Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79645
Gene name	Calaxin
Gene symbol	CLXN
Synonyms (NCBI Gene)	CILD53EFCAB1ODAD5
Chromosome	8
Chromosome location	8q11.21

Show/Hide all (82)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023964	hsa-miR-1-3p	Microarray	18668037
MIRT512603	hsa-miR-494-3p	PAR-CLIP	22012620
MIRT512602	hsa-miR-187-5p	PAR-CLIP	22012620
MIRT512601	hsa-miR-518a-5p	PAR-CLIP	22012620
MIRT512600	hsa-miR-527	PAR-CLIP	22012620
MIRT512603	hsa-miR-494-3p	PAR-CLIP	23446348
MIRT512602	hsa-miR-187-5p	PAR-CLIP	23446348
MIRT512601	hsa-miR-518a-5p	PAR-CLIP	23446348
MIRT512600	hsa-miR-527	PAR-CLIP	23446348
MIRT496205	hsa-miR-6769a-3p	PAR-CLIP	22291592
MIRT496204	hsa-miR-4749-3p	PAR-CLIP	22291592
MIRT496203	hsa-miR-1538	PAR-CLIP	22291592
MIRT496202	hsa-miR-4745-3p	PAR-CLIP	22291592
MIRT496201	hsa-miR-4639-5p	PAR-CLIP	22291592
MIRT496200	hsa-miR-328-3p	PAR-CLIP	22291592
MIRT512602	hsa-miR-187-5p	PAR-CLIP	26701625
MIRT512602	hsa-miR-187-5p	PAR-CLIP	26701625
MIRT512602	hsa-miR-187-5p	PAR-CLIP	26701625
MIRT512602	hsa-miR-187-5p	PAR-CLIP	26701625
MIRT512603	hsa-miR-494-3p	PAR-CLIP	26701625
MIRT512603	hsa-miR-494-3p	PAR-CLIP	26701625
MIRT512603	hsa-miR-494-3p	PAR-CLIP	26701625
MIRT512603	hsa-miR-494-3p	PAR-CLIP	26701625
MIRT512601	hsa-miR-518a-5p	PAR-CLIP	26701625
MIRT512601	hsa-miR-518a-5p	PAR-CLIP	26701625
MIRT512601	hsa-miR-518a-5p	PAR-CLIP	26701625
MIRT512601	hsa-miR-518a-5p	PAR-CLIP	26701625
MIRT512600	hsa-miR-527	PAR-CLIP	26701625
MIRT512600	hsa-miR-527	PAR-CLIP	26701625
MIRT512600	hsa-miR-527	PAR-CLIP	26701625
MIRT512600	hsa-miR-527	PAR-CLIP	26701625
MIRT738393	hsa-miR-3136-5p	HITS-CLIP	33718276
MIRT512603	hsa-miR-494-3p	PAR-CLIP	22012620
MIRT512602	hsa-miR-187-5p	PAR-CLIP	22012620
MIRT512601	hsa-miR-518a-5p	PAR-CLIP	22012620
MIRT512600	hsa-miR-527	PAR-CLIP	22012620
MIRT512603	hsa-miR-494-3p	PAR-CLIP	23446348
MIRT512602	hsa-miR-187-5p	PAR-CLIP	23446348
MIRT512601	hsa-miR-518a-5p	PAR-CLIP	23446348
MIRT512600	hsa-miR-527	PAR-CLIP	23446348
MIRT496205	hsa-miR-6769a-3p	PAR-CLIP	22291592
MIRT496204	hsa-miR-4749-3p	PAR-CLIP	22291592
MIRT496203	hsa-miR-1538	PAR-CLIP	22291592
MIRT496202	hsa-miR-4745-3p	PAR-CLIP	22291592
MIRT496201	hsa-miR-4639-5p	PAR-CLIP	22291592
MIRT496200	hsa-miR-328-3p	PAR-CLIP	22291592
MIRT953453	hsa-miR-1207-3p	CLIP-seq
MIRT953454	hsa-miR-1228	CLIP-seq
MIRT953455	hsa-miR-138	CLIP-seq
MIRT953456	hsa-miR-1909	CLIP-seq
MIRT953457	hsa-miR-1912	CLIP-seq
MIRT953458	hsa-miR-377	CLIP-seq
MIRT953459	hsa-miR-3919	CLIP-seq
MIRT953460	hsa-miR-3925-5p	CLIP-seq
MIRT738390	hsa-miR-412	CLIP-seq
MIRT953461	hsa-miR-4297	CLIP-seq
MIRT953462	hsa-miR-4318	CLIP-seq
MIRT738392	hsa-miR-4439	CLIP-seq
MIRT738391	hsa-miR-4513	CLIP-seq
MIRT953463	hsa-miR-4650-5p	CLIP-seq
MIRT953464	hsa-miR-4756-3p	CLIP-seq
MIRT953465	hsa-miR-4797-5p	CLIP-seq
MIRT953466	hsa-miR-486-3p	CLIP-seq
MIRT953467	hsa-miR-548q	CLIP-seq
MIRT953468	hsa-miR-589	CLIP-seq
MIRT953469	hsa-miR-615-3p	CLIP-seq
MIRT953470	hsa-miR-759	CLIP-seq
MIRT953471	hsa-miR-1185	CLIP-seq
MIRT953472	hsa-miR-3605-5p	CLIP-seq
MIRT953473	hsa-miR-3679-5p	CLIP-seq
MIRT953474	hsa-miR-4539	CLIP-seq
MIRT953475	hsa-miR-4760-5p	CLIP-seq
MIRT953476	hsa-miR-4762-3p	CLIP-seq
MIRT953477	hsa-miR-4773	CLIP-seq
MIRT953478	hsa-miR-4797-3p	CLIP-seq
MIRT953479	hsa-miR-562	CLIP-seq
MIRT738390	hsa-miR-412	CLIP-seq
MIRT738392	hsa-miR-4439	CLIP-seq
MIRT738391	hsa-miR-4513	CLIP-seq
MIRT2448688	hsa-miR-3177-5p	CLIP-seq
MIRT2448689	hsa-miR-4276	CLIP-seq
MIRT2448690	hsa-miR-4302	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	ISS
GO:0003352	Process	Regulation of cilium movement	IEA
GO:0003352	Process	Regulation of cilium movement	ISS
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	31429579
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IDA	31429579
GO:0036158	Process	Outer dynein arm assembly	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1901317	Process	Regulation of flagellated sperm motility	IEA
GO:1901317	Process	Regulation of flagellated sperm motility	ISS

MIM	HGNC	e!Ensembl
619564	25678	ENSG00000034239

Q9HAE3

Protein name

Calaxin (EF-hand calcium-binding domain-containing protein 1)

Protein function

Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Seems to regulate the assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (By s

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13499	EF-hand_7	102 → 175	EF-hand domain pair	Domain

Tissue specificity

TISSUE SPECIFICITY: Strong expression in the respiratory epithelium (PubMed:36727596). Expressed in the sperm (PubMed:36727596). {ECO:0000269|PubMed:36727596}.

Sequence

MNRKKLQKLTDTLTKNCKHFNKFEVNCLIKLFYDLVGGVERQGLVVGLDRNAFRNILHVT
FGMTDDMIMDRVFRGFDKDNDGCVNVLEWIHGLSLFLRGSLEEKMKYCFEVFDLNGDGFI
SKEEMFHMLKNSLLKQPSEEDPDEGIKDLVEITLKKMDHDHDGKLSFADYELAVREETLL
LEAFGPCLPDPKSQMEFEAQVFKDPNEFNDM

Sequence length

211

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ciliary dyskinesia, primary, 53	Likely pathogenic; Pathogenic	rs751867551, rs1803178017, rs2536798209	RCV003445283 RCV003445284 RCV003445285	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CILIARY DYSKINESIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinogenesis	Carcinogenesis	Pubtator	28069692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30569177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CLXN (calaxin)