INSYN2B

Summary

INSYN2B (inhibitory synaptic factor family member 2B, HGNC:37271) is a protein-coding gene on chromosome 5q35.1, encoding Protein INSYN2B (A6NMK8).

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001129891

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37271
Approved symbol	INSYN2B
Name	inhibitory synaptic factor family member 2B
Location	5q35.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000204767
Ensembl biotype	protein_coding
Entrez	100131897

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000377365, ENST00000523970

RefSeq mRNA: 2 — MANE Select: NM_001129891 NM_001129891, NM_001346304

CCDS: CCDS47336

Canonical transcript exons

ENST00000377365 — 4 exons

Exon	Start	End
ENSE00001473703	169861303	169864459
ENSE00001473704	169881368	169881442
ENSE00001473705	169882553	169884816
ENSE00001473706	169980277	169980495

Expression profiles

Bgee: expression breadth ubiquitous, 149 present calls, max score 81.39.

FANTOM5 (CAGE): breadth broad, TPM avg 4.1076 / max 108.5483, expressed in 820 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64752	2.7787	747
64753	1.3289	555

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	81.39	gold quality
bone marrow cell	CL:0002092	79.47	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.48	silver quality
endothelial cell	CL:0000115	76.98	silver quality
mammary duct	UBERON:0001765	70.87	silver quality
epithelium of mammary gland	UBERON:0003244	70.75	silver quality
prefrontal cortex	UBERON:0000451	70.50	gold quality
primary visual cortex	UBERON:0002436	69.05	gold quality
Brodmann (1909) area 46	UBERON:0006483	68.83	gold quality
germinal epithelium of ovary	UBERON:0001304	68.27	gold quality
ventricular zone	UBERON:0003053	68.02	gold quality
Brodmann (1909) area 9	UBERON:0013540	66.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	66.50	gold quality
frontal cortex	UBERON:0001870	66.21	gold quality
thoracic mammary gland	UBERON:0005200	66.04	gold quality
mammary gland	UBERON:0001911	65.87	gold quality
neocortex	UBERON:0001950	65.36	gold quality
spinal cord	UBERON:0002240	65.31	gold quality
cortical plate	UBERON:0005343	65.26	gold quality
occipital lobe	UBERON:0002021	64.83	gold quality
Ammon’s horn	UBERON:0001954	64.66	gold quality
corpus callosum	UBERON:0002336	64.64	gold quality
colonic epithelium	UBERON:0000397	64.46	gold quality
right frontal lobe	UBERON:0002810	64.30	gold quality
hypothalamus	UBERON:0001898	64.22	gold quality
putamen	UBERON:0001874	64.17	gold quality
cerebral cortex	UBERON:0000956	64.14	gold quality
substantia nigra	UBERON:0002038	64.11	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	64.10	gold quality
amygdala	UBERON:0001876	63.38	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting INSYN2B, 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-574-5P	100.00	66.01	989
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Insyn2b	ENSMUSG00000069911
rattus_norvegicus	Insyn2b	ENSRNOG00000032329

Paralogs (1): INSYN2A (ENSG00000188916)

Protein

Protein identifiers

Protein INSYN2B — A6NMK8 (reviewed: A6NMK8)

Alternative names: Inhibitory synaptic factor family member 2B

All UniProt accessions (1): A6NMK8

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the INSYN2 family.

RefSeq proteins (2): NP_001123363, NP_001333233 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029337	INSYN2	Family

Pfam: PF15265

UniProt features (13 total): compositionally biased region 7, region of interest 3, chain 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NMK8-F1	53.22	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 50 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, MIKKELSEN_MCV6_ICP_WITH_H3K4ME3_AND_H3K27ME3, HOELZEL_NF1_TARGETS_UP, PANGAS_TUMOR_SUPPRESSION_BY_SMAD1_AND_SMAD5_DN, JOHNSTONE_PARVB_TARGETS_3_DN, RAO_BOUND_BY_SALL4, GSE14415_INDUCED_TREG_VS_TCONV_DN, F10_TARGET_GENES, ZNF664_TARGET_GENES, MIR218_5P, MIR519C_3P, MIR519A_3P_MIR519B_3P, MIR4747_5P, MIR636, MIR629_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

520 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
INSYN2B	LYPD6	Q86Y78	602
INSYN2B	TMEM174	Q8WUU8	591
INSYN2B	C6orf132	Q5T0Z8	585
INSYN2B	LRRC34	Q8IZ02	573
INSYN2B	TTC9	Q92623	491
INSYN2B	LRRIQ4	A6NIV6	447
INSYN2B	TMEM72	A0PK05	435
INSYN2B	ZNF28	P17035	419
INSYN2B	C12orf75	Q8TAD7	407
INSYN2B	FAM124A	Q86V42	400
INSYN2B	EGFL6	Q8IUX8	388
INSYN2B	SCEL	O95171	381
INSYN2B	DHRS12	A0PJE2	375
INSYN2B	ACTRT3	Q9BYD9	366
INSYN2B	LRRC31	Q6UY01	361
INSYN2B	SMC1B	Q8NDV3	361

IntAct

0 interactions, top by confidence:

BioGRID (1): FAM196B (Affinity Capture-MS)

ESM2 similar proteins: A0A0A6YY25, A0A5K7RLP0, A6NMK8, A8MVX0, B2RQL2, B2RXH4, C9JSJ3, D2J0Y4, O54824, P97303, Q01954, Q05AH6, Q0VET5, Q14005, Q1W617, Q2YDE2, Q3MHT3, Q3U0P1, Q3ULM6, Q3UXL4, Q4R7L6, Q5RC05, Q5T0L3, Q68CR7, Q6GQV1, Q6NS69, Q6NZK5, Q6P1D7, Q6PG16, Q6ZVT6, Q7Z4V0, Q80W88, Q80XI1, Q811R2, Q86T90, Q86YN6, Q8BHP2, Q8BLK9, Q8BP99, Q8BW86

Diamond homologs: A6NMK8, Q3USH1, Q6GQV1, Q6ZSG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1375 predictions. Top by Δscore:

Variant	Effect	Δscore
5:169864455:CTACA:C	acceptor_gain	1.0000
5:169864456:TACA:T	acceptor_gain	0.9900
5:169864458:CA:C	acceptor_gain	0.9900
5:169864460:C:CC	acceptor_gain	0.9900
5:169864460:C:T	acceptor_loss	0.9900
5:169864461:T:C	acceptor_loss	0.9900
5:169864486:A:T	donor_gain	0.9900
5:169934705:GAT:G	donor_gain	0.9900
5:169934706:ATA:A	donor_gain	0.9900
5:169864457:ACA:A	acceptor_gain	0.9800
5:169864458:CAC:C	acceptor_gain	0.9800
5:169864468:C:CT	acceptor_gain	0.9800
5:169966089:G:C	acceptor_gain	0.9800
5:169864470:C:CT	acceptor_gain	0.9700
5:169866006:G:GT	donor_gain	0.9700
5:169884815:ACC:A	acceptor_loss	0.9700
5:169884817:C:A	acceptor_loss	0.9700
5:169884818:T:C	acceptor_loss	0.9700
5:169881443:C:A	acceptor_loss	0.9600
5:169881444:T:TC	acceptor_loss	0.9600
5:169881445:GCAAG:G	acceptor_loss	0.9600
5:169881446:CAAGA:C	acceptor_loss	0.9600
5:169884671:C:A	donor_gain	0.9500
5:169864471:A:T	acceptor_gain	0.9400
5:169866013:C:T	donor_gain	0.9400
5:169881440:CGC:C	acceptor_gain	0.9400
5:169881447:AAGA:A	acceptor_loss	0.9400
5:169924780:T:G	acceptor_gain	0.9400
5:169880111:T:TA	donor_gain	0.9300
5:169881443:C:CC	acceptor_gain	0.9300

AlphaMissense

3508 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:169864444:A:C	F479L	1.000
5:169864444:A:T	F479L	1.000
5:169864446:A:G	F479L	1.000
5:169881374:A:T	I472K	1.000
5:169881379:G:C	C470W	1.000
5:169881380:C:T	C470Y	1.000
5:169881381:A:G	C470R	1.000
5:169881394:G:C	C465W	1.000
5:169881395:C:G	C465S	1.000
5:169881395:C:T	C465Y	1.000
5:169881396:A:G	C465R	1.000
5:169881396:A:T	C465S	1.000
5:169881403:G:C	C462W	1.000
5:169881405:A:G	C462R	1.000
5:169882601:A:G	L433P	1.000
5:169864445:A:C	F479C	0.999
5:169864445:A:G	F479S	0.999
5:169881374:A:C	I472R	0.999
5:169881380:C:A	C470F	0.999
5:169881380:C:G	C470S	0.999
5:169881381:A:T	C470S	0.999
5:169881395:C:A	C465F	0.999
5:169881404:C:A	C462F	0.999
5:169881404:C:G	C462S	0.999
5:169881404:C:T	C462Y	0.999
5:169881405:A:T	C462S	0.999
5:169881422:C:T	G456D	0.999
5:169882576:C:A	E441D	0.999
5:169882576:C:G	E441D	0.999
5:169882577:T:A	E441V	0.999

dbSNP variants (sampled 300 via entrez): RS1000015028 (5:169862884 C>A,T), RS1000022789 (5:169941230 T>C), RS1000025409 (5:169945429 C>A), RS1000041994 (5:169962234 G>A), RS1000113997 (5:169968676 C>G), RS1000119392 (5:169911099 G>T), RS1000156277 (5:169888194 C>T), RS1000170798 (5:169865043 C>T), RS1000189600 (5:169906523 G>A), RS1000198455 (5:169865252 T>A,C), RS1000306459 (5:169965100 G>A), RS1000307859 (5:169945161 G>A,C), RS1000331272 (5:169917270 C>A), RS1000379674 (5:169965362 G>A,T), RS1000427282 (5:169910775 C>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

3 associations (top):

Study	Trait	p-value
GCST002481_3	Acne (severe)	3.000000e-06
GCST005844_9	Placental abruption	8.000000e-06
GCST011767_9	Bipolar disorder	2.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol A	increases expression	1
lead acetate	increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
clothianidin	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Temozolomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance, affects cotreatment	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Endosulfan	decreases expression	1
Formaldehyde	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methapyrilene	increases methylation	1
Valproic Acid	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

Clinical trials (associated diseases)

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