protein 8B isoform X9

      Conserved Domains (1) summary
      pfam12036
      Location:213325
      DUF3522; Protein of unknown function (DUF3522)
    21. XM_011517918.3XP_011516220.1  transmembrane protein 8B isoform X11

      Conserved Domains (1) summary
      pfam12036
      Location:161273
      DUF3522; Protein of unknown function (DUF3522)

    RNA

    1. XR_001746322.1 RNA Sequence

    2. XR_002956793.1 RNA Sequence

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