Gene Gene information from NCBI Gene database.
Entrez ID 3207
Gene name Homeobox A11
Gene symbol HOXA11
Synonyms (NCBI Gene)
HOX1HOX1IRUSAT1
Chromosome 7
Chromosome location 7p15.2
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs864321666 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
232
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142958 5101 ENSG00000005073
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
26
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inherited genitourinary tract anomalies Likely pathogenic rs2534803515 RCV003445398
Mesomelic dysplasia with urogenital abnormalities Likely pathogenic rs2534803364 RCV002640760
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Pathogenic rs864321666 RCV000016026
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Uncertain significance rs778467438 RCV001270511
Flexion contracture Uncertain significance rs780070206 RCV001007801
HOXA11-related disorder Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign rs143812636, rs775223385, rs1266532859, rs373928992, rs2115463165, rs771674623, rs2534806908, rs770195077, rs139102218, rs562527955, rs201762092, rs553990793, rs577175554, rs377202514, rs1262283120
View all (1 more)
RCV003973341
RCV003966282
RCV003404195
RCV003414559
RCV003393166
RCV003897330
RCV003899741
RCV003973884
RCV003977040
RCV003897224
RCV003911376
RCV003961743
RCV003929554
RCV003951862
RCV003972187
RCV004755036
Thrombocytopenia Uncertain significance rs778467438 RCV001270511
Associations from Text MiningDisease 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