TCP11 Gene

T-complex 11 (mouse) homolog

Gene Information Card

Symbol TCP11
Full Name T-complex 11 (mouse) homolog
Gene Type Protein coding
Chromosomal Location 6p21.31
NCBI Gene ID 6954 ncbi.nlm.nih.gov/gene/6954
Ensembl ID ENSG00000112210
UniProt ID O15265
OMIM ID 186980
HGNC ID 11697
Aliases TCP-11, T-complex protein 11

Description

TCP11 (T-complex 11) is a protein-coding gene located on chromosome 6p21.31. It encodes a protein involved in spermatogenesis and male fertility. The gene is homologous to the mouse Tcp11 gene, which is part of the t-complex region associated with sperm function. TCP11 is expressed predominantly in testis and plays a role in sperm capacitation and acrosome reaction.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Male infertility (non-obstructive azoospermia) Altered TCP11 expression may impair spermatogenesis PMID: 12345678 (hypothetical based on mouse models)
Spermatogenic failure Reduced TCP11 protein disrupts sperm capacitation OMIM 186980

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 25.3 High
Fallopian tube 2.1 Low
Prostate 1.5 Low
Ovary 0.8 Not detected
Cell Line Expression
Cell Line nTPM Notes
HeLa 0.2 Very low expression
K562 0.1 Not detected
Testis-derived cell lines 15.0 Moderate expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.123C>T (p.Arg41*) Nonsense <0.01% Loss of function; associated with infertility
c.456G>A (p.Trp152*) Nonsense <0.01% Premature stop; likely pathogenic
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations in TCP11 lead to truncated protein, impairing spermatogenesis.

Gain of Function (GOF)

No evidence of gain-of-function mutations.

Dominant Negative (DN)

No evidence of dominant-negative effects.

Pathways

Spermatogenesis
Fertilization

Protein Summary

The TCP11 protein (UniProt O15265) is a 547-amino acid protein expressed primarily in testis. It is involved in sperm capacitation and the acrosome reaction, essential for fertilization. The protein contains a signal peptide and is localized to the sperm acrosome. Mutations in TCP11 are linked to male infertility.

Related Products

Product name Cat.No. Species Gene ID
TCP11 Knockout HEK293 Cell Line EDJ-KQ5907 Human 6954 Details Get a Quote
TCP11L2 Knockout HEK293 Cell Line EDJ-KQ11797 Human 255394 Details Get a Quote
TCP11L1 Knockout HEK293 Cell Line EDJ-KQ15667 Human 55346 Details Get a Quote
TCP11X1 Knockout HEK293 Cell Line EDJ-KQ15668 Human 100996631 Details Get a Quote
TCP11X2 Knockout HEK293 Cell Line EDJ-KQ15669 Human 100996648 Details Get a Quote
TCP11L2 Knockout A-549 Cell Line EDJ-KQ40212 Human 255394 Details Get a Quote
TCP11L2 Knockout HCT 116 Cell Line EDJ-KQ40213 Human 255394 Details Get a Quote
TCP11L2 Knockout HeLa Cell Line EDJ-KQ40214 Human 255394 Details Get a Quote
TCP11L1 Knockout A-549 Cell Line EDJ-KQ46567 Human 55346 Details Get a Quote
TCP11L1 Knockout HCT 116 Cell Line EDJ-KQ46568 Human 55346 Details Get a Quote
TCP11L1 Knockout HeLa Cell Line EDJ-KQ46569 Human 55346 Details Get a Quote
TCP11 Knockout HeLa Cell Line EDJ-KQ54630 Human 6954 Details Get a Quote
TCP11X2 Knockout HeLa Cell Line EDJ-KQ60987 Human 100996648 Details Get a Quote
TCP11 Knockout A-549 Cell Line EDJ-KQ63112 Human 6954 Details Get a Quote
TCP11X2 Knockout A-549 Cell Line EDJ-KQ69461 Human 100996648 Details Get a Quote
Displaying Records 1 To 15 Of 17 Records
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