Gene Gene information from NCBI Gene database.
Entrez ID 85458
Gene name DIX domain containing 1
Gene symbol DIXDC1
Synonyms (NCBI Gene)
CCD1
Chromosome 11
Chromosome location 11q23.1
Summary The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms.
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1419374563 C>G,T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant, stop gained, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
287
miRTarBase ID miRNA Experiments Reference
MIRT016151 hsa-miR-615-3p Sequencing 20371350
MIRT051092 hsa-miR-16-5p CLASH 23622248
MIRT438828 hsa-miR-582-5p qRT-PCR 23295946
MIRT438826 hsa-miR-582-3p qRT-PCR 23295946
MIRT438828 hsa-miR-582-5p qRT-PCR 23295946
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IEA
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 17043677, 20823832, 21189423, 31413325, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610493 23695 ENSG00000150764
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q155Q3
Protein name Dixin (Coiled-coil protein DIX1) (Coiled-coil-DIX1) (DIX domain-containing protein 1)
Protein function Positive effector of the Wnt signaling pathway; activates WNT3A signaling via DVL2. Regulates JNK activation by AXIN1 and DVL2.
PDB 3PZ7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 20 128 Calponin homology (CH) domain Domain
PF00778 DIX 599 678 DIX domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in cardiac and skeletal muscles. {ECO:0000269|PubMed:16814745}.
Sequence
MLACLTRGNLLDVLQEGFNEQQLQAYVAWVNAQLKKRPAVKPVQDLRQDLRDGVILAYLI
EIVAGEKLSGVQLSPGNQQEMKNNVEKVLQFVASKKIRMHQTSAKDIVDGNLKSIMRLVL
ALAAHFKP
GSSRTVNQGRDSRAPLQSHRPHCATAVAQGAAAALADVCHDMSRSGRDVFRY
RQRNSSMDEEIENPYWSVRALVQQYEGQQRSPSESSCSSLTSPSPIHSAKSESIITQSEE
KADFVIIPAEGIENRTEGTDSPLSRDWRPGSPGTYLETSWEEQLLEQQEYLEKEMEEAKK
MISGLQALLLNGSLPEDEQERPLALCEPGVNPEEQLIIIQSRLDQSMEENQDLKKELLKC
KQEARNLQGIKDALQQRLTQQDTSVLQLKQELLRANMDKDELHNQNVDLQRKLDERNRLL
GEYKKELGQKDRLLQQHQAKLEEALRKLSDVSYHQVDLERELEHKDVLLAHCMKREADEA
TNYNSHNSQSNGFLLPTAGKGATSVSNRGTSDLQLVRDALRSLRNSFSGHDPQHHTIDSL
EQGISSLMERLHVMETQKKQERKVRVKSPRTQVGSEYRESWPPNSKLPHSQSSPTVSSTC
TKVLYFTDRSLTPFMVNIPKRLEEVTLKDFKAAIDREGNHRYHFKALDPEFGTVKEEIFH
DDDAIPGWEGKIVAWVEE
DHGEN
Sequence length 683
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Obesity Likely pathogenic rs1419374563 RCV000787972
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDERS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Disorders Anxiety Disorder CTD_human_DG 27752079
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic Anxiety Disorder CTD_human_DG 27752079
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 27752079
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism CTD_human_DG 27752079
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder CTD_human_DG 27752079
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Neoplasms Brain neoplasms Pubtator 22688887 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27468723 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 12792787
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 19572978
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 27817168 Associate
★☆☆☆☆
Found in Text Mining only