ARB2A (ARB2 cotranscriptional regulator A)

Gene

• Entrez ID: 83989
• Gene name: ARB2 cotranscriptional regulator A
• Gene symbol: ARB2A
• Synonyms (NCBI Gene): C5orf21, FAM172A, Toupee
• Chromosome: 5
• Chromosome location: 5q15

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039397	hsa-miR-421	CLASH	23622248
MIRT527521	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT527520	hsa-miR-1910-3p	PAR-CLIP	22012620
MIRT527519	hsa-miR-6511a-5p	PAR-CLIP	22012620
MIRT401439	hsa-miR-330-3p	PAR-CLIP	22012620
MIRT527518	hsa-miR-1827	PAR-CLIP	22012620
MIRT440683	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440683	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT527521	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT527520	hsa-miR-1910-3p	PAR-CLIP	22012620
MIRT527519	hsa-miR-6511a-5p	PAR-CLIP	22012620
MIRT401439	hsa-miR-330-3p	PAR-CLIP	22012620
MIRT527518	hsa-miR-1827	PAR-CLIP	22012620
MIRT981975	hsa-miR-1207-5p	CLIP-seq
MIRT981976	hsa-miR-1236	CLIP-seq
MIRT981977	hsa-miR-1252	CLIP-seq
MIRT981978	hsa-miR-1273d	CLIP-seq
MIRT981979	hsa-miR-1279	CLIP-seq
MIRT981980	hsa-miR-1299	CLIP-seq
MIRT981981	hsa-miR-132	CLIP-seq
MIRT981982	hsa-miR-137	CLIP-seq
MIRT981983	hsa-miR-147	CLIP-seq
MIRT981984	hsa-miR-2053	CLIP-seq
MIRT981985	hsa-miR-212	CLIP-seq
MIRT981986	hsa-miR-23a	CLIP-seq
MIRT981987	hsa-miR-23b	CLIP-seq
MIRT981988	hsa-miR-23c	CLIP-seq
MIRT981989	hsa-miR-3065-5p	CLIP-seq
MIRT981990	hsa-miR-3074-3p	CLIP-seq
MIRT981991	hsa-miR-30a	CLIP-seq
MIRT981992	hsa-miR-30b	CLIP-seq
MIRT981993	hsa-miR-30c	CLIP-seq
MIRT981994	hsa-miR-30d	CLIP-seq
MIRT981995	hsa-miR-30e	CLIP-seq
MIRT981996	hsa-miR-3143	CLIP-seq
MIRT981997	hsa-miR-3145-5p	CLIP-seq
MIRT981998	hsa-miR-3148	CLIP-seq
MIRT981999	hsa-miR-3159	CLIP-seq
MIRT982000	hsa-miR-3182	CLIP-seq
MIRT982001	hsa-miR-3190	CLIP-seq
MIRT982002	hsa-miR-3192	CLIP-seq
MIRT982003	hsa-miR-323-5p	CLIP-seq
MIRT982004	hsa-miR-323b-5p	CLIP-seq
MIRT982005	hsa-miR-326	CLIP-seq
MIRT982006	hsa-miR-330-5p	CLIP-seq
MIRT982007	hsa-miR-3606	CLIP-seq
MIRT982008	hsa-miR-361-5p	CLIP-seq
MIRT982009	hsa-miR-3647-3p	CLIP-seq
MIRT982010	hsa-miR-3688-3p	CLIP-seq
MIRT982011	hsa-miR-378g	CLIP-seq
MIRT982012	hsa-miR-3911	CLIP-seq
MIRT982013	hsa-miR-3919	CLIP-seq
MIRT982014	hsa-miR-3942-3p	CLIP-seq
MIRT982015	hsa-miR-3978	CLIP-seq
MIRT982016	hsa-miR-4272	CLIP-seq
MIRT982017	hsa-miR-4274	CLIP-seq
MIRT982018	hsa-miR-4292	CLIP-seq
MIRT982019	hsa-miR-4303	CLIP-seq
MIRT982020	hsa-miR-4314	CLIP-seq
MIRT982021	hsa-miR-4325	CLIP-seq
MIRT982022	hsa-miR-4422	CLIP-seq
MIRT982023	hsa-miR-4437	CLIP-seq
MIRT982024	hsa-miR-4514	CLIP-seq
MIRT982025	hsa-miR-4519	CLIP-seq
MIRT982026	hsa-miR-4527	CLIP-seq
MIRT982027	hsa-miR-4635	CLIP-seq
MIRT982028	hsa-miR-4645-3p	CLIP-seq
MIRT982029	hsa-miR-4645-5p	CLIP-seq
MIRT982030	hsa-miR-4646-5p	CLIP-seq
MIRT982031	hsa-miR-4649-3p	CLIP-seq
MIRT982032	hsa-miR-4673	CLIP-seq
MIRT982033	hsa-miR-4674	CLIP-seq
MIRT982034	hsa-miR-4690-3p	CLIP-seq
MIRT982035	hsa-miR-4692	CLIP-seq
MIRT982036	hsa-miR-4694-3p	CLIP-seq
MIRT982037	hsa-miR-4725-5p	CLIP-seq
MIRT982038	hsa-miR-4729	CLIP-seq
MIRT982039	hsa-miR-4747-5p	CLIP-seq
MIRT982040	hsa-miR-4755-3p	CLIP-seq
MIRT982041	hsa-miR-4756-3p	CLIP-seq
MIRT982042	hsa-miR-4762-3p	CLIP-seq
MIRT982043	hsa-miR-4763-3p	CLIP-seq
MIRT982044	hsa-miR-4766-5p	CLIP-seq
MIRT982045	hsa-miR-4778-3p	CLIP-seq
MIRT982046	hsa-miR-4782-5p	CLIP-seq
MIRT982047	hsa-miR-495	CLIP-seq
MIRT982048	hsa-miR-504	CLIP-seq
MIRT982049	hsa-miR-508-5p	CLIP-seq
MIRT982050	hsa-miR-514	CLIP-seq
MIRT982051	hsa-miR-514b-3p	CLIP-seq
MIRT982052	hsa-miR-516b	CLIP-seq
MIRT982053	hsa-miR-526b	CLIP-seq
MIRT982054	hsa-miR-545	CLIP-seq
MIRT982055	hsa-miR-548ac	CLIP-seq
MIRT982056	hsa-miR-548d-3p	CLIP-seq
MIRT982057	hsa-miR-548n	CLIP-seq
MIRT982058	hsa-miR-548p	CLIP-seq
MIRT982059	hsa-miR-548t	CLIP-seq
MIRT982060	hsa-miR-548z	CLIP-seq
MIRT982061	hsa-miR-556-3p	CLIP-seq
MIRT982062	hsa-miR-578	CLIP-seq
MIRT982063	hsa-miR-581	CLIP-seq
MIRT982064	hsa-miR-615-3p	CLIP-seq
MIRT982065	hsa-miR-644	CLIP-seq
MIRT982066	hsa-miR-665	CLIP-seq
MIRT982067	hsa-miR-760	CLIP-seq
MIRT982068	hsa-miR-875-3p	CLIP-seq
MIRT982069	hsa-miR-876-3p	CLIP-seq
MIRT982070	hsa-miR-885-3p	CLIP-seq
MIRT982071	hsa-miR-940	CLIP-seq
MIRT982034	hsa-miR-4690-3p	CLIP-seq
MIRT982070	hsa-miR-885-3p	CLIP-seq
MIRT982034	hsa-miR-4690-3p	CLIP-seq
MIRT982070	hsa-miR-885-3p	CLIP-seq
MIRT981975	hsa-miR-1207-5p	CLIP-seq
MIRT981977	hsa-miR-1252	CLIP-seq
MIRT981979	hsa-miR-1279	CLIP-seq
MIRT981982	hsa-miR-137	CLIP-seq
MIRT1991071	hsa-miR-141	CLIP-seq
MIRT1991072	hsa-miR-200a	CLIP-seq
MIRT981984	hsa-miR-2053	CLIP-seq
MIRT982005	hsa-miR-326	CLIP-seq
MIRT982006	hsa-miR-330-5p	CLIP-seq
MIRT982011	hsa-miR-378g	CLIP-seq
MIRT982013	hsa-miR-3919	CLIP-seq
MIRT982014	hsa-miR-3942-3p	CLIP-seq
MIRT1991073	hsa-miR-3943	CLIP-seq
MIRT1991074	hsa-miR-4286	CLIP-seq
MIRT1991075	hsa-miR-4323	CLIP-seq
MIRT982021	hsa-miR-4325	CLIP-seq
MIRT982024	hsa-miR-4514	CLIP-seq
MIRT982028	hsa-miR-4645-3p	CLIP-seq
MIRT982029	hsa-miR-4645-5p	CLIP-seq
MIRT982032	hsa-miR-4673	CLIP-seq
MIRT982035	hsa-miR-4692	CLIP-seq
MIRT982040	hsa-miR-4755-3p	CLIP-seq
MIRT982041	hsa-miR-4756-3p	CLIP-seq
MIRT1991076	hsa-miR-4758-3p	CLIP-seq
MIRT982043	hsa-miR-4763-3p	CLIP-seq
MIRT1991077	hsa-miR-4775	CLIP-seq
MIRT982050	hsa-miR-514	CLIP-seq
MIRT982051	hsa-miR-514b-3p	CLIP-seq
MIRT982055	hsa-miR-548ac	CLIP-seq
MIRT1991078	hsa-miR-548ae	CLIP-seq
MIRT1991079	hsa-miR-548aj	CLIP-seq
MIRT1991080	hsa-miR-548am	CLIP-seq
MIRT982056	hsa-miR-548d-3p	CLIP-seq
MIRT1991081	hsa-miR-548x	CLIP-seq
MIRT982060	hsa-miR-548z	CLIP-seq
MIRT1991082	hsa-miR-590-3p	CLIP-seq
MIRT982064	hsa-miR-615-3p	CLIP-seq
MIRT982071	hsa-miR-940	CLIP-seq
MIRT981975	hsa-miR-1207-5p	CLIP-seq
MIRT982002	hsa-miR-3192	CLIP-seq
MIRT982024	hsa-miR-4514	CLIP-seq
MIRT982029	hsa-miR-4645-5p	CLIP-seq
MIRT982032	hsa-miR-4673	CLIP-seq
MIRT982035	hsa-miR-4692	CLIP-seq
MIRT982040	hsa-miR-4755-3p	CLIP-seq
MIRT982043	hsa-miR-4763-3p	CLIP-seq
MIRT2225180	hsa-miR-4799-5p	CLIP-seq
MIRT982064	hsa-miR-615-3p	CLIP-seq
MIRT982071	hsa-miR-940	CLIP-seq
MIRT981975	hsa-miR-1207-5p	CLIP-seq
MIRT981980	hsa-miR-1299	CLIP-seq
MIRT1991071	hsa-miR-141	CLIP-seq
MIRT2387764	hsa-miR-193a-3p	CLIP-seq
MIRT2387765	hsa-miR-193b	CLIP-seq
MIRT1991072	hsa-miR-200a	CLIP-seq
MIRT981984	hsa-miR-2053	CLIP-seq
MIRT982003	hsa-miR-323-5p	CLIP-seq
MIRT982008	hsa-miR-361-5p	CLIP-seq
MIRT982024	hsa-miR-4514	CLIP-seq
MIRT982026	hsa-miR-4527	CLIP-seq
MIRT982029	hsa-miR-4645-5p	CLIP-seq
MIRT982032	hsa-miR-4673	CLIP-seq
MIRT982035	hsa-miR-4692	CLIP-seq
MIRT982040	hsa-miR-4755-3p	CLIP-seq
MIRT982043	hsa-miR-4763-3p	CLIP-seq
MIRT982064	hsa-miR-615-3p	CLIP-seq
MIRT982068	hsa-miR-875-3p	CLIP-seq
MIRT982069	hsa-miR-876-3p	CLIP-seq
MIRT982071	hsa-miR-940	CLIP-seq
MIRT982034	hsa-miR-4690-3p	CLIP-seq
MIRT982070	hsa-miR-885-3p	CLIP-seq
MIRT982034	hsa-miR-4690-3p	CLIP-seq
MIRT982070	hsa-miR-885-3p	CLIP-seq
MIRT2449225	hsa-miR-410	CLIP-seq
MIRT2449226	hsa-miR-4717-5p	CLIP-seq
MIRT2449227	hsa-miR-4753-5p	CLIP-seq
MIRT2528669	hsa-miR-1179	CLIP-seq
MIRT981978	hsa-miR-1273d	CLIP-seq
MIRT2528670	hsa-miR-1273e	CLIP-seq
MIRT981979	hsa-miR-1279	CLIP-seq
MIRT981982	hsa-miR-137	CLIP-seq
MIRT2528671	hsa-miR-218	CLIP-seq
MIRT2528672	hsa-miR-25	CLIP-seq
MIRT2528673	hsa-miR-299-5p	CLIP-seq
MIRT2528674	hsa-miR-3147	CLIP-seq
MIRT2528675	hsa-miR-3170	CLIP-seq
MIRT2528676	hsa-miR-32	CLIP-seq
MIRT2528677	hsa-miR-363	CLIP-seq
MIRT2528678	hsa-miR-367	CLIP-seq
MIRT982021	hsa-miR-4325	CLIP-seq
MIRT2528679	hsa-miR-4425	CLIP-seq
MIRT982028	hsa-miR-4645-3p	CLIP-seq
MIRT982034	hsa-miR-4690-3p	CLIP-seq
MIRT982050	hsa-miR-514	CLIP-seq
MIRT982051	hsa-miR-514b-3p	CLIP-seq
MIRT2528680	hsa-miR-629	CLIP-seq
MIRT2528681	hsa-miR-636	CLIP-seq
MIRT982070	hsa-miR-885-3p	CLIP-seq
MIRT2528682	hsa-miR-92a	CLIP-seq
MIRT2528683	hsa-miR-92b	CLIP-seq
MIRT2680583	hsa-miR-3163	CLIP-seq
MIRT2680584	hsa-miR-4427	CLIP-seq
MIRT2680585	hsa-miR-4490	CLIP-seq
MIRT2680586	hsa-miR-4774-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0014032	Process	Neural crest cell development	IEA
GO:0014032	Process	Neural crest cell development	ISS
GO:0031048	Process	Regulatory ncRNA-mediated heterochromatin formation	IBA
GO:0035197	Function	SiRNA binding	IBA

Other IDs

• MIM: 621249
• HGNC: 25365
• e!Ensembl: ENSG00000113391

Protein

• UniProt ID: Q8WUF8
• Protein name: Cotranscriptional regulator ARB2A (ARB2 cotranscriptional regulator A) (Cotranscriptional regulator FAM172A) (Protein FAM172A)
• Protein function: Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity. {ECO:0000250|UniPro
• Sequence:

  MSISLSSLILLPIWINMAQIQQGGPDEKEKTTALKDLLSRIDLDELMKKDEPPLDFPDTL
  EGFEYAFNEKGQLRHIKTGEPFVFNYREDLHRWNQKRYEALGEIITKYVYELLEKDCNLK
  KVSIPVDATESEPKSFIFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGTQ
  IPFIKRAVAEGYGVIVLNPNENYIEVEKPKIHVQSSSDSSDEPAEKRERKDKVSKETKKR
  RDFYEKYRNPQREKEMMQLYIRENGSPEEHAIYVWDHFIAQAAAENVFFVAHSYGGLAFV
  ELMIQREADVKNKVTAVALTDSVHNVWHQEAGKTIREWMRENCCNWVSSSEPLDTSVESM
  LPDCPRVSAGTDRHELTSWKSFPSIFKFFTEASEAKTSSLKPAVTRRSHRIKHEEL

• Sequence length: 416

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
CHARGE Syndrome	CHARGE Syndrome	BEFREE	29311329		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	37221016	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26676844		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26637224, 28408845, 28618931, 28927116		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26676844, 28618931, 37264959	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31988090	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28408845		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26676844		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26637224, 28408845, 28440497, 28618931, 28927116		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31988090, 36014414	Associate	★☆☆☆☆ Found in Text Mining only