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TMEM102 transmembrane protein 102 [ Homo sapiens (human) ]

Gene ID: 284114, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in colon (RPKM 3.0), adrenal (RPKM 2.7) and 24 other tissues See more
Orthologs
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Genomic context

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See TMEM102 in Genome Data Viewer
Location:
17p13.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7435435..7437679)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7339490..7341734)
RS_2024_09 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 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 regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling. Liao WT, et al. J Biol Chem, 2023 Dec. PMID 37949232, Free PMC Article
  3. 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
  4. 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
  5. 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

See all (20) 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 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_2024_08

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.

Chemical Information
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