SPADH

Summary

SPADH (spermadhesin family member, HGNC:55808) is a protein-coding gene on chromosome 10q26.13, encoding CUB domain-containing protein (A0A494C103).

At a glance

• MANE Select transcript: NM_001364461

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55808
Approved symbol	SPADH
Name	spermadhesin family member
Location	10q26.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000286135
Ensembl biotype	protein_coding
Entrez	112577516

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000652090

RefSeq mRNA: 1 — MANE Select: NM_001364461 NM_001364461

CCDS: CCDS91369

Canonical transcript exons

ENST00000652090 — 4 exons

Exon	Start	End
ENSE00003843119	122675641	122675670
ENSE00003843463	122672850	122672927
ENSE00003848092	122676756	122676891
ENSE00003848564	122678847	122679494

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 57.44.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	57.44	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	39.06	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
gall bladder	UBERON:0002110	35.48	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
tonsil	UBERON:0002372	33.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
skin of abdomen	UBERON:0001416	31.93	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
monocyte	CL:0000576	30.05	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
leukocyte	CL:0000738	29.83	gold quality
prefrontal cortex	UBERON:0000451	29.24	gold quality
zone of skin	UBERON:0000014	29.18	gold quality
liver	UBERON:0002107	28.52	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
skin of leg	UBERON:0001511	27.11	gold quality
urinary bladder	UBERON:0001255	26.90	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.01	gold quality
placenta	UBERON:0001987	25.81	gold quality
right lung	UBERON:0002167	25.44	gold quality
right atrium auricular region	UBERON:0006631	25.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.57

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

CUB domain-containing protein — A0A494C103 (reviewed: A0A494C103)

All UniProt accessions (1): A0A494C103

RefSeq proteins (1): NP_001351390* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000859	CUB_dom	Domain
IPR035914	Sperma_CUB_dom_sf	Homologous_superfamily

Pfam: PF00431

UniProt features (5 total): disulfide bond 2, signal peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A494C103-F1	87.32	0.75

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): 30–51, 75–96

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr10q26

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

272 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPADH	CDCP1	Q9H5V8	624
SPADH	NETO1	Q8TDF5	623
SPADH	NETO2	Q8NC67	404
SPADH	SCUBE3	Q8IX30	397
SPADH	CD6	P30203	363
SPADH	CNIH1	O95406	355
SPADH	BMP1	P13497	338
SPADH	C1R	P00736	303
SPADH	C1S	P09871	297
SPADH	ARRDC1	Q8N5I2	284
SPADH	GRIK2	Q13002	279
SPADH	SHISA9	B4DS77	272
SPADH	TACSTD2	P09758	259
SPADH	GRIK3	Q13003	258
SPADH	KARS1	Q15046	232

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0A7LRQ7, A0A172M485, A0A494C103, A0A6B9L3R4, A0A888, B1A4P8, B7T7N1, C0HK14, C7YS44, D9UBG0, D9UBI3, G5ED65, H2A0L3, L0GB04, O45879, O76411, O95711, P0DKQ8, P0DQG2, P10379, P15501, P25607, P29392, P35495, P35496, P46555, P82292, P86728, P86785, P86983, P93114, P93193, Q09271, Q20170, Q21038, Q25410, Q28920, Q3T0L5, Q45KX2, Q61G93

Diamond homologs: A0A494C103, P24020, P26322, P26776, P29392, P35495, P35496, P80720, P82292, Q28920, Q4A3R3, Q60997, O70244, Q9UGM3, Q86UP6, Q8BZE1, P98069, Q15113, Q7RTZ1, Q7Z407, Q80T79, Q923L3, Q96PZ7, Q9JLB4, Q9TU53, Q9Y5Y6, Q95218

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

895 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:122676830:T:A	C51S	0.995
10:122676831:G:C	C51S	0.995
10:122676838:G:C	W53C	0.995
10:122676838:G:T	W53C	0.995
10:122676830:T:C	C51R	0.990
10:122676767:T:A	C30S	0.988
10:122676768:G:C	C30S	0.988
10:122676832:C:G	C51W	0.987
10:122676836:T:A	W53R	0.984
10:122676836:T:C	W53R	0.984
10:122678920:T:A	C96S	0.982
10:122678921:G:C	C96S	0.982
10:122678969:T:A	I112N	0.980
10:122678969:T:G	I112S	0.979
10:122676831:G:A	C51Y	0.977
10:122679019:T:G	Y129D	0.977
10:122678982:A:C	R116S	0.975
10:122678982:A:T	R116S	0.975
10:122678867:A:T	E78V	0.973
10:122679008:T:G	F125C	0.973
10:122676794:G:T	G39C	0.970
10:122676801:T:C	I41T	0.970
10:122678921:G:A	C96Y	0.970
10:122679014:T:A	I127K	0.970
10:122676767:T:C	C30R	0.969
10:122676768:G:A	C30Y	0.969
10:122676769:T:G	C30W	0.968
10:122678866:G:A	E78K	0.968
10:122678975:A:G	Y114C	0.968
10:122678857:T:A	C75S	0.967

dbSNP variants (sampled 300 via entrez): RS1000138317 (10:122679463 A>T), RS1000457698 (10:122678571 G>GA), RS1000543987 (10:122675902 G>A,C), RS1000732076 (10:122672479 G>A), RS1001248868 (10:122672939 C>G), RS1002009974 (10:122678967 C>G,T), RS1002210742 (10:122678342 T>C), RS1002240299 (10:122672864 T>C,G), RS1002251254 (10:122674611 A>G), RS1002865029 (10:122674158 T>C), RS1002889770 (10:122671984 T>C), RS1002920961 (10:122671687 C>T), RS1003857279 (10:122677274 T>G), RS1004391658 (10:122677801 G>A), RS1005105249 (10:122676262 A>C)

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)

Clinical trials (associated diseases)

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