ASB15

Summary

ASB15 (ankyrin repeat and SOCS box containing 15, HGNC:19767) is a protein-coding gene on chromosome 7q31.32, encoding Ankyrin repeat and SOCS box protein 15 (Q8WXK1). May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 142685 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 91 total
• MANE Select transcript: NM_001290258

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19767
Approved symbol	ASB15
Name	ankyrin repeat and SOCS box containing 15
Location	7q31.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ43370
Ensembl gene	ENSG00000146809
Ensembl biotype	protein_coding
OMIM	619757
Entrez	142685

Gene structure

Transcript identifiers

Ensembl transcripts: 53 — 53 protein_coding

ENST00000275699, ENST00000434204, ENST00000437535, ENST00000447789, ENST00000451215, ENST00000451558, ENST00000883309, ENST00000883310, ENST00000883311, ENST00000883312, ENST00000883313, ENST00000883314, ENST00000883315, ENST00000883316, ENST00000883317, ENST00000883318, ENST00000883319, ENST00000883320, ENST00000883321, ENST00000883322, ENST00000883323, ENST00000883324, ENST00000883325, ENST00000883326, ENST00000883327, ENST00000883328, ENST00000944011, ENST00000944012, ENST00000944013, ENST00000944014, ENST00000944015, ENST00000944016, ENST00000944017, ENST00000944018, ENST00000944019, ENST00000944020, ENST00000944021, ENST00000944022, ENST00000944023, ENST00000944024, ENST00000944025, ENST00000944026, ENST00000944027, ENST00000944028, ENST00000944029, ENST00000944030, ENST00000944031, ENST00000944032, ENST00000944033, ENST00000944034, ENST00000944035, ENST00000944036, ENST00000944037

RefSeq mRNA: 2 — MANE Select: NM_001290258 NM_001290258, NM_080928

CCDS: CCDS34742

Canonical transcript exons

ENST00000451215 — 12 exons

Exon	Start	End
ENSE00000977399	123627110	123627281
ENSE00001086542	123628864	123629434
ENSE00001136383	123629966	123630119
ENSE00001384078	123624569	123624814
ENSE00001592803	123608594	123608654
ENSE00001621957	123636809	123639481
ENSE00001743353	123604032	123604212
ENSE00001748037	123601821	123601914
ENSE00003712008	123614501	123614609
ENSE00003719759	123616221	123616273
ENSE00003743403	123617579	123617737
ENSE00003787794	123616364	123616495

Expression profiles

Bgee: expression breadth broad, 68 present calls, max score 91.21.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2240 / max 43.4780, expressed in 34 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80851	0.0991	27
80852	0.0662	26
204676	0.0587	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	91.21	gold quality
apex of heart	UBERON:0002098	88.54	gold quality
muscle of leg	UBERON:0001383	85.74	gold quality
gastrocnemius	UBERON:0001388	85.74	gold quality
heart left ventricle	UBERON:0002084	84.57	gold quality
cardiac ventricle	UBERON:0002082	83.76	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	83.64	gold quality
right atrium auricular region	UBERON:0006631	82.13	gold quality
cardiac atrium	UBERON:0002081	81.42	gold quality
skeletal muscle tissue	UBERON:0001134	81.35	gold quality
vastus lateralis	UBERON:0001379	81.01	gold quality
quadriceps femoris	UBERON:0001377	80.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.84	gold quality
heart	UBERON:0000948	77.11	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	76.02	silver quality
muscle tissue	UBERON:0002385	75.07	gold quality
biceps brachii	UBERON:0001507	74.53	silver quality
deltoid	UBERON:0001476	70.33	gold quality
sperm	CL:0000019	65.16	silver quality
buccal mucosa cell	CL:0002336	62.46	gold quality
heart right ventricle	UBERON:0002080	62.22	silver quality
endothelial cell	CL:0000115	60.98	gold quality
adult mammalian kidney	UBERON:0000082	58.06	gold quality
myocardium	UBERON:0002349	57.83	gold quality
body of tongue	UBERON:0011876	57.15	silver quality
gingival epithelium	UBERON:0001949	57.08	gold quality
seminal vesicle	UBERON:0000998	56.18	gold quality
amniotic fluid	UBERON:0000173	55.42	gold quality
gingiva	UBERON:0001828	55.36	gold quality
tongue	UBERON:0001723	55.26	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-75367	no	14.09
E-ANND-3	no	4.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

68 targeting ASB15, 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-432-3P	100.00	67.86	705
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4311	99.31	70.47	3041

Literature-anchored findings (GeneRIF, showing 3)

• ASB15 gene, consisting of 12 exons, was identified by using bio-informatics. (PMID:16012773)
• The apparent occurrence of an unusual TG 3’ splice site in intron 9 is critically discussed. (PMID:17672918)
• Genome-wide association study reveals two novel risk alleles for incident obstructive sleep apnea in the EPISONO cohort. (PMID:31786426)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	asb15a	ENSDARG00000045633
danio_rerio	asb15b	ENSDARG00000045863
mus_musculus	Asb15	ENSMUSG00000029685
rattus_norvegicus	Asb15	ENSRNOG00000006365

Paralogs (7): ASB4 (ENSG00000005981), ASB3 (ENSG00000115239), ASB10 (ENSG00000146926), ASB16 (ENSG00000161664), ASB18 (ENSG00000182177), MPHOSPH8 (ENSG00000196199), ASB14 (ENSG00000239388)

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 15 — Q8WXK1 (reviewed: Q8WXK1)

All UniProt accessions (4): Q8WXK1, A0A0C4DG46, A0A384NYV2, C9J956

UniProt curated annotations — full annotation on UniProt →

Function. May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ankyrin SOCS box (ASB) family.

RefSeq proteins (2): NP_001277187, NP_563616 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001496	SOCS_box	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR036036	SOCS_box-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF07525, PF12796, PF13606

UniProt features (14 total): repeat 9, sequence variant 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WXK1-F1	87.39	0.70

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 74 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GCANCTGNY_MYOD_Q6, CAGCAGG_MIR370, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MYOD_Q6, CUI_TCF21_TARGETS_2_DN, CAGCCTC_MIR4855P, chr7q31, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D

GO Biological Process (2): protein ubiquitination (GO:0016567), intracellular signal transduction (GO:0035556)

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

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein modification by small protein conjugation	1
intracellular anatomical structure	1
signal transduction	1
binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1218 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB15	LMOD2	Q6P5Q4	497
ASB15	IQUB	Q8NA54	492
ASB15	SLC13A1	Q9BZW2	491
ASB15	WDR49	Q8IV35	475
ASB15	KAAG1	Q9UBP8	474
ASB15	PLEKHH3	Q7Z736	454
ASB15	NDUFA5	Q16718	433
ASB15	ASB6	Q9NWX5	431
ASB15	CISH	Q9NSE2	421
ASB15	KLHL13	Q9P2N7	419
ASB15	CBY3	A6NI87	413
ASB15	GRIFIN	A4D1Z8	409
ASB15	SAXO1	Q8IYX7	387
ASB15	ASB4	Q9Y574	386
ASB15	IFT70A	Q86WT1	380

IntAct

41 interactions, top by confidence:

A	B	Type	Score
KANK2	ASB15	psi-mi:“MI:0915”(physical association)	0.560
LMO1	ASB15	psi-mi:“MI:0915”(physical association)	0.560
PRPF31	ASB15	psi-mi:“MI:0915”(physical association)	0.560
CCDC13	ASB15	psi-mi:“MI:0915”(physical association)	0.560
ASB15	ZNF587	psi-mi:“MI:0915”(physical association)	0.560
PRR35	ASB15	psi-mi:“MI:0915”(physical association)	0.560
MGC50722	ASB15	psi-mi:“MI:0915”(physical association)	0.560
ZFYVE26	ASB15	psi-mi:“MI:0915”(physical association)	0.560
GEM	ASB15	psi-mi:“MI:0915”(physical association)	0.560
ASB15	GPSM3	psi-mi:“MI:0915”(physical association)	0.560
USHBP1	ASB15	psi-mi:“MI:0915”(physical association)	0.560
KRT75	ASB15	psi-mi:“MI:0915”(physical association)	0.560
HDAC4	ASB15	psi-mi:“MI:0915”(physical association)	0.560
P		psi-mi:“MI:0914”(association)	0.350
KANK2	ASB15	psi-mi:“MI:0915”(physical association)	0.000
HDAC4	ASB15	psi-mi:“MI:0915”(physical association)	0.000
ZFYVE26	ASB15	psi-mi:“MI:0915”(physical association)	0.000
GEM	ASB15	psi-mi:“MI:0915”(physical association)	0.000
GPSM3	ASB15	psi-mi:“MI:0915”(physical association)	0.000
USHBP1	ASB15	psi-mi:“MI:0915”(physical association)	0.000
LMO1	ASB15	psi-mi:“MI:0915”(physical association)	0.000
PRPF31	ASB15	psi-mi:“MI:0915”(physical association)	0.000
CCDC13	ASB15	psi-mi:“MI:0915”(physical association)	0.000
ZNF587	ASB15	psi-mi:“MI:0915”(physical association)	0.000
PRR35	ASB15	psi-mi:“MI:0915”(physical association)	0.000
MGC50722	ASB15	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (33): ASB15 (Two-hybrid), ASB15 (Two-hybrid), ASB15 (Two-hybrid), ASB15 (Two-hybrid), PRR35 (Two-hybrid), GEM (Two-hybrid), LMO1 (Two-hybrid), KRT75 (Two-hybrid), KANK2 (Two-hybrid), ZNF587 (Two-hybrid), GPSM3 (Two-hybrid), CCDC13 (Two-hybrid), MGC50722 (Two-hybrid), ASB15 (Affinity Capture-MS), CUL5 (Affinity Capture-MS)

ESM2 similar proteins: A0JM56, A0JPI9, A2BFL2, A5PK13, A6H639, J9SQF3, O13066, P19686, P33402, Q02108, Q0VAA2, Q14BP6, Q15111, Q15813, Q3USB7, Q498T9, Q4R642, Q4V8D9, Q4ZHS0, Q5DU41, Q5FVQ9, Q5RAG3, Q5RBD9, Q5RJH2, Q5ZIJ9, Q5ZIU8, Q62688, Q68F79, Q6DN12, Q6GQN5, Q6NU09, Q6P9F7, Q6WRX3, Q7Z7L7, Q80ZJ6, Q8BG40, Q8CDU4, Q8CIR4, Q8CIV8, Q8HXA6

Diamond homologs: A2RUV0, A6NK59, O35516, P0C927, Q04721, Q3SX45, Q58CT0, Q5U2S6, Q8C6Y6, Q8HXA6, Q8K0L0, Q8VHS6, Q8WXK1, Q96Q27, Q9QW30, A2ARS0, C9JTQ0, Q3KP44, Q9W0T5, A6QR20, P20749, Q08DV6, Q4FE45, Q6KAE5, Q6NLQ8, Q7M6U3, Q9BQI6, Q9WV72, Q9Y575, Q9Z2F6, A2RT91, Q3V096, Q7Z5J8, Q8N9B4, Q9WV74, Q9Y576, Q9P2R3, Q9J519, A0A0R4IQZ2, A2AQH4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	84
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1762 predictions. Top by Δscore:

Variant	Effect	Δscore
7:123616491:GGATG:G	donor_gain	1.0000
7:123616492:GATGG:G	donor_gain	1.0000
7:123624556:A:AG	acceptor_gain	1.0000
7:123624557:A:G	acceptor_gain	1.0000
7:123624566:A:AG	acceptor_gain	1.0000
7:123624566:AAGCT:A	acceptor_gain	1.0000
7:123624567:A:G	acceptor_gain	1.0000
7:123624568:GCT:G	acceptor_gain	1.0000
7:123624813:AGGTA:A	donor_loss	1.0000
7:123624815:G:GG	donor_gain	1.0000
7:123624816:T:A	donor_loss	1.0000
7:123627105:GCCA:G	acceptor_loss	1.0000
7:123627106:CCAGG:C	acceptor_loss	1.0000
7:123627279:TCT:T	donor_gain	1.0000
7:123627280:CTG:C	donor_loss	1.0000
7:123627281:TGT:T	donor_loss	1.0000
7:123627282:G:GG	donor_gain	1.0000
7:123627282:GTGA:G	donor_loss	1.0000
7:123627283:T:G	donor_loss	1.0000
7:123627284:G:GC	donor_loss	1.0000
7:123627286:G:C	donor_loss	1.0000
7:123628862:A:AG	acceptor_gain	1.0000
7:123628863:G:GG	acceptor_gain	1.0000
7:123629230:T:G	acceptor_gain	1.0000
7:123614489:A:AG	acceptor_gain	0.9900
7:123614490:A:G	acceptor_gain	0.9900
7:123614494:T:G	acceptor_gain	0.9900
7:123614495:A:AG	acceptor_gain	0.9900
7:123614495:AT:A	acceptor_gain	0.9900
7:123614496:T:G	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000037413 (7:123583351 G>A), RS1000061682 (7:123599846 G>T), RS1000093336 (7:123617173 T>G), RS1000115003 (7:123599507 TC>T), RS1000176521 (7:123625655 A>G), RS1000181955 (7:123600418 G>C), RS1000209286 (7:123618696 T>C), RS1000295772 (7:123605974 A>C), RS1000376802 (7:123623312 A>G), RS1000529942 (7:123575363 T>A,C,G), RS1000532378 (7:123605407 A>C,G), RS1000638025 (7:123599282 A>G), RS1000641385 (7:123594858 G>C,T), RS1000706543 (7:123600732 G>A), RS1000717121 (7:123568524 G>A,T)

Disease associations

OMIM: gene MIM:619757 | 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
GCST004719_2	Left ventricular obstructive tract defect (inherited effect)	2.000000e-06
GCST006231_33	Mean arterial pressure	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006340	mean arterial pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
titanium dioxide	increases expression	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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