CC2D2A (GeneID: 57545) | Homo sapiens
Description: coiled-coil and C2 domain containing 2A [Source:HGNC Symbol;Acc:HGNC:29253]
Synonyms: JBTS9, MKS6
Other ID(s): HGNC:29253, ENSG00000048342
Protein Accession Numbers: ENST00000424120, ENST00000512702, ENST00000506643, NP_001365546, ENST00000438599, NP_001073991, ENST00000413206, ENST00000511544, ENST00000503658, NP_001365544, ENST00000424120.1, ENST00000515124, ENST00000389652, ENST00000507954, NP_065836, ENST00000503292, NP_001158192
Statistics: ClinVar(1023) gnomAD(4176) COSMIC(1509) PTM(27)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000389652 ENST00000413206 You are here now! ENST00000424120 You are here now! ENST00000438599 ENST00000503292 You are here now! ENST00000503658 ENST00000506643 ENST00000507954 ENST00000511544 ENST00000512702 ENST00000515124 NP_001073991 You are here now! NP_001158192 NP_001365544 You are here now! NP_001365546 NP_065836


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00168 C2 C2 domain 1041-1205 CL0154 C2 Homo sapiens
PF15625 CC2D2AN-C2 CC2D2A N-terminal C2 domain 645-819 CL0154 C2 Homo sapiens
PF17661 DUF5523 Family of unknown function (DUF5523) 131-383 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Cholestasis Digestive System Diseases ; 0.559 0.621
Congenital ocular coloboma (disorder) Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.559 0.621
Hydrocephalus Nervous System Diseases ; 0.559 0.621
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.559 0.621
Gastrointestinal Stromal Tumors Neoplasms ; Digestive System Diseases ; 0.559 0.621
Meckel-Gruber syndrome N/A 0.559 0.621
Epileptic encephalopathy N/A 0.559 0.621
Cholestasis in newborn N/A 0.559 0.621
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.559 0.621
Arima syndrome Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.559 0.621
COACH syndrome Digestive System Diseases ; Nervous System Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.559 0.621
JOUBERT SYNDROME 9 (disorder) Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.559 0.621
MECKEL SYNDROME, TYPE 6 (disorder) Nervous System Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.559 0.621
Gastrointestinal Stromal Sarcoma Neoplasms ; Digestive System Diseases ; 0.559 0.621
JOUBERT SYNDROME 9/15, DIGENIC N/A 0.559 0.621
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.559 0.621
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.559 0.621
NO RESULT FOUND
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