TEX48

Summary

TEX48 (testis expressed 48, HGNC:52393) is a protein-coding gene on chromosome 9q32, encoding Testis-expressed protein 48 (A0A1B0GUV7).

At a glance

• MANE Select transcript: NM_001199233

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52393
Approved symbol	TEX48
Name	testis expressed 48
Location	9q32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000230601
Ensembl biotype	protein_coding
Entrez	100505478

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000436752, ENST00000612244

RefSeq mRNA: 2 — MANE Select: NM_001199233 NM_001199233, NM_001371884

CCDS: CCDS83406

Canonical transcript exons

ENST00000436752 — 5 exons

Exon	Start	End
ENSE00001634291	114666434	114666746
ENSE00003738029	114671383	114671505
ENSE00003742884	114671720	114671827
ENSE00003800830	114668206	114668337
ENSE00003896763	114682035	114682192

Expression profiles

Bgee: expression breadth broad, 76 present calls, max score 96.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0761 / max 25.2608, expressed in 29 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102172	0.0564	26
102171	0.0197	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	96.91	silver quality
cardiac muscle of right atrium	UBERON:0003379	95.32	silver quality
left ventricle myocardium	UBERON:0006566	95.27	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.06	gold quality
superficial temporal artery	UBERON:0001614	92.44	silver quality
mucosa of paranasal sinus	UBERON:0005030	92.27	silver quality
lower lobe of lung	UBERON:0008949	87.12	silver quality
epithelial cell of pancreas	CL:0000083	87.09	silver quality
gingival epithelium	UBERON:0001949	86.56	silver quality
cardia of stomach	UBERON:0001162	86.27	silver quality
sperm	CL:0000019	85.44	silver quality
left testis	UBERON:0004533	85.37	gold quality
right testis	UBERON:0004534	85.04	gold quality
ventral tegmental area	UBERON:0002691	83.85	silver quality
myocardium	UBERON:0002349	83.35	silver quality
testis	UBERON:0000473	82.88	gold quality
epithelium of nasopharynx	UBERON:0001951	82.84	silver quality
upper arm skin	UBERON:0004263	82.42	gold quality
saphenous vein	UBERON:0007318	81.55	silver quality
subthalamic nucleus	UBERON:0001906	81.46	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	81.26	silver quality
dorsal plus ventral thalamus	UBERON:0001897	81.14	silver quality
pericardium	UBERON:0002407	80.78	silver quality
vena cava	UBERON:0004087	80.71	gold quality
trachea	UBERON:0003126	80.64	silver quality
dorsal root ganglion	UBERON:0000044	80.60	silver quality
gingiva	UBERON:0001828	80.31	gold quality
superior vestibular nucleus	UBERON:0007227	79.95	silver quality
medulla oblongata	UBERON:0001896	79.64	silver quality
cerebellar vermis	UBERON:0004720	79.11	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-99795	no	5.35
E-ANND-3	no	1.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting TEX48, 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-1236-3P	99.94	68.04	1695
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-891A-3P	98.05	67.99	970
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-3189-5P	97.55	66.71	655
HSA-MIR-3139	96.68	66.77	652
HSA-MIR-28-5P	96.16	66.12	579
HSA-MIR-708-5P	96.16	66.12	576

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tex48	ENSMUSG00000058935
rattus_norvegicus	Tex48	ENSRNOG00000066054

Protein

Protein identifiers

Testis-expressed protein 48 — A0A1B0GUV7 (reviewed: A0A1B0GUV7)

All UniProt accessions (2): A0A1B0GUM3, A0A1B0GUV7

RefSeq proteins (2): NP_001186162, NP_001358813 (=MANE)

Domains & families (InterPro)

UniProt features (4 total): compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUV7-F1	52.86	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 22 (showing top): DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, IGLV5_37_TARGET_GENES, TOP2B_TARGET_GENES, MIR24_3P, GSE13485_CTRL_VS_DAY1_YF17D_VACCINE_PBMC_DN, HBZ_TARGET_GENES, BPTF_TARGET_GENES, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_0.5H_ACT_CD4_TCELL_DN, chr9q32, GSE9037_WT_VS_IRAK4_KO_BMDM_DN, GSE2770_TGFB_AND_IL4_VS_IL4_TREATED_ACT_CD4_TCELL_2H_UP, GSE1112_OT1_CD8AB_VS_HY_CD8AA_THYMOCYTE_RTOC_CULTURE_DN

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

2234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEX48	TEX53	A0A1B0GU33	843
TEX48	TEX19	Q8NA77	571
TEX48	RLN1	P04808	475
TEX48	ODF2	Q5BJF6	420
TEX48	DMRT3	Q9NQL9	417
TEX48	RLN2	P04090	379
TEX48	TXNDC8	Q6A555	348
TEX48	YARS1	P54577	342
TEX48	FAU	P35544	335
TEX48	EPRS1	P07814	322
TEX48	DMRT1	Q9Y5R6	290
TEX48	AQP7	O14520	288
TEX48	MRPL32	Q9BYC8	281
TEX48	RPL19	P14118	281
TEX48	RPL35	P42766	281
TEX48	RPS11	P04643	281
TEX48	RPS3	P23396	281
TEX48	RPL5	P46777	281

IntAct

10 interactions, top by confidence:

A	B	Type	Score
FNDC3B	TEX48	psi-mi:“MI:0915”(physical association)	0.560
TEX48	MESD	psi-mi:“MI:0915”(physical association)	0.560
TEX48	FNDC3B	psi-mi:“MI:0915”(physical association)	0.560
TEX48	ZNF441	psi-mi:“MI:0915”(physical association)	0.560
TEX48	MESD	psi-mi:“MI:0915”(physical association)	0.000
ZNF441	TEX48	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A0A1B0GU33, A0A1B0GUV7, A6NGY3, A6ZT44, F5HHT4, G2TRR6, H3BU77, O13894, O54835, O89085, P0C2W9, P0C6G1, P0C6G2, P0C6G3, P0C6G4, P0C6G5, P0C733, P0DON5, P0DON6, P14976, P16722, P27262, P27271, P28979, P29887, P38612, P38839, Q05105, Q08588, Q1KN14, Q1KN19, Q1X6Y3, Q1X6Y4, Q1X6Z0, Q2YDL7, Q5R5R7, Q5ZK14, Q67621, Q6W0C5, Q88891

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

799 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:114666715:A:C	F97L	0.917
9:114666715:A:T	F97L	0.917
9:114666717:A:G	F97L	0.917
9:114666670:G:C	F112L	0.893
9:114666670:G:T	F112L	0.893
9:114666672:A:G	F112L	0.893
9:114666709:C:A	K99N	0.881
9:114666709:C:G	K99N	0.881
9:114666676:C:A	W110C	0.879
9:114666676:C:G	W110C	0.879
9:114666706:T:A	R100S	0.847
9:114666706:T:G	R100S	0.847
9:114666663:A:G	C115R	0.825
9:114666678:A:G	W110R	0.815
9:114666678:A:T	W110R	0.815
9:114666661:G:C	C115W	0.804
9:114671474:G:C	F12L	0.795
9:114671474:G:T	F12L	0.795
9:114671476:A:G	F12L	0.795
9:114668210:A:C	F85L	0.789
9:114668210:A:T	F85L	0.789
9:114668212:A:G	F85L	0.789
9:114671467:A:G	C15R	0.775
9:114666662:C:G	C115S	0.772
9:114666663:A:T	C115S	0.772
9:114666654:C:A	G118W	0.764
9:114671465:G:C	C15W	0.745
9:114671462:G:C	C16W	0.740
9:114671478:A:G	I11T	0.723
9:114666710:T:A	K99M	0.721

dbSNP variants (sampled 300 via entrez): RS1000039948 (9:114670628 G>A), RS1000255419 (9:114683273 C>T), RS1000292173 (9:114683061 G>A), RS1000653451 (9:114676332 GTT>G,GT,GTTT), RS1000719691 (9:114683013 G>C), RS1000858669 (9:114672652 C>T), RS1000987240 (9:114678819 G>A), RS1001290374 (9:114681801 G>A), RS1001290849 (9:114672357 T>C), RS1001614803 (9:114670015 A>T), RS1001813013 (9:114671243 A>C,T), RS1001950342 (9:114671567 G>A), RS1001987949 (9:114677167 G>A), RS1002090562 (9:114677471 C>T), RS1002241755 (9:114682390 CAG>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)

Clinical trials (associated diseases)

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