Gene Gene information from NCBI Gene database.
Entrez ID 285025
Gene name Coiled-coil domain containing 141
Gene symbol CCDC141
Synonyms (NCBI Gene)
CAMDI
Chromosome 2
Chromosome location 2q31.2
miRNA miRNA information provided by mirtarbase database.
246
miRTarBase ID miRNA Experiments Reference
MIRT018715 hsa-miR-335-5p Microarray 18185580
MIRT643953 hsa-miR-508-5p HITS-CLIP 23824327
MIRT643952 hsa-miR-622 HITS-CLIP 23824327
MIRT643951 hsa-miR-1273g-3p HITS-CLIP 23824327
MIRT643950 hsa-miR-3925-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12812986, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005856 Component Cytoskeleton IEA
GO:0007420 Process Brain development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616031 26821 ENSG00000163492
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZP82
Protein name Coiled-coil domain-containing protein 141 (Coiled-coil protein associated with myosin II and DISC1)
Protein function Plays a critical role in cortical radial and GnRH neurons migration during brain development. Regulates cortical radial migration by negatively controlling the activity of histone deacetylase 6 (HDAC6) and promotes centrosome maturation. CAMDI i
Family and domains
Sequence
MSSQGSPSVALSTTTVSSVAVQAGDSKIVIAVIKCGKWVQLQLAESQPNLLEIGSSQDET
KKLLHDHELLLAKLKALEDRVWELLQEADKTAEENKDQSQVYDAMAETLGEAWAALVSML
ERRTELLRLTSEFFENALEFAIKIDQAEDFLQNTHEFESAESLKSLLQLHEHHTKELLER
SLALLNKSQQLTDFIEKFKCEGPNVNPELTQGAHSSCLKVDRLLELLQDRRRQLDKYLKQ
QWQELSQVLQICQWDQQENQVTCWFQKTIRNLQEQSLGSSLSDNEDRIHKQEELIIKAKE
WNSAVEKLKSEALRILLSKDYVEKEHLQLSHQKLSQLQEEFGQLMVERNTWLKKANEFFN
SANKAFDVLGRVEAYLKLLKSEGLSLAVLAVRHEELHRKIKDCTTDALQKGQTLISQVDS
CSSQVSGIHEMMGCIKRRVDHLTEQCSAHKEYALKKQQLTASVEGYLRKVEMSIQKISPV
LSNAMDVGSTRSESEKILNKYLELDIQAKETSHELEAAAKTMMEKNEFVSDEMVSLSSKA
RWLAEELNLFGQSIDYRSQVLQTYVAFLKSSEEVEMQFQSLKEFYETEIPQKEQDDAKAK
HCSDSAEKQWQLFLKKSFITQDLGLEFLNLINMAKENEILDVKNEVYLMKNTMENQKAER
EELSLLRLAWQLKATESKPGKQQWAAFKEQLKKTSHNLKLLQEALMPVSALDLGGSLQFI
LDLRQKWNDMKPQFQQLNDEVQYIMKESEELTGRGAPVKEKSQQLKDLIHFHQKQKERIQ
DYEDILYKVVQFHQVKEELGRLIKSRELEFVEQPKELGDAHDVQIHLRCSQEKQARVDHL
HRLALSLGVDIISSVQRPHCSNVSAKNLQQQLELLEEDSMKWRAKAEEYGRTLSRSVEYC
AMRDEINELKDSFKDIKKKFNNLKFNYTKKNEKSRNLKALKYQIQQVDMYAEKMQALKRK
MEKVSNKTSDSFLNYPSDKVNVLLEVMKDLQKHVDDFDKVVTDYKKNLDLTEHFQEVIEE
CHFWYEDASATVVRVGKYSTECKTKEAVKILHQQFNKFIAPSVPQQEERIQEATDLAQHL
YGLEEGQKYIEKIVTKHKEVLESVTELCESLTELEEKLKQGDVLKMNPNLEDFHYDYIDL
LKEPAKNKQTIFNEERNKGQVQVADLLGINGTGEERLPQDLKVSTDKEGGVQDLLLPEDM
LSGEEYECVSPDDISLPPLPGSPESPLAPSDMEVEEPVSSSLSLHISSYGVQAGTSSPGD
AQESVLPPPVAFADACNDKRETFSSHFERPYLQFKAEPPLTSRGFVEKSTALHRISAEHP
ESMMSEVHERALQQHPQAQGGLLETREKMHADNNFTKTQDRLHASSDAFSGLRFQSGTSR
GYQRQMVPREEIKSTSAKSSVVSLADQAPNFSRLLSNVTVMEGSPVTLEVEVTGFPEPTL
TWWVAYNDKP
Sequence length 1450
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
29
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CCDC141-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs917442110, rs186331250, rs2043623829, rs1250474766, rs763465534, rs372879210, rs112292444, rs61744343, rs373816025, rs141939661, rs114129666, rs540836199, rs61738855, rs150796414, rs144766496
View all (2 more)
RCV004754827
RCV003958552
RCV003416795
RCV003406166
RCV003397682
RCV003400408
RCV003946651
RCV003909079
RCV003981482
RCV003938161
RCV003935828
RCV003943000
RCV004754659
RCV003923011
RCV003958339
RCV003902898
RCV003432909
Clear cell carcinoma of kidney Uncertain significance rs375598558 RCV005925666
Disorder of sexual differentiation Uncertain significance rs752970629 RCV001568334
Hypogonadotropic hypogonadism Uncertain significance rs1684498900, rs768401425 RCV001837178
RCV001837179
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 28525603
Hypogonadism Associate 33270637
Idiopathic Hypogonadotropic Hypogonadism Associate 28324054, 33208564
Kallmann Syndrome Associate 28324054
Schizophrenia Associate 28525603
Sick Sinus Syndrome Associate 33580673