CC2D2A - coiled-coil and C2 domain containing 2A Gene

Also Known as MKS6; RP93; JBTS9; COACH2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57545

About CC2D2A

Cytogenetic location: 4p15.32 Genomic coordinates (GRCh38): 4:15,469,865-15,601,557 (from NCBI)

This gene has 24 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in kidney (RPKM 3.7), endometrium (RPKM 3.2) and 23 other tissues.

Summary

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

CC2D2A Products (5)

mRNA	Protein	Name
NM_001080522.2	NP_001073991.2	coiled-coil and C2 domain-containing protein 2A isoform a
NM_001164720.3	NP_001158192.1	coiled-coil and C2 domain-containing protein 2A isoform c
NM_001378615.1	NP_001365544.1	coiled-coil and C2 domain-containing protein 2A isoform a
NM_001378617.1	NP_001365546.1	coiled-coil and C2 domain-containing protein 2A isoform d
NM_020785.2	NP_065836.2	coiled-coil and C2 domain-containing protein 2A isoform b

CC2D2A Protein Structure

CC2D2AN-C2

0
300
600
900
1200
1500
1620 a.a.

Protein Preferred Names	Protein Names
coiled-coil and C2 domain-containing protein 2A

Related Diseases

Diseases	Alias
Joubert Syndrome 9	JBTS9 Joubert Syndrome, Type 9
Meckel Syndrome, Type 6	Meckel Syndrome 6 MKS6 Meckel-Gruber Syndrome, Type 6
Coach Syndrome 2	COACH2
Retinitis Pigmentosa 93	RP93 Retinitis Pigmentosa, Type 93
Coach Syndrome 1	Coach Syndrome Joubert Syndrome With Congenital Hepatic Fibrosis Gentile Syndrome Joubert Syndrome With Hepatic Defect Js-H COACH1 Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Arima Syndrome	Dekaban-Arima Syndrome Joubert Syndrome With Bilateral Chorioretinal Coloboma Cors Cerebello-Oculo-Renal Syndrome Cerebellooculorenal Syndrome Js Type B Js-Or Joubert Syndrome 5 Joubert Syndrome With Senior-Loken Syndrome Joubert Syndrome With Oculorenal Defect Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia Cerebrooculohepatorenal Syndrome Joubert Syndrome With Oculorenal Anomalies Cerebro-Oculo-Hepato-Renal Syndrome Chorioretinal Coloboma With Cerebellar Vermis Aplasia Dekaban Arima Syndrome Cor Bj Familial Aplasia Of The Vermis
Encephalocele	Cephalocele Craniocele Bifid Cranium Cranium Bifidum Encephaloceles
Oligohydramnios	Oligohydramnios - Delivered Antepartum Oligohydramnios Delivered Oligohydramnios Oligohydramnios, Antepartum Condition Or Complication Deficient Liquor Oligohydramnios, Unspecified Trimester Reduced Liquor Volume
Talipes Equinovarus	Congenital Equinovarus Congenital Talipes Equinovarus Equinovarus Congenital Varus Clubfoot
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	CCF Familial Clubfoot Due To 5q31 Microdeletion Familial Clubfoot Due To Pitx1 Point Mutation Hereditary Clubfoot Due To Pitx1 Point Mutation Hereditary Clubfoot Due To 5q31 Microdeletion Talipes Equinovarus Tev Clubfoot, Congenital, With/Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Polydactyly, Postaxial, Type A1	Postaxial Polydactyly Type A Polydactyly, Postaxial Postaxial Polydactyly PAPA1 Postaxial Polydactyly, Type A Papa Polydactyly, Postaxial, Types A1 And B Postaxial Polydactyly Type B Polydactyly Postaxial Polydactyly, Postaxial A1 Polydactyly, Postaxial B PAPB Postaxial Polydactyly, Type A1/B Polydactyly, Postaxial, Type A Pyogenic Arthritis, Pyoderma Gangrenosum And Acne Postaxial Polydactyly, Type B
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Retinitis Pigmentosa 69	RP69 Retinitis Pigmentosa, Type 69
Nephronophthisis 11	NPHP11 Nephronophthisis, Type 11
Joubert Syndrome 2	Cerebellooculorenal Syndrome 2 JBTS2 Cors2 Cerebello-Oculo-Renal Syndrome 2 Joubert Syndrome, Type 2
Joubert Syndrome 5	JBTS5 Joubert Syndrome, Type 5
Apraxia	Apraxias Dyspraxia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Joubert Syndrome 13	JBTS13 Joubert Syndrome, Type 13
Meckel Syndrome, Type 3	MKS3 Meckel Syndrome 3 Meckel-Gruber Syndrome, Type 3 Meckel Syndrome Type 3
Joubert Syndrome 3	JBTS3 Joubert Syndrome With Ocular Defect Joubert Syndrome With Ocular Anomalies Js-O Joubert Syndrome With Retinopathy Joubert Syndrome-3 Joubert Syndrome, Type 3
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Orofaciodigital Syndrome Vi	OFD6 Varadi-Papp Syndrome Varadi Syndrome Joubert Syndrome With Orofaciodigital Defect Orofaciodigital Syndrome Type 6 Orofaciodigital Syndrome 6 Oral-Facial-Digital Syndrome, Type Vi Ofds Vi Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation Polydactyly Cleft Lip Palate Psychomotor Retardation Oral-Facial-Digital Syndrome Type 6 Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome Polydactyly - Cleft Lip/Palate - Psychomotor Retardation Váradi Syndrome Váradi-Papp Syndrome Joubert Syndrome With Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome 6 Joubert-Orofaciodigital Syndrome Orofaciodigital Syndrome, Type Vi
Joubert Syndrome 20	JBTS20 Joubert Syndrome, Type 20
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Joubert Syndrome 15	JBTS15 Joubert Syndrome, Type 15
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Retinitis Pigmentosa 4	RP4 Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive Retinitis Pigmentosa, Rhodopsin-Related Retinitis Pigmentosa, Type 4
Retinitis Pigmentosa 54	RP54 Retinitis Pigmentosa, Type 54
Retinitis Pigmentosa 39	RP39 Retinitis Pigmentosa, Type 39
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Orofaciodigital Syndrome	Oral-Facial-Digital Syndrome Orofaciodigital Syndromes Ofd Oral Facial Digital Syndromes Oral-Facial-Digital Syndromes Dysplasia Linguofacialis Ofds Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral Facial Digital Syndrome Orofaciodigital Syndrome I
Cogan Syndrome	Cogan'S Syndrome Diffuse Interstitual Keratitis Cogans Syndrome Oculovestibuloauditory Syndrome
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Nephronophthisis 2	NPHP2 Nph2 Nephronophthisis 2, Infantile Infantile Nephronophthisis 2 Infantile Nephronophthisis Nephronophthisis, Type 2
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02019	CC2D2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CC2D2A	MGD	MGI:1924487
Felis catus	CC2D2A	VGNC	VGNC:60438
Rattus norvegicus	CC2D2A	RGD	RGD:1561042
Macaca mulatta	CC2D2A	VGNC	VGNC:70667
Canis familiaris	CC2D2A	VGNC	VGNC:53158
Bos taurus	CC2D2A	VGNC	VGNC:26826
Others	CC2D2A	NCBI