CCIN

Calicin, a basic protein of the sperm head cytoskeleton

Gene Information Card

Symbol CCIN
Full Name Calicin
Gene Type protein-coding
Chromosomal Location 9p13.3
NCBI Gene ID 881 ncbi.nlm.nih.gov/gene/881
Ensembl ID ENSG00000136826
UniProt ID Q13939
OMIM ID 602756
HGNC ID 1742
Aliases CT90, MGC138211

Description

The CCIN gene encodes calicin, a basic protein that is a major component of the sperm head cytoskeleton. Calicin is localized to the calyx region of the sperm head and is essential for maintaining the structural integrity and shape of the sperm nucleus. It is expressed specifically in testis and plays a critical role in spermatogenesis and male fertility.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Male infertility (spermatogenic failure) Defects in CCIN may disrupt sperm head cytoskeleton, leading to abnormal sperm morphology and reduced fertility. Limited evidence from case-control studies and animal models.

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 27.8 High
Fallopian tube 0.2 Not detected
Other tissues <0.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
Spermatozoa N/A High expression in mature sperm
Testicular germ cells N/A Expressed in spermatids
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense Rare Potential loss of function, associated with spermatogenic failure
Mutation functional classification

Loss of Function (LOF)

Likely; mutations affecting the start codon or disrupting the protein structure may impair sperm head cytoskeleton assembly.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Not reported.

Pathways

• Spermatogenesis (Reactome: R-HSA-72086)

Protein Summary

Calicin is a 588-amino acid basic protein with a molecular weight of approximately 66 kDa. It contains a coiled-coil domain and is a structural component of the sperm head cytoskeleton, specifically the calyx. It interacts with other cytoskeletal proteins to maintain nuclear shape and stability during spermatogenesis.

Related Products

Product name Cat.No. Species Gene ID
CCIN Knockout HEK293 Cell Line EDJ-KQ4204 Human 881 Details Get a Quote
CCIN Knockout HeLa Cell Line EDJ-KQ52799 Human 881 Details Get a Quote
CCIN Knockout A-549 Cell Line EDJ-KQ61270 Human 881 Details Get a Quote
CCIN Knockout HCT 116 Cell Line EDJ-KQ69765 Human 881 Details Get a Quote
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