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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56243
Gene name Gene Name - the full gene name approved by the HGNC.	KIAA1217
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KIAA1217
Synonyms (NCBI Gene) Gene synonyms aliases	ETL4, SKT
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p12.2-p12.1

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(6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0030234	Function	Enzyme regulator activity	IBA	21873635
GO:0048706	Process	Embryonic skeletal system development	ISS
GO:0050790	Process	Regulation of catalytic activity	IEA

MIM	HGNC	e!Ensembl
617367	25428	ENSG00000120549

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778

Show/Hide Unknown Diseases (8)

Disease term	Disease name	Evidence	Source
Unknown
Frontal Fibrosing Alopecia	Frontal Fibrosing Alopecia		GWAS
Strabismus	Strabismus		GWAS
Schizophrenia	Schizophrenia		GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Dementia	Dementia		GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GWAS, CBGDA
Ischemic Stroke	Ischemic Stroke		GWAS
Myocardial Infarction	Myocardial Infarction		GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	26856603
Carcinoma Hepatocellular	Associate	22326833
Carcinoma Intraductal Noninfiltrating	Associate	31162284
Intervertebral Disc Degeneration	Associate	22107760
Intervertebral disc disease	Associate	19338451
Neoplasm Invasiveness	Associate	31162284
Obesity	Associate	37800791
Urinary Bladder Neoplasms	Associate	37800791

KIAA1217 (KIAA1217)