DLX5 - distal-less homeobox 5 Gene

Also Known as SHFM1; SHFM1D

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1749

About DLX5

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:97,020,396-97,024,831 (from NCBI)

This gene has 3 transcripts (splice variants), 210 orthologues, 9 paralogues and is associated with 5 phenotypes. Biased expression in endometrium (RPKM 4.3), placenta (RPKM 4.0) and 9 other tissues.

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]

DLX5 Products (1)

mRNA	Protein	Name
NM_005221.6	NP_005212.1	homeobox protein DLX-5

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	19497851	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell population proliferation	IDA IDA: Inferred from direct assay	19497851	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19497851	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLX5 Protein Structure

DLL_N

Homeobox

0
100
200
289 a.a.

Protein Preferred Names	Protein Names
homeobox protein DLX-5	distal-less homeo box 5

DLX5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82597	DLX5 Antibody (YA2342)	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss SHFM1D Deafness, Congenital, With Split Hands And Feet Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss Congenital Deafness With Split Hands And Feet Split Hand-Split Foot-Deafness Syndrome Split Hand-Split Foot-Hearing Loss Syndrome Congenital Deafness And Split Hands And Feet Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand/Foot Malformation 1	Ectrodactyly Split Hand-Foot Malformation 1 SHFM1 Shfd1 Split-Hand Deformity Split-Hand/Foot Malformation 1 With Or Without Deafness Split-Hand/Foot Deformity 1 Ecd Split Hand/Foot Malformation Type 1 Split Hand Foot Deformity 1 Split-Hand/Foot Malformation
Isolated Split Hand-Split Foot Malformation	Ectrodactyly Shfm Split Hand Foot Malformation Split-Hand/Foot Malformation Split Hand Foot Deformity 1 Split Hand Foot Deformity
Split Hand-Foot Malformation	Ectrodactyly Split-Hand/Foot Malformation Lobster-Claw Deformity Split-Hand Deformity Split Hand Foot Malformation Shfm Split Hand Foot Deformity Split Hand Foot Deformity 1
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3 EEC3 Eec Syndrome 3 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Type 3
Split-Hand/Foot Malformation 4	SHFM4 Split Hand-Foot Malformation 4 Split-Hand/Foot Malformation, Type 4
Trichodentoosseous Syndrome	Tricho-Dento-Osseous Syndrome Tdo Syndrome Trichodontoosseous Syndrome TDO Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
Split-Hand/Foot Malformation 3	SHFM3 Split Hand-Foot Malformation 3 Chromosome 10q24 Duplication Syndrome Shsf3 Limb Deficiencies, Distal, With Micrognathia Split-Hand/Foot Malformation 3, Gene Duplication Syndrome Distal Limb Deficiencies With Micrognathia Limb Deficiencies Distal With Micrognathia Buttiens Fryns Syndrome Distal Limb Deficiencies-Micrognathia Syndrome 10q24 Microduplication Syndrome Buttiens-Fryns Syndrome Split-Hand/Foot Malformation, Type 3, Gene Duplication Syndrome
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Split-Hand/Foot Malformation 6	Split Hand-Foot Malformation 6 SHFM6 Ectrodactyly, Autosomal Recessive Ectrodactyly Autosomal Recessive Split-Hand/Foot Malformation, Type 6
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hay-Wells Syndrome Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome Aec Syndrome AEC Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome Seres-Santamaria Arimany Muniz Syndrome Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects Ankyloblepharon Ectodermal Defects Cleft Lip/Palate Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate Rapp-Hodgkin Syndrome
Fibrosarcomatous Osteosarcoma	Fibroblastic Osteosarcoma Fibrosarcomatous Osteogenic Sarcoma
Syngnathia	Cleft Palate-Lateral Synechia Syndrome Cpls Syndrome Cleft Palate Lateral Synechia Syndrome
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Eec Syndrome Rudiger Syndrome 1 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 EEC1 Eec Syndrome 1 Eec Syndrome-1 Walker-Clodius Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome Eec Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly-Cleft Lip/Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Ectrodactyly-Cleft Lip-Palate Syndrome Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Agnathia-Otocephaly Complex	Otocephaly Holoprosencephaly-Agnathia Dysgnathia Complex Agnathia-Holoprosencephaly AGOTC Agnathia-Holoprosencephaly-Situs Inversus Syndrome Dysgnathia Complex Agnathia-Holoprosencephaly Cervical Auricle
Orofacial Cleft	Cleft, Orofacial
Parietal Foramina	Enlarged Parietal Foramina Hereditary Cranium Bifidum Symmetric Parietal Foramina Catlin Marks Foramina Parietalia Permagna Caitlin Marks Cranium Bifidum Cranium Bifidum Occultum Fenestrae Parietals Symmetricae Fpp Giant Parietal Foramina Pfm Fenestrae Parietales Symmetricae Foramina, Parietal
Branchiootic Syndrome	Bo Syndrome Branchiootic Dysplasia Bor Bo Syndrome 1 Bos1 Branchiootic Syndrome 1
Rapp-Hodgkin Syndrome	RHS Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate Ectodermal Dysplasia, Rapp-Hodgkin Type Rapp-Hodgkin Ectodermal Dysplasia Syndrome Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type Edrh Rapp-Hodgkin Ectodermal Dysplasia Orofacial Cleft 8
Bone Development Disease
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03816	DLX5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19892	Dlx5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24208	Dlx2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26392	Dlx5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DLX5	VGNC	VGNC:28101
Macaca mulatta	DLX5	VGNC	VGNC:108395
Rattus norvegicus	DLX5	RGD	RGD:2506
Felis catus	DLX5	VGNC	VGNC:102577
Canis familiaris	DLX5	VGNC	VGNC:39992
Mus musculus	DLX5	MGD	MGI:101926
Others	DLX5	NCBI