CTAGE4

Summary

CTAGE4 (CTAGE family member 4, HGNC:24772) is a protein-coding gene on chromosome 7q35, encoding cTAGE family member 4 (Q8IX94). Tumor-associated antigen.

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 100128553 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 73 total — 1 pathogenic
• MANE Select transcript: NM_198495

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24772
Approved symbol	CTAGE4
Name	CTAGE family member 4
Location	7q35
Locus type	gene with protein product
Status	Approved
Aliases	FLJ43692, cTAGE-4
Ensembl gene	ENSG00000288784
Ensembl biotype	protein_coding
OMIM	608910
Entrez	100128553

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000486333

RefSeq mRNA: 1 — MANE Select: NM_198495 NM_198495

CCDS: CCDS55176

Canonical transcript exons

ENST00000486333 — 1 exons

Exon	Start	End
ENSE00002442599	144183466	144186080

Expression profiles

Top tissues by expression

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting CTAGE4, 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-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
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-6126	99.62	68.09	996
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-4324	99.04	70.14	1569
HSA-MIR-6715B-3P	98.80	68.07	1204
HSA-MIR-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
HSA-MIR-152-5P	96.42	66.59	960

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), CTAGE6 (ENSG00000271321), CTAGE8 (ENSG00000289604)

Protein

Protein identifiers

cTAGE family member 4 — Q8IX94 (reviewed: Q8IX94)

All UniProt accessions (1): Q8IX94

UniProt curated annotations — full annotation on UniProt →

Function. Tumor-associated antigen.

Subcellular location. Membrane.

Tissue specificity. Expressed in testis, placenta and skin. Expressed at lower level in mammary gland and stomach.

Miscellaneous. Tumor-associated antigen found in several cutaneous T-cell lymphoma (CTCL). Also found in colorectal and breast carcinomas, head and neck squamous cell carcinomas and melanoma.

Similarity. Belongs to the cTAGE family.

RefSeq proteins (1): NP_940897* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051500	cTAGE_MIA/OTOR	Family

UniProt features (15 total): sequence conflict 6, compositionally biased region 3, region of interest 2, coiled-coil region 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IX94-F1	69.58	0.44

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 35 (showing top): GCANCTGNY_MYOD_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, NFKB_Q6, NFKB_C, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, FREAC3_01, WTGAAAT_UNKNOWN, GOBP_SECRETION, HNF1_01, chr7q35, TGGAAA_NFAT_Q4_01, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOBP_GOLGI_VESICLE_TRANSPORT, GOBP_VESICLE_CARGO_LOADING

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

407 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CTAGE4	PREB	Q9HCU5	209
CTAGE4	FCHSD2	O94868	184
CTAGE4	BROX	Q5VW32	183
CTAGE4	SHISA4	Q96DD7	166
CTAGE4	SURF4	O15260	166
CTAGE4	SEC13	P55735	166
CTAGE4	NOLC1	Q14978	161
CTAGE4	HPS6	Q86YV9	160
CTAGE4	SEC24B	O95487	160
CTAGE4	SEC23A	Q15436	157
CTAGE4	SEC23B	Q15437	157
CTAGE4	LMAN1	P49257	155
CTAGE4	SH3GL2	Q99962	155
CTAGE4	H1-3	P16402	154
CTAGE4	HIC1	Q14526	154
CTAGE4	SYNJ2	O15056	154
CTAGE4	SEC31B	Q9NQW1	154

IntAct

0 interactions, top by confidence:

BioGRID (13): CTAGE8 (Affinity Capture-MS), CTAGE8 (Affinity Capture-MS), MIA3 (Cross-Linking-MS (XL-MS)), CTAGE1 (Cross-Linking-MS (XL-MS)), MIA2 (Cross-Linking-MS (XL-MS)), CTAGE1 (Cross-Linking-MS (XL-MS)), MIA2 (Cross-Linking-MS (XL-MS)), CTAGE8 (Cross-Linking-MS (XL-MS)), CTAGE8 (Cross-Linking-MS (XL-MS)), ALB (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS)), CTAGE8 (Cross-Linking-MS (XL-MS)), CTAGE8 (Proximity Label-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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	66
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	Pathogenic

SpliceAI

20 predictions. Top by Δscore:

Variant	Effect	Δscore
7:144183635:G:GA	donor_gain	0.5800
7:144183601:A:G	donor_gain	0.4900
7:144183586:A:T	donor_gain	0.4500
7:144183639:T:A	donor_gain	0.4300
7:144183634:T:A	donor_gain	0.3400
7:144183634:T:TA	donor_gain	0.3300
7:144183587:GA:G	donor_gain	0.3200
7:144185374:AAAG:A	acceptor_gain	0.3100
7:144185555:T:A	acceptor_gain	0.3000
7:144183632:GGTG:G	donor_gain	0.2700
7:144183633:GTGG:G	donor_gain	0.2700
7:144183633:GTG:G	donor_gain	0.2400
7:144183681:T:TA	acceptor_gain	0.2400
7:144185373:CAA:C	acceptor_gain	0.2400
7:144185374:AAA:A	acceptor_gain	0.2400
7:144183588:A:AG	donor_gain	0.2200
7:144183589:G:GG	donor_gain	0.2200
7:144185552:T:TA	acceptor_gain	0.2100
7:144185374:AAAGG:A	acceptor_gain	0.2000
7:144185463:GA:G	donor_gain	0.2000

AlphaMissense

5113 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:144184642:T:C	L380P	0.928
7:144184654:T:C	L384P	0.926
7:144184074:G:C	A191P	0.911
7:144183769:A:T	K89I	0.897
7:144184137:G:C	A212P	0.889
7:144183654:G:A	G51R	0.887
7:144183654:G:C	G51R	0.887
7:144183687:A:C	S62R	0.881
7:144183689:T:A	S62R	0.881
7:144183689:T:G	S62R	0.881
7:144184930:T:C	L476P	0.880
7:144184579:T:C	L359P	0.877
7:144183907:T:C	L135P	0.870
7:144184908:G:C	A469P	0.868
7:144184558:T:C	L352P	0.866
7:144183655:G:A	G51E	0.864
7:144184917:G:C	A472P	0.864
7:144184822:T:C	L440P	0.840
7:144183778:T:C	L92P	0.833
7:144184044:T:C	S181P	0.820
7:144183949:T:C	L149P	0.815
7:144184912:G:C	R470P	0.809
7:144184812:G:C	A437P	0.792
7:144184648:A:C	Q382P	0.789
7:144183728:G:C	E75D	0.788
7:144183728:G:T	E75D	0.788
7:144183928:T:C	L142P	0.788
7:144184054:T:C	L184P	0.785
7:144183757:T:C	L85P	0.779
7:144184159:T:C	L219P	0.778

dbSNP variants (sampled 300 via entrez): RS1012661822 (7:144182953 AG>A), RS1020283919 (7:144184253 C>T), RS1023598923 (7:144182962 C>G), RS1025836438 (7:144183448 C>T), RS1045104352 (7:144186477 T>A), RS1048321 (7:144185604 A>C,G,T), RS1056425905 (7:144186341 G>C,T), RS1056769748 (7:144181652 G>A,C), RS1156335891 (7:144186303 A>C), RS1157307913 (7:144181791 T>A), RS1157468422 (7:144183095 T>C), RS1157560051 (7:144185476 C>T), RS1157765645 (7:144182225 G>A), RS1157910141 (7:144185803 C>A,G,T), RS1157974558 (7:144182364 CAGAT>C)

Disease associations

OMIM: gene MIM:608910 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010136_23	Fruit consumption	5.000000e-08
GCST010136_24	Fruit consumption	1.000000e-48

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
licochalcone B	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Catechin	decreases expression, affects cotreatment	1
Cisplatin	affects response to substance	1
Smoke	decreases expression	1
Valproic Acid	increases expression	1
Aflatoxin B1	decreases methylation	1
Lithium Chloride	increases expression	1

Clinical trials (associated diseases)

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