CATSPERT

Summary

CATSPERT (catsper channel auxiliary subunit tau, HGNC:14438) is a protein-coding gene on chromosome 2q33.1, encoding Cation channel sperm-associated targeting subunit tau (Q53TS8). Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation.

An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction.

Source: NCBI Gene 151254 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 169 total — 1 pathogenic
• GTEx eGene: eQTL in 15 tissues, sQTL in 1 (q < 0.05)
• Phenotypes (HPO): 4
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.91 (unconstrained)
• MANE Select transcript: NM_001168221
• Notable: 169 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14438
Approved symbol	CATSPERT
Name	catsper channel auxiliary subunit tau
Location	2q33.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25351
Ensembl gene	ENSG00000155754
Ensembl biotype	protein_coding
OMIM	619776
Entrez	151254

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 15 protein_coding, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000439140

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 1, TSL 3: 1

ENST00000439140, ENST00000286195, ENST00000439802, ENST00000450242, ENST00000482942, ENST00000957096, ENST00000957097, ENST00000957098, ENST00001044372, ENST00001044373, ENST00001092141, ENST00001092142, ENST00001114087, ENST00001114088, ENST00001127470, ENST00001144208

RefSeq mRNA: 4 — MANE Select: NM_001168221 NM_001168216, NM_001168217, NM_001168221, NM_152525

CCDS: CCDS2349, CCDS54428, CCDS54429, CCDS54430

Canonical transcript exons

ENST00000439140 — 16 exons

Exon	Start	End
ENSE00001076310	201547505	201547610
ENSE00001076311	201604611	201604697
ENSE00001076312	201603224	201603275
ENSE00001076313	201601739	201601884
ENSE00001076316	201571941	201572020
ENSE00001076317	201565729	201565872
ENSE00001076318	201582095	201582217
ENSE00001076321	201545543	201545621
ENSE00001076322	201575282	201575326
ENSE00001076323	201574209	201574277
ENSE00001200709	201536021	201536320
ENSE00001200712	201537436	201537479
ENSE00001401463	201618900	201619178
ENSE00001704203	201487421	201487902
ENSE00001778001	201491169	201494759
ENSE00003568413	201495895	201495969

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 95.63.

FANTOM5 (CAGE): breadth broad, TPM avg 0.6685 / max 81.1953, expressed in 293 samples.

Highest expression (Bgee): sperm, testis, calcaneal tendon, male germ line stem cell (sensu Vertebrata) in testis, buccal mucosa cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CATSPERT is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 15 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

16 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Heart Left Ventricle	eqtl	3.9e-53	+0.69	2:201603413:T:A
Heart Atrial Appendage	eqtl	7.0e-19	+0.40	2:201600120:TA:T
Nerve Tibial	eqtl	9.9e-07	-0.48	2:201482535:T:G
Pituitary	eqtl	8.7e-06	+0.29	2:201337028:ATTGT:A
Artery Tibial	eqtl	4.8e-05	-0.56	2:201430211:C:T
Testis	sqtl	1.1e-03	+0.51	2:201535604:T:C
Colon Transverse	eqtl	2.6e-03	-0.55	2:201426773:C:G
Skin Not Sun Exposed Suprapubic	eqtl	6.8e-03	-0.56	2:201503247:T:A
Brain Cerebellum	eqtl	1.3e-02	-0.72	2:201426773:C:G
Adipose Subcutaneous	eqtl	1.6e-02	-0.47	2:201430211:C:T
Colon Sigmoid	eqtl	2.0e-02	-0.41	2:201177663:T:G
Adrenal Gland	eqtl	2.1e-02	+0.53	2:201484214:G:C
Testis	eqtl	3.0e-02	-0.11	2:201833053:GT:G
Esophagus Muscularis	eqtl	3.2e-02	+0.53	2:200874001:T:C
Esophagus Gastroesophageal Junction	eqtl	4.3e-02	+1.04	2:201381782:A:G
Adipose Visceral Omentum	eqtl	4.8e-02	-0.21	2:200848731:T:C

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
33237	0.6020	276
33235	0.0665	18

Top tissues by expression

showing 100 of 245 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.63	gold quality
left testis	UBERON:0004533	88.83	gold quality
right testis	UBERON:0004534	88.16	gold quality
testis	UBERON:0000473	86.92	gold quality
calcaneal tendon	UBERON:0003701	85.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.25	gold quality
buccal mucosa cell	CL:0002336	84.10	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.17	gold quality
adrenal tissue	UBERON:0018303	80.14	gold quality
colonic epithelium	UBERON:0000397	79.74	gold quality
secondary oocyte	CL:0000655	72.99	gold quality
tendon	UBERON:0000043	71.51	gold quality
Brodmann (1909) area 9	UBERON:0013540	69.53	gold quality
mucosa of paranasal sinus	UBERON:0005030	68.64	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	67.71	gold quality
apex of heart	UBERON:0002098	66.89	gold quality
corpus callosum	UBERON:0002336	66.69	gold quality
oocyte	CL:0000023	66.29	gold quality
anterior cingulate cortex	UBERON:0009835	65.84	gold quality
spinal cord	UBERON:0002240	65.37	gold quality
lower esophagus mucosa	UBERON:0035834	64.87	gold quality
pituitary gland	UBERON:0000007	64.59	gold quality
adenohypophysis	UBERON:0002196	64.27	gold quality
left adrenal gland	UBERON:0001234	63.97	gold quality
lower lobe of lung	UBERON:0008949	63.87	silver quality
cerebellar hemisphere	UBERON:0002245	63.67	gold quality
right atrium auricular region	UBERON:0006631	63.45	gold quality
right adrenal gland	UBERON:0001233	63.28	gold quality
right frontal lobe	UBERON:0002810	63.26	gold quality
hypothalamus	UBERON:0001898	63.25	gold quality
cerebellar cortex	UBERON:0002129	63.11	gold quality
left adrenal gland cortex	UBERON:0035825	63.10	gold quality
adrenal gland	UBERON:0002369	63.04	gold quality
cardiac atrium	UBERON:0002081	62.86	gold quality
right ovary	UBERON:0002118	62.74	gold quality
heart left ventricle	UBERON:0002084	62.35	gold quality
left ovary	UBERON:0002119	62.33	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	62.25	gold quality
nucleus accumbens	UBERON:0001882	62.12	gold quality
heart	UBERON:0000948	61.69	gold quality
cardiac ventricle	UBERON:0002082	61.68	gold quality
right hemisphere of cerebellum	UBERON:0014890	61.63	gold quality
amygdala	UBERON:0001876	61.48	gold quality
cerebellum	UBERON:0002037	61.19	gold quality
adrenal cortex	UBERON:0001235	61.08	gold quality
right adrenal gland cortex	UBERON:0035827	60.95	gold quality
ovary	UBERON:0000992	60.76	gold quality
descending thoracic aorta	UBERON:0002345	60.35	gold quality
caudate nucleus	UBERON:0001873	59.97	gold quality
left coronary artery	UBERON:0001626	58.68	gold quality
putamen	UBERON:0001874	58.54	gold quality
gall bladder	UBERON:0002110	58.15	gold quality
ascending aorta	UBERON:0001496	58.03	gold quality
nerve	UBERON:0001021	57.96	gold quality
tibial nerve	UBERON:0001323	57.96	gold quality
thoracic aorta	UBERON:0001515	57.61	gold quality
mucosa of transverse colon	UBERON:0004991	57.61	gold quality
brain	UBERON:0000955	57.33	gold quality
forebrain	UBERON:0001890	57.32	gold quality
coronary artery	UBERON:0001621	57.20	gold quality
adult organism	UBERON:0007023	56.99	gold quality
islet of Langerhans	UBERON:0000006	56.91	gold quality
mucosa of stomach	UBERON:0001199	56.84	gold quality
Ammon’s horn	UBERON:0001954	56.38	gold quality
right uterine tube	UBERON:0001302	56.37	gold quality
substantia nigra	UBERON:0002038	56.34	gold quality
aorta	UBERON:0000947	56.16	gold quality
body of uterus	UBERON:0009853	56.13	gold quality
muscle layer of sigmoid colon	UBERON:0035805	55.73	gold quality
cerebral cortex	UBERON:0000956	55.39	gold quality
tibial artery	UBERON:0007610	55.29	gold quality
popliteal artery	UBERON:0002250	55.24	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	54.93	gold quality
primary visual cortex	UBERON:0002436	54.38	gold quality
midbrain	UBERON:0001891	54.37	gold quality
neocortex	UBERON:0001950	54.35	gold quality
right lung	UBERON:0002167	53.74	gold quality
muscle of leg	UBERON:0001383	53.27	gold quality
lower esophagus muscularis layer	UBERON:0035833	52.70	gold quality
right coronary artery	UBERON:0001625	52.69	gold quality
uterus	UBERON:0000995	52.66	gold quality
lower esophagus	UBERON:0013473	52.66	gold quality
female reproductive system	UBERON:0000474	52.64	gold quality
subcutaneous adipose tissue	UBERON:0002190	52.55	gold quality
stromal cell of endometrium	CL:0002255	52.39	silver quality
temporal lobe	UBERON:0001871	52.34	gold quality
anatomical system	UBERON:0000467	52.28	gold quality
lung	UBERON:0002048	52.20	gold quality
ectocervix	UBERON:0012249	52.17	gold quality
material anatomical entity	UBERON:0000465	52.16	gold quality
multicellular organism	UBERON:0000468	52.13	gold quality
endometrium	UBERON:0001295	52.12	gold quality
gastrocnemius	UBERON:0001388	52.07	gold quality
myometrium	UBERON:0001296	52.01	gold quality
germinal epithelium of ovary	UBERON:0001304	51.99	gold quality
frontal cortex	UBERON:0001870	51.79	gold quality
skeletal muscle organ	UBERON:0014892	51.59	gold quality
smooth muscle tissue	UBERON:0001135	51.40	gold quality
uterine cervix	UBERON:0000002	51.18	gold quality
prostate gland	UBERON:0002367	51.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.27

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 61 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Testis	tissue	37.3
Amygdala	tissue	4.3
Cerebral cortex	tissue	4.2
Retrosplenial and cingulate cortex	tissue	4.2
Retrosplenial cortex	tissue	4.2
Insular cortex	tissue	4.2
Basal ganglia	tissue	4.1
Corpus callosum	tissue	4.1
Ventral forebrain	tissue	4.1
Putamen	tissue	4.0
Choroid plexus	tissue	4.0
Locus coeruleus	tissue	4.0
Temporal cortex	tissue	3.9
Occipital cortex	tissue	3.9
Prefrontal cortex	tissue	3.8
Nucleus accumbens	tissue	3.8
Motor cortex	tissue	3.7
Hippocampal formation	tissue	3.7
Entorhinal cortex	tissue	3.7
Cerebellum	tissue	3.5
Periaqueductal gray	tissue	3.5
Hypothalamus	tissue	3.4
Olfactory bulb	tissue	3.3
Septum	tissue	3.3
Somatosensory cortex	tissue	3.3
Hippocampus	tissue	3.1
Midbrain	tissue	2.9
Substantia nigra	tissue	2.7
Medulla oblongata	tissue	2.4
Pons	tissue	2.3
Thalamus	tissue	2.3
Superior colliculi	tissue	2.2
Spinal cord	tissue	2.1
Postcentral gyrus	tissue	1.9
Heart muscle	tissue	1.1
Retina	tissue	0.8
Ovary	tissue	0.8
Pituitary gland	tissue	0.6
Adipose tissue	tissue	0.6
Adrenal gland	tissue	0.5
Gallbladder	tissue	0.4
Prostate	tissue	0.3
Breast	tissue	0.2
Endometrium 1	tissue	0.2
Lung	tissue	0.2
Cervix	tissue	0.1
Skin 1	tissue	0.1
Lymph node	tissue	0.1
Vagina	tissue	0.1
Seminal vesicle	tissue	0.1
Esophagus	tissue	0.1
Skeletal muscle	tissue	0.1
Smooth muscle	tissue	0.1
Urinary bladder	tissue	0.1
Epididymis	tissue	0.1
Placenta	tissue	0.1
Thyroid gland	tissue	0.1
Spleen	tissue	0.1
Kidney	tissue	0.1
Duodenum	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Cerebellar white matter (15.7), Nucleus raphe obscurus (14.1), Dorsal funiculus (white matter) (12.9), Anterior funiculus (white matter) (12.5), Medial olivary nucleus (11.7).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CATSPERT by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

29 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-182-3P	99.57	67.57	825
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-569	99.42	66.32	1009
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4424	98.91	70.33	1145
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-5197-3P	98.71	67.05	1905
HSA-MIR-628-5P	98.36	67.74	844
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-218-2-3P	98.08	67.21	601
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-597-3P	96.46	68.03	1035
HSA-MIR-152-5P	96.42	66.59	960

Functional genomics

gnomAD constraint: pLI 1.13e-26, LOEUF 0.908, missense Z 3.33 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000439140 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
2:201,487,615–201,536,281	1262 / 1582.6	0.80	no
2:201,536,282–201,619,130	483 / 501.4	0.96	no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	C2cd6	ENSMUSG00000072295
rattus_norvegicus	C2cd6	ENSRNOG00000012637

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1920713) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.

Mouse phenotype (MP)	Records
impaired fertilization	1
male infertility	1
abnormal sperm flagellum morphology	1
decreased hyperactivated sperm motility	1

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
FLACC1	protein-coding	130540
STRADB	protein-coding	55437
TRAK2	protein-coding	66008
CASP8	protein-coding	841
TMEM237	protein-coding	65062
MPP4	protein-coding	58538
ALS2	protein-coding	57679
CDK15	protein-coding	65061

Protein

Protein identifiers

Cation channel sperm-associated targeting subunit tau — Q53TS8 (reviewed: Q53TS8)

Alternative names: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein, C2 calcium-dependent domain-containing protein 6, Catsper channel auxiliary subunit tau

All UniProt accessions (2): A0A140VJE2, Q53TS8

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 CatSper complex targeting and trafficking into the quadrilinear nanodomains. Targets the preassembled CatSper complexes to elongating flagella, where it links the channel-carrying vesicles and motor proteins.

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. SLCO6C1 interacts with CATSPERE and 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.

Tissue specificity. Expressed in testis (at protein level).

Disease relevance. Spermatogenic failure 68 (SPGF68) [MIM:619805] An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia. The disease may be caused by variants affecting the gene represented in this entry.

Isoforms (4)

UniProt ID	Names	Canonical?
Q53TS8-4	1, L	yes
Q53TS8-1	2, S
Q53TS8-2	3
Q53TS8-3	4

RefSeq proteins (4): NP_001161688, NP_001161689, NP_001161693, NP_689738 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR031462	CTSRT	Family
IPR048363	CTSRT_C2	Domain

Pfam: PF15729

UniProt features (18 total): splice variant 5, region of interest 4, sequence variant 3, sequence conflict 3, chain 1, domain 1, compositionally biased region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53TS8-F1	39.82	0.03

Human Protein Atlas

Protein class: Predicted intracellular proteins, Disease related genes, Human disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): principal piece; acrosome; equatorial segment

Antibody reliability (HPA): IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 86 (showing top): TGCGCANK_UNKNOWN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, GOBP_SPERM_CAPACITATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, TTGGAGA_MIR5155P_MIR519E, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GOCC_VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX, GOCC_MOTILE_CILIUM, GOCC_CATION_CHANNEL_COMPLEX

GO Biological Process (4): spermatogenesis (GO:0007283), flagellated sperm motility (GO:0030317), sperm capacitation (GO:0048240), vesicle-mediated transport to the plasma membrane (GO:0098876)

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

GO Cellular Component (2): CatSper complex (GO:0036128), sperm principal piece (GO:0097228)

GO top-level categories

15 GO namespaces:

Category	Terms
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
exocytosis	1
vesicle-mediated transport	1
localization within membrane	1
binding	1
voltage-gated calcium channel complex	1
sperm flagellum	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 7 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
sperm principal piece	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 542 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CATSPERT	EFCAB9	A8MZ26	733
CATSPERT	SPACDR	Q8IZ16	703
CATSPERT	CATSPERE	Q5SY80	701
CATSPERT	CCIN	Q13939	629
CATSPERT	SPATA16	Q9BXB7	597
CATSPERT	CCDC62	Q6P9F0	592
CATSPERT	CATSPER2	Q96P56	557
CATSPERT	CATSPER3	Q86XQ3	545
CATSPERT	TMEM237	Q96Q45	527
CATSPERT	ZPBP	Q9BS86	519
CATSPERT	TRIM69	Q86WT6	517
CATSPERT	CATSPERZ	Q9NTU4	506
CATSPERT	DPY19L2	Q6NUT2	500
CATSPERT	C22orf23	Q9BZE7	494
CATSPERT	TSACC	Q96A04	475

Disease & clinical

Genetic variants

Variant evidence for CATSPERT: 169 ClinVar records (1 pathogenic / likely pathogenic); 4 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	130
Likely benign	24
Benign	1

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1345025	NM_001168221.2(C2CD6):c.338A>G (p.His113Arg)	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore CATSPERT’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 22 predictions of 2,013):

Position(s)	Effect	Δscore	Sites
2:201545541–201545542	donor_loss	1.0000	5
2:201545622–201545623	acceptor_loss	1.0000	5
2:201547503–201547504	donor_loss	1.0000	5
2:201582227	acceptor_gain	1.0000
2:201507853	acceptor_gain	0.9900
2:201507861	acceptor_gain	0.9900
2:201545622	acceptor_loss	0.9900
2:201545630	acceptor_gain	0.9900
2:201547503	donor_loss	0.9900
2:201547611	acceptor_loss	0.9900

AlphaMissense

584 missense substitutions predicted likely pathogenic (of 12,098 scored), across 153 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F239	8	0.938	0.993
N182	8	0.923	0.988
F264	8	0.923	0.985
F163	8	0.897	0.982
F169	8	0.891	0.985
F291	8	0.864	0.976
H250	8	0.863	0.943
H207	8	0.847	0.957
W340	7	0.931	0.985
F248	7	0.908	0.984
R326	7	0.899	0.982
C231	7	0.889	0.993
C117	7	0.888	0.984
F244	7	0.886	0.951
C109	7	0.885	0.982
M330	7	0.881	0.968
D179	7	0.880	0.905
F217	7	0.821	0.970
F237	7	0.813	0.966
D275	7	0.663	0.820

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Testicular Germ Cell Tumor)

Disease associations

OMIM: gene MIM:619776 | disease phenotypes: MIM:619805

GenCC curated gene-disease

Mondo (1): spermatogenic failure 68 (MONDO:0030721)

HPO phenotypes

4 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0003251	Male infertility
HP:0011462	Young adult onset
HP:0012205	Globozoospermia

GWAS associations

4 associations:

Study	Trait	p-value
GCST90002390_569	Mean corpuscular hemoglobin	3e-9
GCST009665_1	Breast cancer	2e-8
GCST010105_130	Nicotine dependence symptom count	1e-6
GCST012145_13	Ferritin levels	2e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0009262	nicotine dependence symptom count
EFO:0004459	ferritin measurement
EFO:0004527	mean corpuscular hemoglobin

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
(+)-JQ1 compound	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Estradiol	decreases expression	1
Antirheumatic Agents	increases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 300 trials:

NCT	Phase	Status	Title
NCT00029224	Phase 4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	Phase 4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	Phase 4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	Phase 4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	Phase 4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	Phase 4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	Phase 4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	Phase 4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	Phase 4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	Phase 4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	Phase 4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	Phase 4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	Phase 4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	Phase 4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	Phase 4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	Phase 4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	Phase 4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	Phase 4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	Phase 4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	Phase 4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	Phase 4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	Phase 4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	Phase 4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	Phase 4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	Phase 4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	Phase 4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	Phase 4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	Phase 4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	Phase 4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	Phase 4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	Phase 4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	Phase 4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	Phase 4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	Phase 4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	Phase 4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	Phase 4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	Phase 4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	Phase 4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	Phase 4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	Phase 4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer
NCT01673984	Phase 4	TERMINATED	GP Extended Action Triptorelin
NCT01753297	Phase 4	COMPLETED	A Study of Immediate 9 Months Adjuvant Hormone Therapy With Triptorelin 11.25 mg Versus Active Surveillance After Radical Prostatectomy in High Risk Prostate Cancer Patients.
NCT01794793	Phase 4	COMPLETED	Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in Novartis-sponsored Studies
NCT01950871	Phase 4	TERMINATED	Prostate Guided Biopsy Study Evaluating the Diagnostic Performance of Prostate HistoScanning
NCT01995513	Phase 4	COMPLETED	Safety Study of Continued Enzalutamide Treatment In Prostate Cancer Patients
NCT02102646	Phase 4	COMPLETED	MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism
NCT02116582	Phase 4	COMPLETED	A Study to Evaluate Enzalutamide After Abiraterone in Metastatic Castration-Resistant Prostate Cancer
NCT02149628	Phase 4	COMPLETED	The Effect of Propofol Based Total Intravenous Anesthesia on Oxidative Stress and Nitric Oxide
NCT02405858	Phase 4	COMPLETED	A Study of Abiraterone Acetate in Metastatic Castration-Resistant Prostate Cancer Participants Who Responded Poorly to the First-line Combined Androgen Blockade Therapy
NCT02441517	Phase 4	TERMINATED	A Study of Enzalutamide Re-treatment in Metastatic Castration-resistant Prostate Cancer After Docetaxel and/or Cabazitaxel Treatment
NCT02441894	Phase 4	COMPLETED	Combination of Cabazitaxel With Prednisolone With Primary Prophylaxis With PEG-G-CSF in Treatment of Patients With Prostate Cancer
NCT02475057	Phase 4	COMPLETED	Endothelial Function in Prostate Cancer Patients on Degarelix vs. Luteinizing Hormone-Releasing Hormone Agonists
NCT02511665	Phase 4	UNKNOWN	Metformin And Longevity
NCT02651948	Phase 4	COMPLETED	Transperineal, MRI-guided, Prostate Biopsy
NCT02721433	Phase 4	COMPLETED	4-weekly Versus 12-weekly Administration of Bone-targeted Agents in Patients With Bone Metastases
NCT02726009	Phase 4	COMPLETED	A Trial to Evaluate Safety of Firmagon® (Degarelix) in Indian Patients Diagnosed With Advanced Hormone-dependent Prostate Cancer
NCT02749825	Phase 4	TERMINATED	Comparison of Trelstar Versus Lupron or Zoladex in Advanced Prostate Cancer
NCT02757365	Phase 4	UNKNOWN	Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer
NCT02773251	Phase 4	COMPLETED	The Effect of Guardix-solution for the Prevention of Postoperative Intestinal Adhesion and Intestinal Obstruction After Laparoscopic Pelvic Cavity Surgery
NCT02812186	Phase 4	COMPLETED	Deep Versus Moderate Neuromuscular Blockade During Laparoscopic Surgery