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PHLDA2 - pleckstrin homology like domain family A member 2 Gene

Also Known as IPL; BRW1C; BWR1C; HLDA2; TSSC3

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 7262

About PHLDA2

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:2,928,273-2,929,420 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 172 orthologues and 2 paralogues. Biased expression in placenta (RPKM 44.3), colon (RPKM 8.6) and 3 other tissues.

Summary

This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and Breast Cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]

PHLDA2 Products (1)

mRNA	Protein	Name
NM_003311.4	NP_003302.1	pleckstrin homology-like domain family A member 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
pleckstrin homology-like domain family A member 2	beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein

PHLDA2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	PHLDA2	Q53GA4	FCHO1	Homo sapiens	A0A0C3SFZ9	Y2H Array	32296183
Intra	PHLDA2	Q53GA4	FCHO1	Homo sapiens	A0A0C3SFZ9	Y2H Prey Pooling	32296183
Intra	PHLDA2	Q53GA4	SSX2	Homo sapiens	Q16385-2	Y2H Prey Pooling	32296183
Intra	PHLDA2	Q53GA4	SSX2	Homo sapiens	Q16385-2	Y2H Array	32296183
Intra	PHLDA2	Q53GA4	OTUB2	Homo sapiens	Q96DC9	Y2H Prey Pooling	32296183
Intra	PHLDA2	Q53GA4	OTUB2	Homo sapiens	Q96DC9	Validated Y2H	32296183
Intra	PHLDA2	Q53GA4	OTUB2	Homo sapiens	Q96DC9	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PHLDA2 Proteins

製品番号	製品名	アクセッション番号	純度
HY-P71202	PHLDA2 Protein, Human (His)	Q53GA4 (M1-P152)	≥ 90%, as determined by reducing SDS-PAGE.

関連疾患

Diseases	Alias
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Esophageal Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma, Esophagus
Hydatidiform Mole, Recurrent, 1	Hydatidiform Mole Gestational Trophoblastic Disease Complete Hydatidiform Mole Hydm HYDM1 Chm Molar Pregnancy Hydatidiform Mole, Complete Hydatid Mole Complete Molar Pregnancy Mole, Hydatidiform, Recurrent, Type 1 Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 2 Classical Hydatidiform Mole
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Image Syndrome IMAGE Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies Image Anomaly Image Association Fetal Growth Retardation Pyle Metaphyseal Dysplasia
Hellp Syndrome	Hemolysis, Elevated Liver Enzymes, Lowered Platelets Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet] Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
Adult Syndrome	Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome Acro Dermato Ungual Lacrimal Tooth Syndrome Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome Adult
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation

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 (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS10443	PHLDA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18713	Phlda2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25200	Phlda2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	PHLDA2	VGNC	VGNC:32836
Rattus norvegicus	PHLDA2	RGD	RGD:1304755
Mus musculus	PHLDA2	MGD	MGI:1202307
Felis catus	PHLDA2	VGNC	VGNC:105832
Others	PHLDA2	NCBI