1. Gene
  2. PHLDA2 - pleckstrin homology like domain family A member 2 Gene

PHLDA2 - pleckstrin homology like domain family A member 2 Gene

中文名称:pleckstrin 同源性样域家族 A 成员 2

种属: Homo sapiens

同用名: IPL; BRW1C; BWR1C; HLDA2; TSSC3

基因 ID: 7262 | 基因类型: protein coding

关于 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.

功能概要

该基因位于染色体 11p15.5 上的一簇印记基因中,被认为是重要的抑癌基因区域。该区域的改变可能与 Beckwith-Wiedemann 综合征、肾母细胞瘤、横纹肌肉瘤、肾上腺皮质癌以及肺癌、卵巢癌和乳腺癌有关。该基因已被证明是印记的,优先从胎盘和肝脏中的母体等位基因表达。[RefSeq 提供,2010 年 10 月]

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 基因产物(1)

mRNA Protein Name
NM_003311.4 NP_003302.1 pleckstrin homology-like domain family A member 2
蛋白主名 其他名称

pleckstrin homology-like domain family A member 2

beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein

重组 PHLDA2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71202 PHLDA2 Protein, Human (His) Q53GA4 (M1-P152) ≥95%

关联疾病

疾病名称 别名
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

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

直系同源

种属 基因名 来源 基因 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