CTAGE6

Summary

CTAGE6 (CTAGE family member 6, HGNC:28644) is a protein-coding gene on chromosome 7q35, encoding cTAGE family member 6 (Q86UF2).

Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; protein secretion; and vesicle cargo loading. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum exit site and endoplasmic reticulum membrane.

Source: NCBI Gene 340307 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 79 total
• MANE Select transcript: NM_178561

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28644
Approved symbol	CTAGE6
Name	CTAGE family member 6
Location	7q35
Locus type	gene with protein product
Status	Approved
Aliases	MGC41943
Ensembl gene	ENSG00000271321
Ensembl biotype	protein_coding
Entrez	340307

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000470691

RefSeq mRNA: 1 — MANE Select: NM_178561 NM_178561

CCDS: CCDS64790

Canonical transcript exons

ENST00000470691 — 1 exons

Exon	Start	End
ENSE00003554265	143755089	143757696

Expression profiles

Bgee: expression breadth broad, 58 present calls, max score 80.82.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	80.82	gold quality
left testis	UBERON:0004533	77.26	gold quality
testis	UBERON:0000473	76.58	gold quality
granulocyte	CL:0000094	55.86	gold quality
lower esophagus mucosa	UBERON:0035834	52.81	gold quality
bone marrow cell	CL:0002092	51.81	gold quality
calcaneal tendon	UBERON:0003701	49.20	gold quality
tonsil	UBERON:0002372	44.48	silver quality
uterine cervix	UBERON:0000002	42.33	silver quality
islet of Langerhans	UBERON:0000006	41.85	gold quality
bone marrow	UBERON:0002371	41.07	gold quality
ectocervix	UBERON:0012249	40.78	silver quality
esophagus mucosa	UBERON:0002469	40.00	gold quality
skeletal muscle tissue	UBERON:0001134	39.62	gold quality
mucosa of transverse colon	UBERON:0004991	39.53	silver quality
hindlimb stylopod muscle	UBERON:0004252	38.32	gold quality
adrenal tissue	UBERON:0018303	38.30	silver quality
lymph node	UBERON:0000029	38.14	gold quality
blood	UBERON:0000178	37.57	gold quality
endocervix	UBERON:0000458	37.33	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
muscle tissue	UBERON:0002385	36.98	gold quality
descending thoracic aorta	UBERON:0002345	36.95	silver quality
urinary bladder	UBERON:0001255	36.71	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
vagina	UBERON:0000996	35.93	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
minor salivary gland	UBERON:0001830	34.45	silver quality
myometrium	UBERON:0001296	34.24	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting CTAGE6, 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-1200	99.71	70.42	1838
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-8055	97.62	66.09	1023

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mia2	ENSMUSG00000021000
rattus_norvegicus	Mia2	ENSRNOG00000005101
drosophila_melanogaster	Tango1	FBGN0286898

Paralogs (10): OTOR (ENSG00000125879), MIA2 (ENSG00000150527), MIA3 (ENSG00000154305), SPZ1 (ENSG00000164299), CTAGE1 (ENSG00000212710), CTAGE9 (ENSG00000236761), MIA (ENSG00000261857), CTAGE15 (ENSG00000271079), CTAGE4 (ENSG00000288784), CTAGE8 (ENSG00000289604)

Protein

Protein identifiers

cTAGE family member 6 — Q86UF2 (reviewed: Q86UF2)

All UniProt accessions (1): Q86UF2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the cTAGE family.

RefSeq proteins (1): NP_848656* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051500	cTAGE_MIA/OTOR	Family

UniProt features (14 total): sequence conflict 6, region of interest 2, coiled-coil region 2, compositionally biased region 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86UF2-F1	69.68	0.44

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_SECRETION, chr7q35, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOBP_GOLGI_VESICLE_TRANSPORT, GOBP_VESICLE_CARGO_LOADING, GOBP_INTRACELLULAR_TRANSPORT, GOCC_ENDOPLASMIC_RETICULUM_EXIT_SITE, MIR1200, MIR4324, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION, FOURATI_BLOOD_TWINRIX_AGE_25_83YO_RESPONDERS_VS_POOR_RESPONDERS_0DY_UP, GOBP_PROTEIN_LOCALIZATION_TO_EXTRACELLULAR_REGION

GO Biological Process (3): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), protein secretion (GO:0009306), vesicle cargo loading (GO:0035459)

GO Molecular Function (0):

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum exit site (GO:0070971), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytoplasm	1
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
protein transport	1
secretion by cell	1
establishment of protein localization to extracellular region	1
protein localization to extracellular region	1
transport	1
vesicle-mediated transport	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum	1

Protein interactions and networks

STRING

491 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CTAGE6	A0A1B0GVM2	A0A1B0GVM2	720
CTAGE6	TCAF1	Q9Y4C2	506
CTAGE6	OTOR	Q9NRC9	447
CTAGE6	TCAF2	A6NFQ2	447
CTAGE6	ARHGEF5	Q12774	370
CTAGE6	SPDYE1	Q8NFV5	348
CTAGE6	POM121L2	Q96KW2	348
CTAGE6	TMEM131	Q92545	305
CTAGE6	NDST1	P52848	302
CTAGE6	SCGB1C1	Q8TD33	291
CTAGE6	SCGB1C2	P0DMR2	291
CTAGE6	PREB	Q9HCU5	278
CTAGE6	PTPN20	Q4JDL3	259
CTAGE6	HSD3B2	P26439	258
CTAGE6	NUS1	Q96E22	255

IntAct

4 interactions, top by confidence:

A	B	Type	Score
CTAGE6	MIA3	psi-mi:“MI:0915”(physical association)	0.400
CTAGE6	MIA3	psi-mi:“MI:0914”(association)	0.350
ECEL1	ADAM10	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): CTAGE5 (Affinity Capture-MS), MIA3 (Affinity Capture-MS), MIA3 (Affinity Capture-MS), CTAGE6 (Affinity Capture-MS), CTAGE5 (Affinity Capture-MS), CTAGE6 (Affinity Capture-MS), CTAGE1 (Cross-Linking-MS (XL-MS)), MIA2 (Cross-Linking-MS (XL-MS)), MUT (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0JMQ7, A2BGP7, A4D2H0, A4FU28, B4F7A7, O75665, P0C219, P0CG41, Q05D60, Q15025, Q28BZ7, Q28C41, Q2T9X8, Q32LC2, Q499E4, Q4PJT6, Q4R7I4, Q5FWP9, Q5U3Z6, Q5U465, Q5XIA0, Q5XJA2, Q5ZJA3, Q6AXZ4, Q6NRH3, Q6P926, Q6PCG6, Q7M6Y5, Q80Z25, Q865V0, Q86UF2, Q86W54, Q86XR8, Q86YF9, Q86Z20, Q8BMD2, Q8CEE0, Q8IX94, Q8IYJ2, Q8IYX8

Diamond homologs: A4D2H0, A4FU28, P0CG41, Q86UF2, Q8IX94, Q8IX95, Q91ZV0, Q96PC5, Q96RT6, Q9I8P5, Q9I8P6, Q9JIE3, Q9NRC9, Q16674, Q61865, Q62946

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	13
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

45 predictions. Top by Δscore:

Variant	Effect	Δscore
7:143757526:C:CT	donor_gain	0.5600
7:143757561:T:C	donor_gain	0.4800
7:143757523:A:T	donor_gain	0.4300
7:143757576:T:A	donor_gain	0.4300
7:143756039:T:C	acceptor_gain	0.3400
7:143757527:C:CT	donor_gain	0.3300
7:143757528:A:T	donor_gain	0.3300
7:143757573:CT:C	donor_gain	0.3100
7:143755607:A:T	acceptor_gain	0.3000
7:143757524:TACC:T	donor_gain	0.2700
7:143757525:ACCA:A	donor_gain	0.2700
7:143756218:T:A	donor_gain	0.2600
7:143755436:ATCCC:A	acceptor_gain	0.2500
7:143755437:TCCCT:T	acceptor_gain	0.2500
7:143756039:T:TC	acceptor_gain	0.2400
7:143757526:CCA:C	donor_gain	0.2400
7:143755558:C:CC	acceptor_gain	0.2300
7:143755606:C:CT	acceptor_gain	0.2300
7:143755609:C:CT	acceptor_gain	0.2300
7:143757480:C:CT	acceptor_gain	0.2300
7:143755438:CCCTT:C	acceptor_gain	0.2200
7:143755836:ATCAT:A	donor_gain	0.2200
7:143756029:C:G	acceptor_gain	0.2200
7:143757572:A:AC	donor_gain	0.2200
7:143757573:C:CC	donor_gain	0.2200
7:143755817:TTGTC:T	acceptor_loss	0.2100
7:143755818:TGTC:T	acceptor_loss	0.2100
7:143755819:GTC:G	acceptor_loss	0.2100
7:143755820:TC:T	acceptor_loss	0.2100
7:143755821:CC:C	acceptor_loss	0.2100

AlphaMissense

5110 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:143756254:C:G	A469P	0.905
7:143756245:C:G	A472P	0.901
7:143756232:A:G	L476P	0.894
7:143757393:T:A	K89I	0.891
7:143757508:C:G	G51R	0.881
7:143757508:C:T	G51R	0.881
7:143757255:A:G	L135P	0.879
7:143757025:C:G	A212P	0.863
7:143757473:A:C	S62R	0.863
7:143757473:A:T	S62R	0.863
7:143757475:T:G	S62R	0.863
7:143757507:C:T	G51E	0.863
7:143757384:A:G	L92P	0.860
7:143756520:A:G	L380P	0.859
7:143757088:C:G	A191P	0.859
7:143756253:G:T	A469D	0.851
7:143756583:A:G	L359P	0.840
7:143756250:C:G	R470P	0.835
7:143757118:A:G	S181P	0.831
7:143756340:A:G	L440P	0.830
7:143757213:A:G	L149P	0.821
7:143756051:A:C	F536L	0.810
7:143756051:A:T	F536L	0.810
7:143756053:A:G	F536L	0.810
7:143757222:A:G	I146T	0.794
7:143756508:A:G	L384P	0.789
7:143757405:A:G	L85P	0.783
7:143756190:A:G	L490S	0.780
7:143756117:A:C	F514L	0.778
7:143756117:A:T	F514L	0.778

dbSNP variants (sampled 300 via entrez): RS1004961281 (7:143759351 C>T), RS1005400541 (7:143758014 T>C), RS1014115533 (7:143756973 T>C), RS1019109551 (7:143758060 T>C), RS1019455355 (7:143759389 T>A), RS1027740488 (7:143754670 C>T), RS1028123092 (7:143757749 G>A,T), RS1043161405 (7:143756301 T>G), RS1044266321 (7:143758737 T>A), RS1044297501 (7:143756976 T>C), RS1049039551 (7:143759092 T>A), RS1052946179 (7:143756893 C>T), RS111933540 (7:143759478 A>C), RS113319002 (7:143758143 T>C), RS1156834063 (7:143756965 C>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

1 associations (top):

Study	Trait	p-value
GCST008114_13	Type 2 diabetes	8.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation	1
Oxygen	increases expression	1
Smoke	decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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