SURF2

Summary

SURF2 (surfeit 2, HGNC:11475) is a protein-coding gene on chromosome 9q34.2, encoding Surfeit locus protein 2 (Q15527).

This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues.

Source: NCBI Gene 6835 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_017503

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11475
Approved symbol	SURF2
Name	surfeit 2
Location	9q34.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000148291
Ensembl biotype	protein_coding
OMIM	185630
Entrez	6835

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000371964, ENST00000486887, ENST00000495524, ENST00000875735, ENST00000875736, ENST00000875737, ENST00000875738, ENST00000934434, ENST00000934436, ENST00000934437, ENST00000934438

RefSeq mRNA: 2 — MANE Select: NM_017503 NM_001278928, NM_017503

CCDS: CCDS6967

Canonical transcript exons

ENST00000371964 — 6 exons

Exon	Start	End
ENSE00000984121	133356914	133357068
ENSE00000984123	133359950	133360129
ENSE00000984124	133360265	133360434
ENSE00001456563	133361056	133361158
ENSE00001456574	133356550	133356670
ENSE00003606175	133357711	133357814

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.3354 / max 155.6243, expressed in 1815 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99266	23.1096	1815
99267	0.2258	79

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.32	gold quality
right testis	UBERON:0004534	97.25	gold quality
testis	UBERON:0000473	96.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.77	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.48	gold quality
temporal lobe	UBERON:0001871	92.46	gold quality
amygdala	UBERON:0001876	92.46	gold quality
prefrontal cortex	UBERON:0000451	92.43	gold quality
anterior cingulate cortex	UBERON:0009835	92.42	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.11	gold quality
substantia nigra	UBERON:0002038	92.09	gold quality
frontal cortex	UBERON:0001870	92.02	gold quality
cerebral cortex	UBERON:0000956	91.85	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.82	gold quality
putamen	UBERON:0001874	91.80	gold quality
Ammon’s horn	UBERON:0001954	91.77	gold quality
right frontal lobe	UBERON:0002810	91.62	gold quality
lower esophagus mucosa	UBERON:0035834	91.49	gold quality
hypothalamus	UBERON:0001898	91.05	gold quality
brain	UBERON:0000955	91.03	gold quality
superior frontal gyrus	UBERON:0002661	90.78	gold quality
caudate nucleus	UBERON:0001873	90.54	gold quality
nucleus accumbens	UBERON:0001882	90.47	gold quality
cerebellum	UBERON:0002037	90.30	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.30	gold quality
cerebellar cortex	UBERON:0002129	90.27	gold quality
primary visual cortex	UBERON:0002436	90.26	gold quality
cerebellar hemisphere	UBERON:0002245	90.23	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.19	gold quality
pituitary gland	UBERON:0000007	90.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.70

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, YY1

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Surf2	ENSMUSG00000014873
rattus_norvegicus	Surf2	ENSRNOG00000066832

Protein

Protein identifiers

Surfeit locus protein 2 — Q15527 (reviewed: Q15527)

All UniProt accessions (1): Q15527

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the SURF2 family.

RefSeq proteins (2): NP_001265857, NP_059973* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008833	Surf2	Family

Pfam: PF05477

UniProt features (15 total): compositionally biased region 5, sequence conflict 4, sequence variant 2, modified residue 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15527-F1	71.05	0.18

Functional residue map

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

Post-translational modifications (2): 190, 195

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 92 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MORF_MSH3, MORF_BRCA1, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, LIAO_METASTASIS, MOOTHA_VOXPHOS, MORF_IL16, MORF_DMPK, MORF_ERCC4, ENK_UV_RESPONSE_EPIDERMIS_UP, MORF_TFDP2, LU_EZH2_TARGETS_UP, BRUINS_UVC_RESPONSE_LATE, ALFANO_MYC_TARGETS, VANOEVELEN_MYOGENESIS_SIN3A_TARGETS

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): nucleoplasm (GO:0005654), nucleolus (GO:0005730), plasma membrane (GO:0005886), nuclear speck (GO:0016607)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	2
binding	1
cellular anatomical structure	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

412 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SURF2	SURF4	O15260	982
SURF2	SURF1	Q15526	962
SURF2	SURF6	O75683	840
SURF2	ERGIC1	Q969X5	714
SURF2	MED22	Q15528	683
SURF2	OXA1L	Q15070	581
SURF2	PREPL	Q4J6C6	575
SURF2	LRRC14	Q15048	456
SURF2	PACRG	Q96M98	453
SURF2	ALG12	Q9BV10	441
SURF2	LMAN1	P49257	436
SURF2	THAP10	Q9P2Z0	400
SURF2	RPL7A	P11518	392
SURF2	TMEM258	P61165	389
SURF2	PSMD13	Q9UNM6	389

IntAct

22 interactions, top by confidence:

A	B	Type	Score
SURF2	RPL5	psi-mi:“MI:0914”(association)	0.800
RPL5	SURF2	psi-mi:“MI:0915”(physical association)	0.800
HEXIM2	AHCYL1	psi-mi:“MI:0914”(association)	0.740
SURF2	HEXIM1	psi-mi:“MI:0914”(association)	0.530
HEATR3	SLC27A2	psi-mi:“MI:0914”(association)	0.530
NPTN	SURF2	psi-mi:“MI:0915”(physical association)	0.370
SURF2	ZNF331	psi-mi:“MI:0915”(physical association)	0.370
SURF2	KPNA6	psi-mi:“MI:0914”(association)	0.350
WDR20	POLR1C	psi-mi:“MI:0914”(association)	0.350
RPL11	RPS3A	psi-mi:“MI:0914”(association)	0.350
RPL5	RPS3A	psi-mi:“MI:0914”(association)	0.350
RPL11	ZNF724	psi-mi:“MI:0914”(association)	0.350
FCGRT	WBP4	psi-mi:“MI:0914”(association)	0.350
RPL11	ZFC3H1	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
PRNP	SURF2	psi-mi:“MI:0407”(direct interaction)	0.000
B4GALT3	SURF2	psi-mi:“MI:0915”(physical association)	0.000
PLAUR	SURF2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (105): POP1 (Affinity Capture-MS), FTSJ3 (Affinity Capture-MS), RPL11 (Affinity Capture-MS), SSB (Affinity Capture-MS), RPL3 (Affinity Capture-MS), RPL5 (Affinity Capture-MS), PABPC4 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), LARP1 (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS), KPNA6 (Affinity Capture-MS), MINA (Affinity Capture-MS), RRS1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), DDX18 (Affinity Capture-MS)

ESM2 similar proteins: A1L131, C0HAV3, C5IJB0, D3ZND0, F1MX48, O54935, O60232, O95400, P18887, P36915, P36916, P56873, Q15527, Q17QX2, Q27J81, Q28H71, Q2KIJ6, Q2YD98, Q3SYU1, Q3ZBN4, Q4R8D2, Q5FVK6, Q5HZH2, Q5PPF5, Q5RA07, Q5T0F9, Q5TM59, Q5U4Z3, Q60596, Q7T0L4, Q7YR35, Q8BIY1, Q8BRN9, Q8N5A5, Q8VDM1, Q8WVB6, Q8WVT3, Q924T7, Q96EP0, Q99JB7

Diamond homologs: O57589, P09926, Q15527

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	60
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

876 predictions. Top by Δscore:

Variant	Effect	Δscore
9:133357065:ACCC:A	donor_gain	1.0000
9:133357069:G:GG	donor_gain	1.0000
9:133357707:GTAG:G	acceptor_loss	1.0000
9:133357708:TA:T	acceptor_loss	1.0000
9:133357709:A:AG	acceptor_gain	1.0000
9:133357709:A:C	acceptor_loss	1.0000
9:133357710:G:GG	acceptor_gain	1.0000
9:133357710:GGC:G	acceptor_gain	1.0000
9:133357810:TAAAT:T	donor_gain	1.0000
9:133357811:AAAT:A	donor_gain	1.0000
9:133357811:AAATG:A	donor_loss	1.0000
9:133357812:AATGT:A	donor_loss	1.0000
9:133357813:AT:A	donor_gain	1.0000
9:133357814:TGTA:T	donor_loss	1.0000
9:133357815:G:GG	donor_gain	1.0000
9:133357815:G:T	donor_loss	1.0000
9:133357816:T:G	donor_loss	1.0000
9:133360263:A:AG	acceptor_gain	1.0000
9:133360264:G:GG	acceptor_gain	1.0000
9:133361054:A:AG	acceptor_gain	1.0000
9:133361055:G:GG	acceptor_gain	1.0000
9:133356659:G:GT	donor_gain	0.9900
9:133356671:G:GG	donor_gain	0.9900
9:133356708:G:GT	donor_gain	0.9900
9:133356903:C:CA	acceptor_gain	0.9900
9:133356905:C:CA	acceptor_gain	0.9900
9:133356913:GGT:G	acceptor_gain	0.9900
9:133356913:GGTGA:G	acceptor_gain	0.9900
9:133357064:AACCC:A	donor_gain	0.9900
9:133357066:CCC:C	donor_gain	0.9900

AlphaMissense

1680 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:133357793:T:G	Y106D	0.994
9:133356989:T:G	Y52D	0.992
9:133357724:T:C	C83R	0.991
9:133357725:G:A	C83Y	0.991
9:133356990:A:C	Y52S	0.990
9:133357721:T:C	F82L	0.990
9:133357723:C:A	F82L	0.990
9:133357723:C:G	F82L	0.990
9:133357775:C:G	H100D	0.990
9:133357055:A:C	S74R	0.989
9:133357057:C:A	S74R	0.989
9:133357057:C:G	S74R	0.989
9:133357726:C:G	C83W	0.989
9:133357794:A:C	Y106S	0.989
9:133356920:T:C	C29R	0.988
9:133357047:T:A	I71N	0.988
9:133357777:C:A	H100Q	0.988
9:133357777:C:G	H100Q	0.988
9:133356963:T:A	L43H	0.986
9:133357740:G:C	R88P	0.986
9:133356971:T:G	Y46D	0.985
9:133356930:C:T	T32I	0.984
9:133357725:G:T	C83F	0.984
9:133357724:T:A	C83S	0.983
9:133357725:G:C	C83S	0.983
9:133357731:T:A	L85H	0.982
9:133357746:T:A	I90N	0.982
9:133357767:T:A	V97E	0.982
9:133356989:T:C	Y52H	0.981
9:133357775:C:A	H100N	0.981

dbSNP variants (sampled 300 via entrez): RS1000085574 (9:133359844 G>T), RS1000122661 (9:133355514 G>A,C), RS1000309002 (9:133355335 C>CCAA), RS1000459492 (9:133356575 T>C), RS1000578270 (9:133356680 G>A), RS1000672356 (9:133360902 C>T), RS1000690252 (9:133355782 C>T), RS1000971325 (9:133354645 A>C), RS1001583495 (9:133356484 G>A,C), RS1001790829 (9:133356106 T>G), RS1001895310 (9:133357182 G>A), RS1002014545 (9:133356610 C>A,G,T), RS1002114837 (9:133356925 C>A,T), RS1002135603 (9:133360607 A>G), RS1003352302 (9:133361249 A>G)

Disease associations

OMIM: gene MIM:185630 | 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
GCST001574_9	Activated partial thromboplastin time	9.000000e-100
GCST010725_19	Malaria	9.000000e-11
GCST010725_31	Malaria	9.000000e-21
GCST010725_98	Malaria	1.000000e-19

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
arsenite	affects binding, increases reaction	1
butyraldehyde	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
cylindrospermopsin	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
corosolic acid	increases expression	1
monomethylarsonous acid	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
Acetaminophen	increases expression	1
Vehicle Emissions	decreases expression, decreases reaction	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ribonucleotides	affects binding	1
Rotenone	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	affects expression	1
Vitamin E	increases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, decreases reaction	1

Clinical trials (associated diseases)

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