Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	60529
Gene name Gene Name - the full gene name approved by the HGNC.	ALX homeobox 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALX4
Synonyms (NCBI Gene) Gene synonyms aliases	CRS5, FND2
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized

Show/Hide all(17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894191	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894192	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894193	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894196	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894197	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs267606653	G>A	Pathogenic	Stop gained, coding sequence variant
rs281865153	C>A,G,T	Risk-factor	Coding sequence variant, missense variant
rs281865154	T>C	Risk-factor	Coding sequence variant, missense variant
rs387906325	CGTCTTGCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587776614	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777700	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs587777701	G>C	Pathogenic	Coding sequence variant, missense variant
rs587777702	GCACCGGGTC>AGTTGCCATCTCTGTTGAGATCTTAG	Pathogenic	Coding sequence variant, frameshift variant
rs869320717	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876657391	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795941	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307637	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(202)

miRTarBase ID	miRNA	Experiments
MIRT779430	hsa-miR-103b	CLIP-seq
MIRT779431	hsa-miR-1184	CLIP-seq
MIRT779432	hsa-miR-1205	CLIP-seq
MIRT779433	hsa-miR-1243	CLIP-seq
MIRT779434	hsa-miR-1245b-5p	CLIP-seq
MIRT779435	hsa-miR-1253	CLIP-seq
MIRT779436	hsa-miR-1291	CLIP-seq
MIRT779437	hsa-miR-1297	CLIP-seq
MIRT779438	hsa-miR-1302	CLIP-seq
MIRT779439	hsa-miR-1321	CLIP-seq
MIRT779440	hsa-miR-1470	CLIP-seq
MIRT779441	hsa-miR-1909	CLIP-seq
MIRT779442	hsa-miR-1914	CLIP-seq
MIRT779443	hsa-miR-1915	CLIP-seq
MIRT779444	hsa-miR-2110	CLIP-seq
MIRT779445	hsa-miR-2117	CLIP-seq
MIRT779446	hsa-miR-218	CLIP-seq
MIRT779447	hsa-miR-26a	CLIP-seq
MIRT779448	hsa-miR-26b	CLIP-seq
MIRT779449	hsa-miR-2861	CLIP-seq
MIRT779450	hsa-miR-3142	CLIP-seq
MIRT779451	hsa-miR-3145-5p	CLIP-seq
MIRT779452	hsa-miR-3158-5p	CLIP-seq
MIRT779453	hsa-miR-3175	CLIP-seq
MIRT779454	hsa-miR-3184	CLIP-seq
MIRT779455	hsa-miR-3194-3p	CLIP-seq
MIRT779456	hsa-miR-328	CLIP-seq
MIRT779457	hsa-miR-361-3p	CLIP-seq
MIRT779458	hsa-miR-3690	CLIP-seq
MIRT779459	hsa-miR-3911	CLIP-seq
MIRT779460	hsa-miR-3977	CLIP-seq
MIRT779461	hsa-miR-423-5p	CLIP-seq
MIRT779462	hsa-miR-4251	CLIP-seq
MIRT779463	hsa-miR-4254	CLIP-seq
MIRT779464	hsa-miR-4270	CLIP-seq
MIRT779465	hsa-miR-4271	CLIP-seq
MIRT779466	hsa-miR-4273	CLIP-seq
MIRT779467	hsa-miR-4298	CLIP-seq
MIRT779468	hsa-miR-4434	CLIP-seq
MIRT779469	hsa-miR-4436b-3p	CLIP-seq
MIRT779470	hsa-miR-4441	CLIP-seq
MIRT779471	hsa-miR-4459	CLIP-seq
MIRT779472	hsa-miR-4465	CLIP-seq
MIRT779473	hsa-miR-4469	CLIP-seq
MIRT779474	hsa-miR-4514	CLIP-seq
MIRT779475	hsa-miR-4516	CLIP-seq
MIRT779476	hsa-miR-4531	CLIP-seq
MIRT779477	hsa-miR-4640-5p	CLIP-seq
MIRT779478	hsa-miR-4692	CLIP-seq
MIRT779479	hsa-miR-4695-5p	CLIP-seq
MIRT779480	hsa-miR-4723-5p	CLIP-seq
MIRT779481	hsa-miR-4725-3p	CLIP-seq
MIRT779482	hsa-miR-4726-5p	CLIP-seq
MIRT779483	hsa-miR-4727-3p	CLIP-seq
MIRT779484	hsa-miR-4728-5p	CLIP-seq
MIRT779485	hsa-miR-4738-3p	CLIP-seq
MIRT779486	hsa-miR-4739	CLIP-seq
MIRT779487	hsa-miR-4749-3p	CLIP-seq
MIRT779488	hsa-miR-4756-5p	CLIP-seq
MIRT779489	hsa-miR-4761-3p	CLIP-seq
MIRT779490	hsa-miR-4797-5p	CLIP-seq
MIRT779491	hsa-miR-508-5p	CLIP-seq
MIRT779492	hsa-miR-539	CLIP-seq
MIRT779493	hsa-miR-548g	CLIP-seq
MIRT779494	hsa-miR-580	CLIP-seq
MIRT779495	hsa-miR-582-3p	CLIP-seq
MIRT779496	hsa-miR-636	CLIP-seq
MIRT779497	hsa-miR-665	CLIP-seq
MIRT779498	hsa-miR-760	CLIP-seq
MIRT1930036	hsa-miR-1207-5p	CLIP-seq
MIRT1930037	hsa-miR-1273g	CLIP-seq
MIRT779439	hsa-miR-1321	CLIP-seq
MIRT779443	hsa-miR-1915	CLIP-seq
MIRT1930038	hsa-miR-3144-5p	CLIP-seq
MIRT1930039	hsa-miR-3189-3p	CLIP-seq
MIRT1930040	hsa-miR-3199	CLIP-seq
MIRT1930041	hsa-miR-3591-5p	CLIP-seq
MIRT1930042	hsa-miR-3612	CLIP-seq
MIRT779457	hsa-miR-361-3p	CLIP-seq
MIRT779458	hsa-miR-3690	CLIP-seq
MIRT779463	hsa-miR-4254	CLIP-seq
MIRT779464	hsa-miR-4270	CLIP-seq
MIRT779470	hsa-miR-4441	CLIP-seq
MIRT1930043	hsa-miR-4443	CLIP-seq
MIRT1930044	hsa-miR-4475	CLIP-seq
MIRT1930045	hsa-miR-4505	CLIP-seq
MIRT1930046	hsa-miR-4515	CLIP-seq
MIRT1930047	hsa-miR-4533	CLIP-seq
MIRT779477	hsa-miR-4640-5p	CLIP-seq
MIRT1930048	hsa-miR-4691-3p	CLIP-seq
MIRT779482	hsa-miR-4726-5p	CLIP-seq
MIRT779484	hsa-miR-4728-5p	CLIP-seq
MIRT1930049	hsa-miR-4731-5p	CLIP-seq
MIRT1930050	hsa-miR-4736	CLIP-seq
MIRT779486	hsa-miR-4739	CLIP-seq
MIRT779488	hsa-miR-4756-5p	CLIP-seq
MIRT1930051	hsa-miR-4763-3p	CLIP-seq
MIRT1930052	hsa-miR-4793-5p	CLIP-seq
MIRT1930053	hsa-miR-485-5p	CLIP-seq
MIRT1930054	hsa-miR-487a	CLIP-seq
MIRT1930055	hsa-miR-570	CLIP-seq
MIRT1930056	hsa-miR-635	CLIP-seq
MIRT1930057	hsa-miR-648	CLIP-seq
MIRT1930058	hsa-miR-650	CLIP-seq
MIRT779498	hsa-miR-760	CLIP-seq
MIRT1930059	hsa-miR-940	CLIP-seq
MIRT2170834	hsa-miR-1237	CLIP-seq
MIRT779433	hsa-miR-1243	CLIP-seq
MIRT2170835	hsa-miR-1248	CLIP-seq
MIRT2170836	hsa-miR-15a	CLIP-seq
MIRT2170837	hsa-miR-15b	CLIP-seq
MIRT2170838	hsa-miR-16	CLIP-seq
MIRT2170839	hsa-miR-185	CLIP-seq
MIRT2170840	hsa-miR-195	CLIP-seq
MIRT2170841	hsa-miR-3065-3p	CLIP-seq
MIRT2170842	hsa-miR-3127-5p	CLIP-seq
MIRT1930041	hsa-miR-3591-5p	CLIP-seq
MIRT2170843	hsa-miR-3616-3p	CLIP-seq
MIRT2170844	hsa-miR-3667-3p	CLIP-seq
MIRT2170845	hsa-miR-378g	CLIP-seq
MIRT2170846	hsa-miR-382	CLIP-seq
MIRT2170847	hsa-miR-424	CLIP-seq
MIRT779464	hsa-miR-4270	CLIP-seq
MIRT2170848	hsa-miR-4283	CLIP-seq
MIRT2170849	hsa-miR-4306	CLIP-seq
MIRT779468	hsa-miR-4434	CLIP-seq
MIRT779469	hsa-miR-4436b-3p	CLIP-seq
MIRT779470	hsa-miR-4441	CLIP-seq
MIRT2170850	hsa-miR-4446-3p	CLIP-seq
MIRT2170851	hsa-miR-4489	CLIP-seq
MIRT2170852	hsa-miR-4492	CLIP-seq
MIRT2170853	hsa-miR-4498	CLIP-seq
MIRT779474	hsa-miR-4514	CLIP-seq
MIRT779475	hsa-miR-4516	CLIP-seq
MIRT2170854	hsa-miR-4524	CLIP-seq
MIRT779476	hsa-miR-4531	CLIP-seq
MIRT2170855	hsa-miR-4644	CLIP-seq
MIRT2170856	hsa-miR-4659a-3p	CLIP-seq
MIRT2170857	hsa-miR-4659a-5p	CLIP-seq
MIRT2170858	hsa-miR-4659b-3p	CLIP-seq
MIRT2170859	hsa-miR-4659b-5p	CLIP-seq
MIRT779478	hsa-miR-4692	CLIP-seq
MIRT2170860	hsa-miR-4710	CLIP-seq
MIRT2170861	hsa-miR-4721	CLIP-seq
MIRT779484	hsa-miR-4728-5p	CLIP-seq
MIRT1930049	hsa-miR-4731-5p	CLIP-seq
MIRT2170862	hsa-miR-4776-3p	CLIP-seq
MIRT779490	hsa-miR-4797-5p	CLIP-seq
MIRT1930053	hsa-miR-485-5p	CLIP-seq
MIRT2170863	hsa-miR-496	CLIP-seq
MIRT2170864	hsa-miR-497	CLIP-seq
MIRT2170865	hsa-miR-503	CLIP-seq
MIRT779495	hsa-miR-582-3p	CLIP-seq
MIRT2170866	hsa-miR-646	CLIP-seq
MIRT779498	hsa-miR-760	CLIP-seq
MIRT2170867	hsa-miR-762	CLIP-seq
MIRT1930059	hsa-miR-940	CLIP-seq
MIRT2384115	hsa-miR-3160-5p	CLIP-seq
MIRT2435311	hsa-miR-1251	CLIP-seq
MIRT2435312	hsa-miR-21	CLIP-seq
MIRT1930042	hsa-miR-3612	CLIP-seq
MIRT2435313	hsa-miR-4715-3p	CLIP-seq
MIRT2435314	hsa-miR-590-5p	CLIP-seq
MIRT1930058	hsa-miR-650	CLIP-seq
MIRT2435315	hsa-miR-941	CLIP-seq
MIRT2170839	hsa-miR-185	CLIP-seq
MIRT2170842	hsa-miR-3127-5p	CLIP-seq
MIRT2170843	hsa-miR-3616-3p	CLIP-seq
MIRT2443599	hsa-miR-3689a-3p	CLIP-seq
MIRT2443600	hsa-miR-3689c	CLIP-seq
MIRT779464	hsa-miR-4270	CLIP-seq
MIRT2170849	hsa-miR-4306	CLIP-seq
MIRT2443601	hsa-miR-4426	CLIP-seq
MIRT779470	hsa-miR-4441	CLIP-seq
MIRT2170855	hsa-miR-4644	CLIP-seq
MIRT2443602	hsa-miR-4647	CLIP-seq
MIRT2443603	hsa-miR-4662b	CLIP-seq
MIRT779484	hsa-miR-4728-5p	CLIP-seq
MIRT2473474	hsa-miR-150	CLIP-seq
MIRT779443	hsa-miR-1915	CLIP-seq
MIRT2473475	hsa-miR-224	CLIP-seq
MIRT779451	hsa-miR-3145-5p	CLIP-seq
MIRT2473476	hsa-miR-3671	CLIP-seq
MIRT2473477	hsa-miR-4713-5p	CLIP-seq
MIRT2473478	hsa-miR-4726-3p	CLIP-seq
MIRT2473479	hsa-miR-483-3p	CLIP-seq
MIRT2473480	hsa-miR-532-3p	CLIP-seq
MIRT2473481	hsa-miR-668	CLIP-seq
MIRT2473474	hsa-miR-150	CLIP-seq
MIRT779443	hsa-miR-1915	CLIP-seq
MIRT2473475	hsa-miR-224	CLIP-seq
MIRT779451	hsa-miR-3145-5p	CLIP-seq
MIRT2473476	hsa-miR-3671	CLIP-seq
MIRT2170846	hsa-miR-382	CLIP-seq
MIRT2170857	hsa-miR-4659a-5p	CLIP-seq
MIRT2170859	hsa-miR-4659b-5p	CLIP-seq
MIRT2473477	hsa-miR-4713-5p	CLIP-seq
MIRT2473478	hsa-miR-4726-3p	CLIP-seq
MIRT2170862	hsa-miR-4776-3p	CLIP-seq
MIRT2473479	hsa-miR-483-3p	CLIP-seq
MIRT2473480	hsa-miR-532-3p	CLIP-seq
MIRT2473481	hsa-miR-668	CLIP-seq

Show/Hide all(42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
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	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001501	Process	Skeletal system development	NAS	11106354
GO:0001942	Process	Hair follicle development	IMP	19692347
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	11137991
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19692347
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11137991
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048565	Process	Digestive tract development	IEA
GO:0048666	Process	Neuron development	IBA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0071837	Function	HMG box domain binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
605420	450	ENSG00000052850

Protein

UniProt ID

Q9H161

Protein name

Homeobox protein aristaless-like 4

Protein function

Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.

PDB

2M0C , 8OSB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	215 → 271	Homeodomain	Domain
PF03826	OAR	387 → 405	OAR motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Expression is likely to be restricted to bone. Found in parietal bone.

Sequence

MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDA
KSRARYGAGQQDLATPLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQP
HLYLQRGACKTPPDGSLKLQEGSSGHSAALQVPCYAKESSLGEPELPPDSDTVGMDSSYL
SVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNRTTFTSYQLEELEKVFQKTHYPD
VYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFGQMQQVRTHFSTAYELPLLTRAENY
AQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFLSVSGAGSHVG
QTHMGSLFGAASLSPGLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT

Sequence length

411

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontonasal dysplasia with alopecia and genital anomaly	rs267606653, rs587777701, rs876657391, rs869320717	N/A
Parietal Foramina	parietal foramina 2	rs387906325, rs587777700, rs587777702, rs104894191, rs104894192, rs104894193, rs587776614, rs104894196, rs104894197	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast cancer	Breast cancer	N/A	N/A	GWAS
Craniosynostosis	Craniosynostosis 5, susceptibility to	N/A	N/A	ClinVar
Gout	Gout	N/A	N/A	GWAS

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bladder Exstrophy and Epispadias Complex	Associate	32385972
Carcinogenesis	Associate	29991755
Carcinoma Hepatocellular	Inhibit	28081728
Central Nervous System Vascular Malformations	Associate	15569759
Colorectal Neoplasms	Associate	28540987, 28700744, 33504902, 35477541, 37881109
Craniosynostoses	Associate	22829454, 34586326
Encephalocele	Associate	16319823
Intellectual Disability	Associate	16319823
Malformations of Cortical Development	Associate	15569759
Neoplasm Metastasis	Associate	29991755
Neoplasms	Associate	28081728, 28540987
Ovarian Diseases	Associate	31646556
Parietal Foramina	Associate	15569759, 16319823, 30487643, 36555772
Parietal Foramina 2	Associate	15569759
Pathological Conditions Anatomical	Associate	16319823
Polyps	Associate	20140221
Potocki Shaffer syndrome	Stimulate	33836758
Precancerous Conditions	Associate	20140221
Recombinant chromosome 8 syndrome	Associate	39482003
Skull Neoplasms	Associate	16319823
Urogenital Abnormalities	Associate	32385972

ALX4 (ALX homeobox 4)