HOXD4
Homeobox protein Hox-D4
Also known as: HOX4, HOX4B, HXD4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P09016
- Gene
- HOXD4
- Ensembl
- ENSG00000170166
- Chromosome
- 2
- Canonical length
- 255 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cell Junctions
OverviewNCBI 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 at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
255 residues, UniProt reviewed canonical sequence.
>P09016|HOXD4
1 MVMSSYMVNS KYVDPKFPPC EEYLQGGYLG EQGADYYGGG AQGADFQPPG LYPRPDFGEQ
61 PFGGSGPGPG SALPARGHGQ EPGGPGGHYA APGEPCPAPP APPPAPLPGA RAYSQSDPKQ
121 PPSGTALKQP AVVYPWMKKV HVNSVNPNYT GGEPKRSRTA YTRQQVLELE KEFHFNRYLT
181 RRRRIEIAHT LCLSERQIKI WFQNRRMKWK KDHKLPNTKG RSSSSSSSSS CSSSVAPSQH
241 LQPMAKDHHT DLTTLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HOXD4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- endometrium: 29 nTPM
- epididymis: 26 nTPM
- kidney: 23 nTPM
- ovary: 17 nTPM
- fallopian tube: 15 nTPM
- seminal vesicle: 11 nTPM
Single-cell type
- fallopian tube ciliated cells: 1.1 nCPM
- fallopian secretory cells: 1 nCPM
- epididymal principal cells: 0.9 nCPM
- leydig cells: 0.7 nCPM
- neuroendocrine cells: 0.7 nCPM
- epididymal basal cells: 0.5 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 23 nTPM
- spinal cord: 17 nTPM
- white matter: 16 nTPM
- pons: 11 nTPM
- midbrain: 0.7 nTPM
- cerebral cortex: 0.2 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.06
- gnomAD pLI
- 0.01
- gnomAD missense Z
- -0.42
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior pattern specification
- embryonic organ development
- embryonic skeletal system morphogenesis
- positive regulation of transcription by RNA polymerase II
- stem cell differentiation
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HOXD4 as an antibody target. Whether an autoantibody or antibody against HOXD4 could matter depends on whether native HOXD4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HOXD4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HOXD4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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