ALX4 - ALX homeobox 4 Gene

Also Known as CRS5; FND2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 60529

About ALX4

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:44,260,440-44,310,139 (from NCBI)

This gene has 1 transcript (splice variant), 257 orthologues, 50 paralogues and is associated with 9 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]

ALX4 Products (1)

mRNA	Protein	Name
NM_021926.4	NP_068745.2	homeobox protein aristaless-like 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in hair follicle development	IMP IMP: Inferred from mutant phenotype	19692347	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	19692347	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

ALX4 Protein Structure

Homeobox

OAR

0
100
200
300
411 a.a.

Protein Preferred Names	Protein Names
homeobox protein aristaless-like 4	aristaless-like homeobox 4

ALX4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ALX4	Q9H161	PARVG	Homo sapiens	Q9HBI0	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Frontonasal Dysplasia 2	FND2 Frontonasal Dysplasia With Alopecia And Genital Anomaly Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome Alx4-Related Fndag Craniofrontonasal Dysplasia With Alopecia And Hypogonadism Frontonasal Dysplasia Type 2 Frontonasal Dysplasia With Alopecia And Genital Abnomality Doid:0081046 Dysplasia, Frontonasal, Type 2
Parietal Foramina 2	PFM2 Foramina Parietalia Permagna Fpp Foramina, Parietal, Type 2
Craniosynostosis 5	Craniosynostosis 5, Susceptibility To CRS5 Craniosynostosis, Type 5, Susceptibility To
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
Potocki-Shaffer Syndrome	Proximal 11p Deletion Syndrome Chromosome 11p11.2 Deletion Syndrome Pss 11p11.2 Deletion P11pds Defect11 Syndrome Deletion Of Chromosome 11p11.2 POSHS
Non-Syndromic Sagittal Craniosynostosis	Isolated Sagittal Craniosynostosis Isolated Scaphocephaly Non-Syndromic Sagittal Suture Synostosis
Frontonasal Dysplasia 1	Frontorhiny Frontonasal Dysplasia Fnd Frontonasal Malformation Fnm Median Facial Cleft Syndrome Midline Facial Cleft FND1 Median Cleft Face Syndrome Median Cleft Syndrome Frontonasal Dysplasia Sequence Median Facial Cleft Tessier Number 0-14 And 30 Facial Cleft Alx3-Related Frontonasal Dysplasia Frontonasal Dysplasia Type 1 Isolated Median Cleft Face Syndrome Doid:0081044 Doid:0081045 Dysplasia, Frontonasal, Type
Dysostosis	Dysostoses
Hypertelorism, Microtia, Facial Clefting Syndrome	Hmc Syndrome Bixler Christian Gorlin Syndrome Bixler-Christian-Gorlin Syndrome Hypertelorism-Microtia-Facial Clefting Syndrome Bixler Syndrome Hypertelorism-Microtia-Clefting Syndrome Hypertelorism Microtia Facial Clefting Syndrome
Widow'S Peak	Widow'S Peak Syndrome Widow'S Peak, Ptosis, And Skeletal Anomalies
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
Facial Cleft	Craniofacial Cleft Craniofacial Clefts
Baastrup'S Syndrome	Kissing Spine Baastrup Syndrome Kissing Spine, Site Unspecified Osteoarthrosis Interspinalis Overriding Of Dorsal Spinous Processes Localised Idiopathic Skeletal Hyperostosis Baastrup Disease
Zygodactyly 1	Zd1 Zygodactyly Type 1 Sd1, Weidenreich Type Sd1a Syndactyly Type 1, Weidenreich Type Syndactyly Type 1a Zygodactyly, Weidenreich Type
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Craniofrontonasal Syndrome	Craniofrontonasal Dysplasia CFNS Cfnd Craniofrontonasal Dysostosis Craniofrontonasal Dystosis Dysplasia, Craniofrontonasal
Hypertrichosis Universalis Congenita, Ambras Type	Ambras Syndrome Hypertrichosis, Congenital Generalized HTC1 HTC2 Chromosome Xq27.1 Interchromosomal Insertion Syndrome Cgh Hcg Ambras Type Hypertrichosis Universalis Congenita X-Linked Congenital Generalized Hypertrichosis Congenital Generalized Hypertrichosis, Macias-Flores Type Macias Flores-Garcia Cruz-Rivera Syndrome Htc 1 Hypertrichosis Universalis Congenita Ambras Type Hypertrichosis Congenital Generalized X-Linked Macias-Flores Garcia-Cruz Rivera Syndrome Congenital Generalized Hypertrichosis, Ambras Type
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
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
Syndactyly, Type Iv	Syndactyly Type 4 Polysyndactyly, Haas Type SDTY4 Haas Type Syndactyly Sd4 Polysyndactyly Type Haas Syndactyly 4 Polysyndactyly Haas Type Syndactyly Type Iv
Omphalocele	Omphalocoele Congenital Omphalocele Exomphalos Exumbilication
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Apert Syndrome	Acrocephalosyndactyly Type I Acs1 Acrocephalosyndactylia Acrocephalosyndactyly Acs I Apert-Crouzon Disease Acrocephalosyndactyly Type 1 Acrocephalosyndactyly, Type I Acs 1 Acrocephalo-Syndactyly Type 1 Syndactylic Oxycephaly Apert'S Syndrome Type I Acrocephalosyndactyly APRS
Dystonia 16	DYT16 Dyt-Prkra Dystonia-16 Young-Onset Dystonia- Early-Onset Dystonia Parkinsonism Dystonia, Type 16
Trichorhinophalangeal Syndrome, Type Ii	Langer-Giedion Syndrome Lgs Trichorhinophalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome Type 2 TRPS2 Monosomy 8q24.1 Chromosome 8q24.1 Deletion Syndrome Deletion 8q24.1 Giedion-Langer Syndrome Trichorhinophalangeal Dysplasia Type Ii Langer Giedion Syndrome Trps 2 Tricho-Rhino-Phalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome With Exostosis Trps Ii Tricho-Rhino-Phalangeal Syndrome 2 8q24.1 Microdeletion Syndrome 8q24.1 Deletion Syndrome
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Crouzon Syndrome	Crouzon Craniofacial Dysostosis Craniofacial Dysostosis Cfd1 Craniofacial Dysostosis Type 1 Crouzon Disease Crouzon'S Disease Craniofacial Dysostosis, Type I Craniofacial Dysarthrosis Craniofacial Dysostosis Syndrome CS Craniofacial Dysostosis Type I Vogt Cephalosyndactyly
Synostosis
Optic Nerve Hypoplasia, Bilateral	Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Optic Nerve Hypoplasia, Familial Bilateral Familial Bilateral Optic Nerve Hypoplasia Isolated Optic Nerve Hypoplasia/Aplasia Optic Nerve Aplasia, Bilateral Onh BONH Bilateral Optic Nerve Aplasia Hypoplasia, Optic Nerve, Bilateral
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Orofacial Cleft	Cleft, Orofacial

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 (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS00638	ALX4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ALX4	VGNC	VGNC:107419
Mus musculus	ALX4	MGD	MGI:108359
Felis catus	ALX4	VGNC	VGNC:67429
Rattus norvegicus	ALX4	RGD	RGD:1310201
Canis familiaris	ALX4	VGNC	VGNC:37822
Others	ALX4	NCBI