Aliases for HOXD12 Gene
Aliases for HOXD12 Gene
External Ids for HOXD12 Gene
- HGNC: 5135
- Entrez Gene: 3238
- Ensembl: ENSG00000170178
- OMIM: 142988
- UniProtKB: P35452
Previous HGNC Symbols for HOXD12 Gene
- HOX4H
Previous GeneCards Identifiers for HOXD12 Gene
- GC02P175017
- GC02P175625
- GC02P176930
- GC02P177168
- GC02P177169
- GC02P176790
- GC02P176672
- GC02P168842
Summaries for HOXD12 Gene
-
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for HOXD12 Gene
HOXD12 (Homeobox D12) is a Protein Coding gene. Diseases associated with HOXD12 include Syndactyly, Type V and Brachydactyly-Syndactyly Syndrome. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXC12.
UniProtKB/Swiss-Prot for HOXD12 Gene
-
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXD12 Gene
Genomics for HOXD12 Gene
Regulatory Elements for HOXD12 Gene
Enhancers for HOXD12 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HOXD12 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HOXD12 gene promoter:
Regulatory Element Products
Genomic Location for HOXD12 Gene
- Chromosome:
- 2
- Start:
- 176,098,513 bp from pter
- End:
- 176,103,770 bp from pter
- Size:
- 5,258 bases
- Orientation:
- Plus strand
Genomic View for HOXD12 Gene
Genes around HOXD12 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q31.1 by Ensembl
- 2q31.1 by Entrez Gene
- 2q31.1 by HGNC
HOXD12 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HOXD12 Gene
Proteins for HOXD12 Gene
-
Protein details for HOXD12 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35452-HXD12_HUMAN
- Recommended name:
- Homeobox protein Hox-D12
- Protein Accession:
- P35452
- B5MCP0
- Q0VAD7
- Q0VAD8
- Q9NS03
Protein attributes for HOXD12 Gene
- Size:
- 270 amino acids
- Molecular mass:
- 29031 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for HOXD12 Gene
Other Protein References for HOXD12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HOXD12
- Invitrogen Antibodies for HOXD12
- antibodies-online Antibodies for HOXD12: See all 52
- GeneTex HOXD12 antibody for HOXD12
Protein Products
-
OriGene Purified Proteins for HOXD12
- Search Origene for MassSpec and Protein Over-expression Lysates for HOXD12
- Origene Custom Protein Services for HOXD12
- antibodies-online Proteins for HOXD12: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HOXD12
Assay Products
- antibodies-online Kits for HOXD12: See all 2
No data available for DME Specific Peptides for HOXD12 Gene
Domains & Families for HOXD12 Gene
Gene Families for HOXD12 Gene
Protein Domains for HOXD12 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HOXD12 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P35452- Family:
-
- Belongs to the Abd-B homeobox family.
Function for HOXD12 Gene
Molecular function for HOXD12 Gene
- GENATLAS Biochemistry:
- homeo box D12(4H),homologous to mouse Hox-4.7,interacting with HOD13 during mouse limb development
- UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0043565 | sequence-specific DNA binding | IEA | -- |
Phenotypes for HOXD12 Gene
- MGI mutant phenotypes for HOXD12:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for HOXD12:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HOXD12 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXD12 gene
- Search ViGene Biosciences for HOXD12
CRISPR Products
-
OriGene CRISPR knockouts for HOXD12
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXD12
- GenScript: Design CRISPR guide RNA sequences for HOXD12
miRNA for HOXD12 Gene
- miRTarBase miRNAs that target HOXD12
-
- hsa-mir-552-5p (MIRT635161)
- hsa-mir-3685 (MIRT635162)
- hsa-mir-384 (MIRT635163)
- hsa-mir-302c-5p (MIRT635164)
- hsa-mir-7-2-3p (MIRT635165)
- hsa-mir-7-1-3p (MIRT635166)
- hsa-mir-5688 (MIRT635167)
- hsa-mir-495-3p (MIRT635168)
- hsa-mir-513c-3p (MIRT635169)
- hsa-mir-513a-3p (MIRT635170)
- hsa-mir-3606-3p (MIRT635171)
- hsa-mir-3119 (MIRT670134)
miRNA Products
- Search ViGene Biosciences for HOXD12
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HOXD12
- Browse OriGene Inhibitory RNA Products For HOXD12
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXD12 gene
Clone Products
-
OriGene ORF clones in human for HOXD12
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Cell Line Products
-
Horizon Cell Lines for HOXD12
-
ViGene Biosciences adenoviral particle packaged cDNA for HOXD12 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HOXD12 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXD12 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOXD12 Gene
Localization for HOXD12 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HOXD12 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
Pathways & Interactions for HOXD12 Gene
No Data Available
Interacting Proteins for HOXD12 Gene
Selected Interacting proteins:
ENSP00000385586
P35452-HXD12_HUMAN
for HOXD12 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007389 | pattern specification process | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HOXD12 Gene
Transcripts for HOXD12 Gene
mRNA/cDNA for HOXD12 Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (3) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for HOXD12
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXD12
- GenScript: Design CRISPR guide RNA sequences for HOXD12
miRNA Products
- Search ViGene Biosciences for HOXD12
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HOXD12
- Browse OriGene Inhibitory RNA Products For HOXD12
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXD12 gene
Clone Products
-
OriGene ORF clones in human for HOXD12
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for HOXD12 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Zone Of Polarizing Activity Cells Limb Bud
- Limb Bud Mesenchyme Cells Limb Bud
- Prechondrocytic Mesenchymal Cells Autopod
-
Mesoderm (Gastrulation Derivatives)
- Zone Of Polarizing Activity Cells Limb Bud
- Limb Bud Mesenchyme Cells Limb Bud
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for HOXD12 Gene
This gene is overexpressed in Vagina (x20.8), Colon - Sigmoid (x12.0), Cervix - Ectocervix (x8.0), and Prostate (x7.1).
NURSA nuclear receptor signaling pathways regulating expression of HOXD12 Gene:
HOXD12SOURCE GeneReport for Unigene cluster for HOXD12 Gene:
Hs.450028Primer Products
-
OriGene qPCR primer pairs for HOXD12
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXD12 Gene
Orthologs for HOXD12 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HOXD12 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HOXD12 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HOXD12 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hoxd12 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hoxd12 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HOXD12 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HOXD12 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HOXD12 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
ManyToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | hoxd12a 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for HOXD12 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for HOXD12 Gene
Paralogs for HOXD12 Gene
(8) SIMAP similar genes for HOXD12 Gene using alignment to 4 proteins:
Variants for HOXD12 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000189431 | -- | 176,099,216(+) | CTCAA(A/G)TAGCG | upstream-variant-2KB | |
| rs1000488319 | -- | 176,099,403(+) | CAACT(A/T)AAAGC | upstream-variant-2KB | |
| rs1000891192 | -- | 176,100,766(+) | CCGCG(A/C)GCGTG | downstream-variant-500B | |
| rs1001276988 | -- | 176,098,474(+) | CAATT(A/G)GTCGC | upstream-variant-2KB | |
| rs1002252417 | -- | 176,100,104(+) | TTCTA(G/T)GCGCC | reference, stop-gained |
Residual Variation Intolerance Score:
86.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.98;
68.20% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HOXD12 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HOXD12
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXD12 Gene
Disorders for HOXD12 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| syndactyly, type v |
|
|
| brachydactyly-syndactyly syndrome |
|
|
Search HOXD12 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HOXD12
No data available for UniProtKB/Swiss-Prot and Genatlas for HOXD12 Gene
Publications for HOXD12 Gene
- EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2. (PMID: 1675198) D'Esposito M. … Boncinelli E. (Genomics 1991) 2 3 4 64
- Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length. (PMID: 19540081) Sugie Y. … Osawa J. (Brain Dev. 2010) 3 46 64
- High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 46 64
- Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. (PMID: 19938081) Ester A.R. … Hecht J.T. (Am. J. Med. Genet. A 2009) 3 46 64
- [Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus]. (PMID: 16331564) Wang L.L. … Sun K.L. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005) 3 46 64
Products for HOXD12 Gene
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- OriGene qPCR primer pairs for HOXD12
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- Novus Biologicals Antibodies for HOXD12
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- antibodies-online Antibodies for HOXD12: See all 52
- antibodies-online Kits for HOXD12: See all 2
- antibodies-online Proteins for HOXD12: See all 4
- Search antibodies-online for peptides
- GeneTex HOXD12 antibody for HOXD12
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- ViGene Biosciences adenoviral particle packaged cDNA for HOXD12 gene
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- VectorBuilder custom plasmid, inducible vectors for HOXD12
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HOXD12 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (141) ENCODE
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- (143) Horizon
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- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer