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	10054
Gene name	Ubiquitin like modifier activating enzyme 2
Gene symbol	UBA2
Synonyms (NCBI Gene)	ACCESARXHRIHFB2115SAE2
Chromosome	19
Chromosome location	19q13.11
Summary	Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUM

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1555731122	->T	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant, non coding transcript variant

172

Show/Hide all (172)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020821	hsa-miR-155-5p	Proteomics	18668040
MIRT050074	hsa-miR-26a-5p	CLASH	23622248
MIRT048652	hsa-miR-99a-5p	CLASH	23622248
MIRT048403	hsa-miR-100-5p	CLASH	23622248
MIRT048403	hsa-miR-100-5p	CLASH	23622248
MIRT047397	hsa-miR-34a-5p	CLASH	23622248
MIRT047313	hsa-miR-181a-5p	CLASH	23622248
MIRT042245	hsa-miR-484	CLASH	23622248
MIRT038749	hsa-miR-93-3p	CLASH	23622248
MIRT038231	hsa-miR-330-5p	CLASH	23622248
MIRT036571	hsa-miR-941	CLASH	23622248
MIRT081957	hsa-miR-133a-3p	In situ hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot	24715690
MIRT081957	hsa-miR-133a-3p	In situ hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot	24715690
MIRT510584	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT510583	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT510582	hsa-miR-6843-3p	PAR-CLIP	23446348
MIRT510581	hsa-miR-6848-3p	PAR-CLIP	23446348
MIRT510580	hsa-miR-5096	PAR-CLIP	23446348
MIRT510584	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT510583	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT510582	hsa-miR-6843-3p	PAR-CLIP	23446348
MIRT510581	hsa-miR-6848-3p	PAR-CLIP	23446348
MIRT510580	hsa-miR-5096	PAR-CLIP	23446348
MIRT510584	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT510583	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT510582	hsa-miR-6843-3p	PAR-CLIP	23446348
MIRT510581	hsa-miR-6848-3p	PAR-CLIP	23446348
MIRT510580	hsa-miR-5096	PAR-CLIP	23446348
MIRT510584	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT510583	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT510582	hsa-miR-6843-3p	PAR-CLIP	23446348
MIRT510581	hsa-miR-6848-3p	PAR-CLIP	23446348
MIRT510580	hsa-miR-5096	PAR-CLIP	23446348
MIRT1466351	hsa-miR-1303	CLIP-seq
MIRT1466352	hsa-miR-133a	CLIP-seq
MIRT1466353	hsa-miR-133b	CLIP-seq
MIRT1466354	hsa-miR-1913	CLIP-seq
MIRT1466355	hsa-miR-194	CLIP-seq
MIRT1466356	hsa-miR-204	CLIP-seq
MIRT1466357	hsa-miR-211	CLIP-seq
MIRT1466358	hsa-miR-3121-3p	CLIP-seq
MIRT1466359	hsa-miR-3143	CLIP-seq
MIRT1466360	hsa-miR-323-3p	CLIP-seq
MIRT1466361	hsa-miR-324-3p	CLIP-seq
MIRT1466362	hsa-miR-3685	CLIP-seq
MIRT1466363	hsa-miR-371-3p	CLIP-seq
MIRT1466364	hsa-miR-371b-3p	CLIP-seq
MIRT1466365	hsa-miR-376c	CLIP-seq
MIRT1466366	hsa-miR-3937	CLIP-seq
MIRT1466367	hsa-miR-3941	CLIP-seq
MIRT1466368	hsa-miR-4446-5p	CLIP-seq
MIRT1466369	hsa-miR-4652-3p	CLIP-seq
MIRT1466370	hsa-miR-466	CLIP-seq
MIRT1466371	hsa-miR-4672	CLIP-seq
MIRT1466372	hsa-miR-4727-5p	CLIP-seq
MIRT1466373	hsa-miR-4729	CLIP-seq
MIRT1466374	hsa-miR-4731-3p	CLIP-seq
MIRT1466375	hsa-miR-4738-3p	CLIP-seq
MIRT1466376	hsa-miR-4755-5p	CLIP-seq
MIRT1466377	hsa-miR-4801	CLIP-seq
MIRT1466378	hsa-miR-490-3p	CLIP-seq
MIRT1466379	hsa-miR-515-3p	CLIP-seq
MIRT1466380	hsa-miR-519e	CLIP-seq
MIRT1466381	hsa-miR-543	CLIP-seq
MIRT1466382	hsa-miR-548a-3p	CLIP-seq
MIRT1466383	hsa-miR-548ac	CLIP-seq
MIRT1466384	hsa-miR-548ae	CLIP-seq
MIRT1466385	hsa-miR-548aj	CLIP-seq
MIRT1466386	hsa-miR-548am	CLIP-seq
MIRT1466387	hsa-miR-548d-3p	CLIP-seq
MIRT1466388	hsa-miR-548e	CLIP-seq
MIRT1466389	hsa-miR-548f	CLIP-seq
MIRT1466390	hsa-miR-548g	CLIP-seq
MIRT1466391	hsa-miR-548x	CLIP-seq
MIRT1466392	hsa-miR-548z	CLIP-seq
MIRT1466393	hsa-miR-570	CLIP-seq
MIRT1466394	hsa-miR-577	CLIP-seq
MIRT1466395	hsa-miR-600	CLIP-seq
MIRT1466396	hsa-miR-623	CLIP-seq
MIRT1466397	hsa-miR-626	CLIP-seq
MIRT1466398	hsa-miR-649	CLIP-seq
MIRT1466399	hsa-miR-877	CLIP-seq
MIRT1466400	hsa-miR-889	CLIP-seq
MIRT1466359	hsa-miR-3143	CLIP-seq
MIRT1466363	hsa-miR-371-3p	CLIP-seq
MIRT1466364	hsa-miR-371b-3p	CLIP-seq
MIRT1466365	hsa-miR-376c	CLIP-seq
MIRT1466366	hsa-miR-3937	CLIP-seq
MIRT1466379	hsa-miR-515-3p	CLIP-seq
MIRT1466380	hsa-miR-519e	CLIP-seq
MIRT2140202	hsa-miR-548an	CLIP-seq
MIRT1466393	hsa-miR-570	CLIP-seq
MIRT2360935	hsa-miR-1297	CLIP-seq
MIRT2360936	hsa-miR-1305	CLIP-seq
MIRT2360937	hsa-miR-132	CLIP-seq
MIRT1466356	hsa-miR-204	CLIP-seq
MIRT1466357	hsa-miR-211	CLIP-seq
MIRT2360938	hsa-miR-212	CLIP-seq
MIRT2360939	hsa-miR-217	CLIP-seq
MIRT2360940	hsa-miR-224	CLIP-seq
MIRT2360941	hsa-miR-26a	CLIP-seq
MIRT2360942	hsa-miR-26b	CLIP-seq
MIRT2360943	hsa-miR-3120-3p	CLIP-seq
MIRT1466359	hsa-miR-3143	CLIP-seq
MIRT2360944	hsa-miR-3160-5p	CLIP-seq
MIRT2360945	hsa-miR-3168	CLIP-seq
MIRT2360946	hsa-miR-3646	CLIP-seq
MIRT2360947	hsa-miR-3662	CLIP-seq
MIRT1466362	hsa-miR-3685	CLIP-seq
MIRT2360948	hsa-miR-4277	CLIP-seq
MIRT2360949	hsa-miR-4418	CLIP-seq
MIRT1466368	hsa-miR-4446-5p	CLIP-seq
MIRT2360950	hsa-miR-4465	CLIP-seq
MIRT2360951	hsa-miR-4468	CLIP-seq
MIRT2360952	hsa-miR-4698	CLIP-seq
MIRT2360953	hsa-miR-4711-3p	CLIP-seq
MIRT1466376	hsa-miR-4755-5p	CLIP-seq
MIRT2360954	hsa-miR-498	CLIP-seq
MIRT2360955	hsa-miR-509-3-5p	CLIP-seq
MIRT2360956	hsa-miR-509-5p	CLIP-seq
MIRT1466381	hsa-miR-543	CLIP-seq
MIRT2360957	hsa-miR-548p	CLIP-seq
MIRT1466393	hsa-miR-570	CLIP-seq
MIRT2360958	hsa-miR-607	CLIP-seq
MIRT1466396	hsa-miR-623	CLIP-seq
MIRT1466397	hsa-miR-626	CLIP-seq
MIRT1466393	hsa-miR-570	CLIP-seq
MIRT2654443	hsa-miR-153	CLIP-seq
MIRT1466359	hsa-miR-3143	CLIP-seq
MIRT1466360	hsa-miR-323-3p	CLIP-seq
MIRT2654444	hsa-miR-3682-5p	CLIP-seq
MIRT1466363	hsa-miR-371-3p	CLIP-seq
MIRT1466364	hsa-miR-371b-3p	CLIP-seq
MIRT1466365	hsa-miR-376c	CLIP-seq
MIRT1466366	hsa-miR-3937	CLIP-seq
MIRT1466367	hsa-miR-3941	CLIP-seq
MIRT1466370	hsa-miR-466	CLIP-seq
MIRT1466371	hsa-miR-4672	CLIP-seq
MIRT1466379	hsa-miR-515-3p	CLIP-seq
MIRT1466380	hsa-miR-519e	CLIP-seq
MIRT1466381	hsa-miR-543	CLIP-seq
MIRT1466383	hsa-miR-548ac	CLIP-seq
MIRT1466384	hsa-miR-548ae	CLIP-seq
MIRT1466385	hsa-miR-548aj	CLIP-seq
MIRT1466386	hsa-miR-548am	CLIP-seq
MIRT1466387	hsa-miR-548d-3p	CLIP-seq
MIRT1466391	hsa-miR-548x	CLIP-seq
MIRT1466392	hsa-miR-548z	CLIP-seq
MIRT1466393	hsa-miR-570	CLIP-seq
MIRT1466400	hsa-miR-889	CLIP-seq
MIRT2654443	hsa-miR-153	CLIP-seq
MIRT1466359	hsa-miR-3143	CLIP-seq
MIRT1466360	hsa-miR-323-3p	CLIP-seq
MIRT1466363	hsa-miR-371-3p	CLIP-seq
MIRT1466364	hsa-miR-371b-3p	CLIP-seq
MIRT1466365	hsa-miR-376c	CLIP-seq
MIRT1466366	hsa-miR-3937	CLIP-seq
MIRT1466367	hsa-miR-3941	CLIP-seq
MIRT1466370	hsa-miR-466	CLIP-seq
MIRT1466371	hsa-miR-4672	CLIP-seq
MIRT1466379	hsa-miR-515-3p	CLIP-seq
MIRT1466380	hsa-miR-519e	CLIP-seq
MIRT1466381	hsa-miR-543	CLIP-seq
MIRT1466383	hsa-miR-548ac	CLIP-seq
MIRT1466384	hsa-miR-548ae	CLIP-seq
MIRT1466385	hsa-miR-548aj	CLIP-seq
MIRT1466386	hsa-miR-548am	CLIP-seq
MIRT1466387	hsa-miR-548d-3p	CLIP-seq
MIRT1466391	hsa-miR-548x	CLIP-seq
MIRT1466392	hsa-miR-548z	CLIP-seq
MIRT1466393	hsa-miR-570	CLIP-seq
MIRT1466400	hsa-miR-889	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IMP	15660128
GO:0005515	Function	Protein binding	IPI	10187858, 15660128, 15983381, 16189514, 17643372, 20164921, 25416956, 26496610, 28514442, 31515488, 32296183, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	15660128
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0008641	Function	Ubiquitin-like modifier activating enzyme activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	IBA
GO:0016925	Process	Protein sumoylation	IDA	20164921
GO:0016925	Process	Protein sumoylation	IEA
GO:0016925	Process	Protein sumoylation	IMP	15660128, 21968017
GO:0016925	Process	Protein sumoylation	TAS
GO:0019948	Function	SUMO activating enzyme activity	IBA
GO:0019948	Function	SUMO activating enzyme activity	IDA	10187858
GO:0019948	Function	SUMO activating enzyme activity	IDA	20164921
GO:0019948	Function	SUMO activating enzyme activity	IEA
GO:0019948	Function	SUMO activating enzyme activity	TAS
GO:0031510	Component	SUMO activating enzyme complex	IBA
GO:0031510	Component	SUMO activating enzyme complex	IDA	10187858, 15660128, 20164921
GO:0031510	Component	SUMO activating enzyme complex	IEA
GO:0031510	Component	SUMO activating enzyme complex	IPI	15660128
GO:0032183	Function	SUMO binding	IPI	15660128
GO:0033235	Process	Positive regulation of protein sumoylation	IDA	10187858
GO:0044388	Function	Small protein activating enzyme binding	IPI	15660128
GO:0044390	Function	Ubiquitin-like protein conjugating enzyme binding	IPI	15660128
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	20164921

MIM	HGNC	e!Ensembl
613295	30661	ENSG00000126261

Q9UBT2

Protein name

SUMO-activating enzyme subunit 2 (EC 2.3.2.-) (Anthracycline-associated resistance ARX) (Ubiquitin-like 1-activating enzyme E1B) (Ubiquitin-like modifier-activating enzyme 2)

Protein function

The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue

PDB

1Y8Q , 1Y8R , 2PX9 , 3KYC , 3KYD , 4W5V , 5FQ2 , 6CWY , 6CWZ , 6XOG , 6XOH , 6XOI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00899	ThiF	3 → 443	ThiF family	Domain
PF14732	UAE_UbL	452 → 538	Ubiquitin/SUMO-activating enzyme ubiquitin-like domain	Domain
PF16195	UBA2_C	549 → 636	SUMO-activating enzyme subunit 2 C-terminus	Domain

Sequence

MALSRGLPRELAEAVAGGRVLVVGAGGIGCELLKNLVLTGFSHIDLIDLDTIDVSNLNRQ
FLFQKKHVGRSKAQVAKESVLQFYPKANIVAYHDSIMNPDYNVEFFRQFILVMNALDNRA
ARNHVNRMCLAADVPLIESGTAGYLGQVTTIKKGVTECYECHPKPTQRTFPGCTIRNTPS
EPIHCIVWAKYLFNQLFGEEDADQEVSPDRADPEAAWEPTEAEARARASNEDGDIKRIST
KEWAKSTGYDPVKLFTKLFKDDIRYLLTMDKLWRKRKPPVPLDWAEVQSQGEETNASDQQ
NEPQLGLKDQQVLDVKSYARLFSKSIETLRVHLAEKGDGAELIWDKDDPSAMDFVTSAAN
LRMHIFSMNMKSRFDIKSMAGNIIPAIATTNAVIAGLIVLEGLKILSGKIDQCRTIFLNK
QPNPRKKLLVPCALDPPNPNCYVCASKPEVTVRLNVHKVTVLTLQDKIVKEKFAMVAPDV
QIEDGKGTILISSEEGETEANNHKKLSEFGIRNGSRLQADDFLQDYTLLINILHSEDLGK
DVEFEVVGDAPEKVGPKQAEDAAKSITNGSDDGAQPSTSTAQEQDDVLIVDSDEEDSSNN
ADVSEEERSRKRKLDEKENLSAKRSRIEQKEELDDVIALD

Sequence length

640

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		SUMO is conjugated to E1 (UBA2:SAE1) SUMO is transferred from E1 to E2 (UBE2I, UBC9)

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 Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACCES syndrome	Pathogenic; Likely pathogenic	rs2145557980, rs2145491684, rs2145516660, rs2513965312, rs2513944405, rs2513935979, rs1555729503, rs1599889628, rs2075211884, rs2075619600	RCV002266562 RCV002266563 RCV002266564 RCV003228883 RCV003885416 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chromosome 19q13.11 deletion syndrome, distal	Pathogenic	rs2075478466	RCV001255700	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UBA2-related disorder	Likely pathogenic; Pathogenic	rs2513965734, rs1599889628	RCV004545867 RCV001823006	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

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.
APLASIA CUTIS CONGENITA	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectrodactyly	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29855336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28110515		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	27512948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30848500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28054337, 29744931, 30387828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	34159400	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukemia	Leukemia	Pubtator	34982829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30179602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities Congenital	Congenital anomaly of limb	Pubtator	34159400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33883344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22157079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30848500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30479464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25860128, 26063074, 30848500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35338347, 40389878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	29845587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22157079, 25860128, 26063074, 30848500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30848500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	30140893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26063074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37056932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30479464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30479464	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

UBA2 (ubiquitin like modifier activating enzyme 2)