DLX5 (distal-less homeobox 5)

Gene

• Entrez ID: 1749
• Gene name: Distal-less homeobox 5
• Gene symbol: DLX5
• Synonyms: SHFM1, SHFM1D
• Chromosome: 7
• Chromosome location: 7q21.3
• Summary: This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906737	T>G	Pathogenic	Missense variant, coding sequence variant
rs398122527	C>A	Pathogenic	Missense variant, coding sequence variant
rs587777842	C>A	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000320	hsa-miR-141-3p	Luciferase reporter assay	19454767
MIRT000204	hsa-miR-200a-3p	Luciferase reporter assay	19454767
MIRT006041	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT006041	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT006041	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT018111	hsa-miR-335-5p	Microarray	18185580
MIRT038077	hsa-miR-423-5p	CLASH	23622248
MIRT006041	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	28025541
MIRT756262	hsa-miR-135a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	38760791

Transcription factors

Transcription factor	Regulation	Reference
MECP2	Unknown	19195802
POU5F1	Repression	17068183

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	ISS
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	19497851
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001501	Process	Skeletal system development	TAS	7907794
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0001958	Process	Endochondral ossification	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007399	Process	Nervous system development	TAS	7907794
GO:0008283	Process	Cell population proliferation	IDA	19497851
GO:0009790	Process	Embryo development	IBA	21873635
GO:0021889	Process	Olfactory bulb interneuron differentiation	IEA
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	19497851
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IBA	21873635
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060166	Process	Olfactory pit development	IEA
GO:0060325	Process	Face morphogenesis	IEA
GO:0071773	Process	Cellular response to BMP stimulus	ISS
GO:0071837	Function	HMG box domain binding	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0097376	Process	Interneuron axon guidance	IEA
GO:1901522	Process	Positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600028
• HGNC: 2918
• e!Ensembl: ENSG00000105880

Protein

• UniProt ID: P56178
• Protein name: Homeobox protein DLX-5
• Protein function: Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast
• PDB: 2DJN, 4RDU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12413	DLL_N	32 → 118	Homeobox protein distal-less-like N terminal	Family
  PF00046	Homeodomain	138 → 194	Homeodomain	Domain

• Sequence:

  MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCS
  PTSASYGKALNPYQYQYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEK
  EVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQ
  VKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWEPQGSSRSLSHHPHAH
  PPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY

• Sequence length: 289

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	26830138
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
Ectrodactyly	Ectrodactyly	rs1850314485	24496061
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Split-hand-foot malformation with sensorineural hearing loss	Split-Hand-Foot Malformation With Sensorineural Hearing Loss	rs387906737	22121204, 27085093

Unknown
Disease name	Disease term	dbSNP ID	References
Bone disease	Bone Diseases, Developmental		10433909
Isolated split hand-split foot malformation	Isolated split hand-split foot malformation
Oligodactyly	Oligodactyly
Split hand foot deformity	Split foot, Split hand foot deformity 1
Split hand-split foot-deafness syndrome	Split hand-split foot-deafness syndrome
Syndactyly of fingers	Syndactyly of fingers