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HOXD13 Gene

protein-coding GIFtS: 57

GC02P176665

homeobox D13
(Previous name: homeo box D13 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: HOX4I, SPD)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
BDE ^²
BDSD ^², ⁵
HOX4I ^², ³, ⁵
Hox-4I ^³
SPD ^², ⁵

Descriptions
homeo box 4I ^²
homeo box D13 ^¹, ²
homeobox D13 ^²

External Ids
HGNC: 5136¹
Entrez Gene: 3239²
UniProtKB: P35453³
Ensembl: ENSG00000128714⁷

Search outside databases for aliases for HOXD13 gene

Previous GC identifers: GC02P175010 GC02P175618 GC02P176921 GC02P177160 GC02P176783

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for HOXD13:

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. Mutations in this particular gene cause synpolydactyly. [provided by

RefSeq]

UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453

Function: Sequence-specific transcription factor which is part of a developmental regulatory system

that provides cells with specific positional identities on the anterior-posterior axis

Gene Wiki entry for HOXD13

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the HOXD13 gene

Entrez Gene cytogenetic band: 2q31.1 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q31.1

HOXD13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P176665: (about GC identifiers)

Start:	176,665,778 bp from pter
End:	176,668,912 bp from pter
Size:	3,135 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000002.10 NT_005403.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453 (See protein sequence)

Recommended Name: Homeobox protein Hox-D13

Size: 343 amino acids; 36101 Da

Subcellular location: Nucleus

Caution: It is uncertain whether Met-1 or Met-9 is the initiator

REFSEQ proteins: NP_000514.2

ENSEMBL proteins:

ENSP00000376322 ENSP00000249505

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (HOXD13)
	Human Recombinant Proteins from Abnova (HOXD13)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

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Antibodies for HOXD13:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (HOXD13), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (HOXD13)
	Novus Biologicals Antibody for HOXD13

Assays for HOXD13:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P35453

ProtoNet protein and cluster: P35453

UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453

Similarity: Belongs to the Abd-B homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HOXD13)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HOXD13)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000523

Applied Biosystems Silencer® siRNAs for HOXD13

Sigma-Aldrich siRNA for HOXD13

Sigma-Aldrich shRNA for HOXD13

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000523
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000523
untagged cDNA clones in CMV expression vector (see all 2): NM_000523

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000523

UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453

Function: Sequence-specific transcription factor which is part of a developmental regulatory system

that provides cells with specific positional identities on the anterior-posterior axis

Genatlas biochemistry entry for HOXD13:

homeo box D13(4I),homologous to mouse Hox-4.8,involved in patterning and polarization of the mouse

autopodium

13 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Hoxd13):

digestive/alimentary	embryogenesis	endocrine/exocrine gland	growth/size	lethality-postnatal
lethality-prenatal/perinatal	limbs/digits/tail	muscle	no phenotypic analysis	renal/urinary system
reproductive system	skeleton	vision/eye

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003682	chromatin binding	IEA	--
GO:0003700	transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Gene Network Central^TM Interacting Genes and Proteins Network for HOXD13

5/27 Interacting proteins for HOXD13 (ENSP00000249505³) via UniProtKB, MINT, and/or STRING (see all 27 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SHH	ENSP00000297261³	STRING (score=.988)
SMAD5	ENSP00000231589³	STRING (score=.939)
EPHA7	ENSP00000358309³	STRING (score=.916)
MEIS1	ENSP00000272369³	STRING (score=.914)
SALL3	ENSP00000299466³	STRING (score=.889)

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5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	8614804
GO:0006355	regulation of transcription, DNA-dependent	TAS	9207113
GO:0007389	pattern specification process	IEA	--
GO:0009952	anterior/posterior pattern formation	IEA	--
GO:0030539	male genitalia development	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HOXD13

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HOXD13)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HOXD13)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000523

Sigma-Aldrich siRNA for HOXD13

Sigma-Aldrich shRNA for HOXD13

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000523

REFSEQ mRNAs for HOXD13 gene:

NM_000523.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000523

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000523
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000523
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000523

1 DOTS entry:

DT.40125298

11 AceView cDNA sequences:

AI863090 BE047838 AI858239 NM_000523 BG204577 AI202703 AI971733 CB048000

AA548783 AI971104 BG203557

highest scoring ESTs for HOXD13:

BG204577 AI858239 AI971733 BG203557 NM_000523 AA548783 AA578211 AI202703 AI863090 AI971104

Unigene Cluster for HOXD13:

Homeobox D13

Hs.152414 [show with all ESTs]

Unigene Representative Sequence: NM_000523

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000392539 ENST00000249505

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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HOXD13 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HOXD13

¹ / ² / ³

8 probe-sets matching HOXD13 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
83322_at²^{, 3}	U95-E	1	1.00	1.00	0.97	0.96	AI971104	0.40	1.00	0.76	1
33091_at²^{, 3}	U95-A	1	1.00	1.00	0.60	1.05	AF005220	0.20	1.00	0.72	1
207398_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000523	0.60	1.00	0.82	1
207397_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000523	0.60	1.00	0.82	1
236681_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI971104	0.40	1.00	0.76	1
207398_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
207397_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
236681_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks HOXD13 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GGCAGTGCTT

SOURCE GeneReport for Unigene cluster: Hs.152414
Expression variation in blood from EXPOLDB for HOXD13

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for HOXD13 gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	HOXD13¹	--	homeobox D13	98.93(n) 99.13(a)	470586 XM_525967.2 XP_525967.2
cow (Bos taurus)	HOXD13¹	--	homeobox D13	88.52(n) 95.47(a)	520424 XM_598665.3 XP_598665.3
rat (Rattus norvegicus)	Hoxd13¹	--	homeo box D13	87.61(n) 95.28(a)	288154 XM_221511.3 XP_221511.3
mouse (Mus musculus)	Hoxd13⁵ Hoxd13¹	2 (45.00 cM)⁵	homeo box D13^{1, 5}	87.22(n)¹ 95.28(a)¹	15433¹ NM_008275.2¹ NP_032301.2¹ AB221620⁵ AK077862⁵ (see all 11)
chicken (Gallus gallus)	HOXD13¹	--	homeobox D13	77.63(n) 87.25(a)	396415 NM_205434.1 NP_990765.1

About this table Species with no ortholog for HOXD13

ENSEMBL Gene Tree for HOXD13

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for HOXD13 gene

HOXA13² HOXC13² HOXC12² HOXB13² HOXD12²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453

Polymorphism: The poly-Ala region is polymorphic (11 to 15 residues) in the normal population and

is expanded to about 22-29 residues in SPD and syndactyly type 5 patients

10/33 NCBI SNPs in HOXD13 are shown (see all 33 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 42)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs847200^1,2	A,C,F,H	176663791(-)	`TCTTTA/GTGAAA`	1	--	ng5¹		8		MN EU EA WA NA	876
	rs3754983^1,2	C,F,H	176664756(+)	`CGGGCG/AGGAGT`	1	--	ng5¹		5		EA EU WA	1722
	rs847198^1,2	A,F	176664506(-)	`TTAGGG/AATTAC`	1	--	ng5¹		4		MN NA EA	456
	rs35290213^1,2	C,F	176666618(-)	`GTGGGA/CCCCCT`	1	S/A	mis¹		5		NA EU EA WA	496
	rs847197^1,2	C	176664748(-)	`CCGTTC/TCTCAC`	1	--	ng5¹		1		MN	184
	rs847196^1,2	C	176665364(-)	`GAGGCG/CGGCGC`	1	--	ng5¹		1		MN	184
	rs847199^1,2	A	176663858(-)	`GCATTT/GTAAAA`	1	--	ng5¹		1		MN	184
	rs847195^1,2	A,F,H	176666257(-)	`TTGCCG/AAAGTG`	1	F/F	syn¹ ese³		5		MN EU EA WA	602
--	rs2518053^1,2	A,C	176666068(+)	`gcggcA/Ggcggc`	1	A/A	syn¹ ese³		0	--	--	--	--
	rs847193^1,2	A,C,F,H	176667254(-)	`TGCACT/CTAACA`	1	--	int¹		4		EU EA WA	418

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HapMap Linkage Disequilibrium images for HOXD13 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 142989 disorders: 186000 113300 113200 186000 186300 610713

UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453

Defects in HOXD13 are the cause of synpolydactyly (SPD) [MIM:186000]; also known as

syndactyly type 2. SPD is a limb malformation that shows a characteristic manifestation in both

hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance

Defects in HOXD13 are the cause of brachydactyly type D (BDD) [MIM:113200]. BDD is

characterized by short and broad terminal phalanges of the thumbs and big toes. Inheritance is

autosomal dominant

Defects in HOXD13 are the cause of syndactyly type 5 [MIM:186300]; also known as

syndactyly with metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly

fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and

4th fingers and the 2nd and 3rd toes. Inheritance is autosomal dominant

Defects in HOXD13 are the cause of brachydactyly-syndactyly syndrome (BDSD) [MIM:610713].

Most of affected individuals exhibit generalized shortening of the hands and feet, broad and short

distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes

observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1

Defects in HOXD13 are the cause of brachydactyly type E (BDE) [MIM:113300]. BDE is

characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Inheritance

is autosomal dominant

10/12 Novoseek disease relationships for HOXD13 gene (see all 12 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
synpolydactyly	98.99	27	15952114 (3), 19060004 (2), 17656229 (2), 12900906 (2) (see all 16)
limb malformation	94.02	12	18399101 (2), 19060004 (2), 12620993 (2), 19006232 (1) (see all 7)
hand-foot-genital syndrome	93.65	2	15643670 (1), 16457401 (1)
brachydactyly, type d	93.24	2	12649808 (1), 17236141 (1)
malformation foot	86.66	3	18399101 (1), 12900906 (1), 9758628 (1)
syndactyly	83.17	3	12900906 (1), 11850178 (1), 17236141 (1)
brachydactyly	80.56	4	15643670 (1), 11850178 (1), 12620993 (1), 17236141 (1)
polydactyly	75.99	2	11850178 (1), 12620993 (1)
hypospadias	53.20	3	17656229 (2), 9207113 (1)
hypoplasia	26.57	1	7666393 (1)

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Human Gene Mutation Database: HOXD13
Human Genome Epidemiology Navigator: HOXD13 (3 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

32/63 PubMed articles for HOXD13 gene (see all 63 ):

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. (PubMed id 17236141)^{1, 3, 4} Zhao X.... Zhang X. (2007)
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. (PubMed id 12649808)^{1, 3, 4} Johnson D.... Wilkie A.O. (2003)
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. (PubMed id 8817328)^{1, 3, 4} Akarsu A.N.... Sarfarazi M. (1996)
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. (PubMed id 8614804)^{1, 3, 4} Muragaki Y.... Olsen B.R. (1996)
A 72-year-old Danish puzzle resolved -- comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. (PubMed id 16222680)^{3, 4} Kjaer K.W.... Tommerup N. (2005)
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. (PubMed id 12414828)^{3, 4} Debeer P....Goodman F.R. (2002)
EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2. (PubMed id 1675198)^{3, 4} D'Esposito M....Boncinelli E. (1991)
Nomenclature for human homeobox genes. (PubMed id 1973146)^{2, 3} McAlpine P.J. and Shows T.B. (1990)
The human HOX gene family. (PubMed id 2574852)^{2, 3} Acampora D.... Boncinelli E. (1989)
[Research of HOXD13 and FHL1 in idiopathic congenital talipes equinovarus] (PubMed id 18244901)^{1, 3} Wang L.L....Sun K.L. (2008)
A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype. (PubMed id 19060004)^{1, 3} Fantini S....Zappavigna V. (2009)
Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly. (PubMed id 15952114)^{1, 3} Dai L....Lin M.J. (2005)
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. (PubMed id 12620993)^{1, 3} Caronia G....Zappavigna V. (2003)
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. (PubMed id 12900906)^{1, 3} Kan S.H....Wilkie A.O. (2003)
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. (PubMed id 9758628)^{1, 3} Goodman F....Scambler P. (1998)
Novel mutations of the HOXD13 gene in hand and foot malformations. (PubMed id 18399101)^{1, 3} Nakano K....Uchinuma E. (2007)
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. (PubMed id 9207113)^{1, 3} Goodman F.R....Scambler P.J. (1997)
Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. (PubMed id 17656229)^{1, 3} Tuzel E....Guler C. (2007)
HOXD13 may play a role in idiopathic congenital clubfoot by regulating the expression of FHL1. (PubMed id 18758158)³ Wang L.L....Sun K.L. (2008)
Leukemic transformation in mice expressing a NUP98-HOXD13 transgene is accompanied by spontaneous mutations in Nras, Kras, and Cbl. (PubMed id 18566322)³ Slape C....Aplan P.D. (2008)
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences. (PubMed id 18072967)³ Malik S....Grzeschik K.H. (2007)
[HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family] (PubMed id 15696469)³ Zhao X.L....Zhang X. (2005)
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. (PubMed id 11778160)³ Goodman F.R....Scambler P.J. (2002)
Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. (PubMed id 9005557)³ Warren S.T. (1997)
Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs. (PubMed id 16314414)¹ Salsi V. and Zappavigna V. (2006)
Evx2-Hoxd13 intergenic region restricts enhancer association to Hoxd13 promoter. (PubMed id 17245451)¹ Yamagishi T....Kondo T. (2007)
Heterogenous fusion transcripts involving the NUP98 gene and HOXD13 gene activation in a case of acute myeloid leukemia with the t(2;11)(q31;p15) translocation. (PubMed id 10995009)¹ Arai Y....Ohki M. (2000)
Identification of a HOXD13 mutation in a VACTERL patient. (PubMed id 19006232)¹ Garcia-Barcelo M.M....Tam P.K. (2008)
Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome. (PubMed id 12382951)¹ Perez-Cabrera A....Zenteno J.C. (2002)
Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. (PubMed id 16497573)¹ Horsnell K....Crow Y. (2006)
The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes. (PubMed id 11543619)¹ Bruneau S....Duboule D. (2001)
A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. (PubMed id 9580668)¹ Johnson K.R....Davisson M.T. (1998)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3239	HGNC: 5136	AceView: HOXD13	Ensembl:ENSG00000128714	euGenes: HUgn3239
ECgene: HOXD13	H-InvDB: HOXD13

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for HOXD13	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=HOXD13

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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HOXD13 Gene

protein-coding GIFtS: 57

Aliases &
Descriptions
for HOXD13

Summaries
for HOXD13

Genomic Location
for HOXD13

Proteins
for HOXD13

Protein Domains/
Families
for HOXD13

Gene Function
for HOXD13

Pathways & Interactions
for HOXD13

Drugs & Compounds
for HOXD13

Transcripts
for HOXD13

Expression
for HOXD13

Orthologs
for HOXD13

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for HOXD13

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for HOXD13

Medical News
for HOXD13

Publications
for HOXD13

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Genome Databases showing HOXD13

Other Databases showing HOXD13

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for HOXD13

Services
for HOXD13

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HOXD13 Gene

protein-coding GIFtS: 57

Aliases & Descriptionsfor HOXD13

Summariesfor HOXD13

Genomic Locationfor HOXD13

Proteinsfor HOXD13

Protein Domains/Familiesfor HOXD13

Gene Functionfor HOXD13

Pathways & Interactionsfor HOXD13

Drugs & Compoundsfor HOXD13

Transcriptsfor HOXD13

Expression for HOXD13

Orthologsfor HOXD13

Paralogsfor HOXD13

SNPs/Variantsfor HOXD13

Disorders & Mutationsfor HOXD13

Medical Newsfor HOXD13

Publicationsfor HOXD13

Search for HOXD13

Genome Databases showing HOXD13

Other Databases showing HOXD13

Specialized Databases showing HOXD13

Licensable Technologiesfor HOXD13

Servicesfor HOXD13

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for HOXD13

Summaries
for HOXD13

Genomic Location
for HOXD13

Proteins
for HOXD13

Protein Domains/
Families
for HOXD13

Gene Function
for HOXD13

Pathways & Interactions
for HOXD13

Drugs & Compounds
for HOXD13

Transcripts
for HOXD13

Expression
for HOXD13

Orthologs
for HOXD13

Paralogs
for HOXD13

SNPs/Variants
for HOXD13

Disorders & Mutations
for HOXD13

Medical News
for HOXD13

Publications
for HOXD13

Licensable Technologies
for HOXD13

Services
for HOXD13