Format

Send to:

Choose Destination

DLX6 distal-less homeobox 6 [ Homo sapiens (human) ]

Gene ID: 1750, updated on 21-Apr-2019

Summary

Official Symbol
DLX6provided by HGNC
Official Full Name
distal-less homeobox 6provided by HGNC
Primary source
HGNC:HGNC:2919
See related
Ensembl:ENSG00000006377 MIM:600030
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
Summary
This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 2.2), placenta (RPKM 2.1) and 5 other tissues See more
Orthologs

Genomic context

See DLX6 in Genome Data Viewer
Location:
7q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (97005978..97011040)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (96635290..96640352)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 252, pseudogene Neighboring gene DLX6 antisense RNA 1 Neighboring gene VISTA enhancer hs298 Neighboring gene distal-less homeobox 5 Neighboring gene succinate dehydrogenase complex assembly factor 3 Neighboring gene high mobility group box 3 pseudogene 21

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

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-05-14)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-05-14)

ClinGen Genome Curation Page

Pathways from BioSystems

  • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
    MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125282, MGC125283, MGC125284, MGC125285

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure formation involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
head development IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
homeobox protein DLX-6
Names
distal-less homeo box 6

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.

mRNA and Protein(s)

  1. NM_005222.4NP_005213.3  homeobox protein DLX-6

    See identical proteins and their annotated locations for NP_005213.3

    Status: REVIEWED

    Source sequence(s)
    AC004774, AK094086, BU616500
    Consensus CDS
    CCDS47647.2
    UniProtKB/Swiss-Prot
    P56179
    Related
    ENSP00000428480.2, ENST00000518156.3
    Conserved Domains (2) summary
    COG5576
    Location:119231
    COG5576; Homeodomain-containing transcription factor [Transcription]
    pfam00046
    Location:170223
    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.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    97005978..97011040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center