TMEM95

Transmembrane Protein 95

Gene Information Card

Symbol TMEM95
Full Name transmembrane protein 95
Gene Type protein-coding
Chromosomal Location 17p13.1
NCBI Gene ID 645722 ncbi.nlm.nih.gov/gene/645722
Ensembl ID ENSG00000187735
UniProt ID Q6ZUT3
OMIM ID 619191
HGNC ID 37223
Aliases MGC35130

Description

TMEM95 (transmembrane protein 95) is a protein-coding gene located on chromosome 17p13.1. The encoded protein is a transmembrane protein with unknown function. Expression data suggest it may be involved in spermatogenesis, as it is predominantly expressed in testis. Limited functional studies are available.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Male infertility Potential role in spermatogenesis; loss-of-function variants associated with reduced fertility ClinVar, OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Fallopian tube 2.1 Low
Prostate 1.8 Low
Thyroid 1.2 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 0.5 Low expression
K562 0.3 Low expression
HeLa 0.4 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense Rare Unknown effect
c.100C>T Nonsense Rare Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense variants may lead to loss of function; associated with male infertility.

Gain of Function (GOF)

No evidence.

Dominant Negative (DN)

No evidence.

Gene Ontology (GO)

• integral component of membrane (GO:0016021) plasma membrane (GO:0005886)

Protein Summary

TMEM95 is a 214-amino acid transmembrane protein with a single transmembrane domain. Its exact function is unknown, but it is predicted to localize to the plasma membrane. Expression is enriched in testis, suggesting a role in male reproductive biology.

Related Products

Product name Cat.No. Species Gene ID
TMEM95 Knockout HEK293 Cell Line EDJ-KQ15785 Human 339168 Details Get a Quote
TMEM95 Knockout HeLa Cell Line EDJ-KQ59632 Human 339168 Details Get a Quote
TMEM95 Knockout A-549 Cell Line EDJ-KQ68099 Human 339168 Details Get a Quote
TMEM95 Knockout HCT 116 Cell Line EDJ-KQ76473 Human 339168 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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