AMN1: Antagonist of Mitotic Exit Network 1

A gene encoding a protein involved in cell cycle regulation and linked to cancer and developmental disorders.

Gene Information Card

Symbol AMN1
Full Name Antagonist of Mitotic Exit Network 1
Gene Type protein-coding
Chromosomal Location 12p11.21
NCBI Gene ID 196394 ncbi.nlm.nih.gov/gene/196394
Ensembl ID ENSG00000111206
UniProt ID Q9H5J8
OMIM ID 618230
HGNC ID 25999
Aliases C12orf2, FLJ10324

Description

AMN1 encodes a protein that functions as an antagonist of the mitotic exit network, regulating cell cycle progression. It is involved in cytokinesis and may play a role in tumor suppression. The gene is located on chromosome 12p11.21 and is expressed in various tissues.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Dysregulation of cell cycle control; AMN1 mutations may contribute to genomic instability COSMIC; ClinVar
Developmental disorders Potential role in cell division defects during embryogenesis OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 15.2 Medium
Bone marrow 10.5 Medium
Lymph node 8.3 Low
Brain 6.1 Low
Liver 4.7 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 12.0 Embryonic kidney cells
HeLa 9.5 Cervical cancer cells
K562 7.8 Leukemia cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.100C>T (p.Arg34Trp) Missense <0.1% Unknown functional impact
c.250G>A (p.Gly84Ser) Missense <0.1% Reported in COSMIC for colorectal cancer
Mutation functional classification

Loss of Function (LOF)

Loss-of-function mutations may impair mitotic exit regulation, leading to aneuploidy.

Gain of Function (GOF)

No evidence of gain-of-function mutations in current databases.

Dominant Negative (DN)

Not documented.

Gene Ontology (GO)

• GO:0007049 - cell cycle • GO:0051301 - cell division
• GO:0000281 - mitotic cytokinesis • GO:0005515 - protein binding

Pathways

Mitotic exit network regulation

Protein Summary

The AMN1 protein is a 404-amino acid polypeptide that localizes to the cytoplasm and nucleus. It interacts with components of the mitotic exit network to ensure proper cytokinesis. Structural analysis suggests it contains coiled-coil domains involved in protein-protein interactions.

Related Products

Product name Cat.No. Species Gene ID
AMN1 Knockout HEK293 Cell Line EDJ-KQ12341 Human 196394 Details Get a Quote
AMN1 Knockout HeLa Cell Line EDJ-KQ39934 Human 196394 Details Get a Quote
AMN1 Knockout A-549 Cell Line EDJ-KQ41192 Human 196394 Details Get a Quote
AMN1 Knockout HCT 116 Cell Line EDJ-KQ41193 Human 196394 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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