PCDH12 - protocadherin 12 Gene

Also Known as DMJDS1; VECAD2; VE-cadherin-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51294

About PCDH12

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,943,581-141,958,202 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues, 61 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 15.3), lung (RPKM 10.9) and 20 other tissues.

Summary

This gene belongs to the protocadherin gene family, a subfamily of the Cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 Cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical Cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]

PCDH12 Products (1)

mRNA Protein Name
NM_016580.4 NP_057664.1 protocadherin-12 precursor

PCDH12 Protein Structure

Cadherin_2

Cadherin_2: Cadherin-like (32 - 112)

Cadherin

Cadherin: Cadherin domain (142 - 235)

Cadherin

Cadherin: Cadherin domain (252 - 343)

Cadherin

Cadherin: Cadherin domain (363 - 450)

Cadherin

Cadherin: Cadherin domain (465 - 555)

Cadherin

Cadherin: Cadherin domain (618 - 693)

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  • 1184 a.a.
Protein Preferred Names Protein Names

protocadherin-12

  • VE-cad-2

Related Diseases

Diseases Alias
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

  • DMJDS1

  • Microcephaly, Seizures, Spasticity, And Brain Calcifications

  • Missbc

  • Microcephaly With Spastic Quadriplegia

  • Dysplasia, Diencephalic-Mesencephalic Junction, Syndrome 1
Diencephalic-Mesencephalic Junction Dysplasia

  • Diencephalic-Mesencephalic Junction Dysplasia Syndrome
Microcephaly With Spastic Quadriplegia

  • Recessive Microcephaly With Spastic Quadriplegia
Coats Disease

  • Exudative Retinopathy

  • Retinal Telangiectasis

  • Coats' Disease

  • Leber Miliary Aneurysm

  • Coats' Syndrome

  • Congenital Retinal Telangiectasia
Dystonia

  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia
Aceruloplasminemia

  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP
Dyskinetic Cerebral Palsy

  • Athetoid Cerebral Palsy

  • Athetoid Dyskinetic Cerebral Palsy

  • Cerebral Palsy Athetoid

  • Cerebral Palsy Dyskinetic

  • Athetoid Cerebral Paralysis

  • Dyskinetic Cerebral Paralysis

  • Vogt Disease

  • Athetoid Cerebrum Palsy

  • Double Athetosis Syndrome

  • État Marbré
Cerebellar Ataxia Type 47

  • Sca47
Developmental And Epileptic Encephalopathy 9

  • Efmr

  • Epileptic Encephalopathy, Early Infantile, 9

  • Eiee9

  • DEE9

  • Juberg-Hellman Syndrome

  • Epilepsy, Female-Restricted, With Mental Retardation

  • Developmental And Epileptic Encephalopathy, 9

  • Early Infantile Epileptic Encephalopathy 9

  • Early Infantile Female-Limited Epilecptic Encephalopathy

  • Female Restricted Epilepsy With Mental Retardation

  • Juberg Hellman Syndrome

  • Pcdh19-Related Female-Limited Epilepsy

  • Epilepsy And Intellectual Disability Limited To Females

  • Epilepsy, Female Restricted, With Intellectual Disability

  • Familial Epilepsy And Intellectual Disability Limited To Females

  • Female Restricted Epilepsy With Intellectual Delays

  • Pcdh19-Related Fle

  • Pcdh19-Related Infantile Epileptic Encephalopathy

  • Female Restricted Epilepsy With Intellectual Disability

  • Encephalopathy, Epileptic, Early Infantile, Type 9
Retinitis Pigmentosa 19

  • RP19

  • Retinitis Pigmentosa-19

  • Retinitis Pigmentosa, Type 19
Usher Syndrome, Type If

  • Usher Syndrome Type 1f

  • USH1F

  • Usher Syndrome, Type 1f

  • Usher Syndrome Type If

  • Usher Syndrome 1f

  • Usher'S Syndrome Type 1f
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Cerebral Palsy

  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
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-RS10124 PCDH12 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21901 Pcdh12 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28418 Pcdh12 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus PCDH12 VGNC VGNC:68716
Bos taurus PCDH12 VGNC VGNC:32616
Mus musculus PCDH12 MGD MGI:1855700
Canis familiaris PCDH12 VGNC VGNC:44295
Rattus norvegicus PCDH12 RGD RGD:619917
Macaca mulatta PCDH12 VGNC VGNC:75776
Others PCDH12 NCBI