ARMC5 - armadillo repeat containing 5 Gene
Also Known as AIMAH2
Species: Homo sapiens
About ARMC5
This gene has 7 transcripts (splice variants), 187 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.5), spleen (RPKM 2.1) and 25 other tissues.
Summary
This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
ARMC5 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001105247.2 | NP_001098717.1 | armadillo repeat-containing protein 5 isoform a precursor |
| NM_001288767.2 | NP_001275696.1 | armadillo repeat-containing protein 5 isoform c |
| NM_001301820.1 | NP_001288749.1 | armadillo repeat-containing protein 5 isoform d |
| NM_024742.2 | NP_079018.1 | armadillo repeat-containing protein 5 isoform b precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28169274 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
24283224 | GOA |
| located in cytoplasm |
IMP
IMP: Inferred from mutant phenotype
|
24283224 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
armadillo repeat-containing protein 5 |
|
ARMC5 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ARMC5 | Q96C12 | SPAG8 | Homo sapiens | Q99932-2 | 32296183 | |
|
Intra
|
ARMC5 | Q96C12 | CNOT2 | Homo sapiens | Q9NZN8 | 32296183 | |
|
Intra
|
ARMC5 | Q96C12 | ENKD1 | Homo sapiens | Q9H0I2 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
|
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
|
| Acth-Independent Cushing Syndrome |
|
|
| Hypothalamic Neoplasm |
|
|
| Diencephalic Neoplasm |
|
|
| Primary Pigmented Nodular Adrenocortical Disease |
|
|
| Adrenal Carcinoma |
|
|
| Conn'S Syndrome |
|
|
| Breast Ductal Adenoma |
|
|
| Adrenal Gland Disease |
|
|
| Intracranial Meningioma |
|
|
| Carney Complex Variant |
|
|
| Brain Meningioma |
|
|
| Mccune-Albright Syndrome |
|
|
| Adrenal Adenoma |
|
|
| Cerebral Meningioma |
|
|
| Adrenal Cortex Disease |
|
|
| Multiple Endocrine Neoplasia, Type I |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Lipoid Congenital Adrenal Hyperplasia |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Meningioma, Familial |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | ARMC5 | VGNC | VGNC:26159 |
| Felis catus | ARMC5 | VGNC | VGNC:59934 |
| Canis familiaris | ARMC5 | VGNC | VGNC:38126 |
| Rattus norvegicus | ARMC5 | RGD | RGD:1306553 |
| Mus musculus | ARMC5 | MGD | MGI:2384586 |
| Macaca mulatta | ARMC5 | VGNC | VGNC:69910 |
| Others | ARMC5 | NCBI |