PRR12 - proline rich 12 Gene

Homo sapiens

Also known as NOC; KIAA1205

Gene ID: 57479 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11223	PRR12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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