Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60529
Gene name Gene Name - the full gene name approved by the HGNC.
ALX homeobox 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALX4
Synonyms (NCBI Gene) Gene synonyms aliases
CRS5, FND2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRS5, FND2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894191 G>A Pathogenic Coding sequence variant, stop gained
rs104894192 G>A Pathogenic Coding sequence variant, stop gained
rs104894193 C>T Pathogenic Missense variant, coding sequence variant
rs104894196 C>G,T Pathogenic Missense variant, coding sequence variant
rs104894197 G>A,T Pathogenic Missense variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT779430 hsa-miR-103b CLIP-seq
MIRT779431 hsa-miR-1184 CLIP-seq
MIRT779432 hsa-miR-1205 CLIP-seq
MIRT779433 hsa-miR-1243 CLIP-seq
MIRT779434 hsa-miR-1245b-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605420 450 ENSG00000052850
Protein
UniProt ID Q9H161
Protein name Homeobox protein aristaless-like 4
Protein function Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.
PDB 2M0C , 8OSB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 215 271 Homeodomain Domain
PF03826 OAR 387 405 OAR motif Motif
Tissue specificity TISSUE SPECIFICITY: Expression is likely to be restricted to bone. Found in parietal bone.
Sequence
MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDA
KSRARYGAGQQDLATPLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQP
HLYLQRGACKTPPDGSLKLQEGSSGHSAALQVPCYAKESSLGEPELPPDSDTVGMDSSYL
SVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNRTTFTSYQLEELEKVFQKTHYPD
VYAREQLAMRTDLTEARVQVWFQNRRAKWRK
RERFGQMQQVRTHFSTAYELPLLTRAENY
AQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFLSVSGAGSHVG
QTHMGSLFGAASLSPGLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT
Sequence length 411
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Aplasia cutis congenita Aplasia cutis congenita of scalp rs587777706
Cerebellar vermis agenesis Familial aplasia of the vermis rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003
View all (121 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 29998114 ClinVar
Trigonocephaly Trigonocephaly ClinVar
Frontonasal Dysplasia frontonasal dysplasia with alopecia and genital anomaly GenCC
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Bladder Exstrophy and Epispadias Complex Associate 32385972
Carcinogenesis Associate 29991755
Carcinoma Hepatocellular Inhibit 28081728
Central Nervous System Vascular Malformations Associate 15569759
Colorectal Neoplasms Associate 28540987, 28700744, 33504902, 35477541, 37881109
Craniosynostoses Associate 22829454, 34586326
Encephalocele Associate 16319823
Intellectual Disability Associate 16319823
Malformations of Cortical Development Associate 15569759
Neoplasm Metastasis Associate 29991755