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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55075
Gene name	Uveal autoantigen with coiled-coil domains and ankyrin repeats
Gene symbol	UACA
Synonyms (NCBI Gene)	NUCLING
Chromosome	15
Chromosome location	15q23
Summary	This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution,

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024757	hsa-miR-215-5p	Microarray	19074876
MIRT026209	hsa-miR-192-5p	Microarray	19074876
MIRT046407	hsa-miR-15b-5p	CLASH	23622248
MIRT036623	hsa-miR-940	CLASH	23622248
MIRT686411	hsa-miR-4438	HITS-CLIP	23313552
MIRT686410	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT686409	hsa-miR-6840-5p	HITS-CLIP	23313552
MIRT686408	hsa-miR-4707-5p	HITS-CLIP	23313552
MIRT686407	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT686406	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT686405	hsa-miR-5095	HITS-CLIP	23313552
MIRT686404	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT686403	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT686402	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT686411	hsa-miR-4438	HITS-CLIP	23313552
MIRT686410	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT686409	hsa-miR-6840-5p	HITS-CLIP	23313552
MIRT686408	hsa-miR-4707-5p	HITS-CLIP	23313552
MIRT686407	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT686406	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT686405	hsa-miR-5095	HITS-CLIP	23313552
MIRT686404	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT686403	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT686402	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466123	hsa-miR-1911	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466125	hsa-miR-1976	CLIP-seq
MIRT1466126	hsa-miR-4279	CLIP-seq
MIRT1466127	hsa-miR-4284	CLIP-seq
MIRT1466128	hsa-miR-4421	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT1466130	hsa-miR-4740-3p	CLIP-seq
MIRT1466131	hsa-miR-4772-3p	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq
MIRT1466133	hsa-miR-1245b-3p	CLIP-seq
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466134	hsa-miR-1297	CLIP-seq
MIRT1466135	hsa-miR-142-5p	CLIP-seq
MIRT1466136	hsa-miR-186	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466125	hsa-miR-1976	CLIP-seq
MIRT1466137	hsa-miR-2110	CLIP-seq
MIRT1466138	hsa-miR-24	CLIP-seq
MIRT1466139	hsa-miR-26a	CLIP-seq
MIRT1466140	hsa-miR-26b	CLIP-seq
MIRT1466141	hsa-miR-3144-3p	CLIP-seq
MIRT1466142	hsa-miR-3162-5p	CLIP-seq
MIRT1466143	hsa-miR-3613-3p	CLIP-seq
MIRT1466144	hsa-miR-3663-5p	CLIP-seq
MIRT1466145	hsa-miR-3680	CLIP-seq
MIRT1466146	hsa-miR-4256	CLIP-seq
MIRT1466147	hsa-miR-4271	CLIP-seq
MIRT1466126	hsa-miR-4279	CLIP-seq
MIRT1466127	hsa-miR-4284	CLIP-seq
MIRT1466148	hsa-miR-4287	CLIP-seq
MIRT1466149	hsa-miR-4307	CLIP-seq
MIRT1466150	hsa-miR-4330	CLIP-seq
MIRT1466128	hsa-miR-4421	CLIP-seq
MIRT1466151	hsa-miR-4465	CLIP-seq
MIRT1466152	hsa-miR-4469	CLIP-seq
MIRT1466153	hsa-miR-4504	CLIP-seq
MIRT1466154	hsa-miR-4635	CLIP-seq
MIRT1466155	hsa-miR-4653-3p	CLIP-seq
MIRT1466156	hsa-miR-4685-3p	CLIP-seq
MIRT1466157	hsa-miR-4713-5p	CLIP-seq
MIRT1466158	hsa-miR-4725-3p	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT1466130	hsa-miR-4740-3p	CLIP-seq
MIRT1466159	hsa-miR-4753-5p	CLIP-seq
MIRT1466131	hsa-miR-4772-3p	CLIP-seq
MIRT1466160	hsa-miR-4780	CLIP-seq
MIRT1466161	hsa-miR-493	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq
MIRT1466162	hsa-miR-513c	CLIP-seq
MIRT1466163	hsa-miR-514b-5p	CLIP-seq
MIRT1466164	hsa-miR-561	CLIP-seq
MIRT1466165	hsa-miR-591	CLIP-seq
MIRT1466166	hsa-miR-623	CLIP-seq
MIRT1466167	hsa-miR-630	CLIP-seq
MIRT1466168	hsa-miR-634	CLIP-seq
MIRT1466169	hsa-miR-944	CLIP-seq
MIRT1466123	hsa-miR-1911	CLIP-seq
MIRT2140174	hsa-miR-3682-5p	CLIP-seq
MIRT2140175	hsa-miR-4699-3p	CLIP-seq
MIRT1466130	hsa-miR-4740-3p	CLIP-seq
MIRT2140176	hsa-miR-496	CLIP-seq
MIRT2140177	hsa-miR-619	CLIP-seq
MIRT2140178	hsa-miR-759	CLIP-seq
MIRT2140179	hsa-miR-3910	CLIP-seq
MIRT2140177	hsa-miR-619	CLIP-seq
MIRT2360858	hsa-miR-34a	CLIP-seq
MIRT2360859	hsa-miR-34c-5p	CLIP-seq
MIRT2360860	hsa-miR-3677-5p	CLIP-seq
MIRT2360861	hsa-miR-449a	CLIP-seq
MIRT2360862	hsa-miR-449b	CLIP-seq
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466123	hsa-miR-1911	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466138	hsa-miR-24	CLIP-seq
MIRT2360858	hsa-miR-34a	CLIP-seq
MIRT2360859	hsa-miR-34c-5p	CLIP-seq
MIRT2360860	hsa-miR-3677-5p	CLIP-seq
MIRT1466127	hsa-miR-4284	CLIP-seq
MIRT2360861	hsa-miR-449a	CLIP-seq
MIRT2360862	hsa-miR-449b	CLIP-seq
MIRT2360863	hsa-miR-4539	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT2360864	hsa-miR-4762-3p	CLIP-seq
MIRT1466131	hsa-miR-4772-3p	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq
MIRT2140177	hsa-miR-619	CLIP-seq
MIRT2140174	hsa-miR-3682-5p	CLIP-seq
MIRT2140175	hsa-miR-4699-3p	CLIP-seq
MIRT2140176	hsa-miR-496	CLIP-seq
MIRT2140178	hsa-miR-759	CLIP-seq
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466125	hsa-miR-1976	CLIP-seq
MIRT1466126	hsa-miR-4279	CLIP-seq
MIRT1466128	hsa-miR-4421	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq
MIRT2654425	hsa-miR-548c-3p	CLIP-seq
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466125	hsa-miR-1976	CLIP-seq
MIRT1466126	hsa-miR-4279	CLIP-seq
MIRT1466128	hsa-miR-4421	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	17003112, 25416956, 28514442, 31413325, 32296183, 33961781
GO:0005576	Component	Extracellular region	NAS	11162650
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IBA

MIM	HGNC	e!Ensembl
612516	15947	ENSG00000137831

Q9BZF9

Protein name

Uveal autoantigen with coiled-coil domains and ankyrin repeats

Protein function

Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regul

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	38 → 129	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	72 → 164	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	116 → 197	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	166 → 230	Ankyrin repeats (3 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in choroid, retina and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells. {ECO:0000269|PubMed:11162650, ECO:0000269|PubMed:15358194}.

Sequence

MKSLKSRLRRQDVPGPASSGAAAASAHAADWNKYDDRLMKAAERGDVEKVTSILAKKGVN
PGKLDVEGRSVFHVVTSKGNLECLNAILIHGVDITTSDTAGRNALHLAAKYGHALCLQKL
LQYNCPTEHADLQGRTALHDAAMADCPSSIQLLCDHGASVNAKDVDGRTPLVLATQMSRP
TICQLLIDRGADVNSRDKQNRTALMLGCEYGCRDAVEVLIKNGADISLLDALGHDSSYYA
RIGDNLDILTLLKTASENTNKGRELWKKGPSLQQRNLTHMQDEVNVKSHQREHQNIQDLE
IENEDLKERLRKIQQEQRILLDKVNGLQLQLNEEVMVADDLESEREKLKSLLAAKEKQHE
ESLRTIEALKNRFKYFESDHLGSGSHFSNRKEDMLLKQGQMYMADSQCTSPGIPAHMQSR
SMLRPLELSLPSQTSYSENEILKKELEAMRTFCESAKQDRLKLQNELAHKVAECKALALE
CERVKEDSDEQIKQLEDALKDVQKRMYESEGKVKQMQTHFLALKEHLTSEAASGNHRLTE
ELKDQLKDLKVKYEGASAEVGKLRNQIKQNEMIVEEFKRDEGKLIEENKRLQKELSMCEM
EREKKGRKVTEMEGQAKELSAKLALSIPAEKFENMKSSLSNEVNEKAKKLVEMEREHEKS
LSEIRQLKRELENVKAKLAQHVKPEEHEQVKSRLEQKSGELGKKITELTLKNQTLQKEIE
KVYLDNKLLKEQAHNLTIEMKNHYVPLKVSEDMKKSHDAIIDDLNRKLLDVTQKYTEKKL
EMEKLLLENDSLSKDVSRLETVFVPPEKHEKEIIALKSNIVELKKQLSELKKKCGEDQEK
IHALTSENTNLKKMMSNQYVPVKTHEEVKMTLNDTLAKTNRELLDVKKKFEDINQEFVKI
KDKNEILKRNLENTQNQIKAEYISLAEHEAKMSSLSQSMRKVQDSNAEILANYRKGQEEI
VTLHAEIKAQKKELDTIQECIKVKYAPIVSFEECERKFKATEKELKDQLSEQTQKYSVSE
EEVKKNKQENDKLKKEIFTLQKDLRDKTVLIEKSHEMERALSRKTDELNKQLKDLSQKYT
EVKNVKEKLVEENAKQTSEILAVQNLLQKQHVPLEQVEALKKSLNGTIENLKEELKSMQR
CYEKEQQTVTKLHQLLENQKNSSVPLAEHLQIKEAFEKEVGIIKASLREKEEESQNKMEE
VSKLQSEVQNTKQALKKLETREVVDLSKYKATKSDLETQISSLNEKLANLNRKYEEVCEE
VLHAKKKEISAKDEKELLHFSIEQEIKDQKERCDKSLTTITELQRRIQESAKQIEAKDNK
ITELLNDVERLKQALNGLSQLTYTSGNPTKRQSQLIDTLQHQVKSLEQQLADADRQHQEV
IAIYRTHLLSAAQGHMDEDVQEALLQIIQMRQGLVC

Sequence length

1416

Interactions

View interactions

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)

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ 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
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	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
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UACA-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32899691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24146633, 33294438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	15358194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	15358194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28813012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	15358194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	LHGDN	15358194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	15358194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	15358194		★★★★★ ★☆☆☆☆ Found in Text Mining only

UACA (uveal autoantigen with coiled-coil domains and ankyrin repeats)