ANKRD30B (ankyrin repeat domain 30B)

Gene

• Entrez ID: 374860
• Gene name: Ankyrin repeat domain 30B
• Gene symbol: ANKRD30B
• Synonyms (NCBI Gene): NY-BR-1.1
• Chromosome: 18
• Chromosome location: 18p11.21

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT783486	hsa-miR-214	CLIP-seq
MIRT783487	hsa-miR-28-3p	CLIP-seq
MIRT783488	hsa-miR-3619-5p	CLIP-seq
MIRT783489	hsa-miR-4272	CLIP-seq
MIRT783490	hsa-miR-4291	CLIP-seq
MIRT783491	hsa-miR-4310	CLIP-seq
MIRT783492	hsa-miR-761	CLIP-seq
MIRT783493	hsa-miR-922	CLIP-seq
MIRT783486	hsa-miR-214	CLIP-seq
MIRT2474808	hsa-miR-3613-3p	CLIP-seq
MIRT783488	hsa-miR-3619-5p	CLIP-seq
MIRT783490	hsa-miR-4291	CLIP-seq
MIRT2474809	hsa-miR-4311	CLIP-seq
MIRT2474810	hsa-miR-4701-5p	CLIP-seq
MIRT2474811	hsa-miR-588	CLIP-seq
MIRT2474812	hsa-miR-663b	CLIP-seq
MIRT783492	hsa-miR-761	CLIP-seq
MIRT783493	hsa-miR-922	CLIP-seq
MIRT2474808	hsa-miR-3613-3p	CLIP-seq
MIRT2474809	hsa-miR-4311	CLIP-seq
MIRT2474810	hsa-miR-4701-5p	CLIP-seq
MIRT2474811	hsa-miR-588	CLIP-seq
MIRT2474812	hsa-miR-663b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005575	Component	Cellular_component	ND
GO:0008150	Process	Biological_process	ND

Other IDs

• MIM: 616565
• HGNC: 24165
• e!Ensembl: ENSG00000180777

Protein

• UniProt ID: Q9BXX2
• Protein name: Ankyrin repeat domain-containing protein 30B (Serologically defined breast cancer antigen NY-BR-1.1)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	42 → 136	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	143 → 235	Ankyrin repeats (3 copies)	Repeat
  PF14915	CCDC144C	1084 → 1373	CCDC144C protein coiled-coil region	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, breast and testis. {ECO:0000269|PubMed:11280766}.
• Sequence:

  MKRLLAAAGKGVRGPEPPNPFSERVYTEKDYGTIYFGDLGKIHTAASRGQVQKLEKMTVG
  KKPVNLNKRDMKKRTALHWACVNGHAEVVTFLVDRKCQLNVLDGEGRTPLMKALQCEREA
  CANILIDAGADLNYVDVYGNTALHYAVYSENLLMVATLLSYGAVIEVQNKASLTPLLLAI
  QKRSKQTVEFLLTKNANANAFNESKCTALMLAICEGSSEIVGMLLQQNVDVFAEDIHGIT
  AERYAAACGVNYIHQQLLEHIRKLPKNPQNTNPEGTSTGTPDEAAPLAERTPDTAESLLE
  KTPDEAARLVEGTSAKIQCLGKATSGKFEQSTEETPRKILRPTKETSEKFSWPAKERSRK
  ITWEEKETSVKTECVAGVTPNKTEVLEKGTSNMIACPTKETSTKASTNVDVSSVEPIFSL
  FGTRTIENSQCTKVEEDFNLATKIISKSAAQNYTCLPDATYQKDIKTINHKIEDQMFPSE
  SKREEDEEYSWDSGSLFESSAKTQVCIPESMYQKVMEINREVEELPEKPSAFKPAVEMQK
  TVPNKAFELKNEQTLRAAQMFPSESKQKDDEENSWDSESPCETVSQKDVYLPKATHQKEF
  DTLSGKLEESPVKDGLLKPTCGRKVSLPNKALELKDRETFKAESPDKDGLLKPTCGRKVS
  LPNKALELKDRETLKAESPDNDGLLKPTCGRKVSLPNKALELKDRETFKAAQMFPSESKQ
  KDDEENSWDFESFLETLLQNDVCLPKATHQKEFDTLSGKLEESPDKDGLLKPTCGMKISL
  PNKALELKDRETFKAEDVSSVESTFSLFGKPTTENSQSTKVEEDFNLTTKEGATKTVTGQ
  QERDIGIIERAPQDQTNKMPTSELGRKEDTKSTSDSEIISVSDTQNYECLPEATYQKEIK
  TTNGKIEESPEKPSHFEPATEMQNSVPNKGLEWKNKQTLRADSTTLSKILDALPSCERGR
  ELKKDNCEQITAKMEQTKNKFCVLQKELSEAKEIKSQLENQKAKWEQELCSVRLTLNQEE
  EKRRNVDILKEKIRPEEQLRKKLEVKQQLEQTLRIQDIELKSVTSNLNQVSHTHESENDL
  FHENCMLKKEIAMLKLEVATLKHQHQVKENKYFEDIKILQEKNAELQMTLKLKQKTVTKR
  ASQYREQLKVLTAENTMLTSKLKEKQDKEILETEIESHHPRLASALQDHDQSVTSRKNQE
  LAFHSAGDAPLQGIMNVDVSNTIYNNEVLHQPLYEAQRKSKSPKINLNYAGDDLRENALV
  SEHAQRDRCETQCQMKKAEHMYQNEQDNVDKHTEQQESLEQKLFQLESKNRWLRQQLVYA
  HKKVNKSKVTINIQFPEMKMQRHLNEKNEEVFNYGNHLKERIDQYEKEKAEREVSIKKYK
  YFSNFLKESGLG

• Sequence length: 1392

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Tooth agenesis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Williams Syndrome	Associate	32303053	★☆☆☆☆ Found in Text Mining only