DLX5 - distal-less homeobox 5 Gene

Homo sapiens

Also known as SHFM1; SHFM1D

Gene ID: 1749 | Gene type: protein coding

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03816	DLX5 Human Pre-designed siRNA Set A		/	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