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NKX3-2 NK3 homeobox 2 [ Homo sapiens (human) ]

Gene ID: 579, updated on 17-Jun-2019

Summary

Official Symbol
NKX3-2provided by HGNC
Official Full Name
NK3 homeobox 2provided by HGNC
Primary source
HGNC:HGNC:951
See related
Ensembl:ENSG00000109705 MIM:602183
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMMD; BAPX1; NKX3B; NKX3.2
Summary
This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]
Expression
Biased expression in spleen (RPKM 1.5), ovary (RPKM 0.7) and 10 other tissues See more
Orthologs

Genomic context

See NKX3-2 in Genome Data Viewer
Location:
4p15.33
Exon count:
2
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (13540830..13544508, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (13542454..13546114, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory regions 1971 and 3941 Neighboring gene uncharacterized LOC105374495 Neighboring gene long intergenic non-protein coding RNA 1097 Neighboring gene long intergenic non-protein coding RNA 1096 Neighboring gene biorientation of chromosomes in cell division 1 like 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spondylo-megaepiphyseal-metaphyseal dysplasia
MedGen: C2750066 OMIM: 613330 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
NHGRI GWA Catalog

Pathways from BioSystems

  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138171

Gene Ontology Provided by GOA

Process Evidence Code Pubs
animal organ formation IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system development IEA
Inferred from Electronic Annotation
more info
 
intestinal epithelial cell development IEA
Inferred from Electronic Annotation
more info
 
middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
pancreas development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
spleen development IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
homeobox protein Nkx-3.2
Names
bagpipe homeobox protein homolog 1
homeobox protein NK-3 homolog B

NCBI Reference Sequences (RefSeq)

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

  1. NG_023192.1 RefSeqGene

    Range
    5001..8661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001189.4NP_001180.1  homeobox protein Nkx-3.2

    See identical proteins and their annotated locations for NP_001180.1

    Status: REVIEWED

    Source sequence(s)
    AC006445, BC111966
    Consensus CDS
    CCDS3410.1
    UniProtKB/Swiss-Prot
    P78367
    Related
    ENSP00000371875.5, ENST00000382438.5
    Conserved Domains (1) summary
    pfam00046
    Location:209262
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    13540830..13544508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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