SIRPB2

Summary

SIRPB2 (signal regulatory protein beta 2, HGNC:16247) is a protein-coding gene on chromosome 20p13, encoding Signal-regulatory protein beta-2 (Q5JXA9).

Predicted to be located in membrane. Predicted to be active in plasma membrane.

Source: NCBI Gene 284759 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 29 total — 1 likely-pathogenic
• MANE Select transcript: NM_001122962

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16247
Approved symbol	SIRPB2
Name	signal regulatory protein beta 2
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	dJ776F14.2
Ensembl gene	ENSG00000196209
Ensembl biotype	protein_coding
OMIM	621323
Entrez	284759

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 3 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000359801, ENST00000381630, ENST00000444444, ENST00000481731, ENST00000486775, ENST00000608073, ENST00000608747, ENST00000609796, ENST00000965661

RefSeq mRNA: 2 — MANE Select: NM_001122962 NM_001122962, NM_001134836

CCDS: CCDS42849, CCDS46570

Canonical transcript exons

ENST00000359801 — 5 exons

Exon	Start	End
ENSE00000858604	1479700	1480065
ENSE00001223755	1477338	1477403
ENSE00001407026	1474578	1476336
ENSE00001949122	1491275	1491420
ENSE00003709978	1478266	1478607

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 96.60.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3681 / max 25.0367, expressed in 137 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186026	2.6774	362
186029	0.4102	179
186025	0.1916	86
186023	0.1766	84

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	96.60	gold quality
leukocyte	CL:0000738	96.43	gold quality
granulocyte	CL:0000094	94.79	gold quality
blood	UBERON:0000178	93.01	gold quality
vermiform appendix	UBERON:0001154	88.90	gold quality
buccal mucosa cell	CL:0002336	87.39	silver quality
spleen	UBERON:0002106	86.74	gold quality
right lung	UBERON:0002167	86.23	gold quality
bone marrow cell	CL:0002092	80.33	gold quality
bone marrow	UBERON:0002371	79.27	gold quality
upper lobe of left lung	UBERON:0008952	79.06	gold quality
caecum	UBERON:0001153	78.54	gold quality
upper lobe of lung	UBERON:0008948	78.42	gold quality
trabecular bone tissue	UBERON:0002483	78.06	gold quality
right adrenal gland cortex	UBERON:0035827	77.75	gold quality
lymph node	UBERON:0000029	77.01	gold quality
omental fat pad	UBERON:0010414	76.31	gold quality
peritoneum	UBERON:0002358	76.21	gold quality
mucosa of stomach	UBERON:0001199	76.12	gold quality
gall bladder	UBERON:0002110	76.03	gold quality
adipose tissue of abdominal region	UBERON:0007808	75.52	gold quality
left adrenal gland cortex	UBERON:0035825	75.44	gold quality
right adrenal gland	UBERON:0001233	75.41	gold quality
right coronary artery	UBERON:0001625	75.30	gold quality
left adrenal gland	UBERON:0001234	74.94	gold quality
descending thoracic aorta	UBERON:0002345	74.92	gold quality
smooth muscle tissue	UBERON:0001135	74.83	gold quality
left coronary artery	UBERON:0001626	74.60	gold quality
subcutaneous adipose tissue	UBERON:0002190	73.96	gold quality
adrenal cortex	UBERON:0001235	73.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.17

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Relationship between ATM kinase and extracellular signal-regulated kinase 1/2 (ERK1/2), a key mitogenic stimulator. (PMID:17178844)
• Results suggest that SIRPB1 is a potential oncogene capable of activating Akt signaling to stimulate prostate cancer proliferation and could be a biomarker for patients at risk of developing aggressive prostate cancer. (PMID:31905248)

Cross-species orthologs

0 orthologs

Paralogs (4): SIRPG (ENSG00000089012), SIRPB1 (ENSG00000101307), SIRPD (ENSG00000125900), SIRPA (ENSG00000198053)

Protein

Protein identifiers

Signal-regulatory protein beta-2 — Q5JXA9 (reviewed: Q5JXA9)

Alternative names: Protein tyrosine phosphatase non-receptor type substrate 1-like 3, Protein tyrosine phosphatase non-receptor type substrate protein

All UniProt accessions (3): F2Z2Y9, Q5JXA9, V9GYW8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5JXA9-1	1	yes
Q5JXA9-2	2
Q5JXA9-3	3

RefSeq proteins (2): NP_001116434, NP_001128308 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR051755	Ig-like_CS_Receptor	Family

Pfam: PF07686

UniProt features (19 total): glycosylation site 3, sequence variant 3, disulfide bond 2, splice variant 2, topological domain 2, domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JXA9-F1	77.03	0.45

Functional residue map

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

Disulfide bonds (2): 60–127, 180–242

Glycosylation sites (3): 231, 116, 179

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 46 (showing top): WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, STK33_NOMO_DN, TFEB_TARGET_GENES, ZNF22_TARGET_GENES, ZNF768_TARGET_GENES, MIR3175, GSE11057_PBMC_VS_MEM_CD4_TCELL_UP, MIR1972, BLANCO_MELO_BETA_INTERFERON_TREATED_BRONCHIAL_EPITHELIAL_CELLS_UP, BLANCO_MELO_BRONCHIAL_EPITHELIAL_CELLS_INFLUENZA_A_DEL_NS1_INFECTION_UP, chr20p13, AIZARANI_LIVER_C23_KUPFFER_CELLS_3, DESCARTES_FETAL_ADRENAL_MYELOID_CELLS, DESCARTES_FETAL_HEART_MYELOID_CELLS, DESCARTES_FETAL_INTESTINE_MYELOID_CELLS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

910 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SIRPB2	XKR9	Q5GH70	376
SIRPB2	FSD2	A1L4K1	371
SIRPB2	OXNAD1	Q96HP4	348
SIRPB2	SLC16A5	O15375	343
SIRPB2	LRRC39	Q96DD0	313
SIRPB2	SUSD3	Q96L08	311
SIRPB2	ASB15	Q8WXK1	305
SIRPB2	EEIG1	Q5T9C2	303
SIRPB2	PM20D1	Q6GTS8	293
SIRPB2	LRRC2	Q9BYS8	289
SIRPB2	CD47	Q08722	283
SIRPB2	FMNL3	Q8IVF7	274
SIRPB2	TSPAN10	Q9H1Z9	273
SIRPB2	PTPRE	P23469	270
SIRPB2	PPIL3	Q9H2H8	270

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0G2KBC9, A1YIY0, A6QQC6, A8MVW5, B6A8R8, D3ZQX2, O95256, P01882, P0DTI4, P12371, P13598, P20489, P23505, P26151, P35330, P51866, P83555, P83556, Q01965, Q08481, Q13291, Q18PI6, Q19LI2, Q3B8P2, Q3SWT0, Q4VAH7, Q5JXA9, Q5NKV1, Q5NKV2, Q5UKY4, Q63203, Q68SN8, Q6GMZ9, Q6PCB8, Q6UX27, Q6UY09, Q7Z6M3, Q8BHK6, Q8K5B1, Q8N7X8

Diamond homologs: O00241, O46631, P01691, P01844, P01845, P01847, P01915, P04230, P04231, P18211, P18468, P18469, P18470, P20040, P78324, P97710, P97797, Q5JXA9, Q5TFQ8, Q9H106, Q9P1W8, Q9PWR4, P55899, Q29980, P01835, P35737, P01634, P01645, P01646, P01861, P20760, P01693, P01635, P01683, P14432

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	1
Uncertain significance	21
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
564643	GRCh37/hg19 20p13(chr20:61568-2010334)x1	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2220 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:1479932:C:A	W73C	0.985
20:1479932:C:G	W73C	0.985
20:1478477:G:C	F194L	0.978
20:1478477:G:T	F194L	0.978
20:1478479:A:G	F194L	0.978
20:1478480:C:A	W193C	0.973
20:1478480:C:G	W193C	0.973
20:1478324:A:C	F245L	0.970
20:1478324:A:T	F245L	0.970
20:1478326:A:G	F245L	0.970
20:1478482:A:G	W193R	0.966
20:1478482:A:T	W193R	0.966
20:1479934:A:G	W73R	0.966
20:1479934:A:T	W73R	0.966
20:1479778:A:C	Y125D	0.961
20:1478384:G:C	F225L	0.957
20:1478384:G:T	F225L	0.957
20:1478386:A:G	F225L	0.957
20:1478334:C:G	C242S	0.953
20:1478335:A:T	C242S	0.953
20:1478519:G:C	C180W	0.953
20:1478478:A:C	F194C	0.949
20:1479771:C:G	C127S	0.948
20:1479772:A:T	C127S	0.948
20:1478381:G:C	S226R	0.943
20:1478381:G:T	S226R	0.943
20:1478383:T:G	S226R	0.943
20:1478327:C:A	K244N	0.941
20:1478327:C:G	K244N	0.941
20:1478333:A:C	C242W	0.940

dbSNP variants (sampled 300 via entrez): RS1000064170 (20:1492654 C>G), RS1000240921 (20:1471272 G>A), RS1000252259 (20:1493217 T>A), RS1000408719 (20:1486725 C>T), RS1000429753 (20:1487556 T>A), RS1000522628 (20:1482472 A>T), RS1000547834 (20:1492963 C>T), RS1000550143 (20:1482732 C>T), RS1000871199 (20:1482726 C>A), RS1000923618 (20:1482862 C>T), RS1001104288 (20:1476662 A>T), RS1001169844 (20:1488776 T>G), RS1001212955 (20:1472367 A>G), RS1001256834 (20:1484504 A>C), RS1001501168 (20:1472425 G>A)

Disease associations

OMIM: gene MIM:621323 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Air Pollutants, Occupational	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Methapyrilene	increases methylation	1
Nickel	decreases expression	1
Oxygen	increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Sodium Selenite	increases expression	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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