HOXD8

Protein identityUniProt · HPA

UniProt accession

P13378

Gene

HOXD8

Ensembl

ENSG00000175879

Chromosome

2

Canonical length

290 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. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

290 residues, UniProt reviewed canonical sequence.

>P13378|HOXD8
     1  MSSYFVNPLY SKYKAAAAAA AAAGEAINPT YYDCHFAPEV GGRHAAAAAA LQLYGNSAAG
    61  FPHAPPQAHA HPHPSPPPSG TGCGGREGRG QEYFHPGGGS PAAAYQAAPP PPPHPPPPPP
   121  PPPCGGIACH GEPAKFYGYD NLQRQPIFTT QQEAELVQYP DCKSSSGNIG EDPDHLNQSS
   181  SPSQMFPWMR PQAAPGRRRG RQTYSRFQTL ELEKEFLFNP YLTRKRRIEV SHALALTERQ
   241  VKIWFQNRRM KWKKENNKDK FPVSRQEVKD GETKKEAQEL EEDRAEGLTN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOXD8 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)

0.64

Highest tissue expression

94 nTPM

Expression across tissuesHPA

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)

0.85

gnomAD pLI

0.11

gnomAD missense Z

-1.42

DepMap mean gene effect

-0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anterior/posterior axis specification, embryo
• negative regulation of transcription by RNA polymerase II
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• skeletal system morphogenesis

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homeobox protein, antennapedia type, conserved site
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain, metazoa
• Antp homeobox transcription factor
• Homeodomain

KeywordsUniProt

• Developmental protein
• DNA-binding
• Homeobox
• Nucleus
• Transcription
• Transcription regulation