TMED8

Summary

TMED8 (transmembrane p24 trafficking protein family member 8, HGNC:18633) is a protein-coding gene on chromosome 14q24.3, encoding Protein TMED8 (Q6PL24).

At a glance

• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_213601

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18633
Approved symbol	TMED8
Name	transmembrane p24 trafficking protein family member 8
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000100580
Ensembl biotype	protein_coding
Entrez	283578

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000216468, ENST00000868372

RefSeq mRNA: 4 — MANE Select: NM_213601 NM_001346131, NM_001346133, NM_001346134, NM_213601

CCDS: CCDS32125

Canonical transcript exons

ENST00000216468 — 6 exons

Exon	Start	End
ENSE00000659299	77343178	77343483
ENSE00000659300	77343697	77343823
ENSE00000659301	77346349	77346478
ENSE00001231307	77351673	77351751
ENSE00001231314	77376936	77377094
ENSE00001231326	77335029	77341988

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 99.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.1169 / max 238.3430, expressed in 1810 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144225	19.6724	1809
144226	0.2723	134
207311	0.1723	49

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.10	gold quality
secondary oocyte	CL:0000655	98.48	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.44	gold quality
pancreatic ductal cell	CL:0002079	98.33	gold quality
epithelial cell of pancreas	CL:0000083	98.18	gold quality
middle temporal gyrus	UBERON:0002771	97.79	gold quality
oviduct epithelium	UBERON:0004804	97.10	gold quality
kidney epithelium	UBERON:0004819	96.32	gold quality
oocyte	CL:0000023	96.00	gold quality
tibia	UBERON:0000979	95.46	gold quality
ileal mucosa	UBERON:0000331	95.33	gold quality
visceral pleura	UBERON:0002401	94.68	gold quality
germinal epithelium of ovary	UBERON:0001304	94.20	gold quality
parietal pleura	UBERON:0002400	94.10	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.87	gold quality
entorhinal cortex	UBERON:0002728	93.13	gold quality
superior vestibular nucleus	UBERON:0007227	92.96	gold quality
parietal lobe	UBERON:0001872	92.82	gold quality
postcentral gyrus	UBERON:0002581	92.81	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.63	gold quality
substantia nigra pars compacta	UBERON:0001965	92.37	gold quality
medulla oblongata	UBERON:0001896	92.13	gold quality
caput epididymis	UBERON:0004358	92.04	gold quality
renal medulla	UBERON:0000362	92.01	gold quality
epithelium of nasopharynx	UBERON:0001951	91.98	gold quality
nasopharynx	UBERON:0001728	91.96	gold quality
superior frontal gyrus	UBERON:0002661	91.96	gold quality
cauda epididymis	UBERON:0004360	91.87	gold quality
ventral tegmental area	UBERON:0002691	91.86	gold quality
trabecular bone tissue	UBERON:0002483	91.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7249	yes	10.89
E-ANND-3	yes	5.86

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmed8	ENSDARG00000052390
mus_musculus	Tmed8	ENSMUSG00000034111
rattus_norvegicus	Tmed8	ENSRNOG00000077115
drosophila_melanogaster	CG14232	FBGN0031061
caenorhabditis_elegans		WBGENE00012765

Paralogs (1): ACBD3 (ENSG00000182827)

Protein

Protein identifiers

Protein TMED8 — Q6PL24 (reviewed: Q6PL24)

All UniProt accessions (1): Q6PL24

RefSeq proteins (4): NP_001333060, NP_001333062, NP_001333063, NP_998766* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009038	GOLD_dom	Domain
IPR036598	GOLD_dom_sf	Homologous_superfamily
IPR052269	Golgi-PI4KB_interaction	Family

Pfam: PF13897

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PL24-F1	69.91	0.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 169

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 72 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, chr14q24, DOUGLAS_BMI1_TARGETS_DN, SENESE_HDAC3_TARGETS_DN, DUTERTRE_ESTRADIOL_RESPONSE_6HR_UP, DUTERTRE_ESTRADIOL_RESPONSE_24HR_UP, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_UP, FORTSCHEGGER_PHF8_TARGETS_DN, ELF2_TARGET_GENES, ZMYM2_TARGET_GENES, ZNF563_TARGET_GENES, ZNF711_TARGET_GENES, GSE10239_KLRG1INT_VS_KLRG1HIGH_EFF_CD8_TCELL_DN, GSE14000_UNSTIM_VS_4H_LPS_DC_UP, GSE15930_NAIVE_VS_48H_IN_VITRO_STIM_CD8_TCELL_UP

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

1023 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMED8	SAMD15	Q9P1V8	599
TMED8	NOXRED1	Q6NXP6	575
TMED8	SLIRP-OT1	Q8N769	574
TMED8	OR10C1	Q96KK4	419
TMED8	GSTZ1	O43708	414
TMED8	TMEM63C	Q9P1W3	409
TMED8	OR52K1	Q8NGK4	399
TMED8	SHISAL2B	A6NKW6	392
TMED8	PUS7L	Q9H0K6	387
TMED8	DEPDC7	Q96QD5	381
TMED8	DNLZ	Q5SXM8	377
TMED8	ZNF280D	Q6N043	371
TMED8	ARL6IP6	Q8N6S5	371
TMED8	FAM153A	Q9UHL3	370
TMED8	LGSN	Q5TDP6	367

IntAct

136 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TMED8	STX8	psi-mi:“MI:0915”(physical association)	0.600
TMED8	DEFB129	psi-mi:“MI:0915”(physical association)	0.560
TMED8	MTIF3	psi-mi:“MI:0915”(physical association)	0.560
TMED8	MRPL41	psi-mi:“MI:0915”(physical association)	0.560
TMED8	EI24	psi-mi:“MI:0915”(physical association)	0.560
TMED8	CMTM5	psi-mi:“MI:0915”(physical association)	0.560
LAPTM4A	TMED8	psi-mi:“MI:0915”(physical association)	0.560
TMED8	CIAO2A	psi-mi:“MI:0915”(physical association)	0.560
ARL6IP1	TMED8	psi-mi:“MI:0915”(physical association)	0.560
TMED8	SERP2	psi-mi:“MI:0915”(physical association)	0.560
TMEM218	TMED8	psi-mi:“MI:0915”(physical association)	0.560
TMED8	APOL2	psi-mi:“MI:0915”(physical association)	0.560
UNC50	TMED8	psi-mi:“MI:0915”(physical association)	0.560
TMEM115	TMED8	psi-mi:“MI:0915”(physical association)	0.560
TMED8	DGAT2L6	psi-mi:“MI:0915”(physical association)	0.560
TMED8	TMEM254	psi-mi:“MI:0915”(physical association)	0.560
TMED8	CYB561D1	psi-mi:“MI:0915”(physical association)	0.560
TMED8	H4C7	psi-mi:“MI:0915”(physical association)	0.560
TMED8	C10orf67	psi-mi:“MI:0915”(physical association)	0.560
TMED8	TRAM1L1	psi-mi:“MI:0915”(physical association)	0.560
TMED8	MMGT1	psi-mi:“MI:0915”(physical association)	0.560
TMED8	ADTRP	psi-mi:“MI:0915”(physical association)	0.560
TMED8	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (95): TMED8 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), TMED8 (Proximity Label-MS), TMED8 (Proximity Label-MS), TMED8 (Proximity Label-MS), TMED8 (Two-hybrid), TMED8 (Two-hybrid)

ESM2 similar proteins: A0JPN4, A2ARK0, A4QP72, A6ND36, A6QQJ8, D3ZD05, E9Q0S6, O14529, O70240, O88566, P59281, P70298, Q148V8, Q1LZH7, Q3UHI4, Q3UIL6, Q5D1E7, Q5D1E8, Q5DU25, Q5JU85, Q5JV73, Q5R8S0, Q5R9S0, Q5SWY7, Q5XK72, Q63ZY3, Q68CZ2, Q6IQ23, Q6P1H6, Q6P9J5, Q6PDH0, Q6PL24, Q7TNY7, Q7TP65, Q7TSG2, Q80Y50, Q86UU1, Q86UY5, Q86XL3, Q8BX02

Diamond homologs: Q3UHI4, Q5R9S0, Q6PL24, Q7TNY6, Q8BMP6, Q9H3P7, A0FKI7, P07106, Q2KHT9, Q4V869, Q5R7P6, Q5R7V3, Q5T8D3, Q5XG73, Q5ZHQ6, Q640U0, Q641E3, Q66JD7, Q6DGF9, Q8NC06, Q8R0F9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1433 predictions. Top by Δscore:

Variant	Effect	Δscore
14:77341767:T:TA	donor_gain	1.0000
14:77343173:TTTAC:T	donor_loss	1.0000
14:77343174:TTAC:T	donor_loss	1.0000
14:77343175:TAC:T	donor_loss	1.0000
14:77343177:C:T	donor_loss	1.0000
14:77343189:T:TA	donor_gain	1.0000
14:77343484:C:CC	acceptor_gain	1.0000
14:77346483:C:CT	acceptor_gain	1.0000
14:77346484:A:T	acceptor_gain	1.0000
14:77351668:GTTAC:G	donor_loss	1.0000
14:77351669:TTAC:T	donor_loss	1.0000
14:77351670:TACC:T	donor_loss	1.0000
14:77351672:CC:C	donor_loss	1.0000
14:77351749:TCTCT:T	acceptor_loss	1.0000
14:77351750:CT:C	acceptor_gain	1.0000
14:77351751:TC:T	acceptor_loss	1.0000
14:77351752:C:CC	acceptor_gain	1.0000
14:77351753:T:A	acceptor_loss	1.0000
14:77351760:CCA:C	acceptor_gain	1.0000
14:77351761:C:CT	acceptor_gain	1.0000
14:77351762:A:C	acceptor_gain	1.0000
14:77376932:GTACC:G	donor_loss	1.0000
14:77376933:TACC:T	donor_loss	1.0000
14:77376934:A:AG	donor_loss	1.0000
14:77376935:CCTG:C	donor_loss	1.0000
14:77376965:C:CA	donor_gain	1.0000
14:77341774:G:C	donor_gain	0.9900
14:77343176:A:AC	donor_gain	0.9900
14:77343177:C:CC	donor_gain	0.9900
14:77343177:CCTT:C	donor_gain	0.9900

AlphaMissense

2130 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:77341804:C:A	K315N	1.000
14:77341804:C:G	K315N	1.000
14:77341828:G:C	N307K	1.000
14:77341828:G:T	N307K	1.000
14:77341835:A:G	F305S	1.000
14:77341844:A:G	L302P	1.000
14:77343275:A:C	F221L	1.000
14:77343275:A:T	F221L	1.000
14:77343276:A:G	F221S	1.000
14:77343277:A:G	F221L	1.000
14:77343285:C:T	G218E	1.000
14:77343287:A:C	F217L	1.000
14:77343287:A:T	F217L	1.000
14:77343289:A:G	F217L	1.000
14:77343314:A:C	F208L	1.000
14:77343314:A:T	F208L	1.000
14:77343315:A:G	F208S	1.000
14:77343316:A:G	F208L	1.000
14:77343320:C:A	W206C	1.000
14:77343320:C:G	W206C	1.000
14:77343322:A:G	W206R	1.000
14:77343322:A:T	W206R	1.000
14:77341805:T:A	K315M	0.999
14:77341806:T:C	K315E	0.999
14:77341806:T:G	K315Q	0.999
14:77341812:G:T	R313S	0.999
14:77341821:A:G	S310P	0.999
14:77341824:A:C	Y309D	0.999
14:77341827:A:G	S308P	0.999
14:77341829:T:A	N307I	0.999

dbSNP variants (sampled 300 via entrez): RS1000026777 (14:77355147 A>G), RS1000092607 (14:77348002 C>A,T), RS1000311493 (14:77345498 C>A,T), RS1000423278 (14:77347611 G>A), RS1000536753 (14:77352828 G>A), RS1000667890 (14:77359571 A>T), RS1000891701 (14:77334714 G>A), RS1001029518 (14:77353430 C>A,G,T), RS1001030506 (14:77346113 C>T), RS1001236820 (14:77365848 T>C), RS1001248750 (14:77342311 A>G), RS1001277366 (14:77369785 C>G), RS1001302259 (14:77360610 G>A), RS1001328351 (14:77369983 C>T), RS1001396209 (14:77366372 CACCTG>C)

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

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Valproic Acid	increases expression	2
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
afimoxifene	decreases reaction, increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Caffeine	increases phosphorylation	1
Coumestrol	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Estrogens	decreases reaction, increases expression	1
Ivermectin	decreases expression	1
Phthalic Acids	decreases methylation	1
Progesterone	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	increases expression	1

Clinical trials (associated diseases)

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