PRR12 - proline rich 12 Gene

Also Known as NOC; KIAA1205

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57479

About 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.

Summary

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 Products (1)

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

PRR12 Protein Structure

DUF4211

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

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2036 a.a.
Protein Preferred Names Protein Names

proline-rich protein 12

Related Diseases

Diseases Alias
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
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11223 PRR12 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others PRR12 NCBI