Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (7)

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

Show/Hide all (37)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (32)

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

MIM	HGNC	e!Ensembl
615549	25781	ENSG00000140691

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

Family and domains

Sequence

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

Sequence length

935

Interactions

View interactions

	KEGG
	Cushing syndrome

124

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 View all (2 more)	RCV001784800 RCV002271676 RCV002271677 RCV002271678 RCV002271679 RCV002271680 RCV002271682 RCV000133557 RCV000133558 RCV000133559 RCV000133560 RCV000133561 RCV000133563 RCV002260931 RCV002466780 RCV002466882 RCV000825504
ARMC5-related disorder	Likely pathogenic; Pathogenic	rs2544859360, rs1351158680, rs1386368908	RCV003416922 RCV003896752 RCV003944300
Cushing syndrome due to macronodular adrenal hyperplasia	Likely pathogenic	rs2142575218	RCV001507096
Macronodular adrenal hyperplasia	Likely pathogenic	rs769017434	RCV001839471

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs11863886	RCV005938544
Cervical cancer	Benign	rs11863886	RCV005938547
Gastric cancer	Benign	rs11863886, rs190300567	RCV005938550 RCV005902995
Hepatocellular carcinoma	Benign	rs11863886	RCV005938545
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity	rs200655247	RCV003994416
Lung cancer	Benign	rs11863886	RCV005938554
Malignant lymphoma, large B-cell, diffuse	Benign	rs11863886	RCV005938548
Malignant tumor of esophagus	Benign	rs11863886, rs190300567	RCV005938546 RCV005902994
Ovarian serous cystadenocarcinoma	Benign	rs11863886	RCV005938551
Sarcoma	Benign	rs11863886	RCV005938549
Thyroid cancer, nonmedullary, 1	Benign	rs11863886	RCV005938553
Uterine carcinosarcoma	Benign	rs11863886	RCV005938552

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acth Independent Macronodular Adrenal Hyperplasia	Associate	24283224, 24601692, 25279498, 25822102, 25853793, 26162405, 27568465, 29279458, 29343284, 29370219, 29587644, 31014964, 32117062, 32267363, 32638579 View all (10 more)
ACTH Syndrome Ectopic	Associate	32267363
Adrenal Cortex Neoplasms	Associate	26162405
Adrenal Gland Diseases	Associate	32901291
Adrenal Gland Neoplasms	Inhibit	32436940
Adrenal Gland Neoplasms	Associate	32901291
Adrenal incidentaloma	Associate	32117062, 37625448
Adrenocortical Adenoma	Associate	33564960
Adrenocortical Carcinoma	Associate	33564960
Carcinogenesis	Associate	33544460
Carcinoma Renal Cell	Associate	33544460
Congenital Abnormalities	Associate	37625448
Cushing Syndrome	Associate	24283224, 24601692, 25279498, 25853793, 29279458, 29370219, 31014964, 32117062, 32638579
Exophthalmos	Associate	29343284
Glycosuria	Associate	32227112
Hyper IgM Immunodeficiency Syndrome Type 1	Associate	36727580
Hyperaldosteronism	Associate	29370219, 32436940
Hypertension	Associate	31266387, 37029354
Kidney Neoplasms	Inhibit	33544460
Macrocephaly Alopecia Cutis Laxa and Scoliosis	Associate	37625448
MASS syndrome	Associate	37029354
Meningioma	Associate	25279498, 27568465
Meningioma	Inhibit	33544460
Metabolic Syndrome	Associate	25822102, 32436940
Multiple Endocrine Neoplasia Type 1	Associate	32901291
Neoplasms	Associate	24283224, 24601692, 25279498, 25822102, 26162405, 29279458, 32901291, 36269557, 36727580
Neoplasms	Inhibit	27568465, 32713866, 33544460
Neuroendocrine Tumors	Associate	32901291
Pigmented Nodular Adrenocortical Disease Primary 1	Associate	32638579
Syndrome	Associate	36269557
Thyroid Nodule	Associate	25279498, 29343284, 32117062
Wounds and Injuries	Associate	31266387

ARMC5 (armadillo repeat containing 5)