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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 nameGene Name - the full gene name approved by the HGNC.
Homeobox A13
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HOXA13
SynonymsGene synonyms aliases
HOX1, HOX1J
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDsOther 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
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
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Hand-foot-genital syndrome Hand foot uterus syndrome, Hand-foot-genital syndrome rs104894019, rs1158254994, rs121912542, rs387906542 12073020, 10839976, 24934387, 9020844, 24239177, 26590955
Polydactyly Polydactyly rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987 9020844
Renal insufficiency Renal Insufficiency rs1596536873
Unknown
Disease name Disease term dbSNP ID References
Abnormal dermatoglyphic pattern Abnormal dermatoglyphic pattern
Camptodactyly of fingers Clinodactyly of the 5th finger
Congenital duplication of uterus Congenital duplication of uterus
Female urogenital diseases Female Urogenital Diseases 16002989

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