SUSD5

Summary

SUSD5 (sushi domain containing 5, HGNC:29061) is a protein-coding gene on chromosome 3p22.3, encoding Sushi domain-containing protein 5 (O60279).

Predicted to enable hyaluronic acid binding activity. Predicted to be involved in Notch signaling pathway. Predicted to be located in membrane.

Source: NCBI Gene 26032 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_015551

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29061
Approved symbol	SUSD5
Name	sushi domain containing 5
Location	3p22.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0527
Ensembl gene	ENSG00000173705
Ensembl biotype	protein_coding
OMIM	619917
Entrez	26032

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000309558, ENST00000412539

RefSeq mRNA: 1 — MANE Select: NM_015551 NM_015551

CCDS: CCDS46787

Canonical transcript exons

ENST00000309558 — 5 exons

Exon	Start	End
ENSE00001200724	33174886	33175074
ENSE00001200726	33207808	33207926
ENSE00001200727	33213928	33214105
ENSE00001200729	33150043	33154033
ENSE00001221647	33218686	33218810

Expression profiles

Bgee: expression breadth ubiquitous, 221 present calls, max score 98.33.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4992 / max 152.9838, expressed in 877 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
41615	1.6762	789
41617	0.6232	275
41616	0.1343	61
41619	0.0428	20
41618	0.0227	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
descending thoracic aorta	UBERON:0002345	98.33	gold quality
blood vessel layer	UBERON:0004797	98.23	gold quality
right coronary artery	UBERON:0001625	97.86	gold quality
thoracic aorta	UBERON:0001515	97.76	gold quality
ascending aorta	UBERON:0001496	97.65	gold quality
aorta	UBERON:0000947	96.90	gold quality
popliteal artery	UBERON:0002250	96.39	gold quality
tibial artery	UBERON:0007610	96.38	gold quality
artery	UBERON:0001637	95.90	gold quality
left coronary artery	UBERON:0001626	93.47	gold quality
coronary artery	UBERON:0001621	93.37	gold quality
cartilage tissue	UBERON:0002418	92.43	gold quality
calcaneal tendon	UBERON:0003701	89.10	gold quality
tibia	UBERON:0000979	86.43	gold quality
choroid plexus epithelium	UBERON:0003911	84.95	gold quality
endothelial cell	CL:0000115	80.93	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.18	gold quality
tendon	UBERON:0000043	80.13	gold quality
Brodmann (1909) area 23	UBERON:0013554	78.06	gold quality
prefrontal cortex	UBERON:0000451	78.01	gold quality
superficial temporal artery	UBERON:0001614	76.91	gold quality
gall bladder	UBERON:0002110	76.07	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.95	gold quality
primary visual cortex	UBERON:0002436	75.95	gold quality
Brodmann (1909) area 9	UBERON:0013540	75.74	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	75.45	gold quality
layer of synovial tissue	UBERON:0007616	74.31	gold quality
frontal cortex	UBERON:0001870	74.21	gold quality
left uterine tube	UBERON:0001303	73.72	gold quality
right frontal lobe	UBERON:0002810	73.47	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.48
E-ENAD-17	no	203.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

137 targeting SUSD5, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4728-5P	99.85	69.39	4718

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	susd5	ENSDARG00000088277
mus_musculus	Susd5	ENSMUSG00000086596
rattus_norvegicus	Susd5	ENSRNOG00000026951

Protein

Protein identifiers

Sushi domain-containing protein 5 — O60279 (reviewed: O60279)

All UniProt accessions (2): O60279, H7C2K7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_056366* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000436	Sushi_SCR_CCP_dom	Domain
IPR000538	Link_dom	Domain
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR035976	Sushi/SCR/CCP_sf	Homologous_superfamily
IPR042059	SUSD5_Link_domain	Domain
IPR053298	Sushi_domain_protein	Family

Pfam: PF00193

UniProt features (19 total): sequence variant 5, disulfide bond 3, topological domain 2, domain 2, region of interest 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60279-F1	55.97	0.11

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 (3): 61–132, 140–184, 167–197

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 90 (showing top): VICENT_METASTASIS_UP, PAPASPYRIDONOS_UNSTABLE_ATEROSCLEROTIC_PLAQUE_DN, chr3p22, BASSO_HAIRY_CELL_LEUKEMIA_UP, GOMF_GLYCOSAMINOGLYCAN_BINDING, CERVERA_SDHB_TARGETS_1_UP, NOUZOVA_METHYLATED_IN_APL, BOQUEST_STEM_CELL_UP, GOMF_HYALURONIC_ACID_BINDING, TAYLOR_METHYLATED_IN_ACUTE_LYMPHOBLASTIC_LEUKEMIA, BRCA1_DN.V1_DN, ZNF146_TARGET_GENES, ZNF22_TARGET_GENES, ZNF618_TARGET_GENES, MIR616_5P

GO Biological Process (2): cell adhesion (GO:0007155), Notch signaling pathway (GO:0007219)

GO Molecular Function (1): hyaluronic acid binding (GO:0005540)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
cell surface receptor signaling pathway	1
carboxylic acid binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

870 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUSD5	NRIP2	Q9BQI9	533
SUSD5	GLT8D2	Q9H1C3	448
SUSD5	XIRP1	Q702N8	445
SUSD5	GRIP2	Q9C0E4	434
SUSD5	SNED1	Q8TER0	426
SUSD5	FAM227A	F5H4B4	378
SUSD5	FIBIN	Q8TAL6	378
SUSD5	ZNF556	Q9HAH1	370
SUSD5	NKPD1	Q17RQ9	362
SUSD5	ZNF471	Q9BX82	356
SUSD5	BEND7	Q8N7W2	329
SUSD5	CFAP119	A1A4V9	313
SUSD5	CSDC2	Q9Y534	308
SUSD5	IZUMO2	Q6UXV1	305
SUSD5	TRIM67	Q6ZTA4	298

IntAct

38 interactions, top by confidence:

A	B	Type	Score
FCN1	POTEF	psi-mi:“MI:0914”(association)	0.530
DEFA5	NUDT19	psi-mi:“MI:0914”(association)	0.530
TAFA4	NRP1	psi-mi:“MI:0914”(association)	0.530
CD1E	SUSD5	psi-mi:“MI:0914”(association)	0.530
SERPINA12	TSPAN6	psi-mi:“MI:0914”(association)	0.530
IGFBP1	SUSD5	psi-mi:“MI:0914”(association)	0.530
AMZ1	SUSD5	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
LGALS8	SLC22A23	psi-mi:“MI:0914”(association)	0.350
CLRN2	FAM234B	psi-mi:“MI:0914”(association)	0.350
CSTL1	DENND11	psi-mi:“MI:0914”(association)	0.350
CD1E	ADAM10	psi-mi:“MI:0914”(association)	0.350
ITGA8	SUSD5	psi-mi:“MI:0914”(association)	0.350
LCTL	SUSD5	psi-mi:“MI:0914”(association)	0.350
AIMP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
AIMP1	TRAFD1	psi-mi:“MI:0914”(association)	0.350
CACYBP	VPS37C	psi-mi:“MI:0914”(association)	0.350
CACYBP	PSMD11	psi-mi:“MI:0914”(association)	0.350
CAPRIN1	VPS37C	psi-mi:“MI:0914”(association)	0.350
CAPRIN1	SDCBP	psi-mi:“MI:0914”(association)	0.350
EIF4A1	SNAP23	psi-mi:“MI:0914”(association)	0.350
PRPSAP1	YKT6	psi-mi:“MI:0914”(association)	0.350

BioGRID (37): SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), SUSD5 (Proximity Label-MS), SUSD5 (Proximity Label-MS), SUSD5 (Proximity Label-MS), SUSD5 (Proximity Label-MS)

ESM2 similar proteins: A0A1B0GV85, A2ALI5, A2APT9, B0BN44, B1ARY8, B6ZI38, O14836, O35188, O55145, O60279, O60667, P07141, P09603, P0C8S2, P28906, P40225, P40226, P42705, P78423, Q06154, Q08DV9, Q13261, Q1ERP8, Q28270, Q2TB54, Q3UY90, Q4V9H3, Q4W8E7, Q5F267, Q5R770, Q60819, Q64314, Q6PAL1, Q6PCP7, Q6UXB8, Q80XI1, Q8BLK9, Q8CAE9, Q8CBC4, Q8JZQ0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 41 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Neutrophil degranulation	6	6.0×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1170 predictions. Top by Δscore:

Variant	Effect	Δscore
3:33154029:CTCAT:C	acceptor_gain	1.0000
3:33154031:CAT:C	acceptor_gain	1.0000
3:33154033:TCTGG:T	acceptor_loss	1.0000
3:33154034:C:CC	acceptor_gain	1.0000
3:33154034:CT:C	acceptor_loss	1.0000
3:33154035:T:A	acceptor_loss	1.0000
3:33175075:C:CC	acceptor_gain	1.0000
3:33213922:ACTT:A	donor_loss	1.0000
3:33213923:CTT:C	donor_loss	1.0000
3:33213924:TTA:T	donor_loss	1.0000
3:33213925:T:TG	donor_loss	1.0000
3:33213926:A:AC	donor_gain	1.0000
3:33213926:A:AG	donor_loss	1.0000
3:33213926:AC:A	donor_gain	1.0000
3:33213927:C:CC	donor_gain	1.0000
3:33213927:CC:C	donor_gain	1.0000
3:33154030:TCAT:T	acceptor_gain	0.9900
3:33154030:TCATC:T	acceptor_gain	0.9900
3:33154031:CATC:C	acceptor_gain	0.9900
3:33154032:AT:A	acceptor_gain	0.9900
3:33175070:CTTCT:C	acceptor_gain	0.9900
3:33175071:TTCT:T	acceptor_gain	0.9900
3:33175073:CT:C	acceptor_gain	0.9900
3:33207927:C:CC	acceptor_gain	0.9900
3:33214101:CTTTC:C	acceptor_gain	0.9900
3:33214105:CC:C	acceptor_loss	0.9900
3:33214105:CCTG:C	acceptor_gain	0.9900
3:33214106:C:CC	acceptor_gain	0.9900
3:33157222:C:CA	donor_gain	0.9800
3:33174880:GCTTA:G	donor_loss	0.9800

AlphaMissense

4092 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:33174914:C:A	W190C	0.996
3:33174914:C:G	W190C	0.996
3:33174916:A:G	W190R	0.993
3:33174916:A:T	W190R	0.993
3:33207822:C:G	C132S	0.990
3:33207823:A:T	C132S	0.990
3:33213948:C:A	W90C	0.990
3:33213948:C:G	W90C	0.990
3:33175047:A:C	F146C	0.989
3:33214036:C:T	C61Y	0.988
3:33174933:C:G	C184S	0.987
3:33174934:A:T	C184S	0.987
3:33174944:G:C	F180L	0.987
3:33174944:G:T	F180L	0.987
3:33174946:A:G	F180L	0.987
3:33207821:A:C	C132W	0.986
3:33207823:A:G	C132R	0.986
3:33214035:G:C	C61W	0.986
3:33174932:A:C	C184W	0.985
3:33214036:C:G	C61S	0.985
3:33214037:A:T	C61S	0.985
3:33174933:C:T	C184Y	0.983
3:33174933:C:A	C184F	0.982
3:33174934:A:G	C184R	0.981
3:33153522:C:A	W370C	0.980
3:33153522:C:G	W370C	0.980
3:33174945:A:C	F180C	0.980
3:33213950:A:G	W90R	0.980
3:33213950:A:T	W90R	0.980
3:33214037:A:G	C61R	0.980

dbSNP variants (sampled 300 via entrez): RS1000036359 (3:33167553 C>T), RS1000128632 (3:33192055 G>A), RS1000166458 (3:33175433 A>G), RS1000195415 (3:33219679 G>A), RS1000234061 (3:33185018 C>G,T), RS1000422215 (3:33172269 CTGT>C), RS1000423316 (3:33161026 A>G), RS1000434392 (3:33186108 C>T), RS1000457464 (3:33220108 C>A,T), RS1000459949 (3:33191782 T>C), RS1000461841 (3:33179469 T>C), RS1000542310 (3:33179706 G>A), RS1000542923 (3:33208319 C>T), RS1000549658 (3:33198228 A>C,G), RS1000636214 (3:33185860 A>G)

Disease associations

OMIM: gene MIM:619917 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST006288_511	Heel bone mineral density	2.000000e-09
GCST008403_39	Arterial stiffness index	8.000000e-06
GCST008916_8	Asthma	5.000000e-09
GCST009798_68	Asthma	3.000000e-12
GCST010002_420	Refractive error	2.000000e-15
GCST010206_8	Anorectal malformation	1.000000e-15
GCST90000025_731	Appendicular lean mass	7.000000e-16
GCST90020028_792	Hip circumference adjusted for BMI	3.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004517	arterial stiffness measurement
EFO:0004980	appendicular lean mass
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	5
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
trichostatin A	decreases expression	1
methylparaben	decreases expression	1
potassium chromate(VI)	decreases expression	1
CGP 52608	increases reaction, affects binding	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
enzalutamide	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cadmium	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	affects cotreatment, increases expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Ribonucleotides	affects binding	1
Silicon Dioxide	increases expression	1
Smoke	increases expression	1
Testosterone	decreases expression	1
Thiram	increases expression	1
Vanadates	increases expression	1
Isotretinoin	increases expression	1
Cadmium Chloride	increases expression	1
S-Nitrosoglutathione	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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