TMEM102

Summary

TMEM102 (transmembrane protein 102, HGNC:26722) is a protein-coding gene on chromosome 17p13.1, encoding Transmembrane protein 102 (Q8N9M5). Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway.

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.

Source: NCBI Gene 284114 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 83 total
• MANE Select transcript: NM_178518

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26722
Approved symbol	TMEM102
Name	transmembrane protein 102
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36878, CBAP, D2B
Ensembl gene	ENSG00000181284
Ensembl biotype	protein_coding
OMIM	613936
Entrez	284114

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000323206, ENST00000396568, ENST00000860243, ENST00000917260

RefSeq mRNA: 2 — MANE Select: NM_178518 NM_001320444, NM_178518

CCDS: CCDS11104

Canonical transcript exons

ENST00000323206 — 3 exons

Exon	Start	End
ENSE00001264743	7436194	7437679
ENSE00001264752	7435853	7436085
ENSE00001333076	7435435	7435696

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 85.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2573 / max 37.6872, expressed in 1330 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159191	4.1391	1324
208049	0.1182	60

Top tissues by expression

132 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	85.20	gold quality
granulocyte	CL:0000094	83.68	gold quality
leukocyte	CL:0000738	79.12	gold quality
monocyte	CL:0000576	78.71	gold quality
esophagus mucosa	UBERON:0002469	78.22	gold quality
left adrenal gland cortex	UBERON:0035825	77.67	gold quality
blood	UBERON:0000178	77.61	gold quality
lower esophagus mucosa	UBERON:0035834	77.37	gold quality
right adrenal gland	UBERON:0001233	77.28	gold quality
left adrenal gland	UBERON:0001234	76.55	gold quality
right adrenal gland cortex	UBERON:0035827	76.31	gold quality
skin of leg	UBERON:0001511	76.01	gold quality
skin of abdomen	UBERON:0001416	75.76	gold quality
zone of skin	UBERON:0000014	75.74	gold quality
adrenal gland	UBERON:0002369	74.87	gold quality
duodenum	UBERON:0002114	74.22	gold quality
spleen	UBERON:0002106	73.18	gold quality
lymph node	UBERON:0000029	73.09	gold quality
transverse colon	UBERON:0001157	73.05	gold quality
apex of heart	UBERON:0002098	72.56	gold quality
minor salivary gland	UBERON:0001830	72.55	gold quality
saliva-secreting gland	UBERON:0001044	72.36	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	72.33	gold quality
islet of Langerhans	UBERON:0000006	72.07	gold quality
adult mammalian kidney	UBERON:0000082	71.99	gold quality
right coronary artery	UBERON:0001625	71.55	gold quality
metanephros cortex	UBERON:0010533	71.30	gold quality
placenta	UBERON:0001987	71.07	gold quality
pancreas	UBERON:0001264	71.00	gold quality
body of pancreas	UBERON:0001150	70.65	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

2 targeting TMEM102, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6509-3P	98.32	67.33	1343
HSA-MIR-585-3P	91.80	66.07	57

Literature-anchored findings (GeneRIF, showing 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. (PMID:17828305)
• 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. (PMID:17828305)
• 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. (PMID:23620790)
• 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 (PMID:30266989)
• CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling. (PMID:37949232)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem102	ENSDARG00000087162
mus_musculus	Tmem102	ENSMUSG00000089876
rattus_norvegicus	Tmem102	ENSRNOG00000015057
drosophila_melanogaster	CG15865	FBGN0015336

Paralogs (9): ITPRIP (ENSG00000148841), CGAS (ENSG00000164430), MAB21L4 (ENSG00000172478), MAB21L3 (ENSG00000173212), MB21D2 (ENSG00000180611), MAB21L1 (ENSG00000180660), MAB21L2 (ENSG00000181541), ITPRIPL1 (ENSG00000198885), ITPRIPL2 (ENSG00000205730)

Protein

Protein identifiers

Transmembrane protein 102 — Q8N9M5 (reviewed: Q8N9M5)

Alternative names: Common beta-chain associated protein

All UniProt accessions (1): Q8N9M5

UniProt curated annotations — full annotation on UniProt →

Function. Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway.

Subunit / interactions. Interacts with CSF2RB; this interaction occurs preferentially in the absence of CSF2.

Subcellular location. Cell membrane.

RefSeq proteins (2): NP_001307373, NP_848613* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024810	MAB21L/cGLR	Family

UniProt features (7 total): topological domain 2, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9M5-F1	75.32	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): GOBP_REGULATION_OF_T_CELL_CHEMOTAXIS, GOBP_CELL_CHEMOTAXIS, GOBP_RESPONSE_TO_PEPTIDE, GOBP_POSITIVE_REGULATION_OF_LYMPHOCYTE_MIGRATION, GOCC_CELL_SURFACE, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_TAXIS, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, GOBP_LEUKOCYTE_MIGRATION, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION

GO Biological Process (7): apoptotic process (GO:0006915), signal transduction (GO:0007165), positive regulation of T cell chemotaxis (GO:0010820), response to cytokine (GO:0034097), positive regulation of cell adhesion (GO:0045785), regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028), positive regulation of T cell migration (GO:2000406)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): mitochondrion (GO:0005739), plasma membrane (GO:0005886), cell surface (GO:0009986), protein-containing complex (GO:0032991), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
T cell chemotaxis	1
regulation of T cell chemotaxis	1
positive regulation of lymphocyte chemotaxis	1
positive regulation of T cell migration	1
response to peptide	1
cell adhesion	1
regulation of cell adhesion	1
positive regulation of cellular process	1
regulation of mitochondrion organization	1
regulation of mitochondrial membrane permeability	1
regulation of transport	1
mitochondrial outer membrane permeabilization	1
T cell migration	1
positive regulation of lymphocyte migration	1
regulation of T cell migration	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
cellular_component	1

Protein interactions and networks

STRING

472 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM102	ITPRIPL1	Q6GPH6	486
TMEM102	IL3	P08700	454
TMEM102	GIMAP8	Q8ND71	434
TMEM102	CSF2	P04141	400
TMEM102	SDR39U1	Q9NRG7	392
TMEM102	METTL25B	Q96FB5	370
TMEM102	ZNF524	Q96C55	367
TMEM102	ZNF613	Q6PF04	364
TMEM102	HEATR4	Q86WZ0	355
TMEM102	MAB21L4	Q08AI8	353
TMEM102	C6orf136	Q5SQH8	348
TMEM102	ITPRIPL2	Q3MIP1	347
TMEM102	TENT5D	Q8NEK8	329
TMEM102	TENT5B	Q96A09	325
TMEM102	MAB21L3	Q8N8X9	324

IntAct

39 interactions, top by confidence:

A	B	Type	Score
RAB3IP	TRAPPC3	psi-mi:“MI:0914”(association)	0.700
YWHAG	TMEM102	psi-mi:“MI:0915”(physical association)	0.690
TMEM102	SLC12A4	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
GDF5	SERPINB7	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
PCMT1	YDJC	psi-mi:“MI:0914”(association)	0.350
ZC3H3	ANKHD1	psi-mi:“MI:0914”(association)	0.350
RAB3IL1	PPFIA3	psi-mi:“MI:0914”(association)	0.350
TRAF2	GSK3B	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
GDF15	CCDC85C	psi-mi:“MI:0914”(association)	0.350
TRAF2	YAP1	psi-mi:“MI:0914”(association)	0.350
NUAK1	DOCK1	psi-mi:“MI:0914”(association)	0.350
ZC3H3	APOBEC3DE	psi-mi:“MI:0914”(association)	0.350
GDF15	HTRA2	psi-mi:“MI:0914”(association)	0.350
YWHAG	TMEM102	psi-mi:“MI:0915”(physical association)	0.000
TMEM102	TRAPPC10	psi-mi:“MI:0915”(physical association)	0.000
TMEM102	MB21D2	psi-mi:“MI:0915”(physical association)	0.000
TRAPPC3	TMEM102	psi-mi:“MI:0915”(physical association)	0.000
RAB3IL1	TMEM102	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (34): TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TRAPPC10 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TMEM102 (Affinity Capture-MS), TRAPPC2L (Affinity Capture-MS), PDLIM7 (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96

Diamond homologs: Q1LZD1, Q3UPR7, Q8IYB1, Q8N9M5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	5	126.9×	2e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	112.0×	2e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	112.0×	2e-08
Activation of BH3-only proteins	5	82.8×	1e-07
RHO GTPases activate PKNs	5	52.9×	8e-07
Intrinsic Pathway for Apoptosis	5	48.8×	1e-06
RAB GEFs exchange GTP for GDP on RABs	9	37.2×	2e-10
COPII-mediated vesicle transport	6	32.6×	6e-07

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle tethering	6	169.9×	1e-10
endoplasmic reticulum to Golgi vesicle-mediated transport	6	23.3×	2e-05
intracellular protein localization	5	14.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

83 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

341 predictions. Top by Δscore:

Variant	Effect	Δscore
17:7436081:GCTTG:G	donor_gain	1.0000
17:7436082:CTTG:C	donor_gain	1.0000
17:7436084:TG:T	donor_gain	1.0000
17:7436084:TGGT:T	donor_loss	1.0000
17:7436085:GG:G	donor_gain	1.0000
17:7436086:G:GG	donor_gain	1.0000
17:7436086:GTAA:G	donor_loss	1.0000
17:7436083:TTG:T	donor_gain	0.9900
17:7436087:TAA:T	donor_loss	0.9800
17:7436190:TTAG:T	acceptor_loss	0.9800
17:7436192:AGGT:A	acceptor_loss	0.9800
17:7436192:A:AG	acceptor_gain	0.9400
17:7436193:G:GG	acceptor_gain	0.9400
17:7435851:A:AG	acceptor_gain	0.9300
17:7435852:G:GG	acceptor_gain	0.9300
17:7436193:GGTCT:G	acceptor_gain	0.9300
17:7436190:TTAGG:T	acceptor_gain	0.9200
17:7436191:TAGG:T	acceptor_gain	0.9200
17:7435852:GCCC:G	acceptor_gain	0.9100
17:7436193:G:T	acceptor_gain	0.9100
17:7436192:AGGTC:A	acceptor_gain	0.9000
17:7435463:ACCT:A	donor_gain	0.8800
17:7435630:C:G	donor_gain	0.8800
17:7435457:G:GT	donor_gain	0.8700
17:7435641:GAACC:G	donor_gain	0.8600
17:7435642:AACCA:A	donor_gain	0.8600
17:7436189:TTTAG:T	acceptor_gain	0.8500
17:7436064:G:GT	donor_gain	0.8300
17:7435460:G:GG	donor_gain	0.8000
17:7435852:GCCCA:G	acceptor_gain	0.8000

AlphaMissense

3197 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:7436334:T:C	F119L	0.988
17:7436336:C:A	F119L	0.988
17:7436336:C:G	F119L	0.988
17:7437078:T:C	F367L	0.988
17:7437080:T:A	F367L	0.988
17:7437080:T:G	F367L	0.988
17:7435953:T:C	F28L	0.987
17:7435955:C:A	F28L	0.987
17:7435955:C:G	F28L	0.987
17:7436071:T:A	V67D	0.985
17:7435981:T:C	L37S	0.984
17:7436925:T:C	F316L	0.984
17:7436927:C:A	F316L	0.984
17:7436927:C:G	F316L	0.984
17:7437339:T:C	F454L	0.984
17:7437341:T:A	F454L	0.984
17:7437341:T:G	F454L	0.984
17:7435954:T:C	F28S	0.982
17:7436926:T:C	F316S	0.982
17:7437340:T:C	F454S	0.982
17:7435990:T:C	L40P	0.980
17:7437079:T:C	F367S	0.980
17:7437289:T:C	L437P	0.979
17:7437279:T:C	C434R	0.978
17:7436335:T:C	F119S	0.977
17:7437235:T:C	L419P	0.977
17:7436787:T:C	F270L	0.976
17:7436789:C:A	F270L	0.976
17:7436789:C:G	F270L	0.976
17:7437246:T:G	Y423D	0.976

dbSNP variants (sampled 300 via entrez): RS1000521398 (17:7433489 C>A,T), RS1001646359 (17:7436543 C>T), RS1003228713 (17:7433828 C>G), RS1004024128 (17:7437493 G>A,C,T), RS1004116358 (17:7434321 C>A,T), RS1004143951 (17:7434011 A>G), RS1005457835 (17:7437616 C>A,G,T), RS1006046394 (17:7435984 C>G,T), RS1006492822 (17:7435350 G>A), RS1007469676 (17:7437183 G>A), RS1007499275 (17:7437044 C>T), RS1010089384 (17:7437275 CT>C), RS1010288002 (17:7434961 G>A,T), RS1010320913 (17:7434578 T>A), RS1011327181 (17:7436258 G>T)

Disease associations

OMIM: gene MIM:613936 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010002_119	Refractive error	3.000000e-22
GCST010703_158	Brain morphology (MOSTest)	3.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
GSK-J4	decreases expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Caffeine	decreases phosphorylation	1
Calcitriol	increases expression, affects cotreatment	1
Silicon Dioxide	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.