CATSPERD

Summary

CATSPERD (catsper channel auxiliary subunit delta, HGNC:28598) is a protein-coding gene on chromosome 19p13.3, encoding Cation channel sperm-associated auxiliary subunit delta (Q86XM0). Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation.

Predicted to be involved in flagellated sperm motility and sperm capacitation. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in sperm principal piece.

Source: NCBI Gene 257062 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 151 total
• MANE Select transcript: NM_152784

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28598
Approved symbol	CATSPERD
Name	catsper channel auxiliary subunit delta
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC39581
Ensembl gene	ENSG00000174898
Ensembl biotype	protein_coding
OMIM	617490
Entrez	257062

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000309164, ENST00000381624, ENST00000448307

RefSeq mRNA: 1 — MANE Select: NM_152784 NM_152784

CCDS: CCDS12149

Canonical transcript exons

ENST00000381624 — 22 exons

Exon	Start	End
ENSE00003464613	5720637	5720808
ENSE00003470889	5772788	5772965
ENSE00003479850	5778376	5778734
ENSE00003487784	5737138	5737205
ENSE00003507264	5744427	5744510
ENSE00003508500	5739326	5739439
ENSE00003517260	5770944	5771072
ENSE00003524133	5776161	5776315
ENSE00003528023	5757843	5757932
ENSE00003557287	5768168	5768242
ENSE00003557783	5749101	5749183
ENSE00003558217	5748160	5748255
ENSE00003564342	5729872	5729944
ENSE00003569799	5766103	5766155
ENSE00003583882	5754132	5754245
ENSE00003595026	5727268	5727344
ENSE00003614886	5751647	5751823
ENSE00003615427	5724808	5724862
ENSE00003631497	5745913	5746063
ENSE00003636893	5733856	5733970
ENSE00003641610	5759086	5759144
ENSE00003651024	5763215	5763293

Expression profiles

Bgee: expression breadth ubiquitous, 119 present calls, max score 98.15.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1757 / max 49.6193, expressed in 68 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173431	0.1141	28
173432	0.0323	19
173430	0.0292	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.15	gold quality
right uterine tube	UBERON:0001302	96.54	gold quality
bronchus	UBERON:0002185	95.60	gold quality
oocyte	CL:0000023	89.61	gold quality
right testis	UBERON:0004534	87.43	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.21	gold quality
mucosa of paranasal sinus	UBERON:0005030	86.88	gold quality
left testis	UBERON:0004533	86.77	gold quality
testis	UBERON:0000473	83.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.02	gold quality
oviduct epithelium	UBERON:0004804	78.38	gold quality
secondary oocyte	CL:0000655	78.25	gold quality
fallopian tube	UBERON:0003889	77.47	gold quality
sperm	CL:0000019	74.11	silver quality
adult organism	UBERON:0007023	73.38	gold quality
epithelium of nasopharynx	UBERON:0001951	73.18	gold quality
right lung	UBERON:0002167	70.45	gold quality
caput epididymis	UBERON:0004358	66.91	gold quality
nasal cavity mucosa	UBERON:0001826	64.48	gold quality
left uterine tube	UBERON:0001303	60.87	gold quality
mucosa of stomach	UBERON:0001199	57.58	gold quality
tibialis anterior	UBERON:0001385	55.05	silver quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
nasal cavity epithelium	UBERON:0005384	53.99	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
cortical plate	UBERON:0005343	53.48	gold quality
epithelial cell of pancreas	CL:0000083	53.04	gold quality
lung	UBERON:0002048	51.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.11

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Catsperd	ENSMUSG00000040828
rattus_norvegicus	Catsperd	ENSRNOG00000048818

Protein

Protein identifiers

Cation channel sperm-associated auxiliary subunit delta — Q86XM0 (reviewed: Q86XM0)

Alternative names: Transmembrane protein 146

All UniProt accessions (1): Q86XM0

UniProt curated annotations — full annotation on UniProt →

Function. Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane.

Subunit / interactions. Component of the CatSper complex or CatSpermasome composed of the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE, CATSPERZ, CATSPERT, CATSPERQ, CATSPERH and EFCAB9. HSPA1 may be an additional auxiliary complex member. The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form a heterotetrameric channel. The auxiliary CATSPERB, CATSPERG, CATSPERD and CATSPERE subunits form a pavilion-like structure over the pore which stabilizes the complex through interactions with CATSPER4, CATSPER3, CATSPER1 and CATSPER2 respectively. CATSPERH interacts with CATSPERB, further stabilizing the complex. CATSPERT interacts at least with CATSPERD and is required for targeting the CatSper complex in the flagellar membrane.

Subcellular location. Cell projection. Cilium. Flagellum membrane.

Similarity. Belongs to the CATSPERD family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86XM0-1	1	yes
Q86XM0-2	2

RefSeq proteins (1): NP_689997* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028751	CATSPERD/E	Family
IPR053813	CATSPERD_beta-prop	Domain
IPR053814	CATSPERD/E_C	Domain
IPR055451	Ig-like_CATSPERD	Domain

Pfam: PF15020, PF22850, PF23747

UniProt features (24 total): disulfide bond 7, glycosylation site 6, splice variant 3, sequence variant 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86XM0-F1	86.43	0.63

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 (7): 23–369, 59–145, 144–152, 387–496, 510–701, 525–572, 624–652

Glycosylation sites (6): 630, 123, 230, 240, 472, 538

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1300642	Sperm Motility And Taxes

MSigDB gene sets: 98 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_MALE_GAMETE_GENERATION, GOBP_SPERM_CAPACITATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CELL_MATURATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOCC_VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX, GOCC_MOTILE_CILIUM, GOCC_CATION_CHANNEL_COMPLEX, GOCC_SPERM_PRINCIPAL_PIECE, GOCC_TRANSPORTER_COMPLEX

GO Biological Process (4): spermatogenesis (GO:0007283), flagellated sperm motility (GO:0030317), sperm capacitation (GO:0048240), cell differentiation (GO:0030154)

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

GO Cellular Component (7): plasma membrane (GO:0005886), CatSper complex (GO:0036128), sperm principal piece (GO:0097228), cilium (GO:0005929), membrane (GO:0016020), motile cilium (GO:0031514), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Fertilization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
developmental process involved in reproduction	2
male gamete generation	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
spermatid development	1
cellular process involved in reproduction in multicellular organism	1
cell maturation	1
cellular developmental process	1
binding	1
membrane	1
cell periphery	1
voltage-gated calcium channel complex	1
sperm flagellum	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CATSPERD	CATSPER1	Q8NEC5	930
CATSPERD	CATSPERB	Q9H7T0	924
CATSPERD	CATSPER4	Q7RTX7	833
CATSPERD	CATSPERG	Q6ZRH7	806
CATSPERD	CATSPER3	Q86XQ3	781
CATSPERD	CATSPER2	Q96P56	748
CATSPERD	CATSPERZ	Q9NTU4	682
CATSPERD	EFCAB9	A8MZ26	609
CATSPERD	PRR22	Q8IZ63	580
CATSPERD	PMIS2	A0A1W2PS18	446
CATSPERD	KCNU1	A8MYU2	442
CATSPERD	SLC9C1	Q4G0N8	438
CATSPERD	HVCN1	Q96D96	420
CATSPERD	TMEM247	A6NEH6	391
CATSPERD	ARRDC5	A6NEK1	370

IntAct

13 interactions, top by confidence:

A	B	Type	Score
CATSPERD	HLCS	psi-mi:“MI:0915”(physical association)	0.590
LNX1	CATSPERD	psi-mi:“MI:0915”(physical association)	0.560
CATSPERD	KLK6	psi-mi:“MI:0915”(physical association)	0.560
CATSPERD	BACE2	psi-mi:“MI:0915”(physical association)	0.560
CATSPERD	GET4	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (5): CATSPERD (Two-hybrid), HLCS (Affinity Capture-MS), HLCS (Affinity Capture-MS), GET4 (Affinity Capture-MS), CATSPERD (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTW7, A0A1D5NSK0, A0A1D5NSM8, A0A1L8HYT7, A0A286YEC0, A0M8S8, A1X150, A2AVA0, B3DK56, E2RK30, E9PZ36, E9Q6D8, F8W3R9, G5E8Q8, P08581, P08F94, P0C6B8, P0DP43, P16056, P86091, P97523, P98136, Q00PJ8, Q07DV8, Q07E01, Q07E24, Q07E37, Q07E48, Q09YI9, Q09YK0, Q09YN5, Q108U6, Q2IBC0, Q2IBF2, Q2QL89, Q2QLA9, Q2QLC0, Q4LDE5, Q61YG1, Q62190

Diamond homologs: B5DFM7, E1B9E5, E9Q9F6, Q86XM0, Q95JI2, P0DP43, A0A0A6YXX9, Q5SY80

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CATSPERD	“form complex”	“CatSpermasome complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	125
Likely benign	16
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3469 predictions. Top by Δscore:

Variant	Effect	Δscore
19:5720796:C:G	donor_gain	1.0000
19:5720800:GCTCT:G	donor_gain	1.0000
19:5720801:C:G	donor_gain	1.0000
19:5727262:CTCTA:C	acceptor_loss	1.0000
19:5727263:TCTA:T	acceptor_loss	1.0000
19:5727264:CTAGG:C	acceptor_loss	1.0000
19:5727265:TA:T	acceptor_loss	1.0000
19:5727266:A:AG	acceptor_gain	1.0000
19:5727266:AGGA:A	acceptor_loss	1.0000
19:5727267:G:A	acceptor_loss	1.0000
19:5727267:G:GG	acceptor_gain	1.0000
19:5727341:TAGGG:T	donor_loss	1.0000
19:5727342:AGGGT:A	donor_loss	1.0000
19:5727343:GG:G	donor_gain	1.0000
19:5727344:GG:G	donor_gain	1.0000
19:5727344:GGTA:G	donor_loss	1.0000
19:5727345:G:A	donor_loss	1.0000
19:5727345:G:GG	donor_gain	1.0000
19:5727346:T:A	donor_loss	1.0000
19:5745909:CCA:C	acceptor_loss	1.0000
19:5745910:CA:C	acceptor_loss	1.0000
19:5745911:A:AC	acceptor_loss	1.0000
19:5745911:A:AG	acceptor_gain	1.0000
19:5745911:AG:A	acceptor_gain	1.0000
19:5745912:G:GG	acceptor_gain	1.0000
19:5745912:G:GT	acceptor_loss	1.0000
19:5745912:GG:G	acceptor_gain	1.0000
19:5745912:GGGC:G	acceptor_gain	1.0000
19:5746062:AGGT:A	donor_loss	1.0000
19:5746063:GGTGA:G	donor_loss	1.0000

AlphaMissense

5251 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:5772894:T:A	C624S	0.998
19:5772895:G:C	C624S	0.998
19:5772956:G:C	W644C	0.997
19:5772956:G:T	W644C	0.997
19:5772894:T:C	C624R	0.996
19:5772896:T:G	C624W	0.996
19:5776173:T:A	C652S	0.996
19:5776173:T:C	C652R	0.996
19:5776174:G:A	C652Y	0.996
19:5776174:G:C	C652S	0.996
19:5759096:T:C	L460P	0.995
19:5771072:T:C	L588P	0.995
19:5772917:G:C	W631C	0.995
19:5772917:G:T	W631C	0.995
19:5772954:T:A	W644R	0.995
19:5772954:T:C	W644R	0.995
19:5776175:C:G	C652W	0.995
19:5778382:T:G	C701W	0.995
19:5757852:A:C	S430R	0.994
19:5757854:C:A	S430R	0.994
19:5757854:C:G	S430R	0.994
19:5757868:T:C	L435P	0.994
19:5757931:T:C	L456P	0.994
19:5763234:T:C	S483P	0.994
19:5763273:T:C	C496R	0.994
19:5766124:T:A	C510S	0.994
19:5766125:G:C	C510S	0.994
19:5772895:G:A	C624Y	0.994
19:5778380:T:A	C701S	0.994
19:5778380:T:C	C701R	0.994

dbSNP variants (sampled 300 via entrez): RS1000019060 (19:5741509 A>G), RS1000031550 (19:5757858 C>A,T), RS1000084373 (19:5747463 C>T), RS1000122652 (19:5738829 G>C), RS1000145140 (19:5749045 T>A), RS1000175500 (19:5738597 AATAAC>A), RS1000210366 (19:5773970 T>TA), RS1000246957 (19:5721244 C>G,T), RS1000266599 (19:5747093 C>A,T), RS1000320147 (19:5724602 G>C), RS1000415889 (19:5719641 C>T), RS1000488039 (19:5719828 C>G,T), RS1000578986 (19:5774262 G>A,C), RS1000604325 (19:5762689 G>A), RS1000615163 (19:5723059 C>A,T)

Disease associations

OMIM: gene MIM:617490 | 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

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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