Seroatlas · Human Serome Atlas

HOXD12

Homeobox protein Hox-D12

Also known as: HOX4H, HXD12_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P35452
Gene: HOXD12
Ensembl: ENSG00000170178
Chromosome: 2
Canonical length: 270 aa
Protein class: Predicted intracellular proteins, Transcription factors

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 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]

Canonical amino-acid sequenceUniProt

270 residues, UniProt reviewed canonical sequence.

>P35452|HOXD12
     1  MCERSLYRAG YVGSLLNLQS PDSFYFSNLR PNGGQLAALP PISYPRGALP WAATPASCAP
    61  AQPAGATAFG GFSQPYLAGS GPLGLQPPTA KDGPEEQAKF YAPEAAAGPE ERGRTRPSFA
   121  PESSLAPAVA ALKAAKYDYA GVGRATPGST TLLQGAPCAP GFKDDTKGPL NLNMTVQAAG
   181  VASCLRPSLP DGLPWGAAPG RARKKRKPYT KQQIAELENE FLVNEFINRQ KRKELSNRLN
   241  LSDQQVKIWF QNRRMKKKRV VLREQALALY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOXD12 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): 0.66
Highest tissue expression: 1.4 nTPM

Expression across tissuesHPA

Tissue

rectum: 1.4 nTPM
seminal vesicle: 1.4 nTPM
vagina: 1.1 nTPM
colon: 1 nTPM
cervix: 0.6 nTPM
prostate: 0.6 nTPM

Single-cell type

neuroendocrine cells: 5.1 nCPM
goblet cells: 1.7 nCPM
colonocytes: 1.3 nCPM
enteric transient amplifying cells: 0.9 nCPM
enteric stem cells: 0.5 nCPM
basal prostatic cells: 0.3 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

white matter: 0.1 nTPM
amygdala: 0 nTPM
basal ganglia: 0 nTPM
cerebellum: 0 nTPM
cerebral cortex: 0 nTPM
choroid plexus: 0 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): 1.53
gnomAD pLI: 0
gnomAD missense Z: -1.34
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HOXD12 as an antibody target. Whether an autoantibody or antibody against HOXD12 could matter depends on whether native HOXD12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HOXD12 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 HOXD12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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