2. Gene
  3. PCDH12 - protocadherin 12 Gene

PCDH12 - protocadherin 12 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：原钙粘蛋白 12

种属: Homo sapiens

同用名: DMJDS1; VECAD2; VE-cadherin-2

基因 ID: 51294 | 基因类型: protein coding

关于 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.

功能概要

该基因属于原钙粘蛋白基因家族，是钙粘蛋白超家族的一个亚家族。编码的蛋白质由一个含有 6 个钙粘蛋白重复序列的胞外结构域、一个跨膜结构域和一个不同于经典钙粘蛋白的细胞质尾部组成。该基因位于 5 号染色体上原钙粘蛋白基因簇所在的区域。该转录本的外显子组织与基因簇转录本的外显子组织相似，特别是第一个大外显子，但不存在明显的序列同源性。这种细胞粘附蛋白的功能尚未确定，但小鼠原钙粘蛋白 12 不结合连环蛋白，似乎对细胞迁移或生长没有影响。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

PCDH12 蛋白结构

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.
蛋白主名 其他名称

protocadherin-12

VE-cad-2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10124 PCDH12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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