Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

ALX4

contributors: mct/npt - updated : 25-04-2023

HGNC name	ALX homeobox 4
HGNC id	450

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	45.56 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021926 4 - 5466 NP_068745 - 411 - 1999 9847249

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Skeleton axial skull cranium

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	craniofacial mesenchyme

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix DNA binding domain

mono polymer

homomer , heteromer , polymer

HOMOLOGY

interspecies

homolog to murine Alx4

Homologene

FAMILY

paired homeobox family (non HOX)

CATEGORY

DNA associated , transcription factor , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in endochondral bone ossification
	plays a critical role both in craniofacial development as in skin and hair follicle development (Kayserili 2009)
	is a homeodomain transcription factor with known involvement in osteoblast regulation
	acts as a novel functional tumor suppressor inactivated by DNA methylation

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	skull development

PATHWAY

metabolism

signaling

a component

forming homo or hetero polymers with other ALXs

INTERACTION

DNA	binding to palindromic sequences

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PFM1 , DEL11PP , FND2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in breast cancer, duct carcinoma in situ (DCIS) or invasive ductal carcinoma (IDC) (Chang 2009) tumoral     --low   in breast cancer cell lines and tissues

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	is an independent prognostic factor in breast cancer
	serum free DNA test of methylation of the ALX4 gene promoter is a sensitive and specific method and it seems ALX4 has the potential of a clinically useful test for the early detection of colorectal cancer
Therapy target

ANIMAL & CELL MODELS

inactivation of Alx4 causes lacrimal gland aplasia in both human and mouse