TEX54

Summary

TEX54 (testis expressed 54, HGNC:53729) is a protein-coding gene on chromosome 11q12.3, encoding Testis-expressed protein 54 (A0A1B0GVG6).

At a glance

• MANE Select transcript: NM_001395459

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53729
Approved symbol	TEX54
Name	testis expressed 54
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283268
Ensembl biotype	protein_coding
Entrez	111216277

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000636508

RefSeq mRNA: 1 — MANE Select: NM_001395459 NM_001395459

CCDS: CCDS91495

Canonical transcript exons

ENST00000636508 — 1 exons

Exon	Start	End
ENSE00003800735	62832321	62832841

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 94.19.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.19	gold quality
left testis	UBERON:0004533	93.42	gold quality
right testis	UBERON:0004534	93.26	gold quality
testis	UBERON:0000473	92.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.88	silver quality
stromal cell of endometrium	CL:0002255	65.45	gold quality
granulocyte	CL:0000094	62.74	gold quality
blood	UBERON:0000178	61.67	gold quality
adenohypophysis	UBERON:0002196	58.94	gold quality
pituitary gland	UBERON:0000007	58.06	gold quality
bone marrow cell	CL:0002092	57.83	silver quality
smooth muscle tissue	UBERON:0001135	54.34	gold quality
right lobe of liver	UBERON:0001114	54.06	gold quality
bone marrow	UBERON:0002371	54.04	gold quality
monocyte	CL:0000576	53.90	gold quality
leukocyte	CL:0000738	53.00	gold quality
right lobe of thyroid gland	UBERON:0001119	52.43	gold quality
left adrenal gland cortex	UBERON:0035825	52.36	gold quality
prostate gland	UBERON:0002367	52.16	gold quality
body of pancreas	UBERON:0001150	51.88	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	51.20	gold quality
liver	UBERON:0002107	50.64	gold quality
metanephros cortex	UBERON:0010533	50.55	gold quality
thyroid gland	UBERON:0002046	50.42	gold quality
right uterine tube	UBERON:0001302	50.17	gold quality
descending thoracic aorta	UBERON:0002345	49.88	gold quality
left lobe of thyroid gland	UBERON:0001120	49.87	gold quality
left adrenal gland	UBERON:0001234	49.75	gold quality
left ovary	UBERON:0002119	49.17	gold quality
right adrenal gland cortex	UBERON:0035827	49.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.17

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tex54	ENSMUSG00000090840

Protein

Protein identifiers

Testis-expressed protein 54 — A0A1B0GVG6 (reviewed: A0A1B0GVG6)

All UniProt accessions (1): A0A1B0GVG6

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed in Testis.

RefSeq proteins (1): NP_001382388* (*=MANE)

Domains & families (InterPro)

UniProt features (7 total): compositionally biased region 4, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVG6-F1	61.18	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr11q12

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

8 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEX54	UQCC3	Q6UW78	182
TEX54	PLAAT5	Q96KN8	181
TEX54	ASRGL1	Q7L266	163
TEX54	EEF1G	P26641	157

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVG6, G3UW99, O08664, O55777, P05909, P0C1K0, P12453, P16903, P20880, P24097, P24109, Q1KN10, Q1KN12, Q1KN14, Q1KN16, Q1KN19, Q1KN21, Q1L9C7, Q1RMQ5, Q1X6X9, Q1X6Y1, Q1X6Y4, Q1X6Y6, Q1X6Z2, Q1X6Z3, Q1X6Z4, Q2TBV0, Q3KP22, Q4VKV6, Q5J2D6, Q5ZM46, Q63630, Q68D20, Q6PI97, Q6W0C5, Q80VY2, Q82855, Q86YL5, Q873B8, Q8C1R3

Diamond homologs: A0A1B0GVG6, G3UW99

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

812 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:62832499:C:A	W84C	0.985
11:62832499:C:G	W84C	0.985
11:62832501:A:G	W84R	0.980
11:62832501:A:T	W84R	0.980
11:62832481:G:C	F90L	0.970
11:62832481:G:T	F90L	0.970
11:62832483:A:G	F90L	0.970
11:62832497:C:G	R85P	0.968
11:62832494:C:G	R86P	0.962
11:62832512:A:G	I80T	0.956
11:62832512:A:C	I80S	0.944
11:62832500:C:G	W84S	0.943
11:62832509:G:A	T81I	0.927
11:62832512:A:T	I80N	0.926
11:62832491:A:G	L87P	0.923
11:62832503:A:T	L83Q	0.916
11:62832495:G:C	R86G	0.914
11:62832503:A:G	L83P	0.906
11:62832491:A:T	L87Q	0.901
11:62832500:C:A	W84L	0.899
11:62832489:A:G	S88P	0.892
11:62832501:A:C	W84G	0.892
11:62832506:A:T	V82E	0.882
11:62832503:A:C	L83R	0.878
11:62832724:A:C	F9L	0.872
11:62832724:A:T	F9L	0.872
11:62832726:A:G	F9L	0.872
11:62832498:G:C	R85G	0.866
11:62832497:C:A	R85L	0.851
11:62832491:A:C	L87R	0.847

dbSNP variants (sampled 300 via entrez): RS1000871249 (11:62833991 C>A,G), RS1001810752 (11:62833317 A>G), RS1004091632 (11:62832156 G>A), RS1004143992 (11:62832339 C>T), RS1006476353 (11:62834145 A>T), RS1008010249 (11:62834016 C>T), RS1008525000 (11:62832385 C>T), RS1009617016 (11:62834699 C>G), RS1011479689 (11:62833735 G>A), RS1012717009 (11:62832794 C>T), RS1013001010 (11:62831894 G>A), RS1013245168 (11:62832468 A>T), RS1014458393 (11:62832746 C>A), RS1014716980 (11:62832159 A>G), RS1014933434 (11:62833340 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
fluorene-9-bisphenol	decreases expression	1
sodium arsenite	increases expression	1

Clinical trials (associated diseases)

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