Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	56243
Gene name	KIAA1217
Gene symbol	KIAA1217
Synonyms (NCBI Gene)	ETL4SKT
Chromosome	10
Chromosome location	10p12.2-p12.1

102

Show/Hide all (102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018308	hsa-miR-335-5p	Microarray	18185580
MIRT022805	hsa-miR-124-3p	Microarray	18668037
MIRT454259	hsa-miR-6507-3p	PAR-CLIP	23592263
MIRT454258	hsa-miR-4286	PAR-CLIP	23592263
MIRT454259	hsa-miR-6507-3p	PAR-CLIP	23592263
MIRT454258	hsa-miR-4286	PAR-CLIP	23592263
MIRT1089374	hsa-miR-124	CLIP-seq
MIRT1089375	hsa-miR-1252	CLIP-seq
MIRT1089376	hsa-miR-3148	CLIP-seq
MIRT1089377	hsa-miR-4476	CLIP-seq
MIRT1089378	hsa-miR-4533	CLIP-seq
MIRT1089379	hsa-miR-506	CLIP-seq
MIRT1089380	hsa-miR-105	CLIP-seq
MIRT1089381	hsa-miR-1246	CLIP-seq
MIRT1089382	hsa-miR-1273e	CLIP-seq
MIRT1089383	hsa-miR-130a	CLIP-seq
MIRT1089384	hsa-miR-130b	CLIP-seq
MIRT1089385	hsa-miR-148a	CLIP-seq
MIRT1089386	hsa-miR-148b	CLIP-seq
MIRT1089387	hsa-miR-151-3p	CLIP-seq
MIRT1089388	hsa-miR-152	CLIP-seq
MIRT1089389	hsa-miR-1587	CLIP-seq
MIRT1089390	hsa-miR-2053	CLIP-seq
MIRT1089391	hsa-miR-301a	CLIP-seq
MIRT1089392	hsa-miR-301b	CLIP-seq
MIRT1089393	hsa-miR-3161	CLIP-seq
MIRT1089394	hsa-miR-329	CLIP-seq
MIRT1089395	hsa-miR-34a	CLIP-seq
MIRT1089396	hsa-miR-34c-5p	CLIP-seq
MIRT739678	hsa-miR-3613-3p	CLIP-seq
MIRT1089397	hsa-miR-3613-5p	CLIP-seq
MIRT1089398	hsa-miR-362-3p	CLIP-seq
MIRT1089399	hsa-miR-3666	CLIP-seq
MIRT1089400	hsa-miR-3671	CLIP-seq
MIRT1089401	hsa-miR-3674	CLIP-seq
MIRT1089402	hsa-miR-3941	CLIP-seq
MIRT1089403	hsa-miR-4281	CLIP-seq
MIRT1089404	hsa-miR-4295	CLIP-seq
MIRT1089405	hsa-miR-4453	CLIP-seq
MIRT1089406	hsa-miR-4463	CLIP-seq
MIRT1089407	hsa-miR-4464	CLIP-seq
MIRT1089408	hsa-miR-4499	CLIP-seq
MIRT1089409	hsa-miR-449a	CLIP-seq
MIRT1089410	hsa-miR-449b	CLIP-seq
MIRT739677	hsa-miR-4504	CLIP-seq
MIRT1089411	hsa-miR-4538	CLIP-seq
MIRT1089412	hsa-miR-454	CLIP-seq
MIRT1089413	hsa-miR-4674	CLIP-seq
MIRT1089414	hsa-miR-4727-5p	CLIP-seq
MIRT1089415	hsa-miR-4746-5p	CLIP-seq
MIRT1089416	hsa-miR-4748	CLIP-seq
MIRT1089417	hsa-miR-4773	CLIP-seq
MIRT1089418	hsa-miR-4775	CLIP-seq
MIRT1089419	hsa-miR-4789-5p	CLIP-seq
MIRT1089420	hsa-miR-4795-3p	CLIP-seq
MIRT1089421	hsa-miR-544	CLIP-seq
MIRT1089422	hsa-miR-548p	CLIP-seq
MIRT1089423	hsa-miR-569	CLIP-seq
MIRT1089424	hsa-miR-590-3p	CLIP-seq
MIRT1089425	hsa-miR-603	CLIP-seq
MIRT1089426	hsa-miR-607	CLIP-seq
MIRT1089427	hsa-miR-621	CLIP-seq
MIRT739679	hsa-miR-624	CLIP-seq
MIRT1089428	hsa-miR-635	CLIP-seq
MIRT1089429	hsa-miR-944	CLIP-seq
MIRT2023760	hsa-miR-3686	CLIP-seq
MIRT2254783	hsa-miR-2052	CLIP-seq
MIRT2254784	hsa-miR-3607-3p	CLIP-seq
MIRT739678	hsa-miR-3613-3p	CLIP-seq
MIRT2023760	hsa-miR-3686	CLIP-seq
MIRT2254785	hsa-miR-4307	CLIP-seq
MIRT2556966	hsa-miR-101	CLIP-seq
MIRT2556967	hsa-miR-1224-3p	CLIP-seq
MIRT2556968	hsa-miR-1260	CLIP-seq
MIRT2556969	hsa-miR-1260b	CLIP-seq
MIRT2556970	hsa-miR-1280	CLIP-seq
MIRT2556971	hsa-miR-144	CLIP-seq
MIRT2556972	hsa-miR-150	CLIP-seq
MIRT2556973	hsa-miR-194	CLIP-seq
MIRT2556974	hsa-miR-299-5p	CLIP-seq
MIRT2254784	hsa-miR-3607-3p	CLIP-seq
MIRT2556975	hsa-miR-3678-5p	CLIP-seq
MIRT2023760	hsa-miR-3686	CLIP-seq
MIRT2556976	hsa-miR-3924	CLIP-seq
MIRT2556977	hsa-miR-4643	CLIP-seq
MIRT2556978	hsa-miR-4652-3p	CLIP-seq
MIRT2556979	hsa-miR-4699-3p	CLIP-seq
MIRT2556980	hsa-miR-4713-5p	CLIP-seq
MIRT2556981	hsa-miR-4768-5p	CLIP-seq
MIRT2556982	hsa-miR-4796-5p	CLIP-seq
MIRT2556983	hsa-miR-4797-5p	CLIP-seq
MIRT2556984	hsa-miR-520d-5p	CLIP-seq
MIRT2556985	hsa-miR-524-5p	CLIP-seq
MIRT2556986	hsa-miR-532-3p	CLIP-seq
MIRT2556987	hsa-miR-561	CLIP-seq
MIRT2556988	hsa-miR-654-3p	CLIP-seq
MIRT2556966	hsa-miR-101	CLIP-seq
MIRT2556971	hsa-miR-144	CLIP-seq
MIRT2556976	hsa-miR-3924	CLIP-seq
MIRT2556979	hsa-miR-4699-3p	CLIP-seq
MIRT2556982	hsa-miR-4796-5p	CLIP-seq
MIRT2556988	hsa-miR-654-3p	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005813	Component	Centrosome	IDA	26638075
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0048706	Process	Embryonic skeletal system development	ISS

MIM	HGNC	e!Ensembl
617367	25428	ENSG00000120549

Q5T5P2

Protein name

Sickle tail protein homolog

Protein function

Required for normal development of intervertebral disks.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03915	AIP3	188 → 289	Actin interacting protein 3	Family

Sequence

MEENESQKCEPCLPYSADRRQMQEQGKGNLHVTSPEDAECRRTKERLSNGNSRGSVSKSS
RNIPRRHTLGGPRSSKEILGMQTSEMDRKREAFLEHLKQKYPHHASAIMGHQERLRDQTR
SPKLSHSPQPPSLGDPVEHLSETSADSLEAMSEGDAPTPFSRGSRTRASLPVVRSTNQTK
ERSLGVLYLQYGDETKQLRMPNEITSADTIRALFVSAFPQQLTMKMLESPSVAIYIKDES
RNVYYELNDVRNIQDRSLLKVYNKDPAHAFNHTPKTMNGDMRMQRELVYARGDGPGAPRP
GSTAHPPHAIPNSPPSTPVPHSMPPSPSRIPYGGTRSMVVPGNATIPRDRISSLPVSRPI
SPSPSAILERRDVKPDEDMSGKNIAMYRNEGFYADPYLYHEGRMSIASSHGGHPLDVPDH
IIAYHRTAIRSASAYCNPSMQAEMHMEQSLYRQKSRKYPDSHLPTLGSKTPPASPHRVSD
LRMIDMHAHYNAHGPPHTMQPDRASPSRQAFKKEPGTLVYIEKPRSAAGLSSLVDLGPPL
MEKQVFAYSTATIPKDRETRERMQAMEKQIASLTGLVQSALFKGPITSYSKDASSEKMMK
TTANRNHTDSAGTPHVSGGKMLSALESTVPPSQPPPVGTSAIHMSLLEMRRSVAELRLQL
QQMRQLQLQNQELLRAMMKKAELEISGKVMETMKRLEDPVQRQRVLVEQERQKYLHEEEK
IVKKLCELEDFVEDLKKDSTAASRLVTLKDVEDGAFLLRQVGEAVATLKGEFPTLQNKMR
AILRIEVEAVRFLKEEPHKLDSLLKRVRSMTDVLTMLRRHVTDGLLKGTDAAQAAQYMAM
EKATAAEVLKSQEEAAHTSGQPFHSTGAPGDAKSEVVPLSGMMVRHAQSSPVVIQPSQHS
VALLNPAQNLPHVASSPAVPQEATSTLQMSQAPQSPQIPMNGSAMQSLFIEEIHSVSAKN
RAVSIEKAEKKWEEKRQNLDHYNGKEFEKLLEEAQANIMKSIPNLEMPPATGPLPRGDAP
VDKVELSEDSPNSEQDLEKLGGKSPPPPPPPPRRSYLPGSGLTTTRSGDVVYTGRKENIT
AKASSEDAGPSPQTRATKYPAEEPASAWTPSPPPVTTSSSKDEEEEEEEGDKIMAELQAF
QKCSFMDVNSNSHAEPSRADSHVKDTRSGATVPPKEKKNLEFFHEDVRKSDVEYENGPQM
EFQKVTTGAVRPSDPPKWERGMENSISDASRTSEYKTEIIMKENSISNMSLLRDSRNYSQ
ETVPKASFGFSGISPLEDEINKGSKISGLQYSIPDTENQTLNYGKTKEMEKQNTDKCHVS
SHTRLTESSVHDFKTEDQEVITTDFGQVVLRPKEARHANVNPNEDGESSSSSPTEENAAT
DNIAFMITETTVQVLSSGEVHDIVSQKGEDIQTVNIDARKEMTPRQEGTDNEDPVVCLDK
KPVIIIFDEPMDIRSAYKRLSTIFEECDEELERMMMEEKIEEEEEEENGDSVVQNNNTSQ
MSHKKVAPGNLRTGQQVETKSQPHSLATETRNPGGQEMNRTELNKFSHVDSPNSECKGED
ATDDQFESPKKKFKFKFPKKQLAALTQAIRTGTKTGKKTLQVVVYEEEEEDGTLKQHKEA
KRFEIARSQPEDTPENTVRRQEQPSIESTSPISRTDEIRKNTYRTLDSLEQTIKQLENTI
SEMSPKALVDTSCSSNRDSVASSSHIAQEASPRPLLVPDEGPTALEPPTSIPSASRKGSS
GAPQTSRMPVPMSAKNRPGTLDKPGKQSKLQDPRQYRQANGSAKKSGGDFKPTSPSLPAS
KIPALSPSSGKSSSLPSSSGDSSNLPNPPATKPSIASNPLSPQTGPPAHSASLIPSVSNG
SLKFQSLTHTGKGHHLSFSPQSQNGRAPPPLSFSSSPPSPASSVSLNQGAKGTRTIHTPS
LTSYKAQNGSSSKATPSTAKETS

Sequence length

1943

Interactions

View interactions

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)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27150058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26856603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22326833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	31162284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	22107760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	22107760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	19338451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27150058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37800791	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	29559693		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37800791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KIAA1217 (KIAA1217)