ALX1 (ALX homeobox 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8092
Gene name Gene Name - the full gene name approved by the HGNC.
ALX homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALX1
Synonyms (NCBI Gene) Gene synonyms aliases
CART1, FND3, HEL23
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FND3
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs587776684 G>A Pathogenic Splice donor variant
rs1593055101 G>C Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(120)
miRTarBase ID miRNA Experiments Reference
MIRT029276 hsa-miR-26b-5p Microarray 19088304
MIRT613331 hsa-miR-8485 HITS-CLIP 19536157
MIRT613331 hsa-miR-8485 HITS-CLIP 23824327
MIRT613331 hsa-miR-8485 HITS-CLIP 23824327
MIRT613331 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8756334
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 9753625
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601527 1494 ENSG00000180318
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q15699
Protein name ALX homeobox protein 1 (Cartilage homeoprotein 1) (CART-1)
Protein function Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:8756334, PubMed:9753625). Most probably regulates the expression of g
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 133 → 189 Homeodomain Domain
PF03826 OAR 302 → 320 OAR motif Motif
Tissue specificity TISSUE SPECIFICITY: Cartilage and cervix tissue. {ECO:0000269|PubMed:8756334}.
Sequence 
MEFLSEKFALKSPPSKNSDFYMGAGGPLEHVMETLDNESFYSKASAGKCVQAFGPLPRAE
HHVRLERTSPCQDSSVNYGITKVEGQPLHTELNRAMDNCNSLRMSPVKGMQEKGELDELG
DKCDSNVSSSKKRRHRTTFTSLQLEELEKVFQKTHYPDVYVREQLALRTELTEARVQVWF
QNRRAKWRKRERYGQIQQAKSHFAATYDISVLPRTDSYPQIQNNLWAGNASGGSVVTSCM
LPRDTSSCMTPYSHSPRTDSSYTGFSNHQNQFSHVPLNNFFTDSLLTGATNGHAFETKPE
FERRSSSIAVLRMKAKEHTANISWAM
Sequence length 326
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome, Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome rs587776684, rs1593055101
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Frontonasal Dysplasia frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome GenCC
Show/Hide Text Mining Associations (13)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 38548216
Anophthalmia plus syndrome Associate 20451171
Carcinogenesis Associate 26722397, 28069692
Carcinoma Non Small Cell Lung Associate 24081945, 33337349
Dystonic Disorders Associate 20451171
Frontonasal dysplasia Associate 20451171
Lung Neoplasms Associate 26722397
Melanoma Associate 26489459
Microphthalmos Associate 20451171
Neoplasm Metastasis Stimulate 26722397