NBPF3 - NBPF member 3 Gene

Homo sapiens

Also known as AE2

Gene ID: 84224 | Gene type: protein coding

About NBPF3

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:21,436,789-21,484,900 (from NCBI)

This gene has 13 transcripts (splice variants), 14 orthologues and 14 paralogues. Broad expression in testis (RPKM 10.2), thyroid (RPKM 3.5) and 23 other tissues.

Summary

This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of Cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]

NBPF3 Products(10)

mRNA	Protein	Name
NM_001256416.4	NP_001243345.1	neuroblastoma breakpoint family member 3 isoform 2
NM_001256417.4	NP_001243346.1	neuroblastoma breakpoint family member 3 isoform 3
NM_001330381.3	NP_001317310.1	neuroblastoma breakpoint family member 3 isoform 4
NM_001377491.1	NP_001364420.1	neuroblastoma breakpoint family member 3 isoform 4
NM_001377492.1	NP_001364421.1	neuroblastoma breakpoint family member 3 isoform 4
NM_001377493.1	NP_001364422.1	neuroblastoma breakpoint family member 3 isoform 4
NM_001377494.1	NP_001364423.1	neuroblastoma breakpoint family member 3 isoform 4
NM_001377495.1	NP_001364424.1	neuroblastoma breakpoint family member 3 isoform 4
NM_001377496.1	NP_001364425.1	neuroblastoma breakpoint family member 3 isoform 5
NM_032264.6	NP_115640.1	neuroblastoma breakpoint family member 3 isoform 1

NBPF3 Protein Structure

DUF1220

0
100
200
300
400
500
633 a.a.

Protein Preferred Names

Protein Names

neuroblastoma breakpoint family member 3

protein SHIIIa4

Related Diseases

Diseases

Alias

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1	Infantile Epileptic-Dyskinetic Encephalopathy
DEE1	Eiee1
Issx1	Xmesid
X-Linked Infantile Spasm Syndrome 1	X-Linked Infantile Spasm Syndrome
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Developmental And Epileptic Encephalopathy, 1
Infantile Epileptic Dyskinetic Encephalopathy	Infantile Spasm Syndrome, X-Linked 1
West Syndrome, X-Linked	Ohtahara Syndrome, X-Linked
Early Infantile Epileptic Encephalopathy 1	Early Infantile Epileptic Encephalopathy-1
Issx	X-Linked Ohtahara Syndrome
X-Linked West Syndrome	Infantile Spasm Syndrome X-Linked 1
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity	Ohtahara Syndrome X-Linked
West Syndrome X-Linked	Encephalopathy, Epileptic, Early Infantile, Type 1

Microcephaly

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

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-RS09060	NBPF3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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