DLX4

Protein identityUniProt · HPA

UniProt accession

Q92988

Gene

DLX4

Ensembl

ENSG00000108813

Chromosome

17

Canonical length

240 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

240 residues, UniProt reviewed canonical sequence.

>Q92988|DLX4
     1  MTSLPCPLPG RDASKAVFPD LAPVPSVAAA YPLGLSPTTA ASPNLSYSRP YGHLLSYPYT
    61  EPANPGDSYL SCQQPAALSQ PLCGPAEHPQ ELEADSEKPR LSPEPSERRP QAPAKKLRKP
   121  RTIYSSLQLQ HLNQRFQHTQ YLALPERAQL AAQLGLTQTQ VKIWFQNKRS KYKKLLKQNS
   181  GGQEGDFPGR TFSVSPCSPP LPSLWDLPKA GTLPTSGYGN SFGAWYQHHS SDVLASPQMM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DLX4 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

3.3 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DLX4.

Disease | AllUniProt

Conditions DLX4 is implicated in, by any mechanism.

• Non-syndromic orofacial cleft 15 (OFC15) MIM:616788

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)

1.07

gnomAD pLI

0.02

gnomAD missense Z

-0.02

DepMap mean gene effect

-0.01

DepMap dependency class

selective

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

• cell differentiation
• embryonic skeletal system development
• negative regulation of transcription by RNA polymerase II
• regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II

Molecular functions

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

Cellular components

• chromatin
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Helix-turn-helix motif
• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain, metazoa
• Distal-less homeobox transcription factors
• Homeodomain

KeywordsUniProt

• Developmental protein
• DNA-binding
• Homeobox
• Nucleus