ARMC5 (armadillo repeat containing 5)

Gene

• Entrez ID: 79798
• Gene name: Armadillo repeat containing 5
• Gene symbol: ARMC5
• Synonyms (NCBI Gene): AIMAH2
• Chromosome: 16
• Chromosome location: 16p11.2
• 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 en

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369721476	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777659	C>T	Pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant
rs587777660	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777661	T>C	Pathogenic	Missense variant, coding sequence variant
rs587777662	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777663	T>C	Pathogenic	Missense variant, coding sequence variant
rs1596605496	->GGCGC	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT799148	hsa-miR-1915	CLIP-seq
MIRT799149	hsa-miR-3127-3p	CLIP-seq
MIRT799150	hsa-miR-3189-3p	CLIP-seq
MIRT799151	hsa-miR-3191	CLIP-seq
MIRT799152	hsa-miR-4726-3p	CLIP-seq
MIRT799153	hsa-miR-1237	CLIP-seq
MIRT799154	hsa-miR-1294	CLIP-seq
MIRT799155	hsa-miR-1302	CLIP-seq
MIRT799156	hsa-miR-2054	CLIP-seq
MIRT799157	hsa-miR-2114	CLIP-seq
MIRT799158	hsa-miR-3174	CLIP-seq
MIRT799159	hsa-miR-3182	CLIP-seq
MIRT799160	hsa-miR-34a	CLIP-seq
MIRT799161	hsa-miR-34c-5p	CLIP-seq
MIRT799162	hsa-miR-3614-3p	CLIP-seq
MIRT799163	hsa-miR-4292	CLIP-seq
MIRT799164	hsa-miR-4298	CLIP-seq
MIRT799165	hsa-miR-4308	CLIP-seq
MIRT799166	hsa-miR-449a	CLIP-seq
MIRT799167	hsa-miR-449b	CLIP-seq
MIRT799168	hsa-miR-4648	CLIP-seq
MIRT799169	hsa-miR-4652-3p	CLIP-seq
MIRT799170	hsa-miR-4731-5p	CLIP-seq
MIRT799171	hsa-miR-4733-5p	CLIP-seq
MIRT799172	hsa-miR-500a	CLIP-seq
MIRT799173	hsa-miR-512-3p	CLIP-seq
MIRT799174	hsa-miR-637	CLIP-seq
MIRT799175	hsa-miR-921	CLIP-seq
MIRT1935951	hsa-miR-1289	CLIP-seq
MIRT1935952	hsa-miR-3198	CLIP-seq
MIRT1935953	hsa-miR-4294	CLIP-seq
MIRT1935954	hsa-miR-4309	CLIP-seq
MIRT1935955	hsa-miR-432	CLIP-seq
MIRT1935956	hsa-miR-4716-5p	CLIP-seq
MIRT1935957	hsa-miR-671-3p	CLIP-seq
MIRT2176004	hsa-miR-3918	CLIP-seq
MIRT2176005	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	39667934
GO:0001701	Process	In utero embryonic development	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0005515	Function	Protein binding	IPI	28169274, 32296183
GO:0005634	Component	Nucleus	IDA	35687106, 38225631
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	35862218
GO:0005737	Component	Cytoplasm	IDA	24283224, 35687106, 38225631
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	24283224
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005925	Component	Focal adhesion	IDA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112
GO:0006368	Process	Transcription elongation by RNA polymerase II	IDA	9852112
GO:0007369	Process	Gastrulation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0016020	Component	Membrane	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	35687106, 35862218, 38225631, 39504960, 39667934
GO:0035801	Process	Adrenal cortex development	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	35687106, 35862218, 38225631, 39504960, 39667934
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043367	Process	CD4-positive, alpha-beta T cell differentiation	IEA
GO:0050810	Process	Regulation of steroid biosynthetic process	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0160240	Process	RNA polymerase II transcription initiation surveillance	IDA	39504960, 39667934
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	35687106, 35862218, 38225631, 39504960, 39667934
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IEA

Other IDs

• MIM: 615549
• HGNC: 25781
• e!Ensembl: ENSG00000140691

Protein

• UniProt ID: Q96C12
• Protein name: Armadillo repeat-containing protein 5
• Protein function: Substrate-recognition component of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:39504960, PubMed:39667934). The BCR(ARMC5) complex pro
• Sequence:

  MAAAKPTLTDSLSFCLAQLAAAAGEALGGEKDPATNETPLSRALLALRTRHIKAAGGIER
  FRARGGLRPLLALLRRAAAAGSAPSQAGPGSAPSSAASGASSPAPASGPAPSAVSSSSPT
  PPVRLRKTLDLALSILADCCTEGACRTEVRRLGGILPLVTILQCMKTDSIQNRTARALGN
  LAMEPESCGDIHCAGAVPLLVESLTACQDSQCLQSVVRALRNLADSPQHRLALAQQGAVR
  PLAELLATAPDAALTLALVRALLELSRGCSRACAEQLSLGGGLGPLVSLASHPKRAVREG
  TILILANLCAQGLIRPALGNAGGVEVLVDELRQRRDPNGASPTSQQPLVRAVCLLCREAI
  NRARLRDAGGLDLLMGLLRDPRASAWHPRIVAALVGFLYDTGALGRLQALGLVPLLAGQL
  CGEAGEEEEEGREAASWDFPEERTPERAQGGSFRSLRSWLISEGYATGPDDISPDWSPEQ
  CPPEPMEPASPAPTPTSLRAPRTQRTPGRSPAAAIEEPWGREGPALLLLSRFSQAPDPSG
  ALVTGPALYGLLTYVTGAPGPPSPRALRILSRLTCNPACLEAFVRSYGAALLRAWLVLGV
  APDDWPAPRARPTLHSRHRELGERLLQNLTVQAESPFGVGALTHLLLSGSPEDRVACALT
  LPFICRKPSLWRRLLLEQGGLRLLLAALTRPAPHPLFLFFAADSLSCLQDLVSPTVSPAV
  PQAVPMDLDSPSPCLYEPLLGPAPVPAPDLHFLLDSGLQLPAQRAASATASPFFRALLSG
  SFAEAQMDLVPLRGLSPGAAWPVLHHLHGCRGCGAALGPVPPPGQPLLGSEAEEALEAAG
  RFLLPGLEEELEEAVGRIHLGPQGGPESVGEVFRLGRPRLAAHCARWTLGSEQCPRKRGL
  ALVGLVEAAGEEAGPLTEALLAVVMGIELGARVPA

• Sequence length: 935

Pathways

KEGG:

Cushing syndrome

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ACTH-independent macronodular adrenal hyperplasia 2	Pathogenic; Likely pathogenic	rs778422149, rs35461188, rs2082338123, rs181967284, rs2142561742, rs2142578942, rs2142562239, rs369721476, rs587777659, rs587777660, rs587777661, rs951869246, rs587777663, rs2142580488, rs2544851883, rs2544856541, rs1596605496	RCV001784800 RCV002271676 RCV002271677 RCV002271678 RCV002271679 RCV002271680 RCV002271682 RCV000133557 RCV000133558 RCV000133559 RCV000133560 RCV000133561 RCV000133563 RCV002260931 RCV002466780 RCV002466882 RCV000825504	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARMC5-related disorder	Likely pathogenic; Pathogenic	rs2544859360, rs1351158680, rs1386368908	RCV003416922 RCV003896752 RCV003944300	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cushing syndrome due to macronodular adrenal hyperplasia	Likely pathogenic	rs2142575218	RCV001507096	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macronodular adrenal hyperplasia	Likely pathogenic	rs769017434	RCV001839471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME DUE TO BILATERAL MACRONODULAR ADRENOCORTICAL DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	BEFREE	24283224, 29279458		★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	ORPHANET_DG	24283224		★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2	Acth-independent macronodular adrenal hyperplasia	UNIPROT_DG	24283224, 24601692, 24708098, 24905064, 25822102, 25853793, 26604299, 27094308, 28458897, 28676429		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2	Acth-independent macronodular adrenal hyperplasia	BEFREE	24708098, 25279498, 25822102, 25853793, 26162405, 26214113, 27212135, 28911199		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2	Acth-independent macronodular adrenal hyperplasia	GENOMICS_ENGLAND_DG	24905064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2	Acth-independent macronodular adrenal hyperplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenal hyperplasia	Adrenal hyperplasia	BEFREE	27094308		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	26739091, 30456751		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	33564960	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26739091, 30456751		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	26739091, 30456751		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33544460	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33544460	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37625448	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	27094308		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	25822102, 26446392, 29370219		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	24283224, 24601692, 25279498, 26038203, 26264719, 26446392, 26604299, 28911199, 29370219		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	24283224, 24601692, 25279498, 25853793, 29279458, 29370219, 31014964, 32117062, 32638579	Associate	★☆☆☆☆ Found in Text Mining only
Cushing syndrome due to macronodular adrenal hyperplasia	Cushing`s Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	24905064		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	29370219, 32436940	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31266387, 37029354	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25822102, 31266387		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	BEFREE	25279498		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33544460	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	30456751		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	25279498, 27568465		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	25279498, 27568465	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	33544460	Inhibit	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25822102, 32436940	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24283224, 24708098, 25279498, 25425660, 25822102, 26264719, 26684645, 27306888, 27568465, 28911199, 29587644		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	25279498		★☆☆☆☆ Found in Text Mining only