ANKS3 (ankyrin repeat and sterile alpha motif domain containing 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
124401
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat and sterile alpha motif domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANKS3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1567280099 ->G Pathogenic Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT022874 hsa-miR-124-3p Microarray 18668037
MIRT2172079 hsa-miR-3127-5p CLIP-seq
MIRT2172080 hsa-miR-3619-3p CLIP-seq
MIRT2172081 hsa-miR-4705 CLIP-seq
MIRT2172082 hsa-miR-4776-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24998259, 26188091
GO:0005737 Component Cytoplasm ISS
GO:0005929 Component Cilium IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617310 29422 ENSG00000168096
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6ZW76
Protein name Ankyrin repeat and SAM domain-containing protein 3
Protein function May be involved in vasopressin signaling in the kidney.
PDB 4NJ8 , 4NL9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 39 → 132 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 131 → 199 Ankyrin repeats (3 copies) Repeat
PF13637 Ank_4 135 → 189 Repeat
PF00536 SAM_1 424 → 486 SAM domain (Sterile alpha motif) Domain
Sequence 
MSELSDEASEPELLNRSLSMWHGLGTQVSGEELDVPLDLHTAASIGQYEVVKECVQRREL
DLNKKNGGGWTPLMYASYIGHDTIVHLLLEAGVSVNVPTPEGQTPLMLASSCGNESIAYF
LLQQGAELEMKDIQGWTALFHCTSAGHQHMVRFLLDSGANANVREPICGFTPLMEAAAAG
HEIIVQYFLNHGVKVDARDHSGATARMLAKQYGHMKIVALMDTYSPSLPKSLYRSPEKYE
DLSSSDESCPAPQRQRPCRKKGVSIHEGPRALARITGIGLGGRAPRPRYEQAPPRGYVTF
NSSGENPLEEEGLCCRDVTSPINERDVESSSSSSSREEHAFCANLGPVQSSSSSEGLARA
QGLSSEASVESNEDSDHACKSSARKQAKSYMKTKNPDSQWPPRAATDREGFLAESSPQTQ
RAPYSGPQDLAALLEQIGCLKYLQVFEEQDVDLRIFLTLTESDLKEIGITLFGPKRKMTS
AIARWHSSARPPGDALELAYADRLEAEMQELAIQLHKRCEEVEATRGQVCQEQELRAVVE
SCLLEQDRAREDLQARLRETWALARDAALVLDQLRACQAELSSRVRQDQPPGAATLGLAV
PPADSKGWQASLQAMSLPELSGALEDRVREMGQALCLVTQSLEKLQVLNGKKWRET
Sequence length 656
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Situs inversus Situs Inversus rs528302390, rs1596264554 27417436
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Situs Inversus situs inversus GenCC
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Nephronophthisis familial juvenile Associate 32994509