NBPF3 - NBPF member 3 Gene

Also Known as AE2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84224

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

DUF1220: Repeat of unknown function (DUF1220) (236 - 297)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (322 - 385)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (394 - 460)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (469 - 535)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (544 - 610)

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  • 600
  • 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

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 Set / Unkown