GediPNet logo

CEP112 (centrosomal protein 112)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
201134
Gene nameGene Name - the full gene name approved by the HGNC.
Centrosomal protein 112
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CEP112
SynonymsGene synonyms aliases
CCDC46, MACOCO, SPGF44
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q24.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 21399614
GO:0005886 Component Plasma membrane IEA
GO:0060077 Component Inhibitory synapse IEA
GO:0097120 Process Receptor localization to synapse IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
KNRNLYAKLLLHMLKRGALEGPFTHRPEPGTLKILPSY
MSIYFDEPNPARAKGSSPEGLP
AWVLGELETSEHKLNESWKLSSGEDNTLVQSPTDVYSREQYTGKLRVRSHSLSPTHREDG
QNITPKICEVYSKKSPVSLDDSDIEARLNSWNLGIENPRYLRQKPIPVSLMTPKFSLRKS
SSFHDDHFLSRIREKELDMKTKMMEAKFHEEKLKLQQKHDADVQKILERKNNEIEELKTL
YRSKQHETEETIRKLEKKVQTLIRDCQVIRETKEDQIAELKKICEQSTESLNNDWEKKLH
NAVAEMEQEKFDLQKQHTENIQELLEDTNVRLNKMESEYMAQTQSTNHMIKELEARVQQL
TGEAENSNLQRQKLIQEKAELERCYQITCSELQEVKARRNTLHKEKDHLVNDYEQNMKLL
QTKYDADINLLKQEHALSASKASSMIEELEQNVCQLKQQLQESELQRKQQLRDQENKFQM
EKSHLKHIYEKKAHDLQSELDKGKEDTQKKIHKFEEALKEKEEQLTRVTEVQRLQAQQAD
AALEEFKRQVELNSEKVYAEMKEQMEKVEADLTRSKSLREKQSKEFLWQLEDIRQRYEQQ
IVELKLEHEQEKTHLLQQHNAEKDSLVRDHEREIENLEKQLRAANMEHENQIQEFKKRDA
QVIADMEAQVHKLREELINVNSQRKQQLVELGLLREEEKQRATREHEIVVNKLKAESEKM
KIELKKTHAAETEMTLEKANSKLKQIEKEYTQKLAKSSQIIAELQTTISSLKEENSQQQL
AAERRLQDVRQKFEDEKKQLIRDNDQAIKVLQDELENRSNQVRCAEKKLQHKELESQEQI
TYIRQEYETKLKGLMPASLRQELEDTISSLKSQVNFLQKRASILQEELTTYQGRR
Sequence length 955
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019 20732626
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412