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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TEX28
testis expressed 28
Chromosome X · Xq28
NCBI Gene: 1527Ensembl: ENSG00000278057.4HGNC: HGNC:2563UniProt: O15482
13PubMed Papers
6Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingendomembrane systemmembraneAbnormality of refractionTownes-Brocks syndromemyopiaazoospermia
✦AI Summary

TEX28 (testis expressed 28) is an X-linked gene encoding a 410-amino acid protein with unknown functional homology 1. The gene is transcribed exclusively in testis tissue 1, suggesting a specialized role in male reproduction. TEX28 localizes to the endomembrane system, functioning as part of the TEX28 family of proteins involved in endoplasmic reticulum (ER) architecture. TMCC3, a TEX28 family member, resides at ER three-way junctions and facilitates proper tubular ER network formation through interactions with atlastins 2. TMCC3 knockdown decreases three-way junction numbers and expands ER sheets, indicating the TEX28 family supports critical ER structural organization 2. Regarding male infertility, TEX28 knockdown in Drosophila resulted in normal fertility, suggesting it is not essential for basic reproductive function 3. However, TEX28's testis-specific expression and potential involvement in complex genomic rearrangements affecting reproductive health warrant further investigation 4. TEX28 gains clinical relevance in MECP2 duplication syndrome, where TEX28 can be included in duplications affecting chromosome X, though its specific contribution to disease phenotype remains unclear 56. The gene's molecular function appears primarily related to ER membrane organization rather than direct fertility determination.

Sources cited
1
TEX28 encodes a 410-amino acid protein with testis-specific expression and no homology to known proteins
PMID: 9268643
2
TMCC3 (TEX28 family member) localizes at ER three-way junctions and is required for proper tubular ER network formation
PMID: 31696206
3
TEX28 knockdown in Drosophila resulted in normal fertility, indicating it is not essential for basic reproductive function
PMID: 37594251
4
TEX28 can form chimeric transcripts resulting from complex chromosomal rearrangements on Xq28
PMID: 26667017
5
TEX28 is included in MECP2 duplication syndrome-associated tandem duplications on chromosome Xq28
PMID: 38881329
6
TEX28 can be involved in MECP2 duplication events and fusion transcripts affecting neurodevelopmental outcomes
PMID: 22883432
Disease Associationsⓘ6
Abnormality of refractionOpen Targets
0.05Suggestive
Townes-Brocks syndromeOpen Targets
0.01Suggestive
myopiaOpen Targets
0.00Suggestive
azoospermiaOpen Targets
0.00Suggestive
color vision disorderOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TKTL1Protein interaction92%OPN1MWProtein interaction90%OPN1LWProtein interaction90%
Tissue Expression6 tissues
Heart
0%
Lung
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
TEX28TKTL1OPN1MWOPN1LW
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O15482
View on AlphaFold ↗
RankingsWhere TEX28 stands among ~20K protein-coding genes
  • #16,329of 20,598
    Most Researched13
Genes detectedTEX28
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Scrutinizing the human TEX genes in the context of human male infertility.
PMID: 37594251
Andrology · 2024
1.00
2
An insertion/deletion TEX28 polymorphism and its application to analysis of red/green visual pigment gene arrays.
PMID: 15378397
J Hum Genet · 2004
0.90
3
TMCC3 localizes at the three-way junctions for the proper tubular network of the endoplasmic reticulum.
PMID: 31696206
Biochem J · 2019
0.80
4
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.
PMID: 38881329
Dis Model Mech · 2024
0.70
5
Identification of a gene within the tandem array of red and green color pigment genes.
PMID: 9268643
Genomics · 1997
0.60