TMEM80

Summary

TMEM80 (transmembrane protein 80, HGNC:27453) is a protein-coding gene on chromosome 11p15.5, encoding Transmembrane protein 80 (Q96HE8).

Predicted to be involved in non-motile cilium assembly. Predicted to be located in cilium and membrane. Predicted to be active in ciliary transition zone.

Source: NCBI Gene 283232 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001042463

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27453
Approved symbol	TMEM80
Name	transmembrane protein 80
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38216
Ensembl gene	ENSG00000177042
Ensembl biotype	protein_coding
OMIM	620248
Entrez	283232

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000397510, ENST00000397512, ENST00000488769, ENST00000492023, ENST00000526170, ENST00000528024, ENST00000608174, ENST00000873392

RefSeq mRNA: 5 — MANE Select: NM_001042463 NM_001042463, NM_001276253, NM_001276274, NM_001384408, NM_174940

CCDS: CCDS41587, CCDS73231, CCDS7711, CCDS91399

Canonical transcript exons

ENST00000397510 — 5 exons

Exon	Start	End
ENSE00001894782	702945	704129
ENSE00003533679	698869	698888
ENSE00003588770	700615	700707
ENSE00003666859	700142	700235
ENSE00003709704	695816	695846

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 97.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0102 / max 50.1962, expressed in 1745 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112237	3.9373	1606
112235	1.1308	713
112236	0.9421	608

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	97.28	gold quality
lower esophagus mucosa	UBERON:0035834	96.12	gold quality
right uterine tube	UBERON:0001302	95.31	gold quality
right lobe of thyroid gland	UBERON:0001119	95.22	gold quality
left lobe of thyroid gland	UBERON:0001120	95.17	gold quality
parotid gland	UBERON:0001831	94.32	gold quality
thyroid gland	UBERON:0002046	94.30	gold quality
metanephros cortex	UBERON:0010533	93.79	gold quality
mucosa of stomach	UBERON:0001199	93.46	gold quality
apex of heart	UBERON:0002098	93.05	gold quality
ectocervix	UBERON:0012249	92.67	gold quality
lower esophagus	UBERON:0013473	92.67	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.67	gold quality
endocervix	UBERON:0000458	92.59	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.56	gold quality
body of stomach	UBERON:0001161	92.51	gold quality
adenohypophysis	UBERON:0002196	92.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.49	gold quality
right coronary artery	UBERON:0001625	92.39	gold quality
body of uterus	UBERON:0009853	92.33	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.30	gold quality
transverse colon	UBERON:0001157	92.27	gold quality
esophagus	UBERON:0001043	92.21	gold quality
right ovary	UBERON:0002118	92.20	gold quality
esophagus mucosa	UBERON:0002469	92.16	gold quality
descending thoracic aorta	UBERON:0002345	92.15	gold quality
tibial nerve	UBERON:0001323	91.87	gold quality
pituitary gland	UBERON:0000007	91.80	gold quality
right testis	UBERON:0004534	91.70	gold quality
left testis	UBERON:0004533	91.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting TMEM80, 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-8485	100.00	77.57	4731
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4316	99.37	65.75	1360

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem80	ENSMUSG00000025505
rattus_norvegicus	Tmem80	ENSRNOG00000063852
drosophila_melanogaster	TMEM216	FBGN0037614
drosophila_melanogaster	CG11760	FBGN0037615
caenorhabditis_elegans		WBGENE00194710

Paralogs (2): TMEM17 (ENSG00000186889), TMEM216 (ENSG00000187049)

Protein

Protein identifiers

Transmembrane protein 80 — Q96HE8 (reviewed: Q96HE8)

All UniProt accessions (5): Q96HE8, A0A0A0MTU4, A0AAA9X375, E9PQJ9, S4R441

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane. Cell projection. Cilium.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96HE8-1	1	yes
Q96HE8-2	2

RefSeq proteins (5): NP_001035928, NP_001263182, NP_001263203, NP_001371337, NP_777600 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019184	Uncharacterised_TM-17	Family

Pfam: PF09799

UniProt features (6 total): transmembrane region 4, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96HE8-F1	84.29	0.36

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 98 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, YY1_02, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, MYB_Q3, GOBP_CELL_PROJECTION_ORGANIZATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, LIU_SOX4_TARGETS_DN, GOCC_CILIARY_TRANSITION_ZONE, GOCC_CILIUM, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, OKUMURA_INFLAMMATORY_RESPONSE_LPS

GO Biological Process (1): non-motile cilium assembly (GO:1905515)

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

GO Cellular Component (4): membrane (GO:0016020), ciliary transition zone (GO:0035869), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium assembly	1
binding	1
cilium	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

550 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM80	TMEM231	Q9H6L2	745
TMEM80	B9D1	Q9UPM9	719
TMEM80	TMEM237	Q96Q45	682
TMEM80	B9D2	Q9BPU9	651
TMEM80	ZNF483	Q8TF39	529
TMEM80	TMEM67	Q5HYA8	527
TMEM80	CC2D2A	Q9P2K1	524
TMEM80	NPHP4	O75161	510
TMEM80	CEP290	O15078	480
TMEM80	NPHP1	O15259	472
TMEM80	RPGRIP1L	Q68CZ1	459
TMEM80	CEP162	Q5TB80	456
TMEM80	DEAF1	O75398	447
TMEM80	PHRF1	Q9P1Y6	433
TMEM80	TMEM107	Q6UX40	426

IntAct

199 interactions, top by confidence:

A	B	Type	Score
TUSC5	TMEM80	psi-mi:“MI:0915”(physical association)	0.600
PMP22	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
AIG1	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
TTMP	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
CMTM5	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
CNIH3	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
CLDND2	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
RPRM	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
IER3IP1	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
TMEM128	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
TMEM80	ADGRE2	psi-mi:“MI:0915”(physical association)	0.560
CXCR2	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
CLDN19	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
EMD	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
PTPN9	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
AQP1	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
ARL6IP6	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
TMEM80	TVP23B	psi-mi:“MI:0915”(physical association)	0.560
TMEM80	AIG1	psi-mi:“MI:0915”(physical association)	0.560
STX7	TMEM80	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (68): WNT4 (Two-hybrid), TMEM80 (Affinity Capture-MS), TMEM80 (Affinity Capture-MS), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid), TMEM80 (Two-hybrid)

ESM2 similar proteins: A1A4P6, A1A5B4, A5PK40, A6NDV4, A6NFX1, A6NGC4, A6QL84, A6QLK4, B1AWJ5, B6ID01, E1BY51, P58749, Q2TA01, Q2YDG0, Q32PG7, Q3T9M1, Q4R7X9, Q5HZE5, Q5JZQ7, Q5R6H1, Q5RBY7, Q60HE8, Q6AY05, Q6AYM9, Q6PHN7, Q6TCG5, Q6UX01, Q6UXD7, Q7RTT9, Q7Z403, Q80ZE4, Q8CE47, Q8R139, Q8TBR7, Q96FZ5, Q96HE8, Q96S97, Q9BSA9, Q9BZW5, Q9CQC4

Diamond homologs: A1A4P6, A5D6V4, B6ID01, E1BY51, E7EYQ9, Q2TA01, Q5HZE5, Q96HE8, Q9CQC4, Q9D3H0, Q9P0N5, A4FUY9, F6RWY9, Q502E0, Q5HZD4, Q86X19, Q8K0U3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

792 predictions. Top by Δscore:

Variant	Effect	Δscore
11:698977:C:CG	donor_gain	1.0000
11:698977:C:G	donor_gain	0.9900
11:698986:GTCTA:G	donor_gain	0.9800
11:700706:GG:G	donor_gain	0.9800
11:700707:GG:G	donor_gain	0.9800
11:698991:G:GG	donor_gain	0.9700
11:698948:A:T	donor_gain	0.9600
11:698982:T:G	donor_gain	0.9600
11:702941:CCAGG:C	acceptor_gain	0.9600
11:702942:CAGG:C	acceptor_gain	0.9600
11:702943:AGGCA:A	acceptor_gain	0.9600
11:700612:CAGG:C	acceptor_loss	0.9500
11:700613:A:C	acceptor_loss	0.9500
11:700614:G:GA	acceptor_loss	0.9500
11:700614:GGT:G	acceptor_gain	0.9400
11:700704:CTGGG:C	donor_loss	0.9400
11:700705:TGGGT:T	donor_loss	0.9400
11:700706:GGGTG:G	donor_loss	0.9400
11:700707:GGT:G	donor_loss	0.9400
11:700708:GTGAG:G	donor_loss	0.9400
11:700709:T:C	donor_loss	0.9400
11:700710:GAGTG:G	donor_loss	0.9400
11:700711:AG:A	donor_loss	0.9400
11:700712:G:C	donor_loss	0.9400
11:696280:G:GG	donor_gain	0.9300
11:700614:GGTCA:G	acceptor_gain	0.9300
11:702941:CCAG:C	acceptor_loss	0.9300
11:702942:CA:C	acceptor_loss	0.9300
11:702944:G:GT	acceptor_loss	0.9300
11:696279:A:AG	donor_gain	0.9200

AlphaMissense

1334 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:700234:A:C	K117N	0.971
11:700234:A:T	K117N	0.971
11:702989:A:C	S164R	0.969
11:702991:C:A	S164R	0.969
11:702991:C:G	S164R	0.969
11:700233:A:T	K117I	0.968
11:702958:C:A	N153K	0.947
11:702958:C:G	N153K	0.947
11:700677:G:A	G139R	0.930
11:700677:G:C	G139R	0.930
11:703076:A:C	S193R	0.928
11:703078:C:A	S193R	0.928
11:703078:C:G	S193R	0.928
11:700707:G:C	G149R	0.907
11:702953:G:C	G152R	0.904
11:700623:T:C	F121L	0.892
11:700625:C:A	F121L	0.892
11:700625:C:G	F121L	0.892
11:703031:T:C	F178L	0.877
11:703033:C:A	F178L	0.877
11:703033:C:G	F178L	0.877
11:703139:T:C	F214L	0.873
11:703141:C:A	F214L	0.873
11:703141:C:G	F214L	0.873
11:700233:A:C	K117T	0.868
11:702954:G:T	G152V	0.852
11:700162:A:C	Q93H	0.843
11:700162:A:T	Q93H	0.843
11:700232:A:G	K117E	0.839
11:702954:G:A	G152D	0.836

dbSNP variants (sampled 300 via entrez): RS1000101704 (11:703659 C>A,T), RS1000472372 (11:704914 G>A,T), RS1000550716 (11:701322 G>A), RS1000695264 (11:700260 C>T), RS1000796859 (11:694693 C>T), RS1000848141 (11:694450 T>C,G), RS1001104751 (11:704725 G>A,C,T), RS1001107686 (11:695661 G>C), RS1001494812 (11:704697 T>C), RS1001554317 (11:700133 A>C,G), RS1001640719 (11:694152 A>G), RS1001719666 (11:694947 C>G,T), RS1001966843 (11:693935 G>A), RS1002124500 (11:699600 T>A), RS1002502587 (11:703533 T>C)

Disease associations

OMIM: gene MIM:620248 | 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

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, affects methylation	2
Hydrogen Peroxide	affects expression, affects cotreatment, decreases expression	2
Valproic Acid	affects cotreatment, increases expression, decreases expression, increases methylation	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression, increases methylation	1
sulforaphane	decreases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
dimethylarsinous acid	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Hydralazine	increases expression, affects cotreatment	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Theophylline	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases methylation	1

Clinical trials (associated diseases)

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