Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3207
Gene name Gene Name - the full gene name approved by the HGNC.
Homeobox A11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HOXA11
Synonyms (NCBI Gene) Gene synonyms aliases
HOX1, HOX1I, RUSAT1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.2
Summary Summary of gene provided in NCBI Entrez Gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic develo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs864321666 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017072 hsa-miR-335-5p Microarray 18185580
MIRT047784 hsa-miR-30d-5p CLASH 23622248
MIRT041937 hsa-miR-484 CLASH 23622248
MIRT039124 hsa-miR-769-3p CLASH 23622248
MIRT523147 hsa-miR-374a-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142958 5101 ENSG00000005073
Protein
UniProt ID P31270
Protein name Homeobox protein Hox-A11 (Homeobox protein Hox-1I)
Protein function Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12045 DUF3528 25 167 Protein of unknown function (DUF3528) Family
PF00046 Homeodomain 242 298 Homeodomain Domain
Sequence
Sequence length 313
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Transcriptional misregulation in cancer  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia radioulnar synostosis with amegakaryocytic thrombocytopenia 1 rs864321666 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital finger flexion contractures Flexion contracture N/A N/A ClinVar
Hypertension Hypertension N/A N/A GWAS
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 24259349
Adenocarcinoma in Situ Associate 21731750
Adenocarcinoma in Situ Stimulate 28380439
Adenocarcinoma of Lung Associate 28380439, 30099826, 30106131, 35924724, 37082886
Anemia Aplastic Associate 38632857
Breast Neoplasms Associate 25287138, 28038461
Cancer Pain Associate 27456940
Carcinoma Ductal Associate 28038461
Carcinoma Hepatocellular Associate 31757938, 32901858, 36204642
Carcinoma Non Small Cell Lung Associate 24259349, 29034803