PITPNM3 - PITPNM family member 3 Gene

Homo sapiens

Also known as NIR1; ACKR6; CORD5; RDGBA3

Gene ID: 83394 | Gene type: protein coding

About PITPNM3

Cytogenetic location: 17p13.2-p13.1 Genomic coordinates (GRCh38): 17:6,451,263-6,556,555 (from NCBI)

This gene has 5 transcripts (splice variants), 176 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in spleen (RPKM 27.1), ovary (RPKM 12.0) and 6 other tissues.

Summary

This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as Pyk2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

PITPNM3 Products(2)

mRNA	Protein	Name
NM_001165966.2	NP_001159438.1	membrane-associated phosphatidylinositol transfer protein 3 isoform 2
NM_031220.4	NP_112497.2	membrane-associated phosphatidylinositol transfer protein 3 isoform 1

PITPNM3 Protein Structure

DDHD

LNS2

0
200
400
600
800
974 a.a.

Protein Preferred Names

Protein Names

membrane-associated phosphatidylinositol transfer protein 3

NIR-1

Related Diseases

Diseases

Alias

Cone-Rod Dystrophy 5

CORD5

Dystrophy, Cone-Rod, Type 5

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Arteriovenous Malformations Of The Brain

Cerebral Arteriovenous Malformation	Intracranial Arteriovenous Malformation
Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To	Intracranial Arteriovenous Malformations
Bavm	Cerebral Arteriovenous Malformations
Intracranial Hemorrhage In Brain Cerebrovascular Malformations	Arteriovenous Malformation Of The Brain, Somatic
Intracranial Avm	Arteriovenous Malformations Cerebral

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Retinal Degeneration

Degeneration Of Retina

Cone-Rod Dystrophy 17

CORD17

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS10579	PITPNM3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PITPNM3	MGD	MGI:2685726
Felis catus	PITPNM3	VGNC	VGNC:64189
Canis familiaris	PITPNM3	VGNC	VGNC:53433
Rattus norvegicus	PITPNM3	RGD	RGD:1308200
Macaca mulatta	PITPNM3	VGNC	VGNC:75842
Bos taurus	PITPNM3	VGNC	VGNC:52807

Name
Email *

	Sorry, but the email address you supplied was invalid.