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

Homo sapiens

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

Gene ID: 54862 | Gene type: protein coding

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	Reference	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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02018	CC2D1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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