SPEGNB

Summary

SPEGNB (SPEG neighbor, HGNC:51251) is a protein-coding gene on chromosome 2q35, encoding SPEG neighbor protein (A0A087WV53).

Predicted to enable protein kinase activity.

Source: NCBI Gene 100996693 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001286811

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51251
Approved symbol	SPEGNB
Name	SPEG neighbor
Location	2q35
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000286095
Ensembl biotype	protein_coding
Entrez	100996693

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 retained_intron, 1 protein_coding

ENST00000475104, ENST00000651166

RefSeq mRNA: 1 — MANE Select: NM_001286811 NM_001286811

Canonical transcript exons

ENST00000651166 — 5 exons

Exon	Start	End
ENSE00003740871	219498051	219498287
ENSE00003842874	219496131	219496217
ENSE00003846420	219496355	219496482
ENSE00003846429	219497720	219497861
ENSE00003850594	219496809	219497116

Expression profiles

Bgee: expression breadth ubiquitous, 120 present calls, max score 81.34.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0587 / max 29.6948, expressed in 9 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25514	0.0587	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	81.34	gold quality
gastrocnemius	UBERON:0001388	77.94	gold quality
muscle of leg	UBERON:0001383	75.61	gold quality
popliteal artery	UBERON:0002250	74.45	gold quality
tibial artery	UBERON:0007610	74.45	gold quality
skeletal muscle tissue	UBERON:0001134	74.34	gold quality
descending thoracic aorta	UBERON:0002345	72.13	gold quality
ascending aorta	UBERON:0001496	72.01	gold quality
thoracic aorta	UBERON:0001515	72.01	gold quality
right coronary artery	UBERON:0001625	71.22	gold quality
muscle tissue	UBERON:0002385	70.83	gold quality
left coronary artery	UBERON:0001626	70.71	gold quality
lower esophagus muscularis layer	UBERON:0035833	68.97	gold quality
lower esophagus	UBERON:0013473	68.82	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	66.75	gold quality
stromal cell of endometrium	CL:0002255	66.74	gold quality
muscle layer of sigmoid colon	UBERON:0035805	66.61	gold quality
mucosa of stomach	UBERON:0001199	66.03	gold quality
right atrium auricular region	UBERON:0006631	64.89	gold quality
right testis	UBERON:0004534	62.39	gold quality
left testis	UBERON:0004533	62.22	gold quality
left uterine tube	UBERON:0001303	61.97	gold quality
heart	UBERON:0000948	61.88	gold quality
apex of heart	UBERON:0002098	61.59	gold quality
testis	UBERON:0000473	61.51	gold quality
colon	UBERON:0001155	60.80	gold quality
endocervix	UBERON:0000458	60.60	gold quality
body of uterus	UBERON:0009853	60.40	gold quality
urinary bladder	UBERON:0001255	59.78	gold quality
smooth muscle tissue	UBERON:0001135	59.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.38

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
caenorhabditis_elegans		WBGENE00006436

Paralogs (9): SPEG (ENSG00000072195), MYOT (ENSG00000120729), PALLD (ENSG00000129116), ALPK3 (ENSG00000136383), MYPN (ENSG00000138347), HMCN1 (ENSG00000143341), OBSCN (ENSG00000154358), IGFN1 (ENSG00000163395), CCDC141 (ENSG00000163492)

Protein

Protein identifiers

SPEG neighbor protein — A0A087WV53 (reviewed: A0A087WV53)

All UniProt accessions (1): A0A087WV53

RefSeq proteins (1): NP_001273740* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050958	Cell_Adh-Cytoskel_Orgn	Family

Pfam: PF00612, PF07679

UniProt features (4 total): domain 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A087WV53-F1	90.36	0.77

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 4 (showing top): GOMF_PROTEIN_KINASE_ACTIVITY, GOMF_KINASE_ACTIVITY, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, chr2q35

GO Biological Process (0):

GO Molecular Function (2): protein kinase activity (GO:0004672), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1

Protein interactions and networks

STRING

638 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPEGNB	CXCR5	P32302	259
SPEGNB	PROC	P04070	244
SPEGNB	CXCR4	P30991	244
SPEGNB	PEX6	Q13608	238
SPEGNB	BCCIP	Q9P287	231
SPEGNB	ABCC6	P78420	218
SPEGNB	FANCL	Q9NW38	218
SPEGNB	RAG2	P55895	215
SPEGNB	VWF	P04275	212
SPEGNB	PEX7	O00628	210
SPEGNB	AFMID	Q63HM1	206
SPEGNB	FANCM	Q8IYD8	204
SPEGNB	BARX1	Q9HBU1	188
SPEGNB	CUL7	Q14999	184
SPEGNB	BRCA2	P51587	183

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A087WV53, A1CS92, A2ABU4, A2Q908, A2RUH7, A4QZL9, D3ZHA0, O01761, O70468, O75369, O88599, P05548, P11275, P11730, P11798, P13466, P21333, P56276, P56741, P70402, P79280, Q05623, Q13177, Q13203, Q13557, Q14315, Q2GM53, Q2HJF7, Q2URB7, Q5FW53, Q5PQM4, Q5RCC4, Q5VTT5, Q5ZJJ9, Q5ZKI0, Q62422, Q63518, Q6C1H8, Q6P686, Q6PHZ2

Diamond homologs: A0A087WV53, A2AAJ9, A2ASS6, A2RUH7, O75147, O94856, O94898, P05548, P52179, P54296, P97685, Q00872, Q23551, Q52KR2, Q5VST9, Q62234, Q80W87, Q810U3, Q8WX93, Q92626, A1KZ92, A2AJ76, A4IFW2, A4IGL7, A6NDA9, B0BNK7, B0V2N1, D2HFT7, D3YXG0, D4A1J9, D4ABX8, F1NWE3, G5EG78, O15146, O73775, O75325, P07722, P15364, P20916, P20917

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1545 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:219497073:C:A	N131K	0.999
2:219497073:C:G	N131K	0.999
2:219497824:T:A	W181R	0.999
2:219497824:T:C	W181R	0.999
2:219497826:G:C	W181C	0.999
2:219497826:G:T	W181C	0.999
2:219498086:T:C	L205P	0.999
2:219496939:T:A	W87R	0.998
2:219496939:T:C	W87R	0.998
2:219496941:G:C	W87C	0.998
2:219496941:G:T	W87C	0.998
2:219497015:T:C	L112P	0.998
2:219497053:T:G	Y125D	0.998
2:219497825:G:C	W181S	0.998
2:219498144:C:A	N224K	0.998
2:219498144:C:G	N224K	0.998
2:219496940:G:C	W87S	0.997
2:219497054:A:C	Y125S	0.997
2:219497783:T:C	L167P	0.997
2:219498124:T:G	Y218D	0.997
2:219498125:A:C	Y218S	0.997
2:219498143:A:T	N224I	0.996
2:219496898:T:C	L73P	0.995
2:219497066:T:A	V129D	0.995
2:219497081:G:T	G134V	0.995
2:219498092:T:C	I207T	0.995
2:219496947:G:C	K89N	0.994
2:219496947:G:T	K89N	0.994
2:219497788:G:C	A169P	0.994
2:219497824:T:G	W181G	0.994

dbSNP variants (sampled 300 via entrez): RS1000943529 (2:219496586 G>A), RS1001184136 (2:219495640 A>T), RS1001917076 (2:219498313 G>A,C), RS1002237220 (2:219496925 A>C,T), RS1003250569 (2:219498415 C>A,T), RS1004775924 (2:219496218 G>A), RS1005210854 (2:219495919 C>T), RS1005270913 (2:219498582 C>G), RS1005319417 (2:219498352 C>T), RS1007327969 (2:219494782 G>A), RS1007444026 (2:219495004 A>T), RS1007620194 (2:219494416 A>G), RS1007656283 (2:219494140 G>T), RS1008317605 (2:219496863 G>A), RS1008847983 (2:219496677 C>A,G)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Niclosamide	increases expression	1
Smoke	decreases expression	1
Triclosan	decreases expression	1

Clinical trials (associated diseases)

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