CLXN calaxin [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLXNprovided by HGNC
Official Full Name: calaxinprovided by HGNC
Primary source: HGNC:HGNC:25678
See related: Ensembl:ENSG00000034239 MIM:619564; AllianceGenome:HGNC:25678
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ODAD5; CILD53; EFCAB1
Summary: Predicted to enable calcium ion binding activity. Predicted to be involved in cilium movement; outer dynein arm assembly; and regulation of flagellated sperm motility. Predicted to be located in cilium. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis (RPKM 3.0), lung (RPKM 2.5) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q11.21

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (48710789..48735311, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (49088639..49113160, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (49623348..49647870, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Title: Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Blood pressure and hypertension are associated with 7 loci in the Japanese population.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ciliary dyskinesia, primary, 53 MedGen: C5882728 OMIM: 620642 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G43632 (e-PCR)
- UniSTS:95061

RH94007 (e-PCR)
- UniSTS:85100

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cilium movement	ISS Inferred from Sequence or Structural Similarity more info
involved_in outer dynein arm assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cilium movement	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calaxin

Names: EF-hand calcium binding domain 1; EF-hand calcium-binding domain-containing protein 1; outer dynein arm docking complex subunit 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001142857.2 → NP_001136329.1 calaxin isoform b

See identical proteins and their annotated locations for NP_001136329.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AC022915, AK299659, DB204697, DC336596

Consensus CDS

CCDS47853.1

Related

ENSP00000400873.1, ENST00000433756.1

Conserved Domains (1) summary

cl25352
Location:19 → 118

EFh_PEF; The penta-EF hand (PEF) family
NM_001363973.3 → NP_001350902.1 calaxin isoform b

Status: VALIDATED

Source sequence(s)

AC022915, BC025676, BP376567, CB250588, DB204697, DC414358

Consensus CDS

CCDS47853.1

Related

ENSP00000430940.1, ENST00000522254.5

Conserved Domains (1) summary

cl25352
Location:19 → 118

EFh_PEF; The penta-EF hand (PEF) family
NM_001363974.2 → NP_001350903.1 calaxin isoform b

Status: VALIDATED

Source sequence(s)

AC022915, AK316037, BC025676, CB250588, DB204697, DB536362, DC414358

Consensus CDS

CCDS47853.1

Related

ENSP00000430765.1, ENST00000523092.5

Conserved Domains (1) summary

cl25352
Location:19 → 118

EFh_PEF; The penta-EF hand (PEF) family
NM_024593.4 → NP_078869.1 calaxin isoform a

See identical proteins and their annotated locations for NP_078869.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC022915, BC025676, CB250588, DB204697, DB536362

Consensus CDS

CCDS6145.1

UniProtKB/Swiss-Prot

B4DSB4, E7EVN7, Q9HAE3

Related

ENSP00000262103.3, ENST00000262103.8

Conserved Domains (1) summary

cl25352
Location:48 → 170

EFh_PEF; The penta-EF hand (PEF) family

RNA

NR_024605.3 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' region, uses an alternate splice site in the central region and includes an additional splice junction in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as in variant 1, would result in nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC022915, BC025676, BP375493, CB250588, DA174619, DB204697
NR_157026.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC022915, AK307101, DB204697
NR_157027.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC022915, BC029586, DB204697, DC414358

Related

ENST00000521002.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

48710789..48735311 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011517589.2 → XP_011515891.1 calaxin isoform X1

See identical proteins and their annotated locations for XP_011515891.1

UniProtKB/Swiss-Prot

B4DSB4, E7EVN7, Q9HAE3

Conserved Domains (1) summary

cl25352
Location:48 → 170

EFh_PEF; The penta-EF hand (PEF) family
XM_005251303.2 → XP_005251360.1 calaxin isoform X1

See identical proteins and their annotated locations for XP_005251360.1

UniProtKB/Swiss-Prot

B4DSB4, E7EVN7, Q9HAE3

Conserved Domains (1) summary

cl25352
Location:48 → 170

EFh_PEF; The penta-EF hand (PEF) family
XM_011517591.3 → XP_011515893.1 calaxin isoform X2

See identical proteins and their annotated locations for XP_011515893.1

UniProtKB/TrEMBL

H0YC53

Conserved Domains (2) summary

cd00051
Location:9 → 68

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13499
Location:40 → 113

EF-hand_7; EF-hand domain pair
XM_047422231.1 → XP_047278187.1 calaxin isoform X2

UniProtKB/TrEMBL

H0YC53
XM_017013827.2 → XP_016869316.1 calaxin isoform X2

UniProtKB/TrEMBL

H0YC53

Conserved Domains (2) summary

cd00051
Location:9 → 68

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13499
Location:40 → 113

EF-hand_7; EF-hand domain pair
XM_017013828.2 → XP_016869317.1 calaxin isoform X3