TEX2

Summary

TEX2 (testis expressed 2, HGNC:30884) is a protein-coding gene on chromosome 17q23.3, encoding Testis-expressed protein 2 (Q8IWB9). During endoplasmic reticulum (ER) stress or when cellular ceramide levels increase, may induce contacts between the ER and medial-Golgi complex to facilitate non-vesicular transport of ceramides from the ER to the Golgi complex where they are converted to complex sphingolipids,….

Predicted to enable lipid binding activity. Predicted to be involved in signal transduction and sphingolipid metabolic process. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum.

Source: NCBI Gene 55852 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 180 total
• MANE Select transcript: NM_001288732

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30884
Approved symbol	TEX2
Name	testis expressed 2
Location	17q23.3
Locus type	gene with protein product
Status	Approved
Aliases	HT008, TMEM96, KIAA1738
Ensembl gene	ENSG00000136478
Ensembl biotype	protein_coding
OMIM	619929
Entrez	55852

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 26 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000258991, ENST00000577489, ENST00000581812, ENST00000583097, ENST00000583501, ENST00000583738, ENST00000583922, ENST00000584379, ENST00000584498, ENST00000893369, ENST00000893370, ENST00000893371, ENST00000893372, ENST00000893373, ENST00000893374, ENST00000893375, ENST00000893376, ENST00000933535, ENST00000933536, ENST00000933537, ENST00000933538, ENST00000968905, ENST00000968906, ENST00000968907, ENST00000968908, ENST00000968909, ENST00000968910, ENST00000968911, ENST00000968912

RefSeq mRNA: 3 — MANE Select: NM_001288732 NM_001288732, NM_001288733, NM_018469

CCDS: CCDS11658, CCDS74131

Canonical transcript exons

ENST00000584379 — 12 exons

Exon	Start	End
ENSE00000742443	64150841	64150961
ENSE00000947953	64147227	64149091
ENSE00001105460	64194895	64195095
ENSE00001105464	64193559	64193889
ENSE00001105473	64160801	64160933
ENSE00001303179	64263168	64263260
ENSE00001324420	64212574	64214242
ENSE00002687435	64188168	64188415
ENSE00003491613	64154842	64154967
ENSE00003498162	64152945	64153154
ENSE00003602272	64171100	64171199
ENSE00003618701	64177325	64177471

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 96.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.0555 / max 153.3734, expressed in 1789 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167565	13.7118	1785
167560	0.7037	434
167564	0.3259	137
167559	0.2181	95
167566	0.0534	13
167563	0.0278	6
167561	0.0148	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	96.70	gold quality
pigmented layer of retina	UBERON:0001782	96.27	gold quality
retina	UBERON:0000966	96.24	gold quality
globus pallidus	UBERON:0001875	96.08	gold quality
sperm	CL:0000019	95.79	gold quality
male germ cell	CL:0000015	95.59	gold quality
dorsal root ganglion	UBERON:0000044	93.88	gold quality
right coronary artery	UBERON:0001625	93.68	gold quality
subthalamic nucleus	UBERON:0001906	93.53	gold quality
secondary oocyte	CL:0000655	93.46	gold quality
trigeminal ganglion	UBERON:0001675	93.07	gold quality
lateral globus pallidus	UBERON:0002476	92.96	gold quality
inferior vagus X ganglion	UBERON:0005363	92.95	gold quality
pons	UBERON:0000988	92.70	gold quality
substantia nigra	UBERON:0002038	92.57	gold quality
midbrain	UBERON:0001891	92.47	gold quality
spinal cord	UBERON:0002240	92.43	gold quality
gastrocnemius	UBERON:0001388	92.39	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.37	gold quality
superior vestibular nucleus	UBERON:0007227	92.35	gold quality
decidua	UBERON:0002450	92.34	gold quality
tibialis anterior	UBERON:0001385	92.33	gold quality
muscle of leg	UBERON:0001383	92.22	gold quality
corpus callosum	UBERON:0002336	92.13	gold quality
oocyte	CL:0000023	92.12	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.95	gold quality
putamen	UBERON:0001874	91.78	gold quality
medulla oblongata	UBERON:0001896	91.76	gold quality
substantia nigra pars reticulata	UBERON:0001966	91.70	gold quality
skeletal muscle organ	UBERON:0014892	91.62	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.42
E-CURD-11	no	116.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

89 targeting TEX2, 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-4692	100.00	67.32	2066
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-4753-3P	99.90	71.03	3786

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tex2	ENSDARG00000078186
mus_musculus	Tex2	ENSMUSG00000040548
rattus_norvegicus	Tex2	ENSRNOG00000013659
drosophila_melanogaster	CG43783	FBGN0264305
caenorhabditis_elegans		WBGENE00018872

Protein

Protein identifiers

Testis-expressed protein 2 — Q8IWB9 (reviewed: Q8IWB9)

Alternative names: Transmembrane protein 96

All UniProt accessions (4): Q8IWB9, J3KRY2, J3KRZ8, J3QKY0

UniProt curated annotations — full annotation on UniProt →

Function. During endoplasmic reticulum (ER) stress or when cellular ceramide levels increase, may induce contacts between the ER and medial-Golgi complex to facilitate non-vesicular transport of ceramides from the ER to the Golgi complex where they are converted to complex sphingolipids, preventing toxic ceramide accumulation.

Subcellular location. Endoplasmic reticulum membrane. Nucleus membrane.

Domain organisation. The SMP-LTD domain is a barrel-like domain that can bind various types of glycerophospholipids in its interior and mediate their transfer between two adjacent bilayers.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IWB9-1	1	yes
Q8IWB9-2	2

RefSeq proteins (3): NP_001275661, NP_001275662, NP_060939 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031468	SMP_LBD	Domain

UniProt features (42 total): modified residue 13, sequence conflict 8, region of interest 7, compositionally biased region 7, transmembrane region 2, chain 1, domain 1, glycosylation site 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWB9-F1	56.27	0.13

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 (13): 196, 262, 265, 266, 270, 295, 732, 738, 744, 748, 751, 798, 815

Glycosylation sites (1): 330

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 199 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GCACCTT_MIR18A_MIR18B, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, MITSIADES_RESPONSE_TO_APLIDIN_DN, SREBP1_02, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, TGACATY_UNKNOWN, GOBP_LIPID_METABOLIC_PROCESS, CUI_TCF21_TARGETS_2_DN, GOBP_MEMBRANE_LIPID_METABOLIC_PROCESS, GOBP_LIPID_LOCALIZATION, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, AP2_Q6_01

GO Biological Process (3): sphingolipid metabolic process (GO:0006665), lipid transport (GO:0006869), signal transduction (GO:0007165)

GO Molecular Function (1): lipid binding (GO:0008289)

GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), nuclear membrane (GO:0031965), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
organelle membrane	2
lipid metabolic process	1
transport	1
lipid localization	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
binding	1
cytoplasm	1
endomembrane system	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
nucleus	1
nuclear envelope	1

Protein interactions and networks

STRING

910 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEX2	THOC3	Q96J01	670
TEX2	PDZD8	Q8NEN9	530
TEX2	NCKAP5L	Q9HCH0	509
TEX2	TEX26	Q8N6G2	507
TEX2	TEX22	C9J3V5	504
TEX2	LRRC40	Q9H9A6	504
TEX2	TTC7B	Q86TV6	475
TEX2	SYNGR1	O43759	471
TEX2	ITPRID2	P28290	469
TEX2	IZUMO4	Q1ZYL8	464
TEX2	PI4KA	P42356	458
TEX2	ARV1	Q9H2C2	457
TEX2	NKIRAS1	Q9NYS0	456
TEX2	VWC2L	B2RUY7	451
TEX2	C2CD2L	O14523	447

IntAct

44 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
MRAP2	GOLIM4	psi-mi:“MI:0914”(association)	0.530
TEX2	ECE1	psi-mi:“MI:0915”(physical association)	0.370
M		psi-mi:“MI:0914”(association)	0.350
MYC		psi-mi:“MI:0914”(association)	0.350
COPE	ESYT2	psi-mi:“MI:0914”(association)	0.350
RTN4	ESYT2	psi-mi:“MI:0914”(association)	0.350
VAPA	ESYT2	psi-mi:“MI:0914”(association)	0.350
TTMP	TMEM223	psi-mi:“MI:0914”(association)	0.350
FAXC	METTL15	psi-mi:“MI:0914”(association)	0.350
SLC6A15	GPR89A	psi-mi:“MI:0914”(association)	0.350
MARCHF1	STXBP3	psi-mi:“MI:0914”(association)	0.350
SLC6A20	TLCD2	psi-mi:“MI:0914”(association)	0.350
OR10H2	ABCD4	psi-mi:“MI:0914”(association)	0.350
RTN3	ESYT2	psi-mi:“MI:0914”(association)	0.350
SDC2	ELAPOR2	psi-mi:“MI:0914”(association)	0.350
ATP2A3	UBXN8	psi-mi:“MI:0914”(association)	0.350
FAXC	POLRMT	psi-mi:“MI:0914”(association)	0.350
F2RL1	TNPO2	psi-mi:“MI:0914”(association)	0.350
RTN4	SCAMP1	psi-mi:“MI:0914”(association)	0.350
EFNB2	TCAF2	psi-mi:“MI:0914”(association)	0.350
FAXC	HAT1	psi-mi:“MI:0914”(association)	0.350
GDPD5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HTR2C	HAT1	psi-mi:“MI:0914”(association)	0.350
MRAP2	A2ML1	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	IPO5	psi-mi:“MI:0914”(association)	0.350
SLC16A5	NDUFB3	psi-mi:“MI:0914”(association)	0.350

BioGRID (225): TEX2 (Proximity Label-MS), TEX2 (Proximity Label-MS), TEX2 (Affinity Capture-MS), TEX2 (Affinity Capture-MS), TEX2 (Affinity Capture-MS), TEX2 (Affinity Capture-RNA), TEX2 (Proximity Label-MS), TEX2 (Proximity Label-MS), TEX2 (Affinity Capture-RNA), TEX2 (Affinity Capture-MS), TEX2 (Proximity Label-MS), TEX2 (Proximity Label-MS), TEX2 (Proximity Label-MS), TEX2 (Proximity Label-MS), TEX2 (Proximity Label-MS)

ESM2 similar proteins: A0A0R4IXF6, A0JMR6, A0JNW5, A2RSJ4, F4HRV8, O17482, O95876, P49021, P79457, Q08D51, Q28C33, Q3B7T1, Q3UD82, Q498F0, Q5H8C4, Q5JSH3, Q5JTW2, Q5QNQ6, Q5R9R1, Q5THJ4, Q5ZLG9, Q6BDS2, Q6GLR7, Q6GQV7, Q6INA9, Q6NRZ1, Q6NVE8, Q6ZMT4, Q6ZWJ1, Q709C8, Q80T23, Q80XK6, Q812E4, Q8BX70, Q8BXR9, Q8C5W4, Q8IWB9, Q8N3A8, Q8N7X0, Q8TDW5

Diamond homologs: Q6ZPJ0, Q8IWB9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	145
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2396 predictions. Top by Δscore:

Variant	Effect	Δscore
17:64150835:GTTTA:G	donor_loss	1.0000
17:64150836:TTTA:T	donor_loss	1.0000
17:64150837:TTACC:T	donor_loss	1.0000
17:64150838:TA:T	donor_loss	1.0000
17:64150839:A:AT	donor_loss	1.0000
17:64150840:C:CT	donor_loss	1.0000
17:64154840:AC:A	donor_gain	1.0000
17:64154841:CC:C	donor_gain	1.0000
17:64177319:TGATA:T	donor_loss	1.0000
17:64177320:GATAC:G	donor_loss	1.0000
17:64177321:ATAC:A	donor_loss	1.0000
17:64177322:TA:T	donor_loss	1.0000
17:64177324:CCTT:C	donor_loss	1.0000
17:64177469:CAA:C	acceptor_gain	1.0000
17:64177470:AA:A	acceptor_gain	1.0000
17:64177471:AC:A	acceptor_loss	1.0000
17:64177472:C:CC	acceptor_gain	1.0000
17:64177473:T:G	acceptor_loss	1.0000
17:64193744:C:A	donor_gain	1.0000
17:64193885:TAAAT:T	acceptor_gain	1.0000
17:64193886:AAAT:A	acceptor_gain	1.0000
17:64193887:AAT:A	acceptor_gain	1.0000
17:64193888:AT:A	acceptor_gain	1.0000
17:64193890:C:A	acceptor_loss	1.0000
17:64193890:C:CC	acceptor_gain	1.0000
17:64194890:CTCA:C	donor_loss	1.0000
17:64194891:TCACC:T	donor_loss	1.0000
17:64194892:CA:C	donor_loss	1.0000
17:64194893:A:T	donor_loss	1.0000
17:64195091:CATCC:C	acceptor_gain	1.0000

AlphaMissense

7386 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:64150857:A:G	L1082P	1.000
17:64150911:A:G	L1064P	1.000
17:64150953:A:G	F1050S	1.000
17:64152946:A:G	W1047R	1.000
17:64152946:A:T	W1047R	1.000
17:64152951:C:G	R1045P	1.000
17:64153011:A:T	V1025D	1.000
17:64153017:A:G	L1023P	1.000
17:64153017:A:T	L1023H	1.000
17:64153023:A:G	L1021P	1.000
17:64153059:A:C	I1009S	1.000
17:64153059:A:T	I1009N	1.000
17:64153078:C:G	A1003P	1.000
17:64153086:A:G	F1000S	1.000
17:64153104:A:C	I994S	1.000
17:64153104:A:T	I994N	1.000
17:64153113:A:T	V991D	1.000
17:64160864:A:G	L914S	1.000
17:64160882:A:G	L908P	1.000
17:64160882:A:T	L908H	1.000
17:64177338:A:G	L853P	1.000
17:64193637:A:G	W700R	1.000
17:64193637:A:T	W700R	1.000
17:64193665:A:C	F690L	1.000
17:64193665:A:T	F690L	1.000
17:64193667:A:G	F690L	1.000
17:64193834:G:T	P634H	1.000
17:64193850:A:G	W629R	1.000
17:64193850:A:T	W629R	1.000
17:64193855:C:G	R627P	1.000

dbSNP variants (sampled 300 via entrez): RS1000018271 (17:64183325 T>C), RS1000030756 (17:64239461 A>C), RS1000034265 (17:64147515 A>G), RS1000035027 (17:64177447 C>T), RS1000071050 (17:64231524 T>C), RS1000081707 (17:64195524 G>A), RS1000089524 (17:64184627 T>G), RS1000228865 (17:64237558 G>A), RS1000234516 (17:64204122 C>T), RS1000246799 (17:64158030 C>T), RS1000260339 (17:64178622 T>C), RS1000280844 (17:64159540 G>A), RS1000350111 (17:64204771 T>C), RS1000370768 (17:64250937 C>A), RS1000380610 (17:64184027 T>C)

Disease associations

OMIM: gene MIM:619929 | 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
GCST012297_4	Schizophrenia, bipolar disorder or major depressive disorder	1.000000e-06
GCST012300_7	Schizophrenia, bipolar disorder or major depressive disorder	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	4
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
coumarin	affects phosphorylation	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
bisphenol S	decreases methylation	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Caffeine	affects phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Estradiol	increases expression	1
Methapyrilene	increases methylation	1
Dihydrotestosterone	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TS13	HAP1 TEX2 (-) 1	Cancer cell line	Male
CVCL_TS14	HAP1 TEX2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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