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FLASH GENE

Symbol

HOXD13

contributors: mct/pgu - updated : 29-03-2017

HGNC name	homeobox D13
HGNC id	5136

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000523 2 - 2341 NP_000514 - 343 - 1996 8817328

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 Nervous brain         Reproductive male system prostate

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	integrity of the N-terminal 31 AAs of HOXD13, excluding the polyalanine tract, is crucial to the stability of the protein
	helix-turn-helix, DNA binding domain
	two serine stretches and one alanine stretch

HOMOLOGY

interspecies	homolog to murine Hoxd13 (95.3pc)
	homolog to rattus Hoxd13 (95.3pc)

Homologene

FAMILY

Abd-B family of homeobox protein

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
	may regulate the expression of FHL1 in the development of idiopathic congenital clubfoot
	promotes pre-replication complex proteins assembly at origins and stimulates DNA synthesis
	pivotal role of HOXA13 and HOXD13 proteins in the transition from a proximal to a distal type of HOXD transcriptional regulation

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	anterior/posterior axis formation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	transactivating EPHA7 promoter

RNA

small molecule

protein	interacting with CDC6
	interacting with GMNN
	unappreciated function of HOXD13 in regulating digit number through its interaction with GLI3

cell & other

REGULATION

inhibited by

geminin

ASSOCIATED DISORDERS

corresponding disease(s)

PSDY2 , BDD , SDTY5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in a VACTERL patient tumoral     --over   higher in progesterone receptor-positive cancer tissues than negative cancer tissues

Susceptibility

Variant & Polymorphism repeat	triplet polyalamine expansion

Candidate gene	HOXD13 methylation could therefore potentially be used as a prognostic factor for breast cancer
Marker
Therapy target

ANIMAL & CELL MODELS

loss of Hoxa13 and Hoxd13 transcription factors (Hox13) leads to digit agenesis in mice