UBALD2

Summary

UBALD2 (UBA like domain containing 2, HGNC:28438) is a protein-coding gene on chromosome 17q25.1, encoding UBA-like domain-containing protein 2 (Q8IYN6).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 29 total
• MANE Select transcript: NM_182565

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28438
Approved symbol	UBALD2
Name	UBA like domain containing 2
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC29814
Ensembl gene	ENSG00000185262
Ensembl biotype	protein_coding
Entrez	283991

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000327490, ENST00000587913, ENST00000589240, ENST00000864754

RefSeq mRNA: 1 — MANE Select: NM_182565 NM_182565

CCDS: CCDS11742

Canonical transcript exons

ENST00000327490 — 3 exons

Exon	Start	End
ENSE00001336160	76265348	76265625
ENSE00001348303	76270194	76271298
ENSE00003648698	76265907	76265969

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 98.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 143.2734 / max 1993.1790, expressed in 1826 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162823	110.0020	1824
162822	21.2243	1807
162821	9.8258	1687
162824	2.2214	1316

Top tissues by expression

254 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	98.47	gold quality
lower esophagus mucosa	UBERON:0035834	97.80	gold quality
blood	UBERON:0000178	97.73	gold quality
granulocyte	CL:0000094	97.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.26	gold quality
gastrocnemius	UBERON:0001388	96.60	gold quality
mucosa of transverse colon	UBERON:0004991	96.57	gold quality
right lung	UBERON:0002167	96.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.26	gold quality
leukocyte	CL:0000738	96.24	gold quality
monocyte	CL:0000576	96.20	gold quality
esophagus mucosa	UBERON:0002469	96.10	gold quality
bone marrow	UBERON:0002371	95.82	gold quality
ventricular zone	UBERON:0003053	95.56	gold quality
muscle of leg	UBERON:0001383	95.54	gold quality
vermiform appendix	UBERON:0001154	95.06	gold quality
spleen	UBERON:0002106	95.06	gold quality
upper lobe of left lung	UBERON:0008952	95.05	gold quality
skin of abdomen	UBERON:0001416	95.00	gold quality
ganglionic eminence	UBERON:0004023	94.95	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.88	gold quality
skin of leg	UBERON:0001511	94.73	gold quality
minor salivary gland	UBERON:0001830	94.66	gold quality
small intestine	UBERON:0002108	94.50	gold quality
body of stomach	UBERON:0001161	94.35	gold quality
cortical plate	UBERON:0005343	94.35	gold quality
upper lobe of lung	UBERON:0008948	94.07	gold quality
transverse colon	UBERON:0001157	93.95	gold quality
upper arm skin	UBERON:0004263	93.91	silver quality
tibialis anterior	UBERON:0001385	93.86	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.72
E-HCAD-13	yes	7.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting UBALD2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-6801-3P	98.04	64.64	805
HSA-MIR-6810-3P	97.96	64.57	1023
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-634	97.74	67.11	818
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-3184-3P	96.96	66.91	845
HSA-MIR-3657	96.33	66.29	608

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ubald2	ENSDARG00000115335
mus_musculus	Ubald2	ENSMUSG00000050628
rattus_norvegicus	Ubald2	ENSRNOG00000066106
rattus_norvegicus		ENSRNOG00000071008

Paralogs (1): UBALD1 (ENSG00000153443)

Protein

Protein identifiers

UBA-like domain-containing protein 2 — Q8IYN6 (reviewed: Q8IYN6)

All UniProt accessions (3): Q8IYN6, K7EMI7, K7ERK7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UBALD family.

RefSeq proteins (1): NP_872371* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009060	UBA-like_sf	Homologous_superfamily
IPR039310	UBALD1/2	Family
IPR054109	UBA_8	Domain

Pfam: PF22566

UniProt features (9 total): helix 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DZL	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYN6-F1	64.40	0.26

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 176 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, AP4_Q6, CAGCTG_AP4_Q5, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, AML_Q6, TGANTCA_AP1_C, APPIERTO_RESPONSE_TO_FENRETINIDE_DN, HNF1_C, DBP_Q6, RGAGGAARY_PU1_Q6, YYCATTCAWW_UNKNOWN, TGGAAA_NFAT_Q4_01, PAX6_01, MARSON_BOUND_BY_FOXP3_STIMULATED

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

278 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBALD2	CCDC150	Q8NCX0	516
UBALD2	EDEM2	Q9BV94	486
UBALD2	CCDC77	Q9BR77	477
UBALD2	NEMP1	O14524	458
UBALD2	ZNF738	Q8NE65	434
UBALD2	TMEM255B	Q8WV15	431
UBALD2	MAFK	O60675	421
UBALD2	CCDC34	Q96HJ3	410
UBALD2	CEP85	Q6P2H3	408
UBALD2	LSMEM1	Q8N8F7	400
UBALD2	TIGD1	Q96MW7	399
UBALD2	REEP4	Q9H6H4	394
UBALD2	GSTCD	Q8NEC7	390
UBALD2	DEPDC1B	Q8WUY9	389
UBALD2	RIBC2	Q9H4K1	388

IntAct

2 interactions, top by confidence:

A	B	Type	Score
UBALD2	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): UBALD2 (Affinity Capture-RNA), UBALD2 (Affinity Capture-RNA), ZNF217 (Affinity Capture-MS), ZNF430 (Affinity Capture-MS), GFAP (Affinity Capture-MS), HAL (Affinity Capture-MS), ALOXE3 (Affinity Capture-MS), A2ML1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0P0WFC8, E3VNM4, G4NID8, O04136, O17894, O22300, O24160, O49067, P14232, P23923, P24345, P41153, P43273, P46606, P46609, P46639, P48000, P48001, Q0JNL3, Q10PR4, Q28CH2, Q2QXL0, Q39140, Q39162, Q39163, Q39234, Q39237, Q40152, Q41558, Q43484, Q52MZ2, Q53Q70, Q5N7C7, Q5Z6N9, Q69T21, Q6F2N0, Q6H434, Q6H6Q7, Q6IVC2, Q6IVC3

Diamond homologs: Q502A3, Q5XGE4, Q6AXN0, Q6DD24, Q6DGM1, Q6IP57, Q6P3B2, Q8BQH4, Q8IYN6, Q8TB05

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

29 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

329 predictions. Top by Δscore:

Variant	Effect	Δscore
17:76265622:CGAGG:C	donor_loss	1.0000
17:76265623:GAGGT:G	donor_loss	1.0000
17:76265624:AGGT:A	donor_loss	1.0000
17:76265625:GGTGC:G	donor_loss	1.0000
17:76265966:GATG:G	donor_gain	1.0000
17:76265627:T:G	donor_loss	0.9900
17:76265967:ATGG:A	donor_loss	0.9800
17:76265968:TGGT:T	donor_loss	0.9800
17:76265970:GTA:G	donor_loss	0.9800
17:76265971:T:A	donor_loss	0.9800
17:76265626:G:GG	donor_gain	0.9700
17:76265905:A:AG	acceptor_gain	0.9700
17:76265906:G:GG	acceptor_gain	0.9700
17:76265906:GACC:G	acceptor_gain	0.9700
17:76266087:A:T	donor_gain	0.9700
17:76265970:G:GG	donor_gain	0.9600
17:76265623:GAG:G	donor_gain	0.9500
17:76266590:A:G	donor_gain	0.9500
17:76270193:GAT:G	acceptor_gain	0.9500
17:76270193:GATGT:G	acceptor_gain	0.9500
17:76265618:A:AG	donor_gain	0.9400
17:76265619:G:GG	donor_gain	0.9400
17:76265901:CCGCA:C	acceptor_loss	0.9400
17:76265902:CGCA:C	acceptor_loss	0.9400
17:76265903:GCA:G	acceptor_loss	0.9400
17:76265904:CA:C	acceptor_loss	0.9400
17:76266193:G:GT	donor_gain	0.9400
17:76270188:CCGCA:C	acceptor_loss	0.9400
17:76270189:CGCA:C	acceptor_loss	0.9400
17:76270190:GCAG:G	acceptor_loss	0.9400

AlphaMissense

1103 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:76265554:T:C	F17L	1.000
17:76265555:T:C	F17S	1.000
17:76265555:T:G	F17C	1.000
17:76265556:C:A	F17L	1.000
17:76265556:C:G	F17L	1.000
17:76265600:T:C	L32P	1.000
17:76265614:T:A	W37R	1.000
17:76265614:T:C	W37R	1.000
17:76265616:G:C	W37C	1.000
17:76265616:G:T	W37C	1.000
17:76265546:T:A	I14N	0.999
17:76265552:A:C	Q16P	0.999
17:76265566:G:C	A21P	0.999
17:76265569:G:C	G22R	0.999
17:76265570:G:A	G22D	0.999
17:76265570:G:T	G22V	0.999
17:76265600:T:A	L32Q	0.999
17:76265615:G:C	W37S	0.999
17:76265621:T:C	F39S	0.999
17:76265621:T:G	F39C	0.999
17:76265911:C:A	A42E	0.999
17:76265914:T:A	L43Q	0.999
17:76265914:T:C	L43P	0.999
17:76265916:A:C	S44R	0.999
17:76265918:C:A	S44R	0.999
17:76265918:C:G	S44R	0.999
17:76265922:T:C	F46L	0.999
17:76265924:C:A	F46L	0.999
17:76265924:C:G	F46L	0.999
17:76265926:T:C	F47S	0.999

dbSNP variants (sampled 300 via entrez): RS1000114880 (17:76268774 C>A,T), RS1000220434 (17:76269705 T>C), RS1000977398 (17:76264733 T>A,G), RS1001185954 (17:76267613 C>T), RS1001323081 (17:76268019 G>A), RS1001524200 (17:76263676 A>T), RS1002474630 (17:76265276 C>G,T), RS1002526891 (17:76265096 A>G,T), RS1002632155 (17:76270570 G>A), RS1002861150 (17:76266427 C>G), RS1002997057 (17:76266730 C>T), RS1003225812 (17:76264673 C>T), RS1003478211 (17:76266397 GT>G), RS1003496984 (17:76270984 A>C), RS1003530684 (17:76266175 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90020026_77	Hip index	3.000000e-11
GCST90020028_1605	Hip circumference adjusted for BMI	8.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases expression, decreases expression, decreases reaction, affects cotreatment	5
bisphenol A	affects expression, increases expression	2
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Acetaminophen	increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
dodecyldimethylamine oxide	increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
didecyldimethylammonium	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
K 7174	increases expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
bisphenol S	increases methylation	1
(+)-JQ1 compound	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	increases expression	1
Coumestrol	decreases expression	1
Demecolcine	increases expression	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.