PAX2 - paired box 2 Gene

Also Known as FSGS7; PAPRS; PAX-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5076

About PAX2

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,735,396-100,829,944 (from NCBI)

This gene has 10 transcripts (splice variants), 257 orthologues, 50 paralogues and is associated with 7 phenotypes. Restricted expression toward kidney (RPKM 4.2).

Summary

PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]

PAX2 Products (7)

mRNA	Protein	Name
NM_000278.5	NP_000269.3	paired box protein Pax-2 isoform b
NM_001304569.2	NP_001291498.1	paired box protein Pax-2 isoform f
NM_001374303.1	NP_001361232.1	paired box protein Pax-2 isoform g
NM_003987.5	NP_003978.3	paired box protein Pax-2 isoform a
NM_003988.5	NP_003979.2	paired box protein Pax-2 isoform c
NM_003989.5	NP_003980.3	paired box protein Pax-2 isoform d
NM_003990.5	NP_003981.3	paired box protein Pax-2 isoform e

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables DNA binding	IDA IDA: Inferred from direct assay	24676634	GOA
enables DNA-binding transcription factor activity	IMP IMP: Inferred from mutant phenotype	11940591	GOA
enables cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	19118900	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9178767	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	9178767	GOA
enables transcription factor binding	IPI IPI: Inferred from physical interaction	24676634	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in branching involved in ureteric bud morphogenesis	IEP IEP: Inferred from expression pattern	1337742	GOA
involved in metanephric epithelium development	IEP IEP: Inferred from expression pattern	7856737	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	19118900	GOA
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	10980123	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	17357786	GOA
involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	10980123	GOA
involved in negative regulation of reactive oxygen species metabolic process	IDA IDA: Inferred from direct assay	17357786	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	16368682	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	11940591	GOA
involved in positive regulation of epithelial cell proliferation	IDA IDA: Inferred from direct assay	17357786	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16735463	GOA
involved in regulation of metanephros size	IMP IMP: Inferred from mutant phenotype	17513325	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in centriolar satellite	IDA IDA: Inferred from direct assay	18000879	GOA
located in microtubule organizing center	IDA IDA: Inferred from direct assay	18000879	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19048125	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

PAX2 Protein Structure

PAX

Pax2_C

0
100
200
300
417 a.a.

Protein Preferred Names	Protein Names
paired box protein Pax-2	paired box homeotic gene 2

PAX2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	PAX2	Q02962	LMX1B	Homo sapiens	O60663-2	Anti Tag CoIP	15785774
Intra	PAX2	Q02962	LMX1B	Homo sapiens	O60663-2	Y2H	15785774

Cross: Cross-species interaction Intra: Intraspecies interaction

PAX2 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P83073	PAX2 Antibody (YA2818)	WB, IHC-P, FC	Human, Mouse
HY-P85869	PAX2 Antibody (YA5561)	IHC-P, ICC/IF, ELISA	Human

Related Diseases

Diseases	Alias
Papillorenal Syndrome	Renal Coloboma Syndrome Coloboma Of Optic Nerve With Renal Disease Renal-Coloboma Syndrome Optic Nerve Coloboma With Renal Disease Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies Renal-Coloboma Syndrome With Macular Abnormalities Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities Cakut With Or Without Ocular Abnormalities PAPRS Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease Coloboma-Ureteral-Renal Syndrome Oncr Optic Nerve Coloboma Renal Syndrome Rcs Papillo-Renal Syndrome Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
Focal Segmental Glomerulosclerosis 7	FSGS7 Glomerulosclerosis, Focal Segmental, 7 Glomerulosclerosis, Focal Segmental, Type 7
Pax2-Related Disorder	Papillorenal Syndrome Renal Coloboma Syndrome
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Genetic Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Genetic Srns Hereditary Steroid-Resistant Nephrotic Syndrome Familial Idiopathic Nephrotic Syndrome Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive Srn1
Renal Hypoplasia
Renal Hypoplasia, Bilateral
Oligomeganephronia	Oligomeganephronic Renal Hypoplasia Oligomeganephronic Hypoplasia Of Kidney
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Scleral Staphyloma	Scleral Ectasia Staphyloma Of Sclera
Denys-Drash Syndrome	Drash Syndrome DDS Nephropathy, Wilms Tumor, And Genital Anomalies Wilms Tumor And Pseudohermaphroditism Wilms Tumor And Pseudo- Or True Hermaphroditism Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor Wilms Tumor-Dsd Syndrome Wilms Tumor-Disorder Of Sex Development Syndrome
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Nail-Patella Syndrome	Turner-Kieser Syndrome Onychoosteodysplasia Fong Disease NPS Hereditary Onycho-Osteodysplasia Nps1 Hereditary Onychoostedysplasia Iliac Horn Syndrome Nail Patella Syndrome Turner-Kiser Syndrome Arthro-Onychodysplasia Nps 1 Osteo-Onychodysplasia Hereditary Osteo-Onychodysplasia Osterreicher Syndrome Pelvic Horn Syndrome Österreicher-Turner Syndrome Nps - [Nail-Patella Syndrome] Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
Multicystic Dysplastic Kidney	Multicystic Renal Dysplasia Multicystic Kidney Dysplasia Mcdk Multiple Congenital Cysts Of Kidney Developmental Multicystic Kidney
Diffuse Mesangial Sclerosis	Familial Mesangial Sclerosis Mesangial Sclerosis, Diffuse Dms Diffuse Isolated Mesangial Sclerosis Isolated Diffuse Mesangial Sclerosis Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis
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
Branchiootorenal Syndrome	Branchio-Oto-Renal Syndrome Bor Syndrome Branchiootorenal Dysplasia Melnick-Fraser Syndrome Branchiootorenal Spectrum Disorders Branchio-Otorenal Dysplasia Branchio Oto Renal Syndrome Branchiootorenal/Branchiootic Syndrome Bo Syndrome Bor Bos Branchio-Otorenal Syndrome Branchiootic Syndrome Branchiootorenal Syndrome Branchiootic Syndrome 1
Nephrogenic Adenoma	Nephrogenic Metaplasia
Rete Testis Adenoma
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Renal Hypodysplasia/Aplasia 1	Renal Agenesis Renal Adysplasia Renal Aplasia RHDA1 Hereditary Renal Aplasia Hra Hereditary Urogenital Adysplasia Hypodysplasia/Aplasia, Renal, Type 1 Congenital Absence Of Kidneys Syndrome Congenital Absence Of Kidney Aplastic Kidney
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Nephrogenic Adenoma Of Urinary Bladder	Nephrogenic Adenoma Of The Urinary Bladder
Wolffian Duct Adenoma	Benign Mesonephroma Mesonephric Adenoma Mesonephroma, Benign Fatwo Female Adnexal Tumor Of Probable Wolffian Origin Wat Wolffian Adenoma Wolffian Adnexal Tumor Wolffian Tumor
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Ureterocele
Hemangioblastoma	Capillary Hemangioblastoma
Bladder Benign Neoplasm
Nasal Cavity Olfactory Neuroblastoma	Olfactory Neuroblastoma Of The Nasal Cavity
Congenital Anomalies Of Kidney And Urinary Tract 2	CAKUT2 Ureteropelvic Junction Obstruction Multicystic Renal Dysplasia, Bilateral Pelviureteric Junction Obstruction Pujo Hydronephrosis Due To Pujo Upjo Mcrd Congenital Anomalies Of The Kidney And Urinary Tract 2 Mrd Pelvi-Ureteric Junction Obstruction Kidney And Urinary Tract, Anomalies, Congenital, Type 2 Obstruction Of Pelviureteric Junction
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Wilms Tumor 5	Wilms Tumor WT5 Wilms Tumor Susceptibility-5 Wilms Tumor And Radial Bilateral Aplasia Nephroblastoma Wilms' Tumor Wilms Tumor, Susceptibility To Wtsl Bilateral Radial Aplasia With Wilms Tumor Embryonal Adenosarcoma Embryonal Nephroma Kidney Wilms Tumor Kidney, Adenomyosarcoma, Embryonal Kidney, Carcinosarcoma, Embryonal Kidney, Embryoma Kidney, Embryonal Mixed Tumor Nephroma Renal Adenosarcoma Renal Cancer, Wilms Renal Wilms Tumor Tumor, Wilms Hereditary Susceptibility To Wilms Tumor 5
Epididymal Neoplasm	Neoplasm Of Epididymis
Endometrial Hyperplasia
Endosalpingiosis
Oncocytoma	Oxyphilic Adenoma Follicular Adenoma, Oxyphilic Cell Adenoma, Oxyphilic Hurthle Cell Tumor Oncocytic Neoplasm
Bilateral Renal Aplasia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Urethra Clear Cell Adenocarcinoma	Clear Cell Adenocarcinoma Of The Urethra Urethral Clear Cell Adenocarcinoma
Urethra Adenocarcinoma	Adenocarcinoma Of The Urethra Urethral Adenocarcinoma
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Murcs Association Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2 Mrkh Syndrome Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 MURCS Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina Atypical Mrkh Syndrome Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii Mrkh, Type Ii Mullerian Duct Aplasia, Unilateral Renal Aplasia, And Cervicothoracic Somite Dysplasia Klippel-Feil Deformity - Conductive Deafness - Absent Vagina Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia
Nephrogenic Adenoma Of The Urethra	Nephrogenic Adenoma Of Urethra
Potter'S Syndrome	Potter Sequence Potter Syndrome Oligohydramnios Sequence Congenital Absence Of Kidneys Syndrome
Endometrium Carcinoma In Situ	Carcinoma In Situ Of Endometrium Endometrial Carcinoma In Situ
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Mechanical Ectropion
Cervix Endometriosis	Endometriosis Of Cervix Cervical Endometriosis
Retinal Detachment	Retinal Detachments Rhegmatogenous Retinal Detachment Ruptured Retina With Detachment Retinal Hole With Detachment
Epididymis Adenocarcinoma	Adenocarcinoma Of The Epididymis
Epididymis Cancer	Malignant Tumor Of Epididymis Malignant Epididymal Tumor Malignant Neoplasm Of Epididymis Neoplasm Of Epididymis
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Hypoparathyroidism-Deafness-Renal Disease Syndrome	Barakat Syndrome Hypoparathyroidism, Deafness, Renal Disease Syndrome Hdr Syndrome Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Ureteral Disease	Ureteral Diseases Ureteral Disorders Disorder Of Ureter
Kidney Benign Neoplasm	Renal And Ureteral Tumor Benign Kidney Neoplasm
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Prune Belly Syndrome	Eagle-Barrett Syndrome Abdominal Muscle Deficiency Syndrome PBS Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism Egbrs Eagle-Barret Syndrome Urethral Obstruction Sequence Obrinsky Syndrome Triad Syndrome Obrisnksy Syndrome Euos Early Urethral Obstruction Sequence Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism Abdomen Muscle Deficiency Syndrome Abdomen Muscular Deficiency Syndrome Abdominal Muscular Deficiency Syndrome Abdominal Muscle Aplasia Syndrome
Mullerian Aplasia And Hyperandrogenism	Mullerian Duct Failure And Hyperandrogenism Wnt4 Deficiency Müllerian Aplasia And Hyperandrogenism Biason-Lauber Syndrome Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome Mayer-Rokitansky-Küster-Hauser-Like Syndrome Müllerian Duct Failure Wnt4 Müllerian Aplasia Wnt4 Müllerian Aplasia And Ovarian Dysfunction MULLAPL Wnt4 Mullerian Aplasia And Ovarian Dysfunction
Metanephric Adenoma
Mayer-Rokitansky-Kuster-Hauser Syndrome	Mrkh Syndrome Rokitansky Syndrome Mullerian Aplasia Mrkh Anomaly Congenital Absence Of Uterus And Vagina Congenital Absence Of The Uterus And Vagina Genital Renal Ear Syndrome Mayer-Rokitansky-Küster-Hauser Syndrome Mullerian Dysgenesis Müllerian Agenesis Rokitansky Kuster Hauser Syndrome MRKH Mullerian Aplasia/Dysgenesis Von Mayer-Rokitansky-Kuster Anomaly Mrk Anomaly Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida Cauv Mullerian Agenesis Aplasia Of The Mullerian Ducts Mullerian Duct Failure Müllerian Aplasia Rokitansky-Kuster-Hauser Syndrome RKH SYNDROME
Collecting Duct Carcinoma	Kidney Medullary Carcinoma Renal Medullary Carcinoma Bdc Bellini Carcinoma Bellini Duct Carcinoma Cdc Collecting Duct Carcinoma Of The Kidney Renal Cell Adenocarcinoma Carcinoma Of Renal Collecting Duct Renal Carcinoma, Collecting Duct Type Renal Cell Carcinoma Bellini'S Duct Carcinoma Renal Collecting Duct Carcinoma Adenocarcinoma Of Kidney
Fanconi Renotubular Syndrome 1	Renal Fanconi Syndrome Adult Fanconi Syndrome FRTS1 Fanconi Renotubular Syndrome Frts Rfs Fanconi Syndrome Without Cystinosis Luder-Sheldon Syndrome
Urethral Benign Neoplasm	Urethral Neoplasms Neoplasm Of Urethra Neoplasm. Urethra Urethral Neoplasm Urethral Carcinoma Malignant Neoplasm Of Urethra
Renal Adenoma	Renal Cell Adenoma
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Familial Juvenile Hyperuricemic Nephropathy Mckd2 Familial Juvenile Hyperuricemic Nephropathy Type 1 Fjhn Medullary Cystic Kidney Disease 2 Uromodulin-Associated Kidney Disease Medullary Cystic Kidney Disease Type 2 ADTKD1 Hnfj1 Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria Adtkd-Umod Familial Juvenile Hyperuricemic Nephropathy 1 Umod-Related Adtkd Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease Hyperuricemic Nephropathy, Familial Juvenile, 1 Gouty Nephropathy, Familial Juvenile Medullary Cystic Kidney Disease 2, Autosomal Dominant Admckd2 Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations Adtkd Due To Umod Mutations Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Autosomal Dominant Medullary Cystic Kidney Disease Type 2 Umod-Associated Kidney Disease Uromodulin Kidney Disease Familial Gout-Kidney Disease Familial Gouty Nephropathy Umak Umod-Related Kidney Disease Uromodulin Storage Disease Fjhn1 Gouty Nephropathy Familial Juvenile Nephropathy Familial With Gout Hyperuricemic Nephropathy, Familial Juvenile 1 Hyperuricemic Nephropathy, Familial Juvenile Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1 Kidney Disease, Cystic, Medullary, Type 2 Medullary Cystic Kidney Disease Type Ii Familial Juvenile Gout
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Clear Cell Adenocarcinoma	Mesonephroma Water-Clear Cell Adenocarcinoma Adenocarcinoma, Clear Cell Malignant Mesonephroma Mesonephroid Clear Cell Carcinoma Mesonephroma, Malignant Water-Clear Cell Carcinoma Wolffian Duct Neoplasm Adenocarcinoma Clear Cell Mesonephric Tumor
Frasier Syndrome	FS
Urinary Tract Obstruction	Obstructive Uropathy Urinary Obstruction Urologic Diseases
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Vacterl Association	Vater Association Vater Syndrome
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Fallopian Tube Endometrioid Adenocarcinoma	Endometrioid Carcinoma Of The Fallopian Tube Fallopian Tube Endometrioid Cancer Fallopian Tube Endometrioid Neoplasm Fallopian Tube Endometrioid Tumor
Ovarian Seromucinous Carcinoma	Mixed Epithelial Carcinoma Of Ovary Ovary Mixed Epithelial Carcinoma
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Autosomal Dominant Intellectual Developmental Disorder 31	Autosomal Dominant Non-Syndromic Intellectual Disability 31 Autosomal Dominant Mental Retardation 31 Mrd31
Persistent Hyperplastic Primary Vitreous	Congenital Retinal Detachment Ncrna Disease Non-Syndromic Congenital Retinal Non-Attachment Pfvs Phpv Persistent Fetal Vasculature Syndrome
Bladder Clear Cell Adenocarcinoma	Bladder Mesonephric Adenocarcinoma Clear Cell Adenocarcinoma Of Bladder
Oligohydramnios	Oligohydramnios - Delivered Antepartum Oligohydramnios Delivered Oligohydramnios Oligohydramnios, Antepartum Condition Or Complication Deficient Liquor Oligohydramnios, Unspecified Trimester Reduced Liquor Volume
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Serous Cystadenocarcinoma	Serous Adenocarcinoma Cystadenocarcinoma, Serous Serous Carcinoma Cystadenocarcinoma Serous
Keratitis, Hereditary	Keratitis Autosomal Dominant Keratitis Hereditary Keratitis Dominantly Inherited Keratitis Keratitis Hereditary KERH
Hydronephrosis	Stricture Of Ureteropelvic Junction With Hydronephrosis Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Wilson-Turner Syndrome WTS Mrxs6 X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome Mrxswt Wilson-Turner X-Linked Mental Retardation Syndrome Mental Retardation, X-Linked, Syndromic 6 Mental Retardation, X-Linked, With Gynecomastia And Obesity Intellectual Disability, X-Linked, Syndromic 6 Intellectual Disability, X-Linked, With Gynecomastia And Obesity Wilson Turner Intellectual Disability Syndrome X-Linked Intellectual Disability - Gynecomastia - Obesity
Renal Cell Carcinoma, Papillary, 1	Papillary Renal Cell Carcinoma Hereditary Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma, Sporadic Papillary Renal Cell Adenocarcinoma RCCP RCCP1 Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Papillary, 1, Familial And Somatic Chromophil Carcinoma Of Kidney Papillary Kidney Carcinoma Sporadic Papillary Renal Cell Carcinoma Chromophil Renal Cell Carcinoma Papillary Renal Carcinoma, Malignant - Papillary Renal Cell Carcinoma, Bilateral - Papillary Renal Cell Carcinoma, Familial - Papillary Renal Cell Carcinoma, Multiple - Papillary Renal Cell Carcinoma, Sporadic - Renal Adenocarcinoma Chromophil Rcc Hprcc Renal Cell Carcinoma Papillary Chromophilic Renal Cell Carcinoma Prcc Carcinoma, Renal Cell, Papillary, Type 1 Type 1 Papillary Renal Cell Carcinoma Renal Cell Carcinoma Hereditary Papillary Renal Carcinoma
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
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

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 (5)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-124838	EG1		98.26%	Unkown
HY-RS10089	PAX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174561	Human PAX2 mRNA		/	Unkown
HY-RS22268	Pax2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28791	Pax2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PAX2	VGNC	VGNC:68697
Canis familiaris	PAX2	VGNC	VGNC:44276
Rattus norvegicus	PAX2	RGD	RGD:1305568
Macaca mulatta	PAX2	VGNC	VGNC:75761
Bos taurus	PAX2	VGNC	VGNC:32596
Mus musculus	PAX2	MGD	MGI:97486
Others	PAX2	NCBI