CC2D1A - coiled-coil and C2 domain containing 1A Gene

Also Known as Lgd2; MRT3; TAPE; Aki-1; FREUD-1; Freud-1/Aki1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54862

About CC2D1A

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:13,906,201-13,930,879 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 121 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 16.8), small intestine (RPKM 12.5) and 25 other tissues.

Summary

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]

CC2D1A Products (2)

mRNA	Protein	Name
NM_001411138.1	NP_001398067.1	coiled-coil and C2 domain-containing protein 1A isoform 2
NM_017721.5	NP_060191.3	coiled-coil and C2 domain-containing protein 1A isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	12917378	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	12917378	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16730941	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of snRNA transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12917378	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CC2D1A Protein Structure

C2

0
200
400
600
800
951 a.a.

Protein Preferred Names	Protein Names
coiled-coil and C2 domain-containing protein 1A	Akt kinase-interacting protein 1

CC2D1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CC2D1A	Q6P1N0	CHMP4B	Homo sapiens	Q9H444	Y2H	16730941

Cross: Cross-species interaction Intra: Intraspecies interaction

CC2D1A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83257	CC2D1A Antibody (YA3002)	WB, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Recessive 3	MRT3 Autosomal Recessive Intellectual Developmental Disorder 3 Mental Retardation, Autosomal Recessive 3
Autosomal Recessive Non-Syndromic Intellectual Disability	Ar-Nsid Ns-Arid
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
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Marshall-Smith Syndrome	MRSHSS Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome Mss
Pitt-Hopkins-Like Syndrome 2	PTHSL2 Mesh D006985 Mesh D008607
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02018	CC2D1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21101	Cc2d1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27620	Cc2d1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CC2D1A	VGNC	VGNC:70677
Canis familiaris	CC2D1A	VGNC	VGNC:38771
Rattus norvegicus	CC2D1A	RGD	RGD:1306108
Mus musculus	CC2D1A	MGD	MGI:2384831
Felis catus	CC2D1A	VGNC	VGNC:60436
Bos taurus	CC2D1A	VGNC	VGNC:26824
Others	CC2D1A	NCBI