CC2D2B (coiled-coil and C2 domain containing 2B)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 387707
Gene name Coiled-coil and C2 domain containing 2B
Gene symbol CC2D2B
Synonyms (NCBI Gene)
C10orf130C10orf131
Chromosome 10
Chromosome location 10q24.1
miRNA miRNA information provided by mirtarbase database.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT016905 hsa-miR-335-5p Microarray 18185580
MIRT867118 hsa-miR-1244 CLIP-seq
MIRT867119 hsa-miR-4504 CLIP-seq
MIRT867120 hsa-miR-543 CLIP-seq
MIRT867121 hsa-miR-549 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
GO ID Ontology Definition Evidence Reference
GO:0035869 Component Ciliary transition zone IBA
GO:1904491 Process Protein localization to ciliary transition zone IBA
GO:1905515 Process Non-motile cilium assembly IBA
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
HGNC N/A HGNC
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.
Q6DHV5
Protein name Protein CC2D2B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17661 DUF5523 13 → 259 Family of unknown function (DUF5523) Family
Sequence 
MKKSQREDIFKKMSEEMDNITAEEIIDKHLQKDLDAEENQNVAKTLRGKVREKLKISKIN
KGEKSSTEQLIDSEIHQRSKLSPQTEVSLDESLSFFILSGEEGSALGKSSEQRPVNRSYP
KCFSLGVNLQNVAESEEEEFMKEFILTDILKVKAADYEDDQEQIKKQKANIFVPSSSPVV
NQRKLPKDMMPRILEDEGFYIQRKPEIYKKTCNKMENRLLKLEEGKCWFGESGEIMSLPT
PIKQSWNFRLNVRKEPLNPLLKTIYRKAVKYDLGSSFMNKMEGSREIYQLDLNIVGLQFS
HHHLFNQEQVLCARLLQLYECFQDRQQQNVSQLLYEKLKALTDATKLSNENSEINQLTRK
SLQDYYWQISNTKQMYDLERGKDLSLLHSILRTWKQIKSLRHGQGFTSTPIKLQVQRIKM
NKCDEQEQISEMSETEKKNEGKELKNGKKLESLSYLASDETEIERIKPITLRPQLSFTAE
LTSLSKCSLHEQKRRAKIQKLKYFIKIFYNNKQVSCTSVSPLQFDFKVMFQQIFNIQLMY
WPEVICLEVYEKSKRTSLLAKLYIPLPNYTELKGKTALQYVEFSSDKLVMPADGEVGSNV
PFLLEGNGTEELCLLTSGKLSYSLSWSLDENGLPLIPMPQSLRSSYCSMLRNVDARSVPG
IPWLMNEQKLFEWANEVRIDPNNPEYSDLMESVTYMRLKGQDIPKYFRLEQLQDEFNFVS
EEEMAKSKRFQLLQLRNAGQLDNFLLQQMPLHDTEIPDLVFQEYESQKEKEVSVSDVNSI
TAQRINSANFLKKVRRLIMKRIVKISKCNLSDIVNDYEEIVSTSQLTDAVCKFVEPRRKL
KPQRKERKKVTAQAISDGDIKILVRIVRAYNIPTRKTTINGSLDMPTCLKSSISCLRHRE
TIKSVASDETLHEDTVHPFVEVSFQHTVYKTNTASGSHPCWNEEIKVDFVSPGHDYSFSS
LSKIKDNIYINIFDEMMTEKHEDHCLKSCSGHSYIRKNWLGCIVFPFSALLQQSEISGTF
QVTIPPVLLGYTWSNTYVFPKEDSNEQNLKECTFLNIFATIEPQISYVTCNPTLDKFLDQ
TEVLQRAQIFKKNCKAMFPNRRIVTTVFNDEGIQFLVTRYIKALNPPQQLLDIFLHNSNA
TFDLIARFVSLIPFVPNTPDENDGSDIWMTSEHCISLAIGNKEEHAILLCNFFLYFGKKA
LVLLGTSVLEGHVAYVVTQETNEYLLWNPSTGQCYKQFDPFCPLKSVDCLFDDRNVWFNI
QQNNTPMAVFFDYSKESFWKQLLPKNVQGTKIQSIQPEEIIYFETDKSMVEDLRNRIERT
LKSKVMEWRPKHPTHWNRQCTFILRQILPKLEFGIGSFVSSEGDNEFERILQFYWVTGFP
IQMPYIDVQSIIDAVYQTGIHSAEFPQTEFALAVYIHPYPNNILSVWVYLASLVQHQ
Sequence length 1437
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (2)
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.
Phenotype Name Clinical Significance Source Evidence Score
DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations