TMEM101

Summary

TMEM101 (transmembrane protein 101, HGNC:28653) is a protein-coding gene on chromosome 17q21.31, encoding Transmembrane protein 101 (Q96IK0). May activate NF-kappa-B signaling pathways.

Involved in positive regulation of canonical NF-kappaB signal transduction. Predicted to be located in membrane.

Source: NCBI Gene 84336 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_032376

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28653
Approved symbol	TMEM101
Name	transmembrane protein 101
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	MGC4251, FLJ23987
Ensembl gene	ENSG00000091947
Ensembl biotype	protein_coding
Entrez	84336

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000206380, ENST00000585950, ENST00000586174, ENST00000587529, ENST00000589334, ENST00000590905, ENST00000591162, ENST00000592127, ENST00000860792

RefSeq mRNA: 3 — MANE Select: NM_032376 NM_001304813, NM_001304814, NM_032376

CCDS: CCDS11474

Canonical transcript exons

ENST00000206380 — 4 exons

Exon	Start	End
ENSE00000588523	44014816	44014963
ENSE00003892239	44011188	44012236
ENSE00003895501	44013009	44013155
ENSE00003895562	44014357	44014537

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 95.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.7027 / max 94.9461, expressed in 1794 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166291	16.6704	1790
166293	0.0163	6
166292	0.0101	4
166294	0.0059	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
metanephros cortex	UBERON:0010533	95.09	gold quality
endometrium	UBERON:0001295	94.41	gold quality
seminal vesicle	UBERON:0000998	93.21	gold quality
body of pancreas	UBERON:0001150	91.54	gold quality
mucosa of transverse colon	UBERON:0004991	91.28	gold quality
tendon of biceps brachii	UBERON:0008188	91.12	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.37	gold quality
body of stomach	UBERON:0001161	90.05	gold quality
stromal cell of endometrium	CL:0002255	90.02	gold quality
right uterine tube	UBERON:0001302	89.68	gold quality
buccal mucosa cell	CL:0002336	89.61	gold quality
apex of heart	UBERON:0002098	89.59	gold quality
gastrocnemius	UBERON:0001388	89.02	gold quality
left testis	UBERON:0004533	88.97	gold quality
skin of abdomen	UBERON:0001416	88.94	gold quality
lower esophagus mucosa	UBERON:0035834	88.73	gold quality
right testis	UBERON:0004534	88.64	gold quality
muscle of leg	UBERON:0001383	88.61	gold quality
endocervix	UBERON:0000458	88.52	gold quality
granulocyte	CL:0000094	88.42	gold quality
right lobe of thyroid gland	UBERON:0001119	88.37	gold quality
minor salivary gland	UBERON:0001830	88.33	gold quality
body of uterus	UBERON:0009853	88.29	gold quality
pancreas	UBERON:0001264	88.25	gold quality
skin of leg	UBERON:0001511	88.25	gold quality
vagina	UBERON:0000996	88.24	gold quality
monocyte	CL:0000576	88.20	gold quality
esophagus mucosa	UBERON:0002469	88.05	gold quality
leukocyte	CL:0000738	87.95	gold quality
testis	UBERON:0000473	87.86	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	50.05
E-CURD-119	yes	44.50
E-ANND-3	yes	12.02
E-MTAB-6678	yes	9.92
E-MTAB-7606	no	1255.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting TMEM101, 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-3163	100.00	77.23	8605
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-7978	99.86	66.90	856
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-3164	99.02	68.39	1071
HSA-MIR-6820-3P	99.02	68.50	1035
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-548Q	98.71	65.35	563

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem101	ENSDARG00000114508
mus_musculus	Tmem101	ENSMUSG00000020921
rattus_norvegicus	Tmem101	ENSRNOG00000054581

Protein

Protein identifiers

Transmembrane protein 101 — Q96IK0 (reviewed: Q96IK0)

Alternative names: Putative NF-kappa-B-activating protein 130

All UniProt accessions (5): Q96IK0, K7EM07, K7EM72, K7EPU9, K7ERS4

UniProt curated annotations — full annotation on UniProt →

Function. May activate NF-kappa-B signaling pathways.

Subcellular location. Membrane.

RefSeq proteins (3): NP_001291742, NP_001291743, NP_115752* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029371	TMEM101	Family

Pfam: PF15111

UniProt features (9 total): transmembrane region 8, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96IK0-F1	89.34	0.60

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 121 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, LUND_SILENCED_BY_METHYLATION, SMID_BREAST_CANCER_LUMINAL_B_UP, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, HAN_SATB1_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, SCGGAAGY_ELK1_02, ER_Q6_01, HATADA_METHYLATED_IN_LUNG_CANCER_UP, ZWANG_EGF_INTERVAL_DN, ALKBH3_TARGET_GENES, CIITA_TARGET_GENES, DIDO1_TARGET_GENES, FOXN3_TARGET_GENES

GO Biological Process (1): positive regulation of canonical NF-kappaB signal transduction (GO:0043123)

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

554 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM101	TMEM223	A0PJW6	562
TMEM101	TMEM208	Q9BTX3	510
TMEM101	RPP40	O75818	506
TMEM101	TMEM59L	Q9UK28	486
TMEM101	FAM181B	A6NEQ2	477
TMEM101	TMEM115	Q12893	472
TMEM101	CDKL2	Q92772	445
TMEM101	LAGE3	Q14657	445
TMEM101	LCA5	Q86VQ0	432
TMEM101	GATAD1	Q8WUU5	429
TMEM101	CDC23	Q9UJX2	414
TMEM101	KRCC1	Q9NPI7	412
TMEM101	FHAD1	B1AJZ9	411
TMEM101	NTRK1	P04629	402
TMEM101	UBIAD1	Q9Y5Z9	389

IntAct

65 interactions, top by confidence:

A	B	Type	Score
STRIT1	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
STX10	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
TMEM101	BNIP3	psi-mi:“MI:0915”(physical association)	0.560
VAMP1	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
ARLN	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
BNIP3	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
VAMP2	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
TMEM101	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
VAPB	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
TMEM101	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
TMEM101	PKMYT1	psi-mi:“MI:0915”(physical association)	0.560
NDUFA3	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
	TMEM101	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (33): TMEM101 (Affinity Capture-RNA), STX10 (Two-hybrid), VAPB (Two-hybrid), PKMYT1 (Two-hybrid), TMEM243 (Two-hybrid), VAMP1 (Two-hybrid), PDZK1IP1 (Two-hybrid), C4orf3 (Two-hybrid), TMEM65 (Two-hybrid), NDUFA3 (Two-hybrid), NINJ2 (Two-hybrid), BNIP3 (Two-hybrid), TMIE (Two-hybrid), GIMAP1 (Two-hybrid), SYNJ2BP (Two-hybrid)

ESM2 similar proteins: A0A0N0DCA4, A0A194XK05, A0A7L9EZ67, A0A8F4NUZ8, A0A8F4S726, C6Y4A4, D2I2F3, G5EEQ9, O94440, P0DXW0, P32564, P34296, P53748, Q0VD15, Q10255, Q10436, Q12155, Q29RQ9, Q3B8H0, Q53FV1, Q55E32, Q5E972, Q5R570, Q5R8X5, Q5RFN8, Q5VVB8, Q5XH57, Q5XJR6, Q5ZIU0, Q6NZZ4, Q6QI25, Q6UX40, Q74ZU2, Q86H65, Q8JFB7, Q8N138, Q8STK5, Q8SW90, Q91VP7, Q921I0

Diamond homologs: Q2KIB3, Q5RFN8, Q91VP7, Q96IK0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

942 predictions. Top by Δscore:

Variant	Effect	Δscore
17:44013151:CGGAC:C	acceptor_gain	1.0000
17:44013162:C:CT	acceptor_gain	1.0000
17:44013163:G:T	acceptor_gain	1.0000
17:44014351:GCTCA:G	donor_loss	1.0000
17:44014352:CTCA:C	donor_loss	1.0000
17:44014353:TCACC:T	donor_loss	1.0000
17:44014354:CACCT:C	donor_loss	1.0000
17:44014355:A:AC	donor_gain	1.0000
17:44014356:C:CC	donor_gain	1.0000
17:44014356:CCTT:C	donor_gain	1.0000
17:44014546:C:CT	acceptor_gain	1.0000
17:44014547:G:T	acceptor_gain	1.0000
17:44014551:G:C	acceptor_gain	1.0000
17:44014551:G:GC	acceptor_gain	1.0000
17:44012232:TAGGC:T	acceptor_gain	0.9900
17:44012234:GGCC:G	acceptor_loss	0.9900
17:44012235:GCC:G	acceptor_loss	0.9900
17:44012237:C:CC	acceptor_gain	0.9900
17:44013004:CAT:C	donor_loss	0.9900
17:44013007:A:AC	donor_gain	0.9900
17:44013007:ACC:A	donor_loss	0.9900
17:44013008:C:CC	donor_gain	0.9900
17:44013008:C:CT	donor_gain	0.9900
17:44013008:CCA:C	donor_gain	0.9900
17:44013008:CCACA:C	donor_gain	0.9900
17:44013155:CCTAG:C	acceptor_loss	0.9900
17:44013156:C:CC	acceptor_gain	0.9900
17:44014355:AC:A	donor_gain	0.9900
17:44014356:CC:C	donor_gain	0.9900
17:44014356:CCT:C	donor_gain	0.9900

AlphaMissense

1640 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:44014474:A:C	S67R	0.999
17:44014474:A:T	S67R	0.999
17:44014476:T:G	S67R	0.999
17:44012002:A:G	W234R	0.998
17:44012002:A:T	W234R	0.998
17:44013029:C:G	G149R	0.995
17:44013099:G:C	S125R	0.995
17:44013099:G:T	S125R	0.995
17:44013101:T:G	S125R	0.995
17:44014868:A:G	W29R	0.995
17:44014868:A:T	W29R	0.995
17:44012029:A:G	W225R	0.993
17:44012029:A:T	W225R	0.993
17:44013043:C:T	G144D	0.993
17:44013119:C:G	G119R	0.993
17:44013121:C:T	G118D	0.993
17:44013122:C:G	G118R	0.993
17:44013130:G:T	A115D	0.993
17:44011959:C:T	G248E	0.992
17:44014365:A:G	W104R	0.992
17:44014365:A:T	W104R	0.992
17:44012000:C:A	W234C	0.991
17:44012000:C:G	W234C	0.991
17:44012027:C:A	W225C	0.991
17:44012027:C:G	W225C	0.991
17:44013044:C:G	G144R	0.991
17:44014441:G:C	F78L	0.991
17:44014441:G:T	F78L	0.991
17:44014443:A:G	F78L	0.991
17:44014478:G:T	A66D	0.991

dbSNP variants (sampled 300 via entrez): RS1000233251 (17:44013649 ACT>A), RS1000506535 (17:44016707 A>C), RS1000612799 (17:44022939 C>T), RS1000959208 (17:44018620 G>A), RS1001011597 (17:44018136 A>C), RS1001213873 (17:44016339 A>G), RS1001629646 (17:44021201 AG>A), RS1001922267 (17:44023874 G>A), RS1002288829 (17:44024083 C>A,G,T), RS1002310749 (17:44015084 G>C,T), RS1002481557 (17:44018074 G>A), RS1002569675 (17:44017664 G>A), RS1002588511 (17:44018394 G>A,C,T), RS1002954394 (17:44014304 C>G,T), RS1002985435 (17:44014633 C>A,G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
potassium chromate(VI)	increases expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
(+)-JQ1 compound	decreases expression	1
Arsenic	affects methylation	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Smoke	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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