Gene Gene information from NCBI Gene database.
Entrez ID 257629
Gene name Ankyrin repeat and sterile alpha motif domain containing 4B
Gene symbol ANKS4B
Synonyms (NCBI Gene)
HARP
Chromosome 16
Chromosome location 16p12.2
miRNA miRNA information provided by mirtarbase database.
459
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609901 26795 ENSG00000175311
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
PELVIC ORGAN PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Ovarian Diseases Associate 31646556
★☆☆☆☆
Found in Text Mining only