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	57562
Gene name	Centrosomal protein 126
Gene symbol	CEP126
Synonyms (NCBI Gene)	KIAA1377
Chromosome	11
Chromosome location	11q22.1

Show/Hide all (95)

miRTarBase ID	miRNA	Experiments	Reference
MIRT742247	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT742247	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT742247	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT742454	hsa-miR-26a-1-3p	HITS-CLIP	27418678
MIRT742455	hsa-miR-26a-2-3p	HITS-CLIP	27418678
MIRT742245	hsa-miR-3119	HITS-CLIP	27418678
MIRT740856	hsa-miR-6878-3p	HITS-CLIP	27418678
MIRT740814	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT740815	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT740816	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT740817	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT740818	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT740819	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT740820	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT740821	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT740822	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT740823	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT740824	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT740825	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT740826	hsa-miR-302e	HITS-CLIP	23313552
MIRT740827	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT740828	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT740829	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT740830	hsa-miR-520b	HITS-CLIP	23313552
MIRT740831	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT740832	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT740833	hsa-miR-520e	HITS-CLIP	23313552
MIRT740834	hsa-miR-4438	HITS-CLIP	23313552
MIRT740835	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT740836	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT740837	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT740838	hsa-miR-520h	HITS-CLIP	23313552
MIRT740839	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT740840	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT740841	hsa-miR-212-5p	HITS-CLIP	23313552
MIRT740842	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT740843	hsa-miR-5186	HITS-CLIP	23313552
MIRT740844	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT740845	hsa-miR-4763-5p	HITS-CLIP	23313552
MIRT740846	hsa-miR-4312	HITS-CLIP	23313552
MIRT740847	hsa-miR-4663	HITS-CLIP	23313552
MIRT740848	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT740849	hsa-miR-8077	HITS-CLIP	23313552
MIRT740850	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT740851	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT740852	hsa-miR-5095	HITS-CLIP	23313552
MIRT740853	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT740854	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT740855	hsa-miR-6894-3p	HITS-CLIP	23313552
MIRT740856	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT740857	hsa-miR-1227-3p	HITS-CLIP	23313552
MIRT740858	hsa-miR-3149	HITS-CLIP	23313552
MIRT741756	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT741757	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT740840	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT741758	hsa-miR-325	HITS-CLIP	23824327
MIRT741759	hsa-miR-1976	HITS-CLIP	23824327
MIRT741760	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT741761	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT741762	hsa-miR-7975	HITS-CLIP	23824327
MIRT741756	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT741757	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT741758	hsa-miR-325	HITS-CLIP	23824327
MIRT741986	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT741759	hsa-miR-1976	HITS-CLIP	23824327
MIRT741762	hsa-miR-7975	HITS-CLIP	23824327
MIRT741987	hsa-miR-4279	HITS-CLIP	23824327
MIRT742244	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT742245	hsa-miR-3119	HITS-CLIP	23824327
MIRT742246	hsa-miR-4256	HITS-CLIP	23824327
MIRT740856	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT742247	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT742244	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT742245	hsa-miR-3119	HITS-CLIP	23824327
MIRT742246	hsa-miR-4256	HITS-CLIP	23824327
MIRT740856	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT742247	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT742244	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT742454	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT742455	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT742245	hsa-miR-3119	HITS-CLIP	23824327
MIRT742246	hsa-miR-4256	HITS-CLIP	23824327
MIRT740856	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT742454	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT742455	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT742245	hsa-miR-3119	HITS-CLIP	23824327
MIRT740856	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT742247	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT742244	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT742454	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT742455	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT742245	hsa-miR-3119	HITS-CLIP	23824327
MIRT742246	hsa-miR-4256	HITS-CLIP	23824327
MIRT740856	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT742247	hsa-miR-129-5p	HITS-CLIP	23824327

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15383276, 24867236
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	24867236
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007052	Process	Mitotic spindle organization	IEA
GO:0007052	Process	Mitotic spindle organization	IMP	24867236
GO:0030030	Process	Cell projection organization	IEA
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IDA	19799413
GO:0030496	Component	Midbody	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IBA
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IMP	24867236
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	24867236
GO:0097546	Component	Ciliary base	IBA
GO:0097546	Component	Ciliary base	IDA	24867236
GO:0097546	Component	Ciliary base	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
614634	29264	ENSG00000110318

Q9P2H0

Protein name

Centrosomal protein of 126 kDa

Protein function

Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15352	K1377	105 → 1081	Susceptibility to monomelic amyotrophy	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary. {ECO:0000269|PubMed:10718198}.

Sequence

MLAGRPGTRSAVGELGTESSDNLDRAPLGPRESGGHHRPGSYLDMKIHLEKNLEEERQIL
LQQQKICRNRARKYFVESNRRKKAFEEKRKEQEEKEHQIREQILQQRKQKFEEVTEKFQR
AHVPLSQRRKAVSRKPVPPLEEALKQIQESNLKSEVNLPFSRRPTINWRAIDSALPSALS
KNDHKHQKQLLSKINCEKEMNENMRATLATSKNVFQLKLEETQKLLEDQHLSNLQKFGDE
VNQITNSETLSSIDSLEATEHEEIYLTLNKEHSTSIQRNTISLKPANMQSTNLSCFDEDK
LAFSKTQHINNWLTNLDASNTQNVTAFSDILSKSNVLPSWEYFNSKEQNPSPLNGTVERA
TNTANNSVPFVSSPPMFVLDKKCEKTSETSTMRTTDSTSGAFKRERPLVTESPTFKFSKS
QSTSDSLTQEVATFPDQEKYSELNQENGTTSIPTSCVPVATPLVLPSNIQSARPSAKNSI
HIKEIDAVQCSDKLDELKDGKEEEIKYFNCNKEELPLFSDSFQDAYIPHNPDSKDEKQKL
AETSSLSNVTSNYDFVGQHKKMKYNIHERNGVRFLKSILKKESKYEHGYLKALIINQSFK
FGNQKAAAIRDSIELTKEKGAEIPKTIKKLRWFDETSNIENNAENSHSLKNKTGTTQQHS
QQFHIQSGAGSNIISVSTCAVNSADTKKSREDSISENVTTLGGSGADHMPLNCFIPSGYN
FAKHAWPASKKEESKIPVHDDSKTKQGKPQRGRAKIIRKPGSAKVQSGFICTNRKGAVIQ
PQSASKVNIFTQAQGKLIIPCPPPQSTSNIRSGKNIQVSQCQPVTPENPQNIITHNSFNS
KHVLPTEHSLNQWNQESSSPLSNACSDLVTVIPSLPSYCSSECQTFAKINHSNGTQAVAR
QDATLYCTQRSPVCEESYPSVTLRTAEEESVPLWKRGPNVLHQNKRATGSTVMRRKRIAE
TKRRNILEQKRQNPGSVGQKYSEQINNFGQSVLLSSSEPKQTTRGTSYIEEVSDSTSEFL
MAENLVKASVPEDEILTVLNSKQIQKSNLPLNKTQQFNICTLSAEEQKILESLNDLSERL
HYIQESICKNPSIKNTLQIIPLLEKREDRTSSCRDKR

Sequence length

1117

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 (2)

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.
AMYOTROPHY, MONOMELIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CEP126 (centrosomal protein 126)