ASB16

Summary

ASB16 (ankyrin repeat and SOCS box containing 16, HGNC:19768) is a protein-coding gene on chromosome 17q21.31, encoding Ankyrin repeat and SOCS box protein 16 (Q96NS5). 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.

Source: NCBI Gene 92591 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 124 total
• MANE Select transcript: NM_080863

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19768
Approved symbol	ASB16
Name	ankyrin repeat and SOCS box containing 16
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ30165
Ensembl gene	ENSG00000161664
Ensembl biotype	protein_coding
OMIM	615056
Entrez	92591

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000293414, ENST00000589618, ENST00000591700

RefSeq mRNA: 1 — MANE Select: NM_080863 NM_080863

CCDS: CCDS11478

Canonical transcript exons

ENST00000293414 — 5 exons

Exon	Start	End
ENSE00001059554	44172046	44172313
ENSE00001059555	44176738	44177230
ENSE00001118643	44170704	44171090
ENSE00001118644	44178205	44179084
ENSE00003692372	44177609	44177722

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 90.34.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2847 / max 46.1954, expressed in 68 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161116	0.2502	59
161115	0.0345	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	90.34	gold quality
gastrocnemius	UBERON:0001388	90.26	gold quality
muscle of leg	UBERON:0001383	89.50	gold quality
buccal mucosa cell	CL:0002336	79.04	silver quality
apex of heart	UBERON:0002098	77.84	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.34	silver quality
skeletal muscle tissue	UBERON:0001134	76.30	gold quality
heart left ventricle	UBERON:0002084	74.75	gold quality
muscle tissue	UBERON:0002385	74.57	gold quality
cardiac ventricle	UBERON:0002082	74.23	gold quality
cerebellar hemisphere	UBERON:0002245	72.08	gold quality
cerebellar cortex	UBERON:0002129	72.04	gold quality
right hemisphere of cerebellum	UBERON:0014890	71.74	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	71.33	gold quality
heart	UBERON:0000948	71.00	gold quality
right atrium auricular region	UBERON:0006631	70.96	gold quality
cardiac atrium	UBERON:0002081	70.67	gold quality
cerebellum	UBERON:0002037	70.55	gold quality
mucosa of stomach	UBERON:0001199	69.57	gold quality
stromal cell of endometrium	CL:0002255	69.23	gold quality
popliteal artery	UBERON:0002250	68.88	gold quality
tibial artery	UBERON:0007610	68.86	gold quality
lower esophagus muscularis layer	UBERON:0035833	68.35	gold quality
lower esophagus	UBERON:0013473	68.33	gold quality
aorta	UBERON:0000947	67.42	gold quality
islet of Langerhans	UBERON:0000006	66.91	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	66.69	gold quality
body of pancreas	UBERON:0001150	66.55	gold quality
mammary duct	UBERON:0001765	66.37	gold quality
descending thoracic aorta	UBERON:0002345	66.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-83139	no	2.95
E-ANND-3	no	1.25

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

40 targeting ASB16, 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-6851-5P	100.00	65.63	1294
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-4260	98.78	65.37	848
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-3928-5P	98.50	67.48	980
HSA-MIR-6806-3P	98.50	67.31	980

Literature-anchored findings (GeneRIF, showing 1)

• ASB16-AS1 up-regulated and phosphorylated TRIM37 to activate NF-kappaB pathway and promote proliferation, stemness, and cisplatin resistance of gastric cancer. (PMID:32572790)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	asb16	ENSDARG00000056468
mus_musculus	Asb16	ENSMUSG00000034768
rattus_norvegicus	Asb16	ENSRNOG00000036794

Paralogs (7): ASB4 (ENSG00000005981), ASB3 (ENSG00000115239), ASB15 (ENSG00000146809), ASB10 (ENSG00000146926), ASB18 (ENSG00000182177), MPHOSPH8 (ENSG00000196199), ASB14 (ENSG00000239388)

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 16 — Q96NS5 (reviewed: Q96NS5)

All UniProt accessions (3): Q96NS5, K7ELE0, K7EM41

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 (1): NP_543139* (*=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
IPR051573	Ankyrin-SOCS_box_domain	Family

Pfam: PF00023, PF07525, PF12796

UniProt features (15 total): repeat 7, sequence conflict 4, sequence variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96NS5-F1	88.68	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: 50 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, AP4_Q6, MEF2_02, CAGCTG_AP4_Q5, MODULE_256, HEN1_01, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MODULE_333, DANG_BOUND_BY_MYC, CTAWWWATA_RSRFC4_Q2, MEF2_03, MODULE_166, 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

1028 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB16	ZDHHC2	Q9UIJ5	455
ASB16	LRRC30	A6NM36	425
ASB16	ZBED8L	Q8TCP9	400
ASB16	GLB1L3	Q8NCI6	387
ASB16	LRRC14B	A6NHZ5	379
ASB16	LRRC20	Q8TCA0	375
ASB16	NUTM2F	A1L443	372
ASB16	DIP2C-AS1	Q8N8Z3	369
ASB16	UBOX5	O94941	367
ASB16	TRIM37	O94972	359
ASB16	ASB12	Q8WXK4	358
ASB16	TMEM52	Q8NDY8	324
ASB16	TMEM233	B4DJY2	319
ASB16	LY6G6C	O95867	314
ASB16	LRRC38	Q5VT99	312

IntAct

9 interactions, top by confidence:

A	B	Type	Score
ASB16	SPDL1	psi-mi:“MI:0914”(association)	0.530
ASB16	ABL1	psi-mi:“MI:0915”(physical association)	0.400
ASB16	SRC	psi-mi:“MI:0915”(physical association)	0.400
FYN	ASB16	psi-mi:“MI:0915”(physical association)	0.400
GRB2	ASB16	psi-mi:“MI:0915”(physical association)	0.400
NCK1	ASB16	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (26): ASB16 (Synthetic Lethality), HIF1AN (Affinity Capture-MS), SPDL1 (Affinity Capture-MS), ASB16 (PCA), HIF1AN (Affinity Capture-MS), SPDL1 (Affinity Capture-MS), ASB16 (Affinity Capture-RNA), CUL5 (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), TCEB1 (Affinity Capture-MS), TCEB2 (Affinity Capture-MS), H3F3A (Affinity Capture-MS), VIM (Affinity Capture-MS), HIST1H4A (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS)

ESM2 similar proteins: A2AS55, B2RXR6, O15084, O75832, P0C927, Q08DV6, Q0P5B9, Q29RM5, Q2TB02, Q3SX45, Q495B1, Q499M5, Q4V890, Q502K3, Q505D1, Q53RE8, Q5F478, Q5RFS1, Q5U2S6, Q5ZLC8, Q6GPE5, Q6P6B7, Q6P9Z4, Q70X92, Q7T3P8, Q810B6, Q8BTI7, Q8C0T1, Q8C6Y6, Q8K0L0, Q8N8A2, Q8NB46, Q8NI38, Q8WXH4, Q91ZT8, Q96AX9, Q96DX5, Q96NS5, Q96Q27, Q9BSK4

Diamond homologs: A2AQH4, A6NGH8, P17369, P25799, P25963, Q2T9W8, Q4FE45, Q4JHE0, Q5H9F3, Q641X1, Q8BTI7, Q8NB46, Q96NS5, Q9CQ31, Q9CQM6, Q9H2K2, A2ARS0, C9JTQ0, L7XCU0, L7XDS4, O00221, O54910, O73630, O75762, O89019, P01125, P01126, P07207, P15307, P15330, P16236, P18954, P19838, P20749, P23631, P31695, P51509, P51510, P98149, P98150

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	107
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

811 predictions. Top by Δscore:

Variant	Effect	Δscore
17:44171053:GACT:G	donor_gain	1.0000
17:44171057:G:GG	donor_gain	1.0000
17:44171089:GG:G	donor_gain	1.0000
17:44171090:GG:G	donor_gain	1.0000
17:44172249:GC:G	donor_gain	1.0000
17:44172267:G:GT	donor_gain	1.0000
17:44172311:GCA:G	donor_gain	1.0000
17:44172314:G:GG	donor_gain	1.0000
17:44176735:CAG:C	acceptor_loss	1.0000
17:44176736:AG:A	acceptor_gain	1.0000
17:44176737:G:A	acceptor_loss	1.0000
17:44176737:GG:G	acceptor_gain	1.0000
17:44176737:GGT:G	acceptor_gain	1.0000
17:44177720:AAGGT:A	donor_loss	1.0000
17:44177721:AGGT:A	donor_loss	1.0000
17:44177723:G:C	donor_loss	1.0000
17:44177724:T:A	donor_loss	1.0000
17:44178197:T:TA	acceptor_gain	1.0000
17:44171079:C:A	donor_gain	0.9900
17:44171091:G:T	donor_gain	0.9900
17:44172144:G:GT	donor_gain	0.9900
17:44172268:A:T	donor_gain	0.9900
17:44176729:T:A	acceptor_gain	0.9900
17:44176736:A:AG	acceptor_gain	0.9900
17:44176736:AGGT:A	acceptor_gain	0.9900
17:44176737:G:GA	acceptor_gain	0.9900
17:44176737:GGTG:G	acceptor_gain	0.9900
17:44176737:GGTGC:G	acceptor_gain	0.9900
17:44177170:G:GT	donor_gain	0.9900
17:44177177:G:GT	donor_gain	0.9900

AlphaMissense

2866 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:44176853:T:G	Y229D	0.949
17:44172293:C:G	C183W	0.946
17:44178217:T:C	F397L	0.942
17:44178219:C:A	F397L	0.942
17:44178219:C:G	F397L	0.942
17:44177127:C:A	P320H	0.938
17:44178255:G:C	R409S	0.930
17:44178255:G:T	R409S	0.930
17:44177044:T:G	C292W	0.926
17:44176912:C:A	N248K	0.924
17:44176912:C:G	N248K	0.924
17:44177043:G:A	C292Y	0.916
17:44178254:G:C	R409T	0.914
17:44177042:T:C	C292R	0.913
17:44177690:T:A	W382R	0.913
17:44177690:T:C	W382R	0.913
17:44172283:T:C	L180S	0.910
17:44177673:T:A	V376D	0.910
17:44176743:C:A	A192D	0.909
17:44176806:C:A	P213H	0.909
17:44171018:T:C	F77L	0.908
17:44171020:C:A	F77L	0.908
17:44171020:C:G	F77L	0.908
17:44172280:C:A	P179H	0.907
17:44172292:G:A	C183Y	0.904
17:44178254:G:T	R409M	0.903
17:44172133:T:C	L130P	0.901
17:44172291:T:C	C183R	0.900
17:44171075:T:A	W96R	0.898
17:44171075:T:C	W96R	0.898

dbSNP variants (sampled 300 via entrez): RS1000291940 (17:44168831 G>A,C,T), RS1000305703 (17:44175287 A>G), RS1000534764 (17:44174624 C>T), RS1000903548 (17:44173957 G>A,T), RS1001032550 (17:44178904 G>A), RS1001591992 (17:44169978 G>A), RS1001820658 (17:44176338 C>G), RS1001966005 (17:44175602 G>A), RS1001977903 (17:44170313 G>C), RS1002065434 (17:44169937 A>G), RS1002572892 (17:44177837 G>A), RS1002626997 (17:44178059 G>A), RS1002650507 (17:44173242 G>C), RS1003266104 (17:44171486 C>T), RS1003741817 (17:44171151 G>A,T)

Disease associations

OMIM: gene MIM:615056 | disease phenotypes: MIM:607485, MIM:614706

GenCC curated gene-disease

Mondo (2): GRN-related frontotemporal lobar degeneration with Tdp43 inclusions (MONDO:0011842), neuronal ceroid lipofuscinosis 11 (MONDO:0013866)

Orphanet (4): Progressive non-fluent aphasia (Orphanet:100070), Frontotemporal dementia (Orphanet:282), CLN11 disease (Orphanet:314629), OBSOLETE: Adult neuronal ceroid lipofuscinosis (Orphanet:79262)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008103_24	Bipolar disorder	2.000000e-08
GCST90002383_69	Hematocrit	4.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004348	hematocrit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation	1
sodium arsenite	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	increases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	increases expression, affects cotreatment	1
Coal	increases abundance, increases expression	1
Smoke	increases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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