Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
257629
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat and sterile alpha motif domain containing 4B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANKS4B
Synonyms (NCBI Gene) Gene synonyms aliases
HARP
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019069 hsa-miR-335-5p Microarray 18185580
MIRT694958 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT694957 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT694956 hsa-miR-17-5p HITS-CLIP 23313552
MIRT694955 hsa-miR-20a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24947832, 26812018, 29513927, 32296183
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane ISS
GO:0005886 Component Plasma membrane IEA
GO:0005902 Component Microvillus IDA 26812018, 32209652
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609901 26795 ENSG00000175311
Protein
UniProt ID Q8N8V4
Protein name Ankyrin repeat and SAM domain-containing protein 4B (Harmonin-interacting ankyrin repeat-containing protein) (Harp)
Protein function As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex (PubMed:26812018). May play a role in cellular
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 38 127 Ankyrin repeats (3 copies) Repeat
PF00536 SAM_1 347 403 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney and small intestine. {ECO:0000269|PubMed:12588794}.
Sequence
MSTRYHQAASDSYLELLKEATKRDLNLSDEDGMTPTLLAAYHGNLEALEIICSRGGDPDR
CDIWGNTPLHFAASNGHAHCVSFLVNFGANIFALDNDLQTPLDAAASREQNECVALLDKA
ATAQNIM
NPKKVTRLKEQAQKNARRQIKECERLQEKHQNKMAHTYSKEESGTLSSSKGTF
SRSSPSNASAPGTFGSLSKGIKDTFKIKFKKNKDTAEQVGKEGRSGQRNVMEVFREEEED
SFSGDFKEKLQLSAEEDGSVHHESILNRPGLGSIVFRRNRISSPEDISDSKREFGFKLPS
ELLQRQGASEADEGAADEEGEENGLKDDLPWDDDEVEWEEDVVDATPLEVFLLSQHLEEF
LPIFKREQIDLEALLLCSDEDLQSIQMQLGPRKKVLNAINRRK
QVLQQPGQLVDTSL
Sequence length 417
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Pelvic Organ Prolapse Pelvic organ prolapse N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ovarian Diseases Associate 31646556