ASB13

Summary

ASB13 (ankyrin repeat and SOCS box containing 13, HGNC:19765) is a protein-coding gene on chromosome 10p15.1, encoding Ankyrin repeat and SOCS box protein 13 (Q8WXK3). 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.

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene.

Source: NCBI Gene 79754 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_024701

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19765
Approved symbol	ASB13
Name	ankyrin repeat and SOCS box containing 13
Location	10p15.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13134, MGC19879
Ensembl gene	ENSG00000196372
Ensembl biotype	protein_coding
OMIM	615055
Entrez	79754

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000357700, ENST00000459912, ENST00000479033, ENST00000482921, ENST00000493897, ENST00000904595, ENST00000955064, ENST00000955065

RefSeq mRNA: 1 — MANE Select: NM_024701 NM_024701

CCDS: CCDS7070

Canonical transcript exons

ENST00000357700 — 6 exons

Exon	Start	End
ENSE00003426984	5651213	5651363
ENSE00003624803	5652863	5653050
ENSE00003657370	5648970	5649104
ENSE00003676099	5638867	5640830
ENSE00003690841	5641770	5641961
ENSE00003850147	5666509	5666595

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 96.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9745 / max 67.2934, expressed in 1601 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
108107	2.8710	1350
108108	2.0699	1209
205715	0.0336	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	96.15	gold quality
right lobe of liver	UBERON:0001114	94.17	gold quality
nephron tubule	UBERON:0001231	93.78	gold quality
mucosa of transverse colon	UBERON:0004991	92.92	gold quality
lateral nuclear group of thalamus	UBERON:0002736	92.32	gold quality
metanephros cortex	UBERON:0010533	91.43	gold quality
kidney epithelium	UBERON:0004819	91.13	gold quality
mucosa of stomach	UBERON:0001199	90.53	gold quality
primary visual cortex	UBERON:0002436	90.29	gold quality
adult mammalian kidney	UBERON:0000082	90.28	gold quality
liver	UBERON:0002107	90.23	gold quality
cortex of kidney	UBERON:0001225	90.00	gold quality
tibia	UBERON:0000979	89.96	gold quality
duodenum	UBERON:0002114	89.86	gold quality
left adrenal gland cortex	UBERON:0035825	89.75	gold quality
left adrenal gland	UBERON:0001234	89.69	gold quality
gingival epithelium	UBERON:0001949	89.68	gold quality
metanephric glomerulus	UBERON:0004736	89.61	gold quality
right adrenal gland cortex	UBERON:0035827	89.48	gold quality
right adrenal gland	UBERON:0001233	89.43	gold quality
adrenal cortex	UBERON:0001235	89.37	gold quality
metanephros	UBERON:0000081	89.15	gold quality
renal glomerulus	UBERON:0000074	88.99	gold quality
adrenal gland	UBERON:0002369	88.73	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.47	gold quality
kidney	UBERON:0002113	88.41	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.10	gold quality
right frontal lobe	UBERON:0002810	88.01	gold quality
occipital lobe	UBERON:0002021	87.89	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.81	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

68 targeting ASB13, 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-3925-3P	100.00	69.95	1237
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-3120-3P	99.54	70.28	2669

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	asb13a.2	ENSDARG00000045765
danio_rerio	asb13a.1	ENSDARG00000079698
danio_rerio	asb13b	ENSDARG00000089833
mus_musculus	Asb13	ENSMUSG00000033781
rattus_norvegicus	Asb13	ENSRNOG00000017967

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 13 — Q8WXK3 (reviewed: Q8WXK3)

All UniProt accessions (1): Q8WXK3

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WXK3-1	1	yes
Q8WXK3-2	2

RefSeq proteins (1): NP_078977* (*=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
IPR037334	ASB13_SOCS	Domain
IPR051573	Ankyrin-SOCS_box_domain	Family

Pfam: PF07525, PF12796, PF13637

UniProt features (12 total): repeat 6, sequence conflict 2, splice variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WXK3-F1	91.60	0.85

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: 161 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, MODULE_169, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, FOSTER_TOLERANT_MACROPHAGE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, chr10p15, PARENT_MTOR_SIGNALING_UP, GRYDER_PAX3FOXO1_TOP_ENHANCERS, RIGGINS_TAMOXIFEN_RESISTANCE_UP, MODULE_456, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

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

1411 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB13	KLHL20	Q9Y2M5	631
ASB13	ASB7	Q9H672	611
ASB13	ARIH2	O95376	603
ASB13	UBE4A	Q14139	502
ASB13	NUDT3	O95989	498
ASB13	MGRN1	O60291	489
ASB13	H0Y8G9	H0Y8G9	447
ASB13	HERC3	Q15034	447
ASB13	NEDD4L	Q96PU5	441
ASB13	KCTD6	Q8NC69	437
ASB13	RNF220	Q5VTB9	433
ASB13	RSPO4	Q2I0M5	425
ASB13	FBXO32	Q969P5	411
ASB13	MYLIP	Q8WY64	406
ASB13	SH3RF1	Q7Z6J0	404

IntAct

63 interactions, top by confidence:

A	B	Type	Score
CUL5	SOCS2	psi-mi:“MI:0914”(association)	0.880
ASB13	VAC14	psi-mi:“MI:0915”(physical association)	0.670
VAC14	ASB13	psi-mi:“MI:0915”(physical association)	0.670
ASB13	HIF1AN	psi-mi:“MI:0914”(association)	0.660
HIF1AN	ASB13	psi-mi:“MI:0915”(physical association)	0.660
CUL5	SOCS6	psi-mi:“MI:0914”(association)	0.640
CUL5	SOCS7	psi-mi:“MI:0914”(association)	0.640
ASB13	ZMIZ2	psi-mi:“MI:0915”(physical association)	0.560
DMWD	ASB13	psi-mi:“MI:0915”(physical association)	0.560
PRKN	ASB13	psi-mi:“MI:0915”(physical association)	0.560
VHL	ASB13	psi-mi:“MI:0915”(physical association)	0.560
KLF11	ASB13	psi-mi:“MI:0915”(physical association)	0.560
RNF11	ASB13	psi-mi:“MI:0915”(physical association)	0.560
PANK2	ASB13	psi-mi:“MI:0915”(physical association)	0.560
SPRED1	ASB13	psi-mi:“MI:0915”(physical association)	0.560
SNCA	ASB13	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	ASB13	psi-mi:“MI:0915”(physical association)	0.560
TARDBP	ASB13	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (47): ASB13 (Two-hybrid), ZMIZ2 (Two-hybrid), ASB13 (Affinity Capture-RNA), ASB13 (Affinity Capture-RNA), ASB13 (Two-hybrid), ASB13 (Two-hybrid), ASB13 (Affinity Capture-MS), ASB13 (Affinity Capture-RNA), ASB13 (Affinity Capture-MS), ASB13 (PCA), ASB13 (Affinity Capture-MS), ASB13 (Two-hybrid), ASB13 (Two-hybrid), ASB13 (Two-hybrid), ASB13 (Two-hybrid)

ESM2 similar proteins: A0MQH0, A4II29, A4IIX9, E9PTA2, O94826, P24786, Q0VC93, Q13507, Q16288, Q17QS6, Q25BN1, Q3ULA2, Q502M6, Q59H18, Q5GIG6, Q5IFJ9, Q5IS37, Q5IS82, Q5U5A6, Q5ZLX4, Q6DFV5, Q6GPR5, Q6GQW0, Q6TUI4, Q75Q39, Q7T3X9, Q7T3Y0, Q7TQP6, Q7Z6K4, Q7Z713, Q862Z2, Q8BPU7, Q8K4Q0, Q8N122, Q8VBX0, Q8WWX0, Q8WXK3, Q91987, Q91YD4, Q91ZA8

Diamond homologs: Q02989, Q17QS6, Q3SZE4, Q5RFS1, Q70X92, Q810B6, Q862Z2, Q8VBX0, Q8WWX0, Q8WXH4, Q8WXK3, Q91ZT8, Q91ZU0, Q96DX5, Q9BSK4, Q9CQ31, Q9D1A4, Q9J4Z6, Q9WV74, Q9XZC0, Q9Y576, A6NGH8, O75762, Q21209, Q21920, Q499M5, Q4JHE0, Q4UKY3, Q5ZLC8, Q60J38, Q6RI86, Q6ZVZ8, Q8BLA8, Q8UVC3, Q96KQ7, Q96NS5, A6QR20, Q18297, Q5RCK5, Q8BTI7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 26 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Neddylation	5	12.5×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
proteasome-mediated ubiquitin-dependent protein catabolic process	6	12.5×	6e-04
protein ubiquitination	7	11.6×	2e-04
intracellular signal transduction	5	7.6×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

979 predictions. Top by Δscore:

Variant	Effect	Δscore
10:5641764:TCTCA:T	donor_loss	1.0000
10:5641765:CTCAC:C	donor_loss	1.0000
10:5641766:TCA:T	donor_loss	1.0000
10:5641767:CACTT:C	donor_loss	1.0000
10:5641768:A:AC	donor_gain	1.0000
10:5641769:C:CT	donor_gain	1.0000
10:5641769:CTTT:C	donor_gain	1.0000
10:5641772:T:A	donor_gain	1.0000
10:5641779:A:AC	donor_gain	1.0000
10:5641780:C:CC	donor_gain	1.0000
10:5649103:CCCT:C	acceptor_gain	1.0000
10:5651208:CTCA:C	donor_loss	1.0000
10:5651209:TCAC:T	donor_loss	1.0000
10:5651210:CACCG:C	donor_loss	1.0000
10:5651211:A:AC	donor_gain	1.0000
10:5651211:A:T	donor_loss	1.0000
10:5651212:C:CC	donor_gain	1.0000
10:5651212:CCG:C	donor_gain	1.0000
10:5651212:CCGCT:C	donor_gain	1.0000
10:5651361:C:T	acceptor_gain	1.0000
10:5651366:C:CT	acceptor_gain	1.0000
10:5651368:C:CT	acceptor_gain	1.0000
10:5651369:G:T	acceptor_gain	1.0000
10:5652859:TCA:T	donor_loss	1.0000
10:5652860:CACCT:C	donor_loss	1.0000
10:5652861:A:AC	donor_gain	1.0000
10:5652862:C:CC	donor_gain	1.0000
10:5652862:C:G	donor_loss	1.0000
10:5653046:GAAAC:G	acceptor_gain	1.0000
10:5653047:AAAC:A	acceptor_gain	1.0000

AlphaMissense

1806 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:5649029:G:T	P153H	0.999
10:5651220:G:C	C125W	0.999
10:5651221:C:T	C125Y	0.999
10:5651222:A:G	C125R	0.999
10:5651225:C:G	A124P	0.999
10:5651284:A:G	L104S	0.999
10:5651316:G:C	C93W	0.999
10:5651321:C:G	A92P	0.999
10:5651329:A:T	L89H	0.999
10:5651332:G:C	P88R	0.999
10:5651332:G:T	P88Q	0.999
10:5641844:T:A	D212V	0.998
10:5641877:A:G	L201P	0.998
10:5641925:G:T	A185D	0.998
10:5648978:A:G	L170P	0.998
10:5648981:A:G	L169P	0.998
10:5649013:A:C	C158W	0.998
10:5649029:G:C	P153R	0.998
10:5649080:A:G	L136P	0.998
10:5651236:G:T	P120H	0.998
10:5651317:C:T	C93Y	0.998
10:5651318:A:G	C93R	0.998
10:5651320:G:T	A92D	0.998
10:5651329:A:G	L89P	0.998
10:5651349:G:C	N82K	0.998
10:5651349:G:T	N82K	0.998
10:5652882:A:G	L71P	0.998
10:5652914:A:C	S60R	0.998
10:5652914:A:T	S60R	0.998
10:5652916:T:G	S60R	0.998

dbSNP variants (sampled 300 via entrez): RS1000020756 (10:5659322 C>T), RS1000062967 (10:5643635 A>C), RS1000107257 (10:5638791 C>T), RS1000125349 (10:5665399 T>C), RS1000192664 (10:5666544 G>A,C,T), RS1000231656 (10:5643510 C>T), RS1000262801 (10:5668506 T>C), RS1000267994 (10:5665174 T>C), RS1000365415 (10:5662440 A>C), RS1000415147 (10:5638609 G>A,T), RS1000480017 (10:5662622 A>G), RS1000495007 (10:5657701 G>A,T), RS1000552145 (10:5651585 A>C,G), RS1000975133 (10:5659532 T>C), RS1001056100 (10:5657902 C>A,T)

Disease associations

OMIM: gene MIM:615055 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002337_65	Amyotrophic lateral sclerosis (sporadic)	3.000000e-06
GCST007269_109	Pulse pressure	2.000000e-08
GCST009856_28	Leukocyte telomere length	1.000000e-06
GCST012046_5	Fasting insulin	3.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Estradiol	increases expression, affects binding	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression	2
testosterone enanthate	affects expression	1
bisphenol A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ferrous chloride	decreases expression	1
aflatoxin B2	increases methylation	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Bilirubin	decreases expression	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects binding, decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tamoxifen	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1

Clinical trials (associated diseases)

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