TEX38

Summary

TEX38 (testis expressed 38, HGNC:29589) is a protein-coding gene on chromosome 1p33, encoding Testis-expressed protein 38 (Q6PEX7). Plays an essential role in male fertility.

Predicted to be located in membrane.

Source: NCBI Gene 374973 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_001145474

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29589
Approved symbol	TEX38
Name	testis expressed 38
Location	1p33
Locus type	gene with protein product
Status	Approved
Aliases	LOC374973, THEG4
Ensembl gene	ENSG00000186118
Ensembl biotype	protein_coding
OMIM	621126
Entrez	374973

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000334122, ENST00000415500, ENST00000564071, ENST00000564373

RefSeq mRNA: 3 — MANE Select: NM_001145474 NM_001145474, NM_001300863, NM_001300864

CCDS: CCDS57999, CCDS72780, CCDS72781

Canonical transcript exons

ENST00000334122 — 2 exons

Exon	Start	End
ENSE00001390579	46671854	46671971
ENSE00001952635	46672873	46673594

Expression profiles

Bgee: expression breadth ubiquitous, 142 present calls, max score 98.88.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5256 / max 477.6990, expressed in 4 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2749	0.3033	4
2751	0.1947	4
2752	0.0164	3
2750	0.0111	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.88	gold quality
right testis	UBERON:0004534	98.69	gold quality
testis	UBERON:0000473	95.70	gold quality
adult organism	UBERON:0007023	92.32	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.12	gold quality
sperm	CL:0000019	83.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.72	gold quality
bone marrow cell	CL:0002092	62.94	silver quality
tibialis anterior	UBERON:0001385	62.12	silver quality
ileal mucosa	UBERON:0000331	60.72	silver quality
pancreatic ductal cell	CL:0002079	59.70	silver quality
apex of heart	UBERON:0002098	57.13	gold quality
deltoid	UBERON:0001476	55.79	gold quality
adenohypophysis	UBERON:0002196	55.00	gold quality
right coronary artery	UBERON:0001625	54.73	gold quality
epithelial cell of pancreas	CL:0000083	54.61	gold quality
pituitary gland	UBERON:0000007	54.39	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
sural nerve	UBERON:0015488	53.43	silver quality
metanephros cortex	UBERON:0010533	53.32	gold quality
cerebellar vermis	UBERON:0004720	53.05	gold quality
islet of Langerhans	UBERON:0000006	53.04	gold quality
metanephros	UBERON:0000081	50.42	gold quality
myocardium	UBERON:0002349	50.25	gold quality
mucosa of stomach	UBERON:0001199	49.85	gold quality
cauda epididymis	UBERON:0004360	48.60	gold quality
amniotic fluid	UBERON:0000173	48.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	31.64
E-ANND-3	no	1.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting TEX38, 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-3667-3P	99.99	67.17	1636
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-6797-3P	99.17	66.94	668
HSA-MIR-6804-3P	98.72	64.82	852
HSA-MIR-6076	98.61	65.69	637
HSA-MIR-1224-3P	97.24	65.92	851

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tex38	ENSMUSG00000044556
rattus_norvegicus	Tex38	ENSRNOG00000010162

Protein

Protein identifiers

Testis-expressed protein 38 — Q6PEX7 (reviewed: Q6PEX7)

Alternative names: ATPAF1 antisense RNA 1, ATPAF1 antisense gene protein 1

All UniProt accessions (5): B7ZLT1, B7ZLT2, C9W8M6, Q6PEX7, H3BTK6

UniProt curated annotations — full annotation on UniProt →

Function. Plays an essential role in male fertility. TEX38 and ZDHHC19 form a complex in developing sperm. This complex may regulate S-palmitoylation of the proteins that are essential for generating functional sperm with the correct morphology.

Subunit / interactions. Interacts with ZDHHC19; this interaction is essential for ZDHHC19 stability and localization to the plasma membrane.

Subcellular location. Cell membrane.

RefSeq proteins (3): NP_001138946, NP_001287792, NP_001287793 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031677	TEX38	Family

Pfam: PF15834

UniProt features (4 total): sequence variant 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PEX7-F1	60.27	0.12

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 36 (showing top): KAT2A_TARGET_GENES, WDHD1_TARGET_GENES, ZNF282_TARGET_GENES, ZNF30_TARGET_GENES, ZNF436_TARGET_GENES, ZNF513_TARGET_GENES, ZNF596_TARGET_GENES, ZNF711_TARGET_GENES, ZNF768_TARGET_GENES, ZNF8_TARGET_GENES, ZNF92_TARGET_GENES, ZSCAN30_TARGET_GENES, MIR544B, GSE13306_TREG_VS_TCONV_SPLEEN_UP, GSE15659_CD45RA_NEG_CD4_TCELL_VS_NONSUPPRESSIVE_TCELL_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

262 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEX38	EFCAB14	O75071	608
TEX38	FREY1	C9JXX5	542
TEX38	OR51D1	Q8NGF3	530
TEX38	FAM194C	Q8ND61	527
TEX38	PRR30	Q53SZ7	520
TEX38	SPATA31F1	Q6ZU69	507
TEX38	CIMIP2A	Q6J272	497
TEX38	ARRDC5	A6NEK1	489
TEX38	ODF4	Q2M2E3	485
TEX38	ADAD2	Q8NCV1	472
TEX38	MEIG1	Q5JSS6	465
TEX38	LYZL6	O75951	459
TEX38	MEIKIN	A0A087WXM9	455
TEX38	FBXO47	Q5MNV8	449
TEX38	ATPAF1	Q5TC12	442

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0D9SF12, A2A8T7, A6H7E2, A6NF36, A6NFA0, A6NI87, E1C7U0, P03246, P03247, P0DO92, P14355, P14683, Q0VG49, Q1HVF6, Q32LN6, Q3KPU7, Q3KSS3, Q4V7D2, Q4ZG55, Q5DU28, Q5JX69, Q5JX71, Q5R7E2, Q5U4U4, Q642A3, Q6NRW0, Q6P1U0, Q6P4J6, Q6P9N1, Q6PEX7, Q6X4T0, Q7L3B6, Q7SYV9, Q7T346, Q80Y73, Q8BJS8, Q8CF25, Q8IWB6, Q8N6T0, Q8NCU1

Diamond homologs: A2A8T7, Q6PEX7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

420 predictions. Top by Δscore:

Variant	Effect	Δscore
1:46671972:G:GG	donor_gain	1.0000
1:46671968:GGGA:G	donor_gain	0.9900
1:46671969:G:GT	donor_gain	0.9900
1:46671969:GGA:G	donor_gain	0.9900
1:46671970:GA:G	donor_gain	0.9900
1:46671970:GAG:G	donor_gain	0.9900
1:46672942:T:A	acceptor_gain	0.9900
1:46672945:A:AG	acceptor_gain	0.9900
1:46672945:ACT:A	acceptor_gain	0.9900
1:46672945:ACTG:A	acceptor_gain	0.9900
1:46672946:C:G	acceptor_gain	0.9900
1:46672947:T:TA	acceptor_gain	0.9900
1:46671967:TGGGA:T	donor_gain	0.9800
1:46671968:GGGAG:G	donor_gain	0.9800
1:46672871:A:AG	acceptor_gain	0.9800
1:46672872:G:GG	acceptor_gain	0.9800
1:46673037:T:A	acceptor_gain	0.9800
1:46672871:AGTGT:A	acceptor_gain	0.9700
1:46672872:GTGT:G	acceptor_gain	0.9700
1:46672872:GTGTG:G	acceptor_gain	0.9700
1:46673022:A:AG	acceptor_gain	0.9700
1:46673023:G:GG	acceptor_gain	0.9700
1:46671970:GAGTA:G	donor_loss	0.9600
1:46671971:AGTA:A	donor_loss	0.9600
1:46671973:TAAGT:T	donor_loss	0.9600
1:46671974:AAGT:A	donor_loss	0.9600
1:46672865:T:A	acceptor_gain	0.9600
1:46672872:GT:G	acceptor_gain	0.9600
1:46673035:ACT:A	acceptor_gain	0.9600
1:46672948:G:A	acceptor_gain	0.9500

AlphaMissense

1344 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:46673022:A:C	S63R	0.969
1:46673024:C:A	S63R	0.969
1:46673024:C:G	S63R	0.969
1:46673013:T:C	F60L	0.944
1:46673015:C:A	F60L	0.944
1:46673015:C:G	F60L	0.944
1:46673048:G:C	K71N	0.943
1:46673048:G:T	K71N	0.943
1:46672988:G:C	W51C	0.942
1:46672988:G:T	W51C	0.942
1:46672908:T:C	C25R	0.937
1:46672902:G:A	G23R	0.935
1:46672902:G:C	G23R	0.935
1:46673283:T:C	F150L	0.927
1:46673285:T:A	F150L	0.927
1:46673285:T:G	F150L	0.927
1:46672926:G:A	G31R	0.924
1:46672926:G:C	G31R	0.924
1:46672929:T:C	C32R	0.921
1:46672927:G:A	G31E	0.907
1:46672903:G:A	G23E	0.904
1:46672890:T:C	F19L	0.895
1:46672892:T:A	F19L	0.895
1:46672892:T:G	F19L	0.895
1:46673045:C:A	N70K	0.895
1:46673045:C:G	N70K	0.895
1:46672986:T:A	W51R	0.893
1:46672986:T:C	W51R	0.893
1:46672918:T:A	I28K	0.890
1:46672924:G:A	G30E	0.871

dbSNP variants (sampled 300 via entrez): RS1000167873 (1:46673425 T>G), RS1000274259 (1:46674062 A>T), RS1000334676 (1:46669985 G>C), RS1000727481 (1:46673748 G>A), RS1001569004 (1:46667031 C>T), RS1002061756 (1:46670629 G>A), RS1002167578 (1:46672747 G>A), RS1002661658 (1:46668538 T>A,C,G), RS1003121525 (1:46671857 T>A,C), RS1003279024 (1:46672303 G>T), RS1004163867 (1:46673328 C>A,G,T), RS1004519440 (1:46669631 A>C), RS1006156660 (1:46667072 C>T), RS1006272798 (1:46667422 C>A), RS1006599292 (1:46671106 T>C)

Disease associations

OMIM: gene MIM:621126 | 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

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

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	decreases expression	1
tebuconazole	increases expression	1
Silicon Dioxide	decreases expression	1
Tretinoin	increases expression	1

Clinical trials (associated diseases)

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