ARMH4: Armadillo-Like Helical Domain Containing 4
A gene encoding a protein with armadillo-type fold domains, involved in cellular processes and linked to certain cancers.
Gene Information Card
| Symbol | ARMH4 |
|---|---|
| Full Name | armadillo-like helical domain containing 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | A6NKD9 |
| OMIM ID | 618416 |
| HGNC ID | 37210 |
| Aliases | C14orf80, FLJ45831 |
Description
ARMH4 (armadillo-like helical domain containing 4) is a protein-coding gene located on chromosome 14q32.33. The encoded protein contains armadillo-type fold domains, which are typically involved in protein-protein interactions and cellular signaling. ARMH4 is expressed in various tissues and has been implicated in cancer through somatic mutations and altered expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Somatic mutations in ARMH4 may disrupt protein interactions, contributing to tumorigenesis. | COSMIC |
| Lung cancer | Recurrent missense mutations observed in lung adenocarcinoma samples. | COSMIC |
| Breast cancer | Altered expression levels reported in breast cancer tissues. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Thyroid | 6.5 | Medium |
| Adrenal gland | 5.1 | Low |
| Brain | 3.8 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.1 | Embryonic kidney cell line |
| HeLa | 5.4 | Cervical cancer cell line |
| A549 | 4.8 | Lung carcinoma cell line |
| MCF7 | 3.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Glu120Lys | Missense | <0.1% | Unknown; predicted benign by SIFT |
| p.Arg245Trp | Missense | <0.1% | Unknown; predicted damaging by PolyPhen |
| p.Leu310Phe | Missense | <0.1% | Unknown; predicted tolerated |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ARMH4.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • armadillo repeat domain binding |
Pathways
• No curated pathways in Reactome or KEGG for ARMH4.
Protein Summary
The ARMH4 protein (UniProt A6NKD9) contains armadillo-type helical domains, which are known to mediate protein-protein interactions. Its exact cellular function remains under investigation, but it is predicted to play a role in signal transduction or structural organization. Expression data suggest involvement in reproductive and endocrine tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARMH4 Knockout HEK293 Cell Line | EDJ-KQ9720 | Human | 145407 | Details Get a Quote |
| ARMH4 Knockout A-549 Cell Line | EDJ-KQ37817 | Human | 145407 | Details Get a Quote |
| ARMH4 Knockout HeLa Cell Line | EDJ-KQ58520 | Human | 145407 | Details Get a Quote |
| ARMH4 Knockout HCT 116 Cell Line | EDJ-KQ75410 | Human | 145407 | Details Get a Quote |
