TMEM61

Summary

TMEM61 (transmembrane protein 61, HGNC:27296) is a protein-coding gene on chromosome 1p32.3, encoding Transmembrane protein 61 (Q8N0U2).

Predicted to be located in membrane.

Source: NCBI Gene 199964 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 41 total
• MANE Select transcript: NM_182532

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27296
Approved symbol	TMEM61
Name	transmembrane protein 61
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000143001
Ensembl biotype	protein_coding
Entrez	199964

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000371268, ENST00000715514, ENST00000715911, ENST00000715912, ENST00000715913, ENST00000715914

RefSeq mRNA: 1 — MANE Select: NM_182532 NM_182532

CCDS: CCDS601

Canonical transcript exons

ENST00000371268 — 3 exons

Exon	Start	End
ENSE00001139645	54986097	54986446
ENSE00004028317	54991836	54992288
ENSE00004028319	54980628	54981080

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 91.83.

FANTOM5 (CAGE): breadth broad, TPM avg 0.6852 / max 91.2964, expressed in 184 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2968	0.3745	141
2969	0.2032	53
2970	0.0730	18
2971	0.0345	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	91.83	gold quality
adenohypophysis	UBERON:0002196	87.82	gold quality
pituitary gland	UBERON:0000007	87.54	gold quality
metanephros cortex	UBERON:0010533	81.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.83	silver quality
kidney epithelium	UBERON:0004819	80.60	gold quality
adult mammalian kidney	UBERON:0000082	79.72	gold quality
bronchial epithelial cell	CL:0002328	79.51	gold quality
bronchus	UBERON:0002185	78.50	gold quality
saliva-secreting gland	UBERON:0001044	77.98	gold quality
lower esophagus mucosa	UBERON:0035834	77.40	gold quality
minor salivary gland	UBERON:0001830	75.56	gold quality
seminal vesicle	UBERON:0000998	75.13	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	74.82	gold quality
mucosa of transverse colon	UBERON:0004991	74.41	gold quality
left adrenal gland cortex	UBERON:0035825	74.13	gold quality
palpebral conjunctiva	UBERON:0001812	73.94	gold quality
left adrenal gland	UBERON:0001234	73.92	gold quality
right adrenal gland	UBERON:0001233	73.90	gold quality
right adrenal gland cortex	UBERON:0035827	73.81	gold quality
mouth mucosa	UBERON:0003729	73.45	gold quality
secondary oocyte	CL:0000655	72.93	gold quality
adrenal cortex	UBERON:0001235	72.81	gold quality
descending thoracic aorta	UBERON:0002345	72.47	gold quality
kidney	UBERON:0002113	72.46	gold quality
ileal mucosa	UBERON:0000331	72.18	silver quality
saphenous vein	UBERON:0007318	71.66	gold quality
cerebellar cortex	UBERON:0002129	70.96	gold quality
cerebellar hemisphere	UBERON:0002245	70.95	gold quality
cerebellum	UBERON:0002037	70.76	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	687.09
E-ANND-3	yes	3.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting TMEM61, 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-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-1909-5P	98.94	64.01	484
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-5087	98.01	69.09	965
HSA-MIR-4432	97.80	67.87	705
HSA-MIR-514A-5P	96.94	65.49	801
HSA-MIR-3657	96.33	66.29	608
HSA-MIR-1293	96.16	64.69	916

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem61	ENSMUSG00000085933
rattus_norvegicus	Tmem61	ENSRNOG00000026594

Protein

Protein identifiers

Transmembrane protein 61 — Q8N0U2 (reviewed: Q8N0U2)

All UniProt accessions (2): Q8N0U2, A0AAQ5BIH8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_872338* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028164	TMEM61	Family

Pfam: PF15105

UniProt features (5 total): transmembrane region 2, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N0U2-F1	59.34	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 21 (showing top): BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MARTENS_TRETINOIN_RESPONSE_UP, MIR3120_3P, MIR577, MIR608, MIR4651, DURANTE_ADULT_OLFACTORY_NEUROEPITHELIUM_OLFACTORY_MICROVILLAR_CELLS, DESCARTES_FETAL_PANCREAS_ISLET_ENDOCRINE_CELLS, NOURUZI_NEPC_ASCL1_TARGETS, GSE27786_ERYTHROBLAST_VS_NEUTROPHIL_DN, GSE33513_TCF7_KO_VS_HET_EARLY_THYMIC_PROGENITOR_UP, chr1p32, GSE2405_0H_VS_1.5H_A_PHAGOCYTOPHILUM_STIM_NEUTROPHIL_UP, GSE18893_CTRL_VS_TNF_TREATED_TREG_2H_DN

GO Biological Process (0):

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
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM61	DYDC1	Q8WWB3	571
TMEM61	TMEM213	A2RRL7	528
TMEM61	TMEM116	Q8NCL8	507
TMEM61	DYDC2	Q96IM9	507
TMEM61	SLC35G2	Q8TBE7	506
TMEM61	RAB42	Q8N4Z0	479
TMEM61	RTP3	Q9BQQ7	440
TMEM61	TMEM45B	Q96B21	434
TMEM61	CDC50B	Q3MIR4	420
TMEM61	TMEM207	Q6UWW9	418
TMEM61	TMEM25	Q86YD3	418
TMEM61	GALNT9	Q9HCQ5	417
TMEM61	EMP3	P54852	411
TMEM61	TMEM72	A0PK05	400
TMEM61	TEX264	Q9Y6I9	395

IntAct

53 interactions, top by confidence:

A	B	Type	Score
ADRB2	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
DMWD	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
TMEM61		psi-mi:“MI:0915”(physical association)	0.560
TMEM61	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
FKBP1A	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
GRN	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
GRIN2C	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
TMEM61	GSN	psi-mi:“MI:0915”(physical association)	0.560
HSPA2	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
TMEM61	PMP22	psi-mi:“MI:0915”(physical association)	0.560
SARS1	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
TSC1	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
TMEM61	WFS1	psi-mi:“MI:0915”(physical association)	0.560
TMEM61	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
RNF11	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	TMEM61	psi-mi:“MI:0915”(physical association)	0.560
TMEM61	SPRED1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (1): TMEM61 (Protein-peptide)

ESM2 similar proteins: A6NCL7, A6NCQ9, A6QP29, A6QQV9, B1AVH7, B5DFA1, D2H0G5, D2H6Z0, D2H788, D3ZBM4, D4A723, E1C2W7, O95153, Q0QWG9, Q3SWY0, Q3T0Y9, Q3U0L2, Q3UV31, Q3V3A7, Q5RF77, Q60943, Q6INB3, Q6PGG2, Q7TNF8, Q7Z465, Q80TI1, Q810L3, Q8BG47, Q8BRJ3, Q8BXP5, Q8C0R7, Q8C432, Q8CEF8, Q8HYZ0, Q8N0U2, Q8N6D2, Q8N8N0, Q8NC24, Q8QZS5, Q8TED9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1028 predictions. Top by Δscore:

Variant	Effect	Δscore
1:54886884:CTCA:C	donor_loss	1.0000
1:54886885:TCAC:T	donor_loss	1.0000
1:54886886:CA:C	donor_loss	1.0000
1:54886887:A:AC	donor_gain	1.0000
1:54886888:C:CC	donor_gain	1.0000
1:54886888:C:CT	donor_loss	1.0000
1:54886888:CCTG:C	donor_gain	1.0000
1:54991833:CA:C	acceptor_loss	1.0000
1:54991834:A:AG	acceptor_gain	1.0000
1:54991834:AG:A	acceptor_gain	1.0000
1:54991835:G:GG	acceptor_gain	1.0000
1:54991835:GG:G	acceptor_gain	1.0000
1:54991835:GGA:G	acceptor_gain	1.0000
1:54990635:C:T	donor_gain	0.9900
1:54991835:GGAC:G	acceptor_gain	0.9900
1:54991835:GGACC:G	acceptor_gain	0.9900
1:54986437:A:T	donor_gain	0.9800
1:54981076:CCCAG:C	donor_loss	0.9700
1:54981077:CCAGG:C	donor_loss	0.9700
1:54981078:CAGG:C	donor_loss	0.9700
1:54981079:AG:A	donor_loss	0.9700
1:54981080:GGT:G	donor_loss	0.9700
1:54981081:G:T	donor_loss	0.9700
1:54981082:T:A	donor_loss	0.9700
1:54991831:T:A	acceptor_gain	0.9700
1:54991833:CAGGA:C	acceptor_gain	0.9700
1:54991834:AGGA:A	acceptor_gain	0.9700
1:54987961:G:GG	donor_gain	0.9600
1:54991831:TGCAG:T	acceptor_gain	0.9600
1:54991832:GCAGG:G	acceptor_gain	0.9600

AlphaMissense

1331 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:54986289:A:C	S70R	0.990
1:54986291:C:A	S70R	0.990
1:54986291:C:G	S70R	0.990
1:54986184:T:C	F35L	0.978
1:54986186:C:A	F35L	0.978
1:54986186:C:G	F35L	0.978
1:54986148:A:C	S23R	0.972
1:54986150:C:A	S23R	0.972
1:54986150:C:G	S23R	0.972
1:54986298:T:C	C73R	0.969
1:54986181:T:C	C34R	0.968
1:54986313:G:C	G78R	0.967
1:54986172:G:A	G31R	0.965
1:54986172:G:C	G31R	0.965
1:54986311:G:A	G77D	0.960
1:54986173:G:A	G31E	0.954
1:54986301:T:C	C74R	0.948
1:54986152:G:A	G24D	0.946
1:54986195:G:C	W38C	0.946
1:54986195:G:T	W38C	0.946
1:54986314:G:A	G78D	0.943
1:54986310:G:C	G77R	0.942
1:54986151:G:C	G24R	0.941
1:54986172:G:T	G31W	0.939
1:54986193:T:A	W38R	0.939
1:54986193:T:C	W38R	0.939
1:54986185:T:C	F35S	0.929
1:54986305:G:A	G75D	0.927
1:54986185:T:G	F35C	0.926
1:54986304:G:C	G75R	0.919

dbSNP variants (sampled 300 via entrez): RS1000674943 (1:54981942 T>G), RS1000766761 (1:54982247 TG>T), RS1000821385 (1:54981271 A>G), RS1001422617 (1:54980135 G>A), RS1001896181 (1:54984403 A>C), RS1002057069 (1:54990038 T>A), RS1002953521 (1:54983334 G>A), RS1003008775 (1:54989651 G>A,C), RS1003205694 (1:54980038 C>T), RS1003536609 (1:54989362 G>A), RS1003625199 (1:54980313 C>T), RS1003775180 (1:54986369 A>G,T), RS1003935130 (1:54985086 T>A), RS1003959937 (1:54978657 A>G), RS1004074825 (1:54992456 A>G)

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

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, increases expression, decreases expression	2
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
licochalcone B	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diazinon	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Progesterone	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
S-Nitrosoglutathione	decreases expression	1

Clinical trials (associated diseases)

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