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Aliases for CC2D1A Gene

Aliases for CC2D1A Gene

  • Coiled-Coil And C2 Domain Containing 1A 2 3
  • Five Prime Repressor Element Under Dual Repression-Binding Protein 1 3 4
  • Putative NF-Kappa-B-Activating Protein 023N 3 4
  • FRE Under Dual Repression-Binding Protein 1 3 4
  • Akt Kinase-Interacting Protein 1 3 4
  • FREUD-1 3 4
  • MRT3 3 6
  • Five Repressor Element Under Dual Repression-Binding Protein 1 3
  • Mental Retardation, Nonsyndromic, Autosomal Recessive, 3 3
  • Coiled-Coil And C2 Domain-Containing Protein 1A 3
  • Putative NFkB Activating Protein 3
  • Autosomal Recessive 2
  • Mental Retardation 2
  • Nonsyndromic 2
  • Freud-1/Aki1 3
  • AKI1 4
  • 3 2

External Ids for CC2D1A Gene

Summaries for CC2D1A Gene

Entrez Gene Summary for CC2D1A Gene

  • This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]

GeneCards Summary for CC2D1A Gene

CC2D1A (Coiled-Coil And C2 Domain Containing 1A) is a Protein Coding gene. Diseases associated with CC2D1A include mental retardation and autosomal recessive non-syndromic intellectual disability. Among its related pathways are SIDS Susceptibility Pathways. GO annotations related to this gene include signal transducer activity and RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription. An important paralog of this gene is CC2D1B.

UniProtKB/Swiss-Prot for CC2D1A Gene

  • Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.

Gene Wiki entry for CC2D1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CC2D1A Gene

Genomics for CC2D1A Gene

Genomic Location for CC2D1A Gene

Start:
13,906,143 bp from pter
End:
13,930,880 bp from pter
Size:
24,738 bases
Orientation:
Plus strand

Genomic View for CC2D1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CC2D1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CC2D1A Gene

Regulatory Elements for CC2D1A Gene

Proteins for CC2D1A Gene

  • Protein details for CC2D1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1N0-C2D1A_HUMAN
    Recommended name:
    Coiled-coil and C2 domain-containing protein 1A
    Protein Accession:
    Q6P1N0
    Secondary Accessions:
    • Q7Z435
    • Q86XV0
    • Q8NF89
    • Q9H603
    • Q9NXI1

    Protein attributes for CC2D1A Gene

    Size:
    951 amino acids
    Molecular mass:
    104062 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91029.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAB15464.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CC2D1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CC2D1A Gene

Proteomics data for CC2D1A Gene at MOPED

Post-translational modifications for CC2D1A Gene

  • Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CC2D1A Gene

No data available for DME Specific Peptides for CC2D1A Gene

Domains for CC2D1A Gene

Protein Domains for CC2D1A Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

C2D1A_HUMAN
Domain:
  • The C2 domain is required for the repression.:
    • Q6P1N0
  • Contains 1 C2 domain.:
    • Q6P1N0
Family:
  • Belongs to the CC2D1 family.:
    • Q6P1N0
genes like me logo Genes that share domains with CC2D1A: view

No data available for Gene Families for CC2D1A Gene

Function for CC2D1A Gene

Molecular function for CC2D1A Gene

UniProtKB/Swiss-Prot Function: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.

Gene Ontology (GO) - Molecular Function for CC2D1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA --
GO:0004871 signal transducer activity IMP 12761501
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CC2D1A: view
genes like me logo Genes that share phenotypes with CC2D1A: view

Animal Models for CC2D1A Gene

MGI Knock Outs for CC2D1A:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CC2D1A Gene

Localization for CC2D1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CC2D1A Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CC2D1A Gene COMPARTMENTS Subcellular localization image for CC2D1A gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
mitochondrion 2
endosome 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CC2D1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CC2D1A: view

Pathways for CC2D1A Gene

SuperPathways for CC2D1A Gene

genes like me logo Genes that share pathways with CC2D1A: view

Pathways by source for CC2D1A Gene

1 BioSystems pathway for CC2D1A Gene

Gene Ontology (GO) - Biological Process for CC2D1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0006351 transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter IBA --
GO:0007165 signal transduction IMP 12761501
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP 12761501
genes like me logo Genes that share ontologies with CC2D1A: view

Compounds for CC2D1A Gene

(1) HMDB Compounds for CC2D1A Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with CC2D1A: view

Transcripts for CC2D1A Gene

Unigene Clusters for CC2D1A Gene

Coiled-coil and C2 domain containing 1A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CC2D1A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a ·
SP1: - - -
SP2: - - - -
SP3: - - - - - - - - - - -
SP4: - - -
SP5:
SP6: - - -
SP7:
SP8: - -
SP9:

ExUns: 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CC2D1A Gene

GeneLoc Exon Structure for
CC2D1A
ECgene alternative splicing isoforms for
CC2D1A

Expression for CC2D1A Gene

mRNA expression in normal human tissues for CC2D1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CC2D1A Gene

SOURCE GeneReport for Unigene cluster for CC2D1A Gene Hs.269592

genes like me logo Genes that share expressions with CC2D1A: view

Orthologs for CC2D1A Gene

This gene was present in the common ancestor of animals.

Orthologs for CC2D1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CC2D1A 36
  • 98.84 (n)
  • 98.63 (a)
CC2D1A 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CC2D1A 36
  • 88.22 (n)
  • 91.48 (a)
CC2D1A 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CC2D1A 36
  • 87.73 (n)
  • 90.96 (a)
CC2D1A 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cc2d1a 36
  • 81.27 (n)
  • 81.87 (a)
Cc2d1a 16
Cc2d1a 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CC2D1A 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CC2D1A 37
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cc2d1a 36
  • 81.47 (n)
  • 82.14 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 56 (a)
OneToMany
-- 37
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cc2d1a 36
  • 58.09 (n)
  • 55.08 (a)
zebrafish
(Danio rerio)
Actinopterygii CC2D1A 37
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010539 36
  • 48.58 (n)
  • 39.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)gd1 36
  • 48.92 (n)
  • 39.69 (a)
l(2)gd1 37
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_Y37H9A.3 36
  • 43.35 (n)
  • 33.44 (a)
Y37H9A.3 37
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 31 (a)
ManyToMany
-- 37
  • 40 (a)
ManyToMany
-- 37
  • 32 (a)
ManyToMany
Species with no ortholog for CC2D1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CC2D1A Gene

ENSEMBL:
Gene Tree for CC2D1A (if available)
TreeFam:
Gene Tree for CC2D1A (if available)

Paralogs for CC2D1A Gene

Paralogs for CC2D1A Gene

Selected SIMAP similar genes for CC2D1A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CC2D1A: view

Variants for CC2D1A Gene

Sequence variations from dbSNP and Humsavar for CC2D1A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs750580 -- 13,926,955(-) GAGAG(A/G)AAGTT intron-variant
rs750581 -- 13,926,932(-) GCCAT(G/T)GTCTT intron-variant
rs897785 -- 13,926,281(+) AGTAG(A/G)TACCA intron-variant
rs1963954 -- 13,912,011(+) CGCCC(A/G)GCCTA intron-variant
rs2290663 - 13,923,774(+) CGCCC(A/T)CCGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CC2D1A Gene

Variant ID Type Subtype PubMed ID
nsv833757 CNV Loss 17160897
nsv911098 CNV Loss 21882294
dgv3738n71 CNV Loss 21882294
nsv911102 CNV Loss 21882294
dgv3739n71 CNV Loss 21882294
nsv833760 CNV Loss 17160897
dgv3740n71 CNV Loss 21882294
dgv3741n71 CNV Loss 21882294

Relevant External Links for CC2D1A Gene

HapMap Linkage Disequilibrium report
CC2D1A
Human Gene Mutation Database (HGMD)
CC2D1A

Disorders for CC2D1A Gene

(1) OMIM Diseases for CC2D1A Gene (610055)

UniProtKB/Swiss-Prot

C2D1A_HUMAN
  • Mental retardation, autosomal recessive 3 (MRT3) [MIM:608443]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. {ECO:0000269 PubMed:16033914}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CC2D1A Gene

Relevant External Links for CC2D1A

Genetic Association Database (GAD)
CC2D1A
Human Genome Epidemiology (HuGE) Navigator
CC2D1A
genes like me logo Genes that share disorders with CC2D1A: view

Publications for CC2D1A Gene

  1. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PMID: 12761501) Matsuda A. … Sugano S. (Oncogene 2003) 2 3 4
  2. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. (PMID: 16033914) Basel-Vanagaite L. … Shohat M. (J. Med. Genet. 2006) 2 3 4
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CC2D1A Gene

Sources for CC2D1A Gene

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