CATSPERQ

Summary

CATSPERQ (catsper channel auxiliary subunit theta, HGNC:44155) is a protein-coding gene on chromosome 8q24.3, encoding Cation channel sperm-associated auxiliary subunit theta (Q2WGJ8). Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation.

Predicted to be located in sperm principal piece. Predicted to be part of CatSper complex.

Source: NCBI Gene 340393 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 11 total — 2 pathogenic
• MANE Select transcript: NM_001280561

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44155
Approved symbol	CATSPERQ
Name	catsper channel auxiliary subunit theta
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	C8orfK29
Ensembl gene	ENSG00000261587
Ensembl biotype	protein_coding
Entrez	340393

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000561638, ENST00000562477, ENST00000565365, ENST00000696145, ENST00000696146, ENST00000696147, ENST00000696148

RefSeq mRNA: 3 — MANE Select: NM_001280561 NM_001252402, NM_001252404, NM_001280561

CCDS: CCDS59117

Canonical transcript exons

ENST00000645530 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 123 present calls, max score 86.05.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0462 / max 53.2280, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95657	0.0317	3
95656	0.0145	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	86.05	gold quality
left testis	UBERON:0004533	85.84	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.17	gold quality
testis	UBERON:0000473	84.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.16	gold quality
cerebellar hemisphere	UBERON:0002245	77.44	gold quality
cerebellar cortex	UBERON:0002129	77.38	gold quality
cerebellum	UBERON:0002037	77.34	gold quality
mucosa of transverse colon	UBERON:0004991	69.02	gold quality
cortical plate	UBERON:0005343	65.80	gold quality
primary visual cortex	UBERON:0002436	65.64	gold quality
granulocyte	CL:0000094	65.45	gold quality
right frontal lobe	UBERON:0002810	64.47	gold quality
ganglionic eminence	UBERON:0004023	63.34	gold quality
Brodmann (1909) area 9	UBERON:0013540	61.74	gold quality
brain	UBERON:0000955	61.69	gold quality
adenohypophysis	UBERON:0002196	61.08	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	61.08	gold quality
pituitary gland	UBERON:0000007	60.92	gold quality
superior frontal gyrus	UBERON:0002661	60.60	gold quality
anterior cingulate cortex	UBERON:0009835	60.60	gold quality
frontal cortex	UBERON:0001870	60.21	gold quality
cerebral cortex	UBERON:0000956	60.15	gold quality
putamen	UBERON:0001874	59.46	gold quality
nucleus accumbens	UBERON:0001882	59.21	gold quality
caudate nucleus	UBERON:0001873	59.14	gold quality
right lobe of liver	UBERON:0001114	58.93	gold quality
amygdala	UBERON:0001876	58.08	gold quality
temporal lobe	UBERON:0001871	58.04	gold quality
ventricular zone	UBERON:0003053	57.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting CATSPERQ, 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-4481	100.00	66.42	1669
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-4523	85.64	61.16	64

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem249	ENSMUSG00000116376
rattus_norvegicus		ENSRNOG00000088314

Protein

Protein identifiers

Cation channel sperm-associated auxiliary subunit theta — Q2WGJ8 (reviewed: Q2WGJ8)

Alternative names: Cation channel sperm-associated auxiliary subunit TMEM249, Catsper channel auxiliary subunit theta, Transmembrane protein 249

All UniProt accessions (5): A0A075B740, A0A8Q3SIE1, A0A8Q3SIF7, A0A8Q3SII3, Q2WGJ8

UniProt curated annotations — full annotation on UniProt →

Function. Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation.

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.

RefSeq proteins (3): NP_001239331, NP_001239333, NP_001267490* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027861	TMEM249	Family

Pfam: PF15158

UniProt features (8 total): topological domain 3, transmembrane region 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2WGJ8-F1	79.42	0.43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 31 (showing top): 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, 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, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_CALCIUM_CHANNEL_COMPLEX

GO Biological Process (0):

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
voltage-gated calcium channel complex	1
sperm flagellum	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

100 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CATSPERQ	CACNG3	O60359	0
CATSPERQ	CACNG1	Q06432	0
CATSPERQ	CACNG6	Q9BXT2	0
CATSPERQ	CATSPERB	Q9H7T0	0
CATSPERQ	CACNG4	Q9UBN1	0
CATSPERQ	CACNA1C	Q13936	0
CATSPERQ	CACNG8	Q8WXS5	0
CATSPERQ	CATSPER3	Q86XQ3	0
CATSPERQ	CACNA1D	Q01668	0
CATSPERQ	CACHD1	Q5VU97	0
CATSPERQ	FAM227B	Q96M60	0
CATSPERQ	CACNG2	Q9Y698	0
CATSPERQ	CACNB3	P54284	0
CATSPERQ	CATSPER1	Q8NEC5	0
CATSPERQ	CACNB2	Q08289	0
CATSPERQ	MYPOP	Q86VE0	0
CATSPERQ	STAC3	Q96MF2	0
CATSPERQ	FBXL6	Q8N531	0
CATSPERQ	CACNA1H	O95180	0
CATSPERQ	PDE4B	Q07343	0
CATSPERQ	PDE4D	Q08499	0
CATSPERQ	FAM227A	F5H4B4	0
CATSPERQ	CACNA2D1	P54289	0
CATSPERQ	CACNA1G	O43497	0
CATSPERQ	RYR1	P21817	0
CATSPERQ	CACNA1S	Q13698	0
CATSPERQ	CATSPERE	Q5SY80	0
CATSPERQ	CACNA1E	Q15878	0
CATSPERQ	CACNA1B	Q00975	0
CATSPERQ	CACNA1F	O60840	0

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8VHF7, A0JM23, A2QRA0, A4IIA7, A4IIV4, A6NFN9, A6NHR9, A7MBF6, F4IG73, F4JSE7, O17482, O95876, P12540, P21784, P34089, P38899, P55895, P56696, Q08AW4, Q0D2D7, Q12789, Q13829, Q28DC9, Q2WGJ8, Q3E7Y5, Q3UUE9, Q4R907, Q4VXA5, Q5BK83, Q5EA90, Q5F476, Q5HZS2, Q5M9F0, Q5RAX4, Q5RBH4, Q5RD21, Q6AYL6, Q6DGA7, Q6PIY5, Q70XZ2

Diamond homologs: A0A2R8VHF7, Q2WGJ8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TMEM249	“form complex”	“CatSpermasome complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	Pathogenic
2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	Pathogenic

SpliceAI

953 predictions. Top by Δscore:

Variant	Effect	Δscore
8:144353860:TGGG:T	acceptor_gain	1.0000
8:144353861:GGG:G	acceptor_gain	1.0000
8:144353861:GGGC:G	acceptor_loss	1.0000
8:144353862:GG:G	acceptor_gain	1.0000
8:144353862:GGC:G	acceptor_loss	1.0000
8:144353863:GC:G	acceptor_loss	1.0000
8:144353863:GCT:G	acceptor_loss	1.0000
8:144353864:C:CC	acceptor_gain	1.0000
8:144353864:CTGCG:C	acceptor_loss	1.0000
8:144353865:T:G	acceptor_loss	1.0000
8:144353950:TTAC:T	donor_loss	1.0000
8:144353951:TACCA:T	donor_loss	1.0000
8:144353952:ACCA:A	donor_loss	1.0000
8:144353953:C:CA	donor_loss	1.0000
8:144353953:C:CT	donor_loss	1.0000
8:144353980:TAG:T	donor_gain	1.0000
8:144353981:AGA:A	donor_gain	1.0000
8:144354234:CA:C	donor_gain	1.0000
8:144354234:CACCT:C	donor_gain	1.0000
8:144353524:TTTG:T	acceptor_gain	0.9900
8:144353525:TTG:T	acceptor_gain	0.9900
8:144353526:TG:T	acceptor_gain	0.9900
8:144353526:TGCT:T	acceptor_loss	0.9900
8:144353528:C:CC	acceptor_gain	0.9900
8:144353838:C:CT	acceptor_gain	0.9900
8:144353859:GTGGG:G	acceptor_gain	0.9900
8:144353952:A:AC	donor_gain	0.9900
8:144353953:C:CC	donor_gain	0.9900
8:144353953:CCAT:C	donor_gain	0.9900
8:144353961:G:C	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000629880 (8:144353496 C>T), RS1000980824 (8:144353168 G>A,C,T), RS1001646326 (8:144355357 C>T), RS1002706581 (8:144354425 A>G), RS1004043581 (8:144353968 G>A,T), RS1005040997 (8:144352834 G>A), RS1005093315 (8:144353029 C>T), RS1005662727 (8:144354811 C>A,T), RS1005716528 (8:144355139 G>A,T), RS1007930777 (8:144353692 G>A), RS1009604202 (8:144354738 G>A), RS1011236482 (8:144355639 G>A,C), RS1012907528 (8:144356741 C>T), RS1014486920 (8:144354202 G>A,C), RS1015385465 (8:144353978 C>A,G,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:131950, MIM:226670, MIM:612138, MIM:613723, MIM:616487

GenCC curated gene-disease

Mondo (5): epidermolysis bullosa simplex 5A, Ogna type (MONDO:0007555), epidermolysis bullosa simplex 5B, with muscular dystrophy (MONDO:0009181), epidermolysis bullosa simplex 5C, with pyloric atresia (MONDO:0012807), autosomal recessive limb-girdle muscular dystrophy type 2Q (MONDO:0013390), epidermolysis bullosa simplex with nail dystrophy (MONDO:0014661)

Orphanet (4): Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684), Plectin-related limb-girdle muscular dystrophy R17 (Orphanet:254361), Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257), PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (Orphanet:79401)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
C535955	Epidermolysa bullosa simplex and limb girdle muscular dystrophy (supp.)
C567408	Epidermolysis Bullosa Simplex With Pyloric Atresia (supp.)
C535962	Epidermolysis bullosa simplex, Ogna type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Polychlorinated Biphenyls	affects expression	1
Rotenone	decreases expression	1
Silicon Dioxide	increases expression	1
Valproic Acid	increases methylation	1
Gold Compounds	increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05989620	Not specified	RECRUITING	Long-Term Development of Muscular Dystrophy Outcome Assessments