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    TMEM102 transmembrane protein 102 [ Homo sapiens (human) ]

    Gene ID: 284114, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM102provided by HGNC
    Official Full Name
    transmembrane protein 102provided by HGNC
    Primary source
    HGNC:HGNC:26722
    See related
    Ensembl:ENSG00000181284 MIM:613936; AllianceGenome:HGNC:26722
    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
    D2B; CBAP
    Summary
    Involved in regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; response to cytokine; and signal transduction. Acts upstream of or within positive regulation of T cell migration and positive regulation of cell adhesion. Located in cell surface. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon (RPKM 3.0), adrenal (RPKM 2.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7435435..7437679)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7339490..7341734)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7338754..7340998)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7329870-7330371 Neighboring gene SPEM family member 2 Neighboring gene SPEM family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11619 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7339659-7340568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7341479-7342387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7342641-7343174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8120 Neighboring gene fibroblast growth factor 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8121 Neighboring gene cholinergic receptor nicotinic beta 1 subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7359010-7359511

    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. CBAP modulates Akt-dependent TSC2 phosphorylation to promote Rheb-mTORC1 signaling and growth of T-cell acute lymphoblastic leukemia. Chiang YJ, et al. Oncogene, 2019 Feb. PMID 30266989, Free PMC Article
    2. CBAP interacts with the un-liganded common beta-subunit of the GM-CSF/IL-3/IL-5 receptor and induces apoptosis via mitochondrial dysfunction. Kao CJ, et al. Oncogene, 2008 Feb 28. PMID 17828305
    3. Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome. Westlake CJ, et al. Proc Natl Acad Sci U S A, 2011 Feb 15. PMID 21273506, Free PMC Article
    4. CBAP functions as a novel component in chemokine-induced ZAP70-mediated T-cell adhesion and migration. Chiang YJ, et al. PLoS One, 2013. PMID 23620790, Free PMC Article
    5. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. Jin J, et al. Curr Biol, 2004 Aug 24. PMID 15324660

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling.
      Title: CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling.
    2. our findings reveal a novel oncogenic contribution of CBAP in T-ALL leukemic cells, in addition to its original pro-apoptotic function in cytokine-dependent cell lines and primary hematopoietic cells, by demonstrating its functional role in the regulation of Akt-TSC2-mTORC1 signaling for leukemia cell proliferation. Thus, CBAP represents a novel therapeutic target for many types of cancers and metabolic diseases
      Title: CBAP modulates Akt-dependent TSC2 phosphorylation to promote Rheb-mTORC1 signaling and growth of T-cell acute lymphoblastic leukemia.
    3. CBAP indeed can function as a novel signaling component within the ZAP70/Vav1/talin complex and plays an important role in regulating chemokine-promoted T-cell trafficking.
      Title: CBAP functions as a novel component in chemokine-induced ZAP70-mediated T-cell adhesion and migration.
    4. Modulates granulocyte-macrophage colony-stimulating factor-deprivation-induced apoptosis possibly via a novel mechanism involving interaction with an unliganded cytokine receptor common beta subunit molecule.
      Title: CBAP interacts with the un-liganded common beta-subunit of the GM-CSF/IL-3/IL-5 receptor and induces apoptosis via mitochondrial dysfunction.
    5. CBAP (Common receptor Beta chain Associating Protein) is a putative transmembrane protein which associates preferentially with unliganded GM-CSFR beta chain. It functions as a pro-apoptotic protein and is widely expressed in various cell types.
      Title: CBAP interacts with the un-liganded common beta-subunit of the GM-CSF/IL-3/IL-5 receptor and induces apoptosis via mitochondrial dysfunction.
    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

    Clone Names

    • FLJ36878

    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 apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of T cell chemotaxis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of T cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cytokine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 102
    Names
    DANGER family member 2B
    common beta-chain associated 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_001320444.1 → NP_001307373.1  transmembrane protein 102

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC113189
      Consensus CDS
      CCDS11104.1
      UniProtKB/Swiss-Prot
      D3DTP8, Q8N9M5
      Related
      ENSP00000379815.1, ENST00000396568.1
      Conserved Domains (1) summary
      pfam03281
      Location:317 → 455
      Mab-21; Mab-21 protein

    2. NM_178518.3 → NP_848613.1  transmembrane protein 102

      See identical proteins and their annotated locations for NP_848613.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC113189, BC046189
      Consensus CDS
      CCDS11104.1
      UniProtKB/Swiss-Prot
      D3DTP8, Q8N9M5
      Related
      ENSP00000315387.1, ENST00000323206.2
      Conserved Domains (1) summary
      pfam03281
      Location:317 → 455
      Mab-21; Mab-21 protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7435435..7437679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107299.1 Reference GRCh38.p14 PATCHES

      Range
      55892..58136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7339490..7341734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9M5.1 GenPept UniProtKB/Swiss-Prot:Q8N9M5

    Gene LinkOut

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

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