ODAD4 (outer dynein arm docking complex subunit 4)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 83538
Gene name Outer dynein arm docking complex subunit 4
Gene symbol ODAD4
Synonyms (NCBI Gene)
TTC25
Chromosome 17
Chromosome location 17q21.2
Summary This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CI
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs886037889 ->T Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IDA 27486780
GO:0003341 Process Cilium movement ISS
GO:0005515 Function Protein binding IPI 25416956, 27486780
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617095 25280 ENSG00000204815
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96NG3
Protein name Outer dynein arm-docking complex subunit 4 (Tetratricopeptide repeat protein 25) (TPR repeat protein 25)
Protein function Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Plays an essential role for the assembly of ODA-DC and for the docking of ODA in ciliary axoneme. {ECO:0000269
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17874 TPR_MalT 281 → 510 MalT-like TPR region Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the nasal mucosa (at protein level). {ECO:0000269|PubMed:27486780}.
Sequence 
MSDPEGETLRSTFPSYMAEGERLYLCGEFSKAAQSFSNALYLQDGDKNCLVARSKCFLKM
GDLERSLKDAEASLQSDPAFCKGILQKAETLYTMGDFEFALVFYHRGYKLRPDREFRVGI
QKAQEAINNSVGSPSSIKLENKGDLSFLSKQAENIKAQQKPQPMKHLLHPTKGEPKWKAS
LKSEKTVRQLLGELYVDKEYLEKLLLDEDLIKGTMKGGLTVEDLIMTGINYLDTHSNFWR
QQKPIYARERDRKLMQEKWLRDHKRRPSQTAHYILKSLEDIDMLLTSGSAEGSLQKAEKV
LKKVLEWNKEEVPNKDELVGNLYSCIGNAQIELGQMEAALQSHRKDLEIAKEYDLPDAKS
RALDNIGRVFARVGKFQQAIDTWEEKIPLAKTTLEKTWLFHEIGRCYLELDQAWQAQNYG
EKSQQCAEEEGDIEWQLNASVLVAQAQVKLRDFESAVNNFEKALERAKLVHNNEAQQAII
SALDDANKGIIRELRKTNYVENLKEKSEGEASLYEDRIITREKDMRRVRDEPEKVVKQWD
HSEDEKETDEDDEAFGEALQSPASGKQSVEAGKARSDLGAVAKGLSGELGTRSGETGRKL
LEAGRRESREIYRRPSGELEQRLSGEFSRQEPEELKKLSEVGRREPEELGKTQFGEIGET
KKTGNEMEKEYE
Sequence length 672
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Heterotaxy Pathogenic rs1303840855 RCV001732151
ODAD4-related disorder Likely pathogenic; Pathogenic rs1555637675, rs1555637830 RCV003404681
RCV003414453
Primary ciliary dyskinesia Likely pathogenic rs2544711824 RCV003448944
Primary ciliary dyskinesia 35 Likely pathogenic; Pathogenic rs868938106, rs886037888, rs886037889, rs782254368, rs781949585 RCV001783924
RCV000240603
RCV000240605
RCV003493248
RCV001078458
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs144272262 RCV005920575
Clear cell carcinoma of kidney Likely benign rs144272262 RCV005920576
Colon adenocarcinoma Likely benign rs144272262 RCV005920573
Gastric cancer Likely benign rs144272262 RCV005920578