CEP112 (centrosomal protein 112)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 201134
Gene name Centrosomal protein 112
Gene symbol CEP112
Synonyms (NCBI Gene)
CCDC46MACOCOSPGF44
Chromosome 17
Chromosome location 17q24.1
Summary This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the
miRNA miRNA information provided by mirtarbase database.
12
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
miRTarBase ID miRNA Experiments Reference
MIRT043260 hsa-miR-331-3p CLASH 23622248
MIRT885556 hsa-miR-1 CLIP-seq
MIRT885557 hsa-miR-206 CLIP-seq
MIRT885558 hsa-miR-3610 CLIP-seq
MIRT885559 hsa-miR-613 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 36931259
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 21399614
GO:0005813 Component Centrosome IEA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618980 28514 ENSG00000154240
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N8E3
Protein name Centrosomal protein of 112 kDa (Cep112) (Coiled-coil domain-containing protein 46)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14846 DUF4485 13 → 98 Domain of unknown function (DUF4485) Family
Sequence 
MEVGSEEEKWEKLDAEFDHFVVDMKPFVLKLPHRTERQRCALWIRKLCEPSGTGAGIMGR
KNRNLYAKLLLHMLKRGALEGPFTHRPEPGTLKILPSYMSIYFDEPNPARAKGSSPEGLP
AWVLGELETSEHKLNESWKLSSGEDNTLVQSPTDVYSREQYTGKLRVRSHSLSPTHREDG
QNITPKICEVYSKKSPVSLDDSDIEARLNSWNLGIENPRYLRQKPIPVSLMTPKFSLRKS
SSFHDDHFLSRIREKELDMKTKMMEAKFHEEKLKLQQKHDADVQKILERKNNEIEELKTL
YRSKQHETEETIRKLEKKVQTLIRDCQVIRETKEDQIAELKKICEQSTESLNNDWEKKLH
NAVAEMEQEKFDLQKQHTENIQELLEDTNVRLNKMESEYMAQTQSTNHMIKELEARVQQL
TGEAENSNLQRQKLIQEKAELERCYQITCSELQEVKARRNTLHKEKDHLVNDYEQNMKLL
QTKYDADINLLKQEHALSASKASSMIEELEQNVCQLKQQLQESELQRKQQLRDQENKFQM
EKSHLKHIYEKKAHDLQSELDKGKEDTQKKIHKFEEALKEKEEQLTRVTEVQRLQAQQAD
AALEEFKRQVELNSEKVYAEMKEQMEKVEADLTRSKSLREKQSKEFLWQLEDIRQRYEQQ
IVELKLEHEQEKTHLLQQHNAEKDSLVRDHEREIENLEKQLRAANMEHENQIQEFKKRDA
QVIADMEAQVHKLREELINVNSQRKQQLVELGLLREEEKQRATREHEIVVNKLKAESEKM
KIELKKTHAAETEMTLEKANSKLKQIEKEYTQKLAKSSQIIAELQTTISSLKEENSQQQL
AAERRLQDVRQKFEDEKKQLIRDNDQAIKVLQDELENRSNQVRCAEKKLQHKELESQEQI
TYIRQEYETKLKGLMPASLRQELEDTISSLKSQVNFLQKRASILQEELTTYQGRR
Sequence length 955
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spermatogenic failure 44 Pathogenic rs143892062, rs780421901 RCV001260968
RCV001260970
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CEP112-related disorder Likely benign rs144307988 RCV003959086
Clear cell carcinoma of kidney Benign rs75033823 RCV005911796
Malignant tumor of esophagus Benign rs75033823 RCV005911795
Sarcoma Benign rs75033823 RCV005911797
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Glioma Associate 36552760
Keratoconus Associate 37965330
Neoplasm Metastasis Associate 34108011
Neoplasms Associate 34108011