TEX44

Summary

TEX44 (testis expressed 44, HGNC:28563) is a protein-coding gene on chromosome 2q37.1, encoding Testis-expressed protein 44 (Q53QW1).

Located in cytoplasm.

Source: NCBI Gene 165100 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_152614

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28563
Approved symbol	TEX44
Name	testis expressed 44
Location	2q37.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC35154
Ensembl gene	ENSG00000177673
Ensembl biotype	protein_coding
Entrez	165100

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000313965

RefSeq mRNA: 1 — MANE Select: NM_152614 NM_152614

CCDS: CCDS2487

Canonical transcript exons

ENST00000313965 — 1 exons

Exon	Start	End
ENSE00001271796	231592864	231594276

Expression profiles

Bgee: expression breadth broad, 41 present calls, max score 96.18.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3980 / max 408.2319, expressed in 5 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25910	0.3780	4
25909	0.0200	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	96.18	gold quality
right testis	UBERON:0004534	96.08	gold quality
testis	UBERON:0000473	92.85	gold quality
sperm	CL:0000019	91.33	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.17	gold quality
adult organism	UBERON:0007023	79.51	gold quality
buccal mucosa cell	CL:0002336	75.01	gold quality
upper arm skin	UBERON:0004263	72.03	gold quality
pancreatic ductal cell	CL:0002079	71.56	silver quality
epithelial cell of pancreas	CL:0000083	69.31	gold quality
tendon of biceps brachii	UBERON:0008188	67.90	gold quality
kidney epithelium	UBERON:0004819	66.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	65.77	gold quality
left ventricle myocardium	UBERON:0006566	65.52	gold quality
myocardium	UBERON:0002349	64.31	gold quality
parotid gland	UBERON:0001831	62.46	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	62.38	gold quality
nasal cavity epithelium	UBERON:0005384	60.45	gold quality
medial globus pallidus	UBERON:0002477	60.18	gold quality
esophagus squamous epithelium	UBERON:0006920	58.50	gold quality
epithelium of nasopharynx	UBERON:0001951	58.38	gold quality
globus pallidus	UBERON:0001875	58.19	gold quality
vena cava	UBERON:0004087	57.77	gold quality
oral cavity	UBERON:0000167	57.41	gold quality
biceps brachii	UBERON:0001507	56.82	gold quality
trabecular bone tissue	UBERON:0002483	56.36	gold quality
endothelial cell	CL:0000115	56.33	gold quality
mammalian vulva	UBERON:0000997	55.63	gold quality
quadriceps femoris	UBERON:0001377	55.59	gold quality
gingiva	UBERON:0001828	55.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	32.30
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting TEX44, 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-137-3P	99.87	74.74	2401
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-1275	99.47	67.90	2749

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tex44	ENSMUSG00000036574
rattus_norvegicus	Tex44	ENSRNOG00000018559

Protein

Protein identifiers

Testis-expressed protein 44 — Q53QW1 (reviewed: Q53QW1)

All UniProt accessions (1): Q53QW1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Tissue specificity. Testis. Detected in germ cells at all stages of the seminiferous epithelium, strong expression in elongating spermatids (at protein level).

RefSeq proteins (1): NP_689827* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031460	DUF4678	Family

Pfam: PF15727

UniProt features (13 total): region of interest 4, sequence variant 4, compositionally biased region 3, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53QW1-F1	47.85	0.01

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 (1): 333

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 16 (showing top): TCF11_01, TGACATY_UNKNOWN, GSE13485_CTRL_VS_DAY1_YF17D_VACCINE_PBMC_DN, chr2q37, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_12H_ACT_CD4_TCELL_UP, GSE27786_LSK_VS_LIN_NEG_CELL_DN, GSE8921_UNSTIM_0H_VS_TLR1_2_STIM_MONOCYTE_3H_DN, GSE21546_WT_VS_SAP1A_KO_ANTI_CD3_STIM_DP_THYMOCYTES_DN, GSE21546_UNSTIM_VS_ANTI_CD3_STIM_ELK1_KO_DP_THYMOCYTES_UP, GSE21546_UNSTIM_VS_ANTI_CD3_STIM_SAP1A_KO_AND_ELK1_KO_DP_THYMOCYTES_UP, GSE25088_CTRL_VS_IL4_STIM_STAT6_KO_MACROPHAGE_UP, GSE25502_WT_VS_KLF13_KO_THYMIC_MEMORY_LIKE_CD8_TCELL_DN, GSE32533_MIR17_KO_VS_MIR17_OVEREXPRESS_ACT_CD4_TCELL_DN, GSE40274_LEF1_VS_FOXP3_AND_LEF1_TRANSDUCED_ACTIVATED_CD4_TCELL_DN, GSE28737_BCL6_HET_VS_BCL6_KO_MARGINAL_ZONE_BCELL_UP

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

162 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEX44	SPMIP9	Q96LM6	667
TEX44	MROH2A	A6NES4	604
TEX44	FAM177B	A6PVY3	583
TEX44	FBXO36	Q8NEA4	568
TEX44	SPATA3	Q8NHX4	530
TEX44	GPR157	Q5UAW9	478
TEX44	NAA11	Q9BSU3	467
TEX44	EFHD1	Q9BUP0	421
TEX44	PDE6D	O43924	413
TEX44	TRIP12	Q14669	409
TEX44	NXNL1	Q96CM4	400
TEX44	GTF2H2C	Q6P1K8	395
TEX44	WDR74	Q6RFH5	392
TEX44	FUBP3	Q96I24	370
TEX44	FNDC7	Q5VTL7	367

IntAct

44 interactions, top by confidence:

A	B	Type	Score
TEX44	CPT1B	psi-mi:“MI:0915”(physical association)	0.720
TIMM17B	TEX44	psi-mi:“MI:0915”(physical association)	0.560
TEX44	MICOS13	psi-mi:“MI:0915”(physical association)	0.560
APOC1	TEX44	psi-mi:“MI:0915”(physical association)	0.560
MPC2	TEX44	psi-mi:“MI:0915”(physical association)	0.560
TEX44	CIDEB	psi-mi:“MI:0915”(physical association)	0.560
TEX44	C3orf33	psi-mi:“MI:0915”(physical association)	0.560
TEX44	RHBDD2	psi-mi:“MI:0915”(physical association)	0.560
TEX44	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
TEX44	DERL1	psi-mi:“MI:0915”(physical association)	0.560
SYPL1	TEX44	psi-mi:“MI:0915”(physical association)	0.560
TEX44	COX20	psi-mi:“MI:0915”(physical association)	0.560
CPT1B	TEX44	psi-mi:“MI:0915”(physical association)	0.000
TEX44	TIMM17B	psi-mi:“MI:0915”(physical association)	0.000
TEX44	MICOS13	psi-mi:“MI:0915”(physical association)	0.000
TEX44	APOC1	psi-mi:“MI:0915”(physical association)	0.000
TEX44	MPC2	psi-mi:“MI:0915”(physical association)	0.000
TEX44	CIDEB	psi-mi:“MI:0915”(physical association)	0.000
TEX44	C3orf33	psi-mi:“MI:0915”(physical association)	0.000
TEX44	TMEM14B	psi-mi:“MI:0915”(physical association)	0.000
TEX44	DERL1	psi-mi:“MI:0915”(physical association)	0.000
TEX44	SYPL1	psi-mi:“MI:0915”(physical association)	0.000
TEX44	RHBDD2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), C2orf57 (Two-hybrid), COX20 (Two-hybrid), CPT1B (Two-hybrid), APP (Reconstituted Complex)

ESM2 similar proteins: A0A0D1DRJ3, A0A3G1DJJ7, A1A5P0, C5DF10, E9PSU6, F5HDE4, O13412, O13415, O35147, O74428, O74461, O74504, P08318, P09272, P09310, P09512, P10471, P11625, P17523, P17524, P34469, P40572, P40688, P41884, P43598, Q01582, Q02362, Q06428, Q17QW1, Q18LF8, Q32LJ5, Q4JQW6, Q53QW1, Q61337, Q6DR24, Q6SW99, Q751K7, Q75BH9, Q75BX3, Q75DQ4

Diamond homologs: Q53QW1, Q5U2Y8, Q9DA60

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

87 predictions. Top by Δscore:

Variant	Effect	Δscore
2:231593589:A:G	donor_gain	0.9600
2:231593541:C:G	donor_gain	0.6700
2:231593588:GA:G	donor_gain	0.6400
2:231593573:G:GT	donor_gain	0.6300
2:231593764:C:G	donor_gain	0.5800
2:231593589:A:AG	donor_gain	0.5600
2:231593567:G:GT	donor_gain	0.5100
2:231593832:T:A	donor_gain	0.4700
2:231593857:C:T	donor_gain	0.4700
2:231593798:G:T	donor_gain	0.4600
2:231593955:TGGG:T	donor_gain	0.4500
2:231593841:C:A	donor_gain	0.4400
2:231593958:G:T	donor_gain	0.4400
2:231593571:C:G	donor_gain	0.4300
2:231593836:G:A	donor_gain	0.4300
2:231593750:A:AG	donor_gain	0.4200
2:231593751:G:GG	donor_gain	0.4200
2:231593956:GGGA:G	donor_gain	0.4100
2:231593800:C:T	donor_gain	0.3700
2:231593837:T:A	donor_gain	0.3700
2:231593959:A:T	donor_gain	0.3700
2:231593957:G:A	donor_gain	0.3600
2:231593482:TGCC:T	donor_gain	0.3500
2:231593756:G:T	donor_gain	0.3500
2:231593828:ATCCT:A	donor_gain	0.3400
2:231593952:T:A	donor_gain	0.3400
2:231593920:C:G	donor_gain	0.3300
2:231593958:G:GT	donor_gain	0.3300
2:231593988:T:A	acceptor_gain	0.3300
2:231593529:C:G	donor_gain	0.3200

AlphaMissense

2579 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:231594074:G:C	A375P	0.942
2:231594075:C:A	A375D	0.926
2:231593826:A:T	D292V	0.922
2:231594062:G:C	G371R	0.909
2:231593783:A:C	S278R	0.906
2:231593785:C:A	S278R	0.906
2:231593785:C:G	S278R	0.906
2:231593837:T:A	W296R	0.896
2:231593837:T:C	W296R	0.896
2:231594045:A:T	E365V	0.889
2:231593839:G:C	W296C	0.887
2:231593839:G:T	W296C	0.887
2:231594087:T:C	L379P	0.879
2:231594046:G:C	E365D	0.854
2:231594046:G:T	E365D	0.854
2:231593770:G:A	M273I	0.846
2:231593770:G:C	M273I	0.846
2:231593770:G:T	M273I	0.846
2:231594066:T:C	I372T	0.837
2:231594033:T:C	L361P	0.826
2:231593844:A:T	E298V	0.822
2:231593825:G:C	D292H	0.807
2:231593827:C:A	D292E	0.804
2:231593827:C:G	D292E	0.804
2:231593868:C:A	A306D	0.804
2:231593825:G:T	D292Y	0.802
2:231593829:T:C	I293T	0.801
2:231593826:A:C	D292A	0.792
2:231594069:G:C	R373P	0.789
2:231594066:T:G	I372S	0.788

dbSNP variants (sampled 300 via entrez): RS1000791595 (2:231591061 C>A), RS1000938276 (2:231591211 G>A,C), RS1000977112 (2:231591736 T>C), RS1003037931 (2:231592677 A>G), RS1003862606 (2:231591439 T>C), RS1004562786 (2:231593269 A>G), RS1005545371 (2:231592535 A>C), RS1006665261 (2:231592941 C>G,T), RS1007046815 (2:231594528 G>T), RS1008381030 (2:231594173 A>C), RS1008908278 (2:231592039 T>C), RS1009611058 (2:231591750 G>A,C), RS1013310798 (2:231590920 G>A,C), RS1015201882 (2:231591228 C>T), RS1015399774 (2:231592045 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
GCST012490_621	Femur bone mineral density x serum urate levels interaction	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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