NBPF20 NBPF member 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NBPF20provided by HGNC
Official Full Name: NBPF member 20provided by HGNC
Primary source: HGNC:HGNC:32000
See related: Ensembl:ENSG00000162825 MIM:614007; AllianceGenome:HGNC:32000
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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. Gene copy number variations in the 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, Mar 2014]
Expression: Ubiquitous expression in testis (RPKM 6.6), skin (RPKM 5.6) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 1q21.1

Exon count:: 145

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (145289900..145425603, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (144414641..144542479, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1 (PATCHES)	NW_003871055.3 (2105313..2241016, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66976 (e-PCR)
- UniSTS:88368

G34947 (e-PCR)
- UniSTS:117658

RH80466 (e-PCR)
- UniSTS:92643

AL033815 (e-PCR)
- UniSTS:93680

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neuroblastoma breakpoint family member 20

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034048.2 RefSeqGene

Range

5000..140598

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278267.1 → NP_001265196.1 neuroblastoma breakpoint family member 20 isoform 2

Status: VALIDATED

Source sequence(s)

AC245014

UniProtKB/Swiss-Prot

P0DPF2

UniProtKB/TrEMBL

H7BY70

Conserved Domains (1) summary

pfam06758
Location:4628 → 4693

DUF1220; Repeat of unknown function (DUF1220)
NM_001397211.1 → NP_001384140.1 neuroblastoma breakpoint family member 20 isoform 1

Status: VALIDATED

Source sequence(s)

AC239860, AC245014

Consensus CDS

CCDS91033.1

UniProtKB/TrEMBL

A0A8V8TMC1, H7BY70

Related

ENSP00000513969.1, ENST00000698833.1

RNA

NR_189122.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC239860, AC245014
NR_189123.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC239860, AC245014

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

145289900..145425603 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047445970.1 → XP_047301926.1 neuroblastoma breakpoint family member 20 isoform X1
XM_047446015.1 → XP_047301971.1 neuroblastoma breakpoint family member 20 isoform X2