Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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85458 |
Gene nameGene Name - the full gene name approved by the HGNC.
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DIX domain containing 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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DIXDC1 |
SynonymsGene synonyms aliases
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CCD1 |
ChromosomeChromosome number
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11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q23.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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. |
SNPsSNP information provided by dbSNP.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
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 |
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Sequence |
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Sequence length |
683 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Autism |
Autistic Disorder |
rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 |
27752079 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
27752079 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anxiety disorder |
Anxiety Disorders, Anxiety States, Neurotic |
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27752079 |
Bipolar disorder |
Bipolar Disorder, Depression, Bipolar |
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27752079 |
Manic disorder |
Manic, Manic Disorder |
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27752079 |
Melancholia |
Melancholia |
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27752079 |
Mental depression |
Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic |
rs587778876, rs587778877 |
27752079 |
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