POGZ - pogo transposable element derived with ZNF domain Gene

Homo sapiens

Also known as MRD37; WHSUS; ZNF635; ZNF280E; ZNF635m

Gene ID: 23126 | Gene type: protein coding

About POGZ

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,402,724-151,459,494 (from NCBI)

This gene has 23 transcripts (splice variants), 131 orthologues, 11 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 11.8), testis (RPKM 9.5) and 25 other tissues.

Summary

The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]

POGZ Products(6)

mRNA	Protein	Name
NM_001194937.2	NP_001181866.1	pogo transposable element with ZNF domain isoform 4
NM_001194938.2	NP_001181867.1	pogo transposable element with ZNF domain isoform 5
NM_001410860.1	NP_001397789.1	pogo transposable element with ZNF domain isoform 6
NM_015100.4	NP_055915.2	pogo transposable element with ZNF domain isoform 1
NM_145796.4	NP_665739.3	pogo transposable element with ZNF domain isoform 3
NM_207171.2	NP_997054.1	pogo transposable element with ZNF domain isoform 2

POGZ Protein Structure

HTH_Tnp_Tc5

DDE_1

0
300
600
900
1200
1410 a.a.

Protein Preferred Names

Protein Names

pogo transposable element with ZNF domain

putative protein product of Nbla00003

Related Diseases

Diseases

Alias

White-Sutton Syndrome

WHSUS	Mrd37
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome	Mental Retardation, Autosomal Dominant 37
Autosomal Dominant Mental Retardation 37	Pogz-Related Intellectual Disability Syndrome

Nail Disease

Nail Diseases	Abnormality Of The Nail
Nail Anomaly

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Hypertelorism

Eyes Wide Apart	Eyes Widely Set
Hypertelorism Of Orbit	Ocular Hypertelorism
Orbital Separation Excessive

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

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Hypothyroidism

Thyroid Diseases	Thyroid Disease
Thyroid Deficiency	Thyroid Insufficiency
Dysfunction Thyroid	Thyroid Dysfunction

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Mosaic Variegated Aneuploidy Syndrome 2

MVA2	Mosaic Variegated Aneuploidy Syndrome, Type 2

Autosomal Dominant Intellectual Developmental Disorder 40

Autosomal Dominant Non-Syndromic Intellectual Disability 40	Autosomal Dominant Mental Retardation 40
Mrd40	Mental Retardation, Autosomal Dominant 40

Mosaic Variegated Aneuploidy Syndrome 1

Mva Syndrome	MVA1
Mosaic Variegated Aneuploidy Syndrome, Type 1	Mosaic Variegated Aneuploidy Syndrome
Congenital Chromosomal Disease

Nescav Syndrome

NESCAVS	Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment
Mrd9	Intellectual Disability, Autosomal Dominant 9
Mental Retardation, Autosomal Dominant 9, Formerly	Mrd9, Formerly
Autosomal Dominant Intellectual Disability 9	Autosomal Dominant Non-Syndromic Intellectual Disability 9
Mental Retardation, Autosomal Dominant 9

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Treacher Collins Syndrome 1

Treacher Collins Syndrome	Mandibulofacial Dysostosis
Treacher Collins-Franceschetti Syndrome	Tcof
Tcs	Mfd1
Franceschetti-Klein Syndrome	TCS1
Franceschetti Syndrome	Franceschetti-Zwahlen-Klein Syndrome
Zygoauromandibular Dysplasia	Treacher-Collins Syndrome
Mandibulofacial Dysostosis Without Limb Anomalies	Bilateral And Symmetric Oto-Mandibular Dysplasia

X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

Mrxs13	Lindsay-Burn Syndrome
Ppm-X	Ppm-X Syndrome
Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism	Mental Retardation, X-Linked, Syndromic 13
X-Linked Mental Retardation 79	X-Linked Mental Retardation With Spasticity
Intellectual Deficit, X-Linked - Psychosis - Macroorchidism	Intellectual Disability Psychosis Macroorchidism
Intellectual Disability With Psychosis, Pyramidal Signs, And Macroorchidism	Intellectual Disability, X-Linked, Syndromic 13
Ppmx	X-Linked Mental Retardation, Syndromic 13

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation	Autosomal Dominant Non-Syndromic Mental Retardation
Autosomal Dominant Non-Syndromic Intellectual Disability	Mental Retardation, Autosomal Dominant

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Helsmoortel-Van Der Aa Syndrome

HVDAS	Mrd28
Adnp Syndrome	Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder
Mental Retardation, Autosomal Dominant 28	Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
Mental Retardation, Autosomal Dominant 28, Formerly	Mrd28, Formerly
Autosomal Dominant Mental Retardation 28	Adnp-Related Intellectual Disability And Autism Spectrum Disorder
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder

Atrial Septal Defect 5

ASD5	Atrial Heart Septal Defect 5
Septal Defect, Atrial, Type 5

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome	Mva Syndrome
Mosaic Variegated Aneuplody Microcephaly Syndrome	Warburton Anyane Yeboa Syndrome

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Syndromic Intellectual Disability

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS10815	POGZ Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	POGZ	VGNC	VGNC:76067
Mus musculus	POGZ	MGD	MGI:2442117
Felis catus	POGZ	VGNC	VGNC:64282
Rattus norvegicus	POGZ	RGD	RGD:1309980
Canis familiaris	POGZ	VGNC	VGNC:44770
Bos taurus	POGZ	VGNC	VGNC:33109

Name
Email *

	Sorry, but the email address you supplied was invalid.