HOXA13 (homeobox A13)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3209
Gene name Gene Name - the full gene name approved by the HGNC.
Homeobox A13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HOXA13
Synonyms (NCBI Gene) Gene synonyms aliases
HOX1, HOX1J
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs104894019 C>T Pathogenic Coding sequence variant, stop gained
rs121912542 T>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(255)
miRTarBase ID miRNA Experiments Reference
MIRT021544 hsa-miR-142-3p Microarray 17612493
MIRT024658 hsa-miR-215-5p Microarray 19074876
MIRT026124 hsa-miR-192-5p Microarray 19074876
MIRT046676 hsa-miR-222-3p CLASH 23622248
MIRT045907 hsa-miR-125b-5p CLASH 23622248
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(44)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
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
142959 5102 ENSG00000106031
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P31271
Protein name Homeobox protein Hox-A13 (Homeobox protein Hox-1J)
Protein function Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.; Sequence-specific transcription factor
PDB 2L7Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12284 HoxA13_N 138 → 224 Hox protein A13 N terminal Family
PF00046 Homeodomain 323 → 379 Homeodomain Domain
Sequence 
MTASVLLHPRWIEPTVMFLYDNGGGLVADELNKNMEGAAAAAAAAAAAAAAGAGGGGFPH
PAAAAAGGNFSVAAAAAAAAAAAANQCRNLMAHPAPLAPGAASAYSSAPGEAPPSAAAAA
AAAAAAAAAAAAASSSGGPGPAGPAGAEAAKQCSPCSAAAQSSSGPAALPYGYFGSGYYP
CARMGPHPNAIKSCAQPASAAAAAAFADKYMDTAGPAAEEFSSRAKEFAFYHQGYAAGPY
HHHQPMPGYLDMPVVPGLGGPGESRHEPLGLPMESYQPWALPNGWNGQMYCPKEQAQPPH
LWKSTLPDVVSHPSDASSYRRGRKKRVPYTKVQLKELEREYATNKFITKDKRRRISATTN
LSERQVTIWFQNRRVKEKKVINKLKTTS
Sequence length 388
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hand-foot-genital syndrome hand-foot-genital syndrome rs104894019, rs1158254994, rs121912542, rs387906542 N/A
Show/Hide Unknown Diseases (2)
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
Guttmacher Syndrome Guttmacher syndrome N/A N/A GenCC
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Show/Hide Text Mining Associations (48)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 10839976, 36734258
Carcinogenesis Associate 32222541, 37392284
Carcinoma Hepatocellular Associate 24114970, 25341685
Carcinoma Hepatocellular Stimulate 29035381
Carcinoma Renal Cell Associate 32444962
Chromosome Aberrations Associate 29638102
Colorectal Neoplasms Associate 36514224
Daneman Davy Mancer syndrome Associate 36734258
Endometriosis Associate 20171623
Esophageal Neoplasms Associate 19491265, 32222541