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

Gene ID: 56674, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 35.7), colon (RPKM 33.6) and 25 other tissues See more
Orthologs
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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 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. Wegener's granuloma harbors B lymphocytes with specificities against a proinflammatory transmembrane protein and a tetraspanin. Thurner L, et al. J Autoimmun, 2011 Feb. PMID 20951001
  2. The lysosomal transmembrane protein 9B regulates the activity of inflammatory signaling pathways. Dodeller F, et al. J Biol Chem, 2008 Aug 1. PMID 18541524
  3. Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7. Amid C, et al. Cytogenet Cell Genet, 2001. PMID 11528127
  4. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. Matsuda A, et al. Oncogene, 2003 May 22. PMID 12761501
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. Zhang Z, et al. Protein Sci, 2004 Oct. PMID 15340161, Free PMC Article

See all (20) citations in PubMed

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)

Genotypes

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

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