CCDC120 (coiled-coil domain containing 120)

Gene

• Entrez ID: 90060
• Gene name: Coiled-coil domain containing 120
• Gene symbol: CCDC120
• Synonyms (NCBI Gene): JM11
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018616	hsa-miR-335-5p	Microarray	18185580
MIRT704952	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT704951	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT704950	hsa-miR-940	HITS-CLIP	23313552
MIRT704949	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT704948	hsa-miR-4459	HITS-CLIP	23313552
MIRT704947	hsa-miR-665	HITS-CLIP	23313552
MIRT704946	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT704945	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT704944	hsa-miR-589-5p	HITS-CLIP	23313552
MIRT704943	hsa-miR-1827	HITS-CLIP	23313552
MIRT704942	hsa-miR-6804-5p	HITS-CLIP	23313552
MIRT704941	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT704940	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT704939	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT704938	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT704937	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT704936	hsa-miR-4710	HITS-CLIP	23313552
MIRT704935	hsa-miR-4316	HITS-CLIP	23313552
MIRT704934	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT704952	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT704951	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT704950	hsa-miR-940	HITS-CLIP	23313552
MIRT704949	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT704948	hsa-miR-4459	HITS-CLIP	23313552
MIRT704947	hsa-miR-665	HITS-CLIP	23313552
MIRT704946	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT704945	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT704944	hsa-miR-589-5p	HITS-CLIP	23313552
MIRT704943	hsa-miR-1827	HITS-CLIP	23313552
MIRT704942	hsa-miR-6804-5p	HITS-CLIP	23313552
MIRT704941	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT704940	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT704939	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT704938	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT704937	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT704936	hsa-miR-4710	HITS-CLIP	23313552
MIRT704935	hsa-miR-4316	HITS-CLIP	23313552
MIRT704934	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT867708	hsa-miR-1252	CLIP-seq
MIRT867709	hsa-miR-145	CLIP-seq
MIRT867710	hsa-miR-1825	CLIP-seq
MIRT867711	hsa-miR-1972	CLIP-seq
MIRT867712	hsa-miR-198	CLIP-seq
MIRT867713	hsa-miR-199a-5p	CLIP-seq
MIRT867714	hsa-miR-199b-5p	CLIP-seq
MIRT867715	hsa-miR-2467-3p	CLIP-seq
MIRT867716	hsa-miR-300	CLIP-seq
MIRT867717	hsa-miR-3074-3p	CLIP-seq
MIRT867718	hsa-miR-3127-3p	CLIP-seq
MIRT867719	hsa-miR-3154	CLIP-seq
MIRT867720	hsa-miR-3160-3p	CLIP-seq
MIRT867721	hsa-miR-3163	CLIP-seq
MIRT867722	hsa-miR-3170	CLIP-seq
MIRT867723	hsa-miR-3179	CLIP-seq
MIRT867724	hsa-miR-3190	CLIP-seq
MIRT867725	hsa-miR-3195	CLIP-seq
MIRT867726	hsa-miR-3202	CLIP-seq
MIRT867727	hsa-miR-3612	CLIP-seq
MIRT867728	hsa-miR-361-5p	CLIP-seq
MIRT867729	hsa-miR-3620	CLIP-seq
MIRT867730	hsa-miR-3673	CLIP-seq
MIRT867731	hsa-miR-3677-5p	CLIP-seq
MIRT867732	hsa-miR-381	CLIP-seq
MIRT867733	hsa-miR-3913-3p	CLIP-seq
MIRT867734	hsa-miR-3922-5p	CLIP-seq
MIRT867735	hsa-miR-4257	CLIP-seq
MIRT867736	hsa-miR-4269	CLIP-seq
MIRT867737	hsa-miR-4299	CLIP-seq
MIRT867738	hsa-miR-4302	CLIP-seq
MIRT867739	hsa-miR-431	CLIP-seq
MIRT867740	hsa-miR-4432	CLIP-seq
MIRT867741	hsa-miR-4436a	CLIP-seq
MIRT867742	hsa-miR-4475	CLIP-seq
MIRT867743	hsa-miR-4476	CLIP-seq
MIRT867744	hsa-miR-4481	CLIP-seq
MIRT867745	hsa-miR-4487	CLIP-seq
MIRT867746	hsa-miR-451b	CLIP-seq
MIRT867747	hsa-miR-4533	CLIP-seq
MIRT867748	hsa-miR-4666-3p	CLIP-seq
MIRT867749	hsa-miR-4694-3p	CLIP-seq
MIRT867750	hsa-miR-4695-5p	CLIP-seq
MIRT867751	hsa-miR-4696	CLIP-seq
MIRT867752	hsa-miR-4700-3p	CLIP-seq
MIRT867753	hsa-miR-4745-5p	CLIP-seq
MIRT867754	hsa-miR-4758-5p	CLIP-seq
MIRT867755	hsa-miR-4774-5p	CLIP-seq
MIRT867756	hsa-miR-4789-5p	CLIP-seq
MIRT867757	hsa-miR-4792	CLIP-seq
MIRT867758	hsa-miR-4793-3p	CLIP-seq
MIRT867759	hsa-miR-4802-5p	CLIP-seq
MIRT867760	hsa-miR-4803	CLIP-seq
MIRT867761	hsa-miR-4804-3p	CLIP-seq
MIRT867762	hsa-miR-489	CLIP-seq
MIRT867763	hsa-miR-508-5p	CLIP-seq
MIRT867764	hsa-miR-522	CLIP-seq
MIRT867765	hsa-miR-542-3p	CLIP-seq
MIRT867766	hsa-miR-555	CLIP-seq
MIRT867767	hsa-miR-558	CLIP-seq
MIRT867768	hsa-miR-589	CLIP-seq
MIRT867769	hsa-miR-605	CLIP-seq
MIRT867770	hsa-miR-614	CLIP-seq
MIRT867771	hsa-miR-615-5p	CLIP-seq
MIRT867772	hsa-miR-635	CLIP-seq
MIRT867773	hsa-miR-650	CLIP-seq
MIRT867774	hsa-miR-765	CLIP-seq
MIRT867775	hsa-miR-766	CLIP-seq
MIRT867729	hsa-miR-3620	CLIP-seq
MIRT867734	hsa-miR-3922-5p	CLIP-seq
MIRT867729	hsa-miR-3620	CLIP-seq
MIRT867734	hsa-miR-3922-5p	CLIP-seq
MIRT867729	hsa-miR-3620	CLIP-seq
MIRT867734	hsa-miR-3922-5p	CLIP-seq
MIRT1957489	hsa-miR-1207-3p	CLIP-seq
MIRT867709	hsa-miR-145	CLIP-seq
MIRT867710	hsa-miR-1825	CLIP-seq
MIRT867712	hsa-miR-198	CLIP-seq
MIRT867713	hsa-miR-199a-5p	CLIP-seq
MIRT867714	hsa-miR-199b-5p	CLIP-seq
MIRT867715	hsa-miR-2467-3p	CLIP-seq
MIRT1957490	hsa-miR-3147	CLIP-seq
MIRT1957491	hsa-miR-3155	CLIP-seq
MIRT1957492	hsa-miR-3155b	CLIP-seq
MIRT867721	hsa-miR-3163	CLIP-seq
MIRT1957493	hsa-miR-3169	CLIP-seq
MIRT867723	hsa-miR-3179	CLIP-seq
MIRT867727	hsa-miR-3612	CLIP-seq
MIRT867729	hsa-miR-3620	CLIP-seq
MIRT1957494	hsa-miR-3918	CLIP-seq
MIRT867734	hsa-miR-3922-5p	CLIP-seq
MIRT867735	hsa-miR-4257	CLIP-seq
MIRT867736	hsa-miR-4269	CLIP-seq
MIRT867738	hsa-miR-4302	CLIP-seq
MIRT867739	hsa-miR-431	CLIP-seq
MIRT867741	hsa-miR-4436a	CLIP-seq
MIRT1957495	hsa-miR-4443	CLIP-seq
MIRT1957496	hsa-miR-4642	CLIP-seq
MIRT867750	hsa-miR-4695-5p	CLIP-seq
MIRT1957497	hsa-miR-4699-5p	CLIP-seq
MIRT867752	hsa-miR-4700-3p	CLIP-seq
MIRT1957498	hsa-miR-4740-5p	CLIP-seq
MIRT867755	hsa-miR-4774-5p	CLIP-seq
MIRT867760	hsa-miR-4803	CLIP-seq
MIRT867761	hsa-miR-4804-3p	CLIP-seq
MIRT1957499	hsa-miR-484	CLIP-seq
MIRT867766	hsa-miR-555	CLIP-seq
MIRT1957500	hsa-miR-583	CLIP-seq
MIRT867768	hsa-miR-589	CLIP-seq
MIRT867770	hsa-miR-614	CLIP-seq
MIRT867772	hsa-miR-635	CLIP-seq
MIRT1957501	hsa-miR-637	CLIP-seq
MIRT867773	hsa-miR-650	CLIP-seq
MIRT1957502	hsa-miR-767-3p	CLIP-seq
MIRT2194481	hsa-miR-1185	CLIP-seq
MIRT1957489	hsa-miR-1207-3p	CLIP-seq
MIRT2194482	hsa-miR-125a-5p	CLIP-seq
MIRT2194483	hsa-miR-125b	CLIP-seq
MIRT2194484	hsa-miR-1293	CLIP-seq
MIRT2194485	hsa-miR-147	CLIP-seq
MIRT2194486	hsa-miR-1587	CLIP-seq
MIRT2194487	hsa-miR-186	CLIP-seq
MIRT867712	hsa-miR-198	CLIP-seq
MIRT2194488	hsa-miR-24	CLIP-seq
MIRT867715	hsa-miR-2467-3p	CLIP-seq
MIRT2194489	hsa-miR-2964a-3p	CLIP-seq
MIRT2194490	hsa-miR-302f	CLIP-seq
MIRT2194491	hsa-miR-30a	CLIP-seq
MIRT2194492	hsa-miR-30b	CLIP-seq
MIRT2194493	hsa-miR-30c	CLIP-seq
MIRT2194494	hsa-miR-30d	CLIP-seq
MIRT2194495	hsa-miR-30e	CLIP-seq
MIRT2194496	hsa-miR-3122	CLIP-seq
MIRT2194497	hsa-miR-3127-5p	CLIP-seq
MIRT2194498	hsa-miR-3133	CLIP-seq
MIRT1957490	hsa-miR-3147	CLIP-seq
MIRT2194499	hsa-miR-3157-5p	CLIP-seq
MIRT2194500	hsa-miR-3161	CLIP-seq
MIRT867721	hsa-miR-3163	CLIP-seq
MIRT2194501	hsa-miR-3165	CLIP-seq
MIRT2194502	hsa-miR-3167	CLIP-seq
MIRT867722	hsa-miR-3170	CLIP-seq
MIRT867723	hsa-miR-3179	CLIP-seq
MIRT867725	hsa-miR-3195	CLIP-seq
MIRT867726	hsa-miR-3202	CLIP-seq
MIRT2194503	hsa-miR-323-5p	CLIP-seq
MIRT2194504	hsa-miR-335	CLIP-seq
MIRT2194505	hsa-miR-3605-5p	CLIP-seq
MIRT2194506	hsa-miR-3607-3p	CLIP-seq
MIRT867727	hsa-miR-3612	CLIP-seq
MIRT867729	hsa-miR-3620	CLIP-seq
MIRT2194507	hsa-miR-3679-5p	CLIP-seq
MIRT2194508	hsa-miR-3689a-3p	CLIP-seq
MIRT2194509	hsa-miR-3689c	CLIP-seq
MIRT2194510	hsa-miR-3911	CLIP-seq
MIRT867733	hsa-miR-3913-3p	CLIP-seq
MIRT2194511	hsa-miR-3913-5p	CLIP-seq
MIRT1957494	hsa-miR-3918	CLIP-seq
MIRT867734	hsa-miR-3922-5p	CLIP-seq
MIRT2194512	hsa-miR-3926	CLIP-seq
MIRT2194513	hsa-miR-4260	CLIP-seq
MIRT867736	hsa-miR-4269	CLIP-seq
MIRT2194514	hsa-miR-4283	CLIP-seq
MIRT2194515	hsa-miR-4284	CLIP-seq
MIRT867737	hsa-miR-4299	CLIP-seq
MIRT867739	hsa-miR-431	CLIP-seq
MIRT2194516	hsa-miR-4319	CLIP-seq
MIRT2194517	hsa-miR-4420	CLIP-seq
MIRT867740	hsa-miR-4432	CLIP-seq
MIRT2194518	hsa-miR-4436b-3p	CLIP-seq
MIRT2194519	hsa-miR-4437	CLIP-seq
MIRT1957495	hsa-miR-4443	CLIP-seq
MIRT867743	hsa-miR-4476	CLIP-seq
MIRT2194520	hsa-miR-4483	CLIP-seq
MIRT2194521	hsa-miR-4489	CLIP-seq
MIRT2194522	hsa-miR-4492	CLIP-seq
MIRT2194523	hsa-miR-4498	CLIP-seq
MIRT2194524	hsa-miR-4503	CLIP-seq
MIRT2194525	hsa-miR-4505	CLIP-seq
MIRT2194526	hsa-miR-4514	CLIP-seq
MIRT867746	hsa-miR-451b	CLIP-seq
MIRT1957496	hsa-miR-4642	CLIP-seq
MIRT2194527	hsa-miR-4651	CLIP-seq
MIRT2194528	hsa-miR-4674	CLIP-seq
MIRT2194529	hsa-miR-4692	CLIP-seq
MIRT867749	hsa-miR-4694-3p	CLIP-seq
MIRT867751	hsa-miR-4696	CLIP-seq
MIRT2194530	hsa-miR-4720-3p	CLIP-seq
MIRT2194531	hsa-miR-4720-5p	CLIP-seq
MIRT2194532	hsa-miR-4742-5p	CLIP-seq
MIRT867755	hsa-miR-4774-5p	CLIP-seq
MIRT867758	hsa-miR-4793-3p	CLIP-seq
MIRT2194533	hsa-miR-4796-3p	CLIP-seq
MIRT2194534	hsa-miR-4799-3p	CLIP-seq
MIRT867759	hsa-miR-4802-5p	CLIP-seq
MIRT867761	hsa-miR-4804-3p	CLIP-seq
MIRT867762	hsa-miR-489	CLIP-seq
MIRT867763	hsa-miR-508-5p	CLIP-seq
MIRT867765	hsa-miR-542-3p	CLIP-seq
MIRT2194535	hsa-miR-544b	CLIP-seq
MIRT2194536	hsa-miR-548s	CLIP-seq
MIRT2194537	hsa-miR-548t	CLIP-seq
MIRT2194538	hsa-miR-550a	CLIP-seq
MIRT2194539	hsa-miR-581	CLIP-seq
MIRT2194540	hsa-miR-608	CLIP-seq
MIRT867770	hsa-miR-614	CLIP-seq
MIRT867771	hsa-miR-615-5p	CLIP-seq
MIRT2194541	hsa-miR-629	CLIP-seq
MIRT867772	hsa-miR-635	CLIP-seq
MIRT1957501	hsa-miR-637	CLIP-seq
MIRT2194542	hsa-miR-644	CLIP-seq
MIRT867773	hsa-miR-650	CLIP-seq
MIRT2194543	hsa-miR-762	CLIP-seq
MIRT867774	hsa-miR-765	CLIP-seq
MIRT867775	hsa-miR-766	CLIP-seq
MIRT2194544	hsa-miR-876-5p	CLIP-seq
MIRT867729	hsa-miR-3620	CLIP-seq
MIRT867734	hsa-miR-3922-5p	CLIP-seq
MIRT867740	hsa-miR-4432	CLIP-seq
MIRT867746	hsa-miR-451b	CLIP-seq
MIRT867751	hsa-miR-4696	CLIP-seq
MIRT2385607	hsa-miR-516a-5p	CLIP-seq
MIRT867765	hsa-miR-542-3p	CLIP-seq
MIRT2446373	hsa-miR-1253	CLIP-seq
MIRT2446374	hsa-miR-128	CLIP-seq
MIRT2446375	hsa-miR-2355-5p	CLIP-seq
MIRT2194496	hsa-miR-3122	CLIP-seq
MIRT2446376	hsa-miR-3185	CLIP-seq
MIRT2194508	hsa-miR-3689a-3p	CLIP-seq
MIRT2194509	hsa-miR-3689c	CLIP-seq
MIRT2194511	hsa-miR-3913-5p	CLIP-seq
MIRT867738	hsa-miR-4302	CLIP-seq
MIRT2446373	hsa-miR-1253	CLIP-seq
MIRT2446374	hsa-miR-128	CLIP-seq
MIRT2446375	hsa-miR-2355-5p	CLIP-seq
MIRT867738	hsa-miR-4302	CLIP-seq
MIRT867708	hsa-miR-1252	CLIP-seq
MIRT2446373	hsa-miR-1253	CLIP-seq
MIRT2446374	hsa-miR-128	CLIP-seq
MIRT2446375	hsa-miR-2355-5p	CLIP-seq
MIRT2194496	hsa-miR-3122	CLIP-seq
MIRT867724	hsa-miR-3190	CLIP-seq
MIRT867726	hsa-miR-3202	CLIP-seq
MIRT2194504	hsa-miR-335	CLIP-seq
MIRT2677484	hsa-miR-3622b-5p	CLIP-seq
MIRT2194508	hsa-miR-3689a-3p	CLIP-seq
MIRT2194509	hsa-miR-3689c	CLIP-seq
MIRT2194511	hsa-miR-3913-5p	CLIP-seq
MIRT2677485	hsa-miR-4253	CLIP-seq
MIRT867737	hsa-miR-4299	CLIP-seq
MIRT867738	hsa-miR-4302	CLIP-seq
MIRT867747	hsa-miR-4533	CLIP-seq
MIRT2677486	hsa-miR-4684-5p	CLIP-seq
MIRT867758	hsa-miR-4793-3p	CLIP-seq
MIRT867763	hsa-miR-508-5p	CLIP-seq
MIRT867765	hsa-miR-542-3p	CLIP-seq
MIRT2677487	hsa-miR-593	CLIP-seq
MIRT867775	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 28422092, 28514442, 29892012, 32296183, 32814053, 33961781, 35512704
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005814	Component	Centriole	IDA	28422092
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0008104	Process	Intracellular protein localization	IMP	28422092
GO:0030426	Component	Growth cone	IEA
GO:0034454	Process	Microtubule anchoring at centrosome	IGI	28422092
GO:0034454	Process	Microtubule anchoring at centrosome	IMP	28422092
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0120103	Component	Centriolar subdistal appendage	IDA	28422092

Other IDs

• MIM: 300947
• HGNC: 28910
• e!Ensembl: ENSG00000147144

Protein

• UniProt ID: Q96HB5
• Protein name: Coiled-coil domain-containing protein 120
• Protein function: Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical sub
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11819	CUPID	2 → 141	Cytohesin Ubiquitin Protein Inducing Domain	Domain

• Sequence:

  MEVKGQLISSPTFNAPAALFGEAAPQVKSERLRGLLDRQRTLQEALSLKLQELRKVCLQE
  AELTGQLPPECPLEPGERPQLVRRRPPTARAYPPPHPNQAHHSLCPAEELALEALEREVS
  VQQQIAAAARRLALAPDLSTEQRRRRRQVQADALRRLHELEEQLRDVRARLGLPVLPLPQ
  PLPLSTGSVITTQGVCLGMRLAQLSQEDVVLHSESSSLSESGASHDNEEPHGCFSLAERP
  SPPKAWDQLRAVSGGSPERRTPWKPPPSDLYGDLKSRRNSVASPTSPTRSLPRSASSFEG
  RSVPATPVLTRGAGPQLCKPEGLHSRQWSGSQDSQMGFPRADPASDRASLFVARTRRSNS
  SEALLVDRAAGGGAGSPPAPLAPSASGPPVCKSSEVLYERPQPTPAFSSRTAGPPDPPRA
  ARPSSAAPASRGAPRLPPVCGDFLLDYSLDRGLPRSGGGTGWGELPPAAEVPGPLSRRDG
  LLTMLPGPPPVYAADSNSPLLRTKDPHTRATRTKPCGLPPEAAEGPEVHPNPLLWMPPPT
  RIPSAGERSGHKNLALEGLRDWYIRNSGLAAGPQRRPVLPSVGPPHPPFLHARCYEVGQA
  LYGAPSQAPLPHSRSFTAPPVSGRYGGCFY

• Sequence length: 630

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
OSTEOPETROSIS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations