ANKRD24 (ankyrin repeat domain 24)

Gene

• Entrez ID: 170961
• Gene name: Ankyrin repeat domain 24
• Gene symbol: ANKRD24
• Synonyms (NCBI Gene): -
• Chromosome: 19
• Chromosome location: 19p13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054118	hsa-miR-25-3p	Microarray	22995316
MIRT494855	hsa-miR-6895-5p	PAR-CLIP	23708386
MIRT494854	hsa-miR-7160-3p	PAR-CLIP	23708386
MIRT494853	hsa-miR-4512	PAR-CLIP	23708386
MIRT494852	hsa-miR-4786-3p	PAR-CLIP	23708386
MIRT494851	hsa-miR-4480	PAR-CLIP	23708386
MIRT494850	hsa-miR-1254	PAR-CLIP	23708386
MIRT494849	hsa-miR-3116	PAR-CLIP	23708386
MIRT494848	hsa-miR-5191	PAR-CLIP	23708386
MIRT494847	hsa-miR-2861	PAR-CLIP	23708386
MIRT494846	hsa-miR-1296-5p	PAR-CLIP	23708386
MIRT494845	hsa-miR-7843-3p	PAR-CLIP	23708386
MIRT494855	hsa-miR-6895-5p	PAR-CLIP	23708386
MIRT494854	hsa-miR-7160-3p	PAR-CLIP	23708386
MIRT494853	hsa-miR-4512	PAR-CLIP	23708386
MIRT494852	hsa-miR-4786-3p	PAR-CLIP	23708386
MIRT494851	hsa-miR-4480	PAR-CLIP	23708386
MIRT494850	hsa-miR-1254	PAR-CLIP	23708386
MIRT494849	hsa-miR-3116	PAR-CLIP	23708386
MIRT494848	hsa-miR-5191	PAR-CLIP	23708386
MIRT494847	hsa-miR-2861	PAR-CLIP	23708386
MIRT494846	hsa-miR-1296-5p	PAR-CLIP	23708386
MIRT494845	hsa-miR-7843-3p	PAR-CLIP	23708386
MIRT783249	hsa-miR-1197	CLIP-seq
MIRT783250	hsa-miR-4491	CLIP-seq
MIRT783251	hsa-miR-4657	CLIP-seq
MIRT783252	hsa-miR-4764-5p	CLIP-seq
MIRT783253	hsa-miR-4782-5p	CLIP-seq
MIRT783254	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0016020	Component	Membrane	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	ISS

Other IDs

• MIM: 620234
• HGNC: 29424
• e!Ensembl: ENSG00000089847

Protein

• UniProt ID: Q8TF21
• Protein name: Ankyrin repeat domain-containing protein 24
• Protein function: Component of the stereocilia rootlet in hair cells of inner ear. Bridges the apical plasma membrane with the lower rootlet and maintains normal distribution of TRIOBP, thereby reinforcing stereocilia insertion points and organizing rootlets for
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	52 → 145	Ankyrin repeats (3 copies)	Repeat
  PF00023	Ank	213 → 245	Ankyrin repeat	Repeat

• Sequence:

  MKTLRARFKKTELRLSPTDLGSCPPCGPCPIPKPAARGRRQSQDWGKSDERLLQAVENND
  APRVAALIARKGLVPTKLDPEGKSAFHLAAMRGAASCLEVMIAHGSNVMSADGAGYNALH
  LAAKYGHPQCLKQLLQASCVVDVVDSSGWTALHHAAAGGCLSCSEVLCSFKAHLNPQDRS
  GATPLIIAAQMCHTDLCRLLLQQGAAANDQDLQGRTALMLACEGASPETVEVLLQGGAQP
  GITDALGQDAAHYGALAGDKLILHLLQEAAQRPSPPSALTEDDSGEASSQNSMSSHGKQG
  APKKRKAPPPPASIPMPDDRDAYEEIVRLRQERGRLLQKIRGLEQHKERRQQESPEASSL
  HILERQVQELQQLLVERQEEKESLGREVESLQSRLSLLENERENTSYDVTTLQDEEGELP
  DLPGAEVLLSRQLSPSAQEHLASLQEQVAVLTRQNQELMEKVQILENFEKDETQMEVEAL
  AEVIPLALYDSLRAEFDQLRRQHAEALQALRQQETREVPREEGAACGESEVAGATATKNG
  PTHMELNGSVAPETKVNGAETIDEEAAGDETMEARTMEAEATGAEATGAEATGAKVTETK
  PTGAEVREMETTEEEANMETKPTGAQATDTETTGVEAMGVEATKTKAEEAEMQAYGVGAG
  QAEPPVTGTTNMEATGSRATGMESTGVSATGVENPGVEATVPGISAGPILHPGAAEASEK
  LQVELETRIRGLEEALRQREREAAAELEAALGKCEAAEAEAGRLRERVREAEGSGASGGG
  GGDTTQLRAALEQAREDLRDRDSRLRELEAASACLDEARASRLLAEEEARGLRAELAQRE
  EARLEQSRELEVLREQLATARATGEQQRTAAAELGRARDAAEARVAELPAACEEARQGLA
  ELREASEALRQSVVPASEHRRLQEEALELRGRAASLEQEVVATGKEAARLRAELERERVC
  SVALSEHERIVGTLQANVAQLEGQLEELGRRHEKTSAEVFQVQREALFMKSERHAAEAQL
  ATAEQQLRGLRTEAERARQAQSRAQEALDKAKEKDKKITELSKEVFNLKEALKEQPAALA
  TPEVEALRDQVKDLQQQLQEAARDHSSVVALYRSHLLYAIQGQMDEDVQRILSQILQMQR
  LQAQGR

• Sequence length: 1146

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
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations