CATSPERH

Summary

CATSPERH (catsper channel auxiliary subunit eta, HGNC:49389) is a protein-coding gene on chromosome 11q13.1, encoding Cation channel sperm-associated auxiliary subunit eta (E9PQX1). Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation.

Predicted to be located in motile cilium and plasma membrane. Predicted to be part of CatSper complex.

Source: NCBI Gene 100130348 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_001282448

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49389
Approved symbol	CATSPERH
Name	catsper channel auxiliary subunit eta
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187066
Ensembl biotype	protein_coding
Entrez	100130348

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 non_stop_decay

ENST00000334821, ENST00000524603, ENST00000524632, ENST00000525544, ENST00000528029, ENST00000530719

RefSeq mRNA: 2 — MANE Select: NM_001282448 NM_001242631, NM_001282448

CCDS: CCDS60845

Canonical transcript exons

ENST00000530719 — 3 exons

Exon	Start	End
ENSE00002159742	65088651	65088750
ENSE00003539193	65088376	65088531
ENSE00003915150	65088858	65089110

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 87.59.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium epithelium	UBERON:0004811	87.59	silver quality
paraflocculus	UBERON:0005351	85.23	silver quality
frontal pole	UBERON:0002795	84.78	silver quality
middle frontal gyrus	UBERON:0002702	83.96	silver quality
left testis	UBERON:0004533	83.61	gold quality
tendon of biceps brachii	UBERON:0008188	82.71	silver quality
right testis	UBERON:0004534	82.15	gold quality
vena cava	UBERON:0004087	81.63	gold quality
testis	UBERON:0000473	80.58	gold quality
parotid gland	UBERON:0001831	79.93	gold quality
Brodmann (1909) area 10	UBERON:0013541	79.52	gold quality
triceps brachii	UBERON:0001509	76.72	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	76.08	gold quality
gluteal muscle	UBERON:0002000	75.88	gold quality
cervix squamous epithelium	UBERON:0006922	74.20	gold quality
body of tongue	UBERON:0011876	73.45	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.31	gold quality
cerebellar vermis	UBERON:0004720	73.09	gold quality
layer of synovial tissue	UBERON:0007616	73.07	gold quality
medial globus pallidus	UBERON:0002477	72.51	silver quality
globus pallidus	UBERON:0001875	71.76	silver quality
type B pancreatic cell	CL:0000169	71.18	gold quality
pericardium	UBERON:0002407	71.15	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	70.96	gold quality
pharyngeal mucosa	UBERON:0000355	70.93	gold quality
tongue	UBERON:0001723	70.49	gold quality
trachea	UBERON:0003126	70.25	silver quality
saphenous vein	UBERON:0007318	70.19	gold quality
male germ cell	CL:0000015	70.02	gold quality
sperm	CL:0000019	70.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.14

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem262	ENSMUSG00000047733
rattus_norvegicus	Tmem262	ENSRNOG00000047431

Protein

Protein identifiers

Cation channel sperm-associated auxiliary subunit eta — E9PQX1 (reviewed: E9PQX1)

Alternative names: Cation channel sperm-associated auxiliary subunit TMEM262, Transmembrane protein 262

All UniProt accessions (4): A0A096LNV8, E9PME8, E9PQX1, H0YEQ3

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 (2): NP_001229560, NP_001269377* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040431	TM262	Family

UniProt features (9 total): topological domain 4, transmembrane region 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-E9PQX1-F1	84.28	0.45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 42 (showing top): GOBP_MALE_GAMETE_GENERATION, chr11q13, 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

GO Biological Process (0):

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

GO Cellular Component (6): CatSper complex (GO:0036128), 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	2
binding	1
voltage-gated calcium channel complex	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

154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CATSPERH	RNASE8	Q8TDE3	591
CATSPERH	MBIP	Q9NS73	552
CATSPERH	USP50	Q70EL3	477
CATSPERH	RPL23A	P29316	391
CATSPERH	TMEM263	Q8WUH6	370
CATSPERH	CREB3L1	Q96BA8	336
CATSPERH	PTGDR	Q13258	229
CATSPERH	HOXA9	P31269	217
CATSPERH	FAM3C	Q92520	196
CATSPERH	CACNG3	O60359	0
CATSPERH	SLCO4A1	Q96BD0	0
CATSPERH	CACNG1	Q06432	0
CATSPERH	DDX39A	O00148	0
CATSPERH	CACNG6	Q9BXT2	0
CATSPERH	CATSPERB	Q9H7T0	0
CATSPERH	SYNJ2BP	P57105	0
CATSPERH	EMP1	P54849	0
CATSPERH	SLCO1B1	Q9Y6L6	0
CATSPERH	SLCO5A1	Q9H2Y9	0
CATSPERH	SLCO1B3	Q9NPD5	0
CATSPERH	CACNG4	Q9UBN1	0

IntAct

40 interactions, top by confidence:

A	B	Type	Score
TMEM262	GPR42	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	KLRC1	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	EDA2R	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	CD79A	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	CD3G	psi-mi:“MI:0915”(physical association)	0.560
	TMEM262	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	SLC10A6	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	EMP1	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	SHISAL1	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	UPK1B	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	AQP6	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	FFAR2	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	KLRC1	psi-mi:“MI:0915”(physical association)	0.000
TMEM262	EDA2R	psi-mi:“MI:0915”(physical association)	0.000
TMEM262	CD79A	psi-mi:“MI:0915”(physical association)	0.000
TMEM262	CD3G	psi-mi:“MI:0915”(physical association)	0.000
TMEM262		psi-mi:“MI:0915”(physical association)	0.000
TMEM262	SLC10A6	psi-mi:“MI:0915”(physical association)	0.000
TMEM262	EMP1	psi-mi:“MI:0915”(physical association)	0.000
TMEM262	SHISAL1	psi-mi:“MI:0915”(physical association)	0.000
UPK1B	TMEM262	psi-mi:“MI:0915”(physical association)	0.000
TMEM262	FFAR2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Two-hybrid), TMEM262 (Affinity Capture-RNA)

ESM2 similar proteins: A0A1B4XBI5, A0MD35, A2BP21, A2BUK1, A2C057, A3PAU3, A4QKA0, A5PJ65, A8G5N5, E9PQX1, F5HDD0, O15258, O36388, O48670, O48671, O87787, P04135, P09175, P09298, P0C655, P24412, P28948, P28959, P33464, P36299, P46895, P51765, P52371, P68334, P84400, P9WEK8, Q00138, Q01017, Q04507, Q04565, Q197D8, Q1KZ54, Q31A92, Q3M5L6, Q46JV2

Diamond homologs: D3Z338, E9PQX1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TMEM262	“form complex”	“CatSpermasome complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1049 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65085111:CCAGT:C	acceptor_loss	1.0000
11:65085112:CA:C	acceptor_loss	1.0000
11:65085113:A:AC	acceptor_loss	1.0000
11:65085113:A:AG	acceptor_gain	1.0000
11:65085114:G:A	acceptor_loss	1.0000
11:65085114:G:GA	acceptor_gain	1.0000
11:65085114:GT:G	acceptor_gain	1.0000
11:65085114:GTGC:G	acceptor_gain	1.0000
11:65086404:T:TA	acceptor_gain	1.0000
11:65086715:TCCA:T	acceptor_loss	1.0000
11:65086716:CCA:C	acceptor_loss	1.0000
11:65086718:A:AC	acceptor_loss	1.0000
11:65086718:A:AG	acceptor_gain	1.0000
11:65086719:G:GG	acceptor_gain	1.0000
11:65086719:GATC:G	acceptor_gain	1.0000
11:65086790:ATGGT:A	donor_loss	1.0000
11:65086792:GGTA:G	donor_loss	1.0000
11:65086793:G:GG	donor_gain	1.0000
11:65086794:T:A	donor_loss	1.0000
11:65086920:A:AG	acceptor_gain	1.0000
11:65086923:CACA:C	acceptor_loss	1.0000
11:65086925:CA:C	acceptor_loss	1.0000
11:65086926:A:AC	acceptor_loss	1.0000
11:65086926:A:AG	acceptor_gain	1.0000
11:65086927:G:GT	acceptor_gain	1.0000
11:65086927:GC:G	acceptor_gain	1.0000
11:65086927:GCC:G	acceptor_gain	1.0000
11:65086927:GCCA:G	acceptor_gain	1.0000
11:65086927:GCCAG:G	acceptor_loss	1.0000
11:65087071:CACGG:C	donor_loss	1.0000

AlphaMissense

785 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:65088733:G:C	S64R	0.945
11:65088733:G:T	S64R	0.945
11:65088735:T:G	S64R	0.945
11:65088879:A:C	F51L	0.939
11:65088879:A:T	F51L	0.939
11:65088881:A:G	F51L	0.939
11:65088882:G:C	S50R	0.931
11:65088882:G:T	S50R	0.931
11:65088884:T:G	S50R	0.931
11:65088726:A:G	W67R	0.906
11:65088726:A:T	W67R	0.906
11:65088512:G:C	F98L	0.901
11:65088512:G:T	F98L	0.901
11:65088514:A:G	F98L	0.901
11:65088488:A:C	F106L	0.898
11:65088488:A:T	F106L	0.898
11:65088490:A:G	F106L	0.898
11:65088504:C:G	R101P	0.891
11:65088926:C:G	D36H	0.870
11:65088524:G:C	N94K	0.863
11:65088524:G:T	N94K	0.863
11:65088714:C:A	G71W	0.862
11:65088714:C:G	G71R	0.841
11:65088714:C:T	G71R	0.841
11:65088925:T:G	D36A	0.832
11:65088912:G:C	F40L	0.831
11:65088912:G:T	F40L	0.831
11:65088914:A:G	F40L	0.831
11:65088505:G:T	R101S	0.830
11:65088924:G:C	D36E	0.817

dbSNP variants (sampled 300 via entrez): RS1003766030 (11:65088815 G>A,C,T), RS1006182685 (11:65089277 G>A), RS1006319661 (11:65090899 AC>A), RS1006659505 (11:65087958 G>C,T), RS1007123759 (11:65090149 C>T), RS1007607650 (11:65088479 G>A,T), RS1008158913 (11:65088231 A>G), RS1008368782 (11:65090824 G>A), RS1009763918 (11:65088713 C>G,T), RS1010732437 (11:65089643 T>C), RS1011180377 (11:65090020 A>G), RS1011891652 (11:65088572 T>G), RS1012130374 (11:65090666 C>T), RS1012608782 (11:65089027 C>G,T), RS1012678142 (11:65090371 A>T)

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

1 associations (top):

Study	Trait	p-value
GCST010512_15	Serum uric acid levels	5.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004761	uric acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aminomethylphosphonic acid (AMPA)	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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