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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79798
Gene name Gene Name - the full gene name approved by the HGNC.	Armadillo repeat containing 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ARMC5
Synonyms (NCBI Gene) Gene synonyms aliases	AIMAH2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AIMAH2
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28169274, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	24283224
GO:0005737	Component	Cytoplasm	IMP	24283224
GO:0005829	Component	Cytosol	IDA
GO:0005925	Component	Focal adhesion	IDA

MIM	HGNC	e!Ensembl
615549	25781	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

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

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Acth-independent macronodular adrenal hyperplasia	ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2	rs369721476, rs587777659, rs587777660, rs587777661, rs951869246, rs587777663, rs1596605496	24283224, 24601692, 25822102, 25853793, 24708098, 27094308, 24905064, 26604299, 28458897, 28676429
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Hypertension	Hypertensive disease	rs13306026
Meningioma	Meningioma	rs587776563, rs121434259, rs387906857, rs397509405, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937 View all (3 more)
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Mental depression	Depressive disorder	ClinVar
Cushing`s Syndrome	Cushing syndrome due to macronodular adrenal hyperplasia	GenCC

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining
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)