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DLX5 distal-less homeobox 5 [ Homo sapiens (human) ]

Gene ID: 1749, updated on 5-Dec-2018

Summary

Official Symbol
DLX5provided by HGNC
Official Full Name
distal-less homeobox 5provided by HGNC
Primary source
HGNC:HGNC:2918
See related
Ensembl:ENSG00000105880 MIM:600028
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
SHFM1D
Summary
This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
Expression
Biased expression in endometrium (RPKM 4.3), placenta (RPKM 4.0) and 9 other tissues See more
Orthologs

Genomic context

See DLX5 in Genome Data Viewer
Location:
7q21.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (97020390..97024831, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (96649702..96654143, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene DLX6 antisense RNA 1 Neighboring gene VISTA enhancer hs298 Neighboring gene distal-less homeobox 6 Neighboring gene succinate dehydrogenase complex assembly factor 3 Neighboring gene uncharacterized LOC107984034 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Split-hand/foot malformation 1 with sensorineural hearing loss
MedGen: C1857344 OMIM: 220600 GeneReviews: Not available
Compare labs

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...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
anatomical structure formation involved in morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anatomical structure formation involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to BMP stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endochondral ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
face morphogenesis IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
interneuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
olfactory bulb interneuron differentiation IEA
Inferred from Electronic Annotation
more info
 
olfactory pit development IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation 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 
positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
homeobox protein DLX-5
Names
distal-less homeo box 5
split hand/foot malformation type 1 with sensorineural hearing loss

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_009220.1 RefSeqGene

    Range
    5001..9436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005221.6NP_005212.1  homeobox protein DLX-5

    See identical proteins and their annotated locations for NP_005212.1

    Status: REVIEWED

    Source sequence(s)
    BC006226, DB280023
    Consensus CDS
    CCDS5647.1
    UniProtKB/Swiss-Prot
    P56178
    UniProtKB/TrEMBL
    Q53Y73
    Related
    ENSP00000222598.4, ENST00000222598.5
    Conserved Domains (2) summary
    pfam00046
    Location:140193
    Homeobox; Homeobox domain
    pfam12413
    Location:32118
    DLL_N; Homeobox protein distal-less-like N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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
    97020390..97024831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250185.3XP_005250242.1  homeobox protein DLX-5 isoform X1

    Conserved Domains (1) summary
    pfam00046
    Location:1265
    Homeobox; Homeobox domain
  2. XM_017011803.1XP_016867292.1  homeobox protein DLX-5 isoform X1

    Conserved Domains (1) summary
    pfam00046
    Location:1265
    Homeobox; Homeobox domain
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