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    TMEM9B TMEM9 domain family member B [ Homo sapiens (human) ]

    Gene ID: 56674, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM9Bprovided by HGNC
    Official Full Name
    TMEM9 domain family member Bprovided by HGNC
    Primary source
    HGNC:HGNC:1168
    See related
    Ensembl:ENSG00000175348 MIM:620293; AllianceGenome:HGNC:1168
    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
    C11orf15
    Summary
    Involved in positive regulation of canonical NF-kappaB signal transduction. Located in early endosome membrane and lysosomal membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 35.7), colon (RPKM 33.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM9B in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (8947202..8964947, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (9031385..9049147, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (8968749..8986494, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8946857-8947641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8947642-8948425 Neighboring gene A-kinase interacting protein 1 Neighboring gene chromosome 11 open reading frame 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:8954113-8954951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4397 Neighboring gene achaete-scute family bHLH transcription factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3118 Neighboring gene TMEM9B antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:9000257-9001066 Neighboring gene nuclear receptor interacting protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:9024725-9025644 Neighboring gene NRIP3 divergent transcript Neighboring gene signal peptide, CUB domain and EGF like domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:9068585-9069086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:9087649-9088150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:9088151-9088650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4400 Neighboring gene microRNA 5691

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. transmembrane protein 9B was identified as a putative antigenic target in Wegener's granulomatosis
      Title: Wegener's granuloma harbors B lymphocytes with specificities against a proinflammatory transmembrane protein and a tetraspanin.
    Submit: New GeneRIF Correction

    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

    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 positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    Component Evidence Code Pubs
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 9B

    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_001286094.2 → NP_001273023.1  transmembrane protein 9B isoform b

      See identical proteins and their annotated locations for NP_001273023.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Both variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AA433929, AI346520, BC015884, DA563443
      Consensus CDS
      CCDS66021.1
      UniProtKB/TrEMBL
      B7Z6P5
      Related
      ENSP00000311842.5, ENST00000309134.9
      Conserved Domains (1) summary
      pfam05434
      Location:1 → 123
      Tmemb_9; TMEM9

    2. NM_001286095.2 → NP_001273024.1  transmembrane protein 9B isoform b

      See identical proteins and their annotated locations for NP_001273024.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Both variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AA433929, AI346520, AK300712, AY359069, DC314550
      Consensus CDS
      CCDS66021.1
      UniProtKB/TrEMBL
      B7Z6P5
      Related
      ENSP00000431487.1, ENST00000525069.5
      Conserved Domains (1) summary
      pfam05434
      Location:1 → 123
      Tmemb_9; TMEM9

    3. NM_020644.3 → NP_065695.1  transmembrane protein 9B isoform a precursor

      See identical proteins and their annotated locations for NP_065695.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AA433929, AI346520, AY359069, DA563443
      Consensus CDS
      CCDS7796.1
      UniProtKB/Swiss-Prot
      Q7Z649, Q9NQ34
      UniProtKB/TrEMBL
      Q543A1
      Related
      ENSP00000433361.1, ENST00000534025.6
      Conserved Domains (1) summary
      pfam05434
      Location:57 → 197
      Tmemb_9; TMEM9

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      8947202..8964947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      9031385..9049147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ34.1 GenPept UniProtKB/Swiss-Prot:Q9NQ34

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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