CC2D1A

Protein identityUniProt · HPA

UniProt accession

Q6P1N0

Gene

CC2D1A

Ensembl

ENSG00000132024

Chromosome

19

Canonical length

951 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoli fibrillar center,Plasma membrane,Basal body,Cytosol

OverviewNCBI 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 a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

951 residues, UniProt reviewed canonical sequence.

>Q6P1N0|CC2D1A
     1  MHKRKGPPGP PGRGAAAARQ LGLLVDLSPD GLMIPEDGAN DEELEAEFLA LVGGQPPALE
    61  KLKGKGPLPM EAIEKMASLC MRDPDEDEEE GTDEDDLEAD DDLLAELNEV LGEEQKASET
   121  PPPVAQPKPE APHPGLETTL QERLALYQTA IESARQAGDS AKMRRYDRGL KTLENLLASI
   181  RKGNAIDEAD IPPPVAIGKG PASTPTYSPA PTQPAPRIAS APEPRVTLEG PSATAPASSP
   241  GLAKPQMPPG PCSPGPLAQL QSRQRDYKLA ALHAKQQGDT TAAARHFRVA KSFDAVLEAL
   301  SRGEPVDLSC LPPPPDQLPP DPPSPPSQPP TPATAPSTTE VPPPPRTLLE ALEQRMERYQ
   361  VAAAQAKSKG DQRKARMHER IVKQYQDAIR AHKAGRAVDV AELPVPPGFP PIQGLEATKP
   421  TQQSLVGVLE TAMKLANQDE GPEDEEDEVP KKQNSPVAPT AQPKAPPSRT PQSGSAPTAK
   481  APPKATSTRA QQQLAFLEGR KKQLLQAALR AKQKNDVEGA KMHLRQAKGL EPMLEASRNG
   541  LPVDITKVPP APVNKDDFAL VQRPGPGLSQ EAARRYGELT KLIRQQHEMC LNHSNQFTQL
   601  GNITETTKFE KLAEDCKRSM DILKQAFVRG LPTPTARFEQ RTFSVIKIFP DLSSNDMLLF
   661  IVKGINLPTP PGLSPGDLDV FVRFDFPYPN VEEAQKDKTS VIKNTDSPEF KEQFKLCINR
   721  SHRGFRRAIQ TKGIKFEVVH KGGLFKTDRV LGTAQLKLDA LEIACEVREI LEVLDGRRPT
   781  GGRLEVMVRI REPLTAQQLE TTTERWLVID PVPAAVPTQV AGPKGKAPPV PAPARESGNR
   841  SARPLHSLSV LAFDQERLER KILALRQARR PVPPEVAQQY QDIMQRSQWQ RAQLEQGGVG
   901  IRREYAAQLE RQLQFYTEAA RRLGNDGSRD AAKEALYRRN LVESELQRLR R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CC2D1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

40 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CC2D1A.

Disease | AllUniProt

Conditions CC2D1A is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal recessive 3 (MRT3) MIM:608443

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 741 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, autosomal recessive 3
• Ciliopathy
• Global developmental delay
• Cerebral palsy
• Visual impairment

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.42

gnomAD pLI

0.01

gnomAD missense Z

0.94

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• endosome organization
• learning or memory
• long-term synaptic potentiation
• positive regulation of canonical NF-kappaB signal transduction
• regulation of postsynapse assembly
• regulation of respiratory gaseous exchange by nervous system process
• regulation of transcription by RNA polymerase II
• social behavior
• apical dendrite arborization
• negative regulation of snRNA transcription by RNA polymerase II

Molecular functions

• cadherin binding
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding

Cellular components

• centrosome
• ciliary basal body
• cytosol
• endosome membrane
• extracellular exosome
• fibrillar center
• glutamatergic synapse
• membrane
• nucleus
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• C2 domain
• Coiled-coil and C2 domain-containing protein 1, DM14 domain
• C2 domain superfamily
• Freud, C2 domain
• Coiled-coil and C2 domain-containing protein 1
• C2 domain
• Coiled-coil and C2 domain-containing protein 1, DM14 domain

KeywordsUniProt

• Coiled coil
• Cytoplasm
• Cytoskeleton
• DNA-binding
• Intellectual disability
• Nucleus
• Phosphoprotein
• Repressor
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of CC2D1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CHMP4B