TMEM102 transmembrane protein 102 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
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.
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.

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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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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)

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
NM_178518.3 → NP_848613.1 transmembrane protein 102

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