2. Gene
  3. PRR12 - proline rich 12 Gene

PRR12 - proline rich 12 Gene

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

中文名称：富脯氨酸 12

种属: Homo sapiens

同用名: NOC; KIAA1205

基因 ID: 57479 | 基因类型: protein coding

关于 PRR12

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,591,182-49,626,439 (from NCBI)

This gene has 2 transcripts (splice variants), 265 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 6.1), fat (RPKM 4.6) and 25 other tissues.

功能概要

该基因编码一种富含脯氨酸的蛋白质，其中包含两个 AT 钩 DNA 结合域。该基因与含有 1 的 MIZ 型锌指 (基因 ID：57178) 之间的染色体易位和基因融合可能是人类患者智力障碍和神经精神问题的基础。该基因在胚胎小鼠大脑中的丰富表达表明该基因可能在神经系统发育中发挥作用。[RefSeq 提供，2016 年 7 月]

This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]

PRR12 基因产物(1)

mRNA Protein Name
NM_020719.3 NP_065770.1 proline-rich protein 12

PRR12 蛋白结构

DUF4211

DUF4211: Domain of unknown function (DUF4211) (1820 - 1950)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2036 a.a.
蛋白主名 其他名称

proline-rich protein 12

关联疾病

疾病名称 别名
Neuroocular Syndrome

NOC
Coloboma Of Iris

Iris Coloboma

Cleft Iris

Congenital Coloboma Of Iris

Notched Iris

Coloboma Nos

Coloboma Of Iris, Choroid And Retina

Coloboma Of Eye

Congenital Ocular Coloboma

Ocular Coloboma
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Autosomal Dominant Nonsyndromic Deafness 77

Dfna77
Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye
Lissencephaly 4

LIS4

Lissencephaly 4 With Microcephaly

Microlissencephaly

Lissencephaly, Type 4
Mirror Movements 1

Congenital Mirror Movement Disorder

Bimanual Synergia

Congenital Mirror Movements

Familial Congenital Controlateral Synkinesia

Familial Congenital Mirror Movements

Hereditary Congenital Controlateral Synkinesia

Hereditary Congenital Mirror Movements

Isolated Congenital Controlateral Synkinesia

Isolated Congenital Mirror Movements

Mirror Movements

MRMV1

Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum

Mirror Movements, Congenital

Bimanual Synkinesis

Cmm

Mirror Movements, Type 1
Floating-Harbor Syndrome

FLHS

Fhs

Pelletier-Leisti Syndrome

Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes

Leisti-Hollander-Rimoin Syndrome
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS11223 PRR12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PRR12 RGD RGD:1309896
Bos taurus PRR12 VGNC VGNC:33389
Mus musculus PRR12 MGD MGI:2679002
Canis familiaris PRR12 VGNC VGNC:45037
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