Gene Gene information from NCBI Gene database.
Entrez ID 3209
Gene name Homeobox A13
Gene symbol HOXA13
Synonyms (NCBI Gene)
HOX1HOX1J
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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142959 5102 ENSG00000106031
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
CARMGPHPNAIKSCAQPASAAAAAAFADKYMDTAGPAAEEFSSR
AKEFAFYHQGYAAGPY
HHHQPMPGYLDMPVVPGLGGPGESRHEPLGLPMESYQPWALPNGWNGQMYCPKEQAQPPH
LWKSTLPDVVSHPSDASSYRRGRKKRVPYTKVQLKELEREYATNKFITKDKRRRISATTN
LSERQVTIWFQNRRVKEKK
VINKLKTTS
Sequence length 388
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
78
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hand-foot-genital syndrome Likely pathogenic; Pathogenic rs35861510, rs2534826601, rs104894019, rs1158254994, rs2534827764, rs121912542, rs2534827749, rs387906542 RCV001568360
RCV002472165
RCV000016018
RCV000016019
RCV000016020
RCV000016021
RCV000016024
RCV000016025
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs951410939, rs2115471123 -
Congenital heart disease Benign; Likely benign rs750672289 RCV005626705
Guttmacher syndrome Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign rs34398255, rs1784060954, rs752314022, rs1441311870, rs747262113, rs200676634, rs1298976147, rs2534827375, rs1319557765, rs1278990005, rs1784064176, rs759554883, rs761685080, rs1289314405, rs1253127228
View all (5 more)
RCV002488462
RCV002496096
RCV002503204
RCV002489757
RCV002479518
RCV002490001
RCV005031941
RCV005397335
RCV005045327
RCV005032359
RCV005034347
RCV005042949
RCV005045379
RCV005047349
RCV005036672
RCV005037012
RCV005038503
RCV002499335
RCV002485839
RCV002501486
RCV002505334
HOXA13-related disorder Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign rs200676634, rs747262113, rs955237055, rs751175020, rs773516831, rs748814782, rs773498524, rs1415196891, rs1784067573, rs2534827756, rs962505829, rs928001584, rs955353119, rs929280354, rs1583449164
View all (4 more)
RCV004756301
RCV003951330
RCV003933709
RCV004756469
RCV004756444
RCV003408811
RCV003909319
RCV003921475
RCV003904741
RCV003921795
RCV003894001
RCV003902142
RCV003919394
RCV003949625
RCV003924262
RCV003942140
RCV003966927
RCV003980357
RCV003945772
RCV003975732
Associations from Text MiningDisease 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