ARMC5 (armadillo repeat containing 5)

Gene

• Entrez ID: 79798
• Gene name: Armadillo repeat containing 5
• Gene symbol: ARMC5
• Synonyms: 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: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

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

Causal
Disease name	Disease term	dbSNP ID	References
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, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hypertension	Hypertensive disease	rs13306026, rs13333226
Meningioma	Meningioma	rs587776563, rs121434259, rs387906857, rs397509405, rs397509406, rs397509407, rs397509408, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287

Unknown
Disease name	Disease term	dbSNP ID	References
Cushing`s syndrome	Acth-Independent Macronodular Adrenal Hyperplasia, Cushing syndrome due to macronodular adrenal hyperplasia		24283224
Hyperglycemia	Hyperglycemia
Mental depression	Depressive disorder	rs587778876, rs587778877
Nephrolithiasis	Nephrolithiasis