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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3910
Gene name Gene Name - the full gene name approved by the HGNC.	Laminin subunit alpha 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LAMA4
Synonyms (NCBI Gene) Gene synonyms aliases	CMD1JJ, LAMA3, LAMA4*-1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q21
Summary Summary of gene provided in NCBI Entrez Gene.	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, n

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3752579	A>T	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs145897390	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs150084275	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200112094	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs201209516	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs371906362	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs782010849	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs863223690	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant

Show/Hide all(116)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022144	hsa-miR-124-3p	Microarray	18668037
MIRT038757	hsa-miR-93-3p	CLASH	23622248
MIRT462261	hsa-miR-4274	PAR-CLIP	23592263
MIRT462260	hsa-miR-6854-5p	PAR-CLIP	23592263
MIRT462259	hsa-miR-7705	PAR-CLIP	23592263
MIRT462258	hsa-miR-922	PAR-CLIP	23592263
MIRT462257	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT462256	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT462255	hsa-miR-761	PAR-CLIP	23592263
MIRT462254	hsa-miR-103b	PAR-CLIP	23592263
MIRT462253	hsa-miR-3665	PAR-CLIP	23592263
MIRT462252	hsa-miR-657	PAR-CLIP	23592263
MIRT462251	hsa-miR-4291	PAR-CLIP	23592263
MIRT462261	hsa-miR-4274	PAR-CLIP	23592263
MIRT462260	hsa-miR-6854-5p	PAR-CLIP	23592263
MIRT462259	hsa-miR-7705	PAR-CLIP	23592263
MIRT462258	hsa-miR-922	PAR-CLIP	23592263
MIRT462257	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT462256	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT462255	hsa-miR-761	PAR-CLIP	23592263
MIRT462254	hsa-miR-103b	PAR-CLIP	23592263
MIRT462253	hsa-miR-3665	PAR-CLIP	23592263
MIRT462252	hsa-miR-657	PAR-CLIP	23592263
MIRT462251	hsa-miR-4291	PAR-CLIP	23592263
MIRT1103250	hsa-miR-3183	CLIP-seq
MIRT1103251	hsa-miR-4723-3p	CLIP-seq
MIRT1103252	hsa-miR-590-3p	CLIP-seq
MIRT1103253	hsa-miR-1273f	CLIP-seq
MIRT1103254	hsa-miR-1297	CLIP-seq
MIRT1103255	hsa-miR-2467-3p	CLIP-seq
MIRT1103256	hsa-miR-26a	CLIP-seq
MIRT1103257	hsa-miR-26b	CLIP-seq
MIRT1103258	hsa-miR-3678-3p	CLIP-seq
MIRT1103259	hsa-miR-4272	CLIP-seq
MIRT1103260	hsa-miR-4465	CLIP-seq
MIRT1103261	hsa-miR-450b-3p	CLIP-seq
MIRT1103262	hsa-miR-4528	CLIP-seq
MIRT1103263	hsa-miR-4695-3p	CLIP-seq
MIRT1103264	hsa-miR-4713-3p	CLIP-seq
MIRT1103265	hsa-miR-4756-3p	CLIP-seq
MIRT1103266	hsa-miR-634	CLIP-seq
MIRT1103267	hsa-miR-638	CLIP-seq
MIRT1103268	hsa-miR-769-3p	CLIP-seq
MIRT1103262	hsa-miR-4528	CLIP-seq
MIRT2028226	hsa-miR-122	CLIP-seq
MIRT2028227	hsa-miR-3135b	CLIP-seq
MIRT2028228	hsa-miR-3652	CLIP-seq
MIRT2028229	hsa-miR-4423-5p	CLIP-seq
MIRT2028230	hsa-miR-4430	CLIP-seq
MIRT2442319	hsa-miR-3166	CLIP-seq
MIRT1103258	hsa-miR-3678-3p	CLIP-seq
MIRT2442320	hsa-miR-4771	CLIP-seq
MIRT2028226	hsa-miR-122	CLIP-seq
MIRT2452853	hsa-miR-1267	CLIP-seq
MIRT2028227	hsa-miR-3135b	CLIP-seq
MIRT2028228	hsa-miR-3652	CLIP-seq
MIRT2452854	hsa-miR-3664-5p	CLIP-seq
MIRT2028229	hsa-miR-4423-5p	CLIP-seq
MIRT2028230	hsa-miR-4430	CLIP-seq
MIRT2452855	hsa-miR-4639-3p	CLIP-seq
MIRT1103263	hsa-miR-4695-3p	CLIP-seq
MIRT2559722	hsa-miR-1184	CLIP-seq
MIRT2028226	hsa-miR-122	CLIP-seq
MIRT2559723	hsa-miR-1226	CLIP-seq
MIRT2452853	hsa-miR-1267	CLIP-seq
MIRT2559724	hsa-miR-197	CLIP-seq
MIRT2559725	hsa-miR-205	CLIP-seq
MIRT2559726	hsa-miR-214	CLIP-seq
MIRT2559727	hsa-miR-2964a-3p	CLIP-seq
MIRT2559728	hsa-miR-300	CLIP-seq
MIRT2028227	hsa-miR-3135b	CLIP-seq
MIRT2442319	hsa-miR-3166	CLIP-seq
MIRT2028228	hsa-miR-3652	CLIP-seq
MIRT2452854	hsa-miR-3664-5p	CLIP-seq
MIRT1103258	hsa-miR-3678-3p	CLIP-seq
MIRT2559729	hsa-miR-381	CLIP-seq
MIRT2559730	hsa-miR-4252	CLIP-seq
MIRT2559731	hsa-miR-4418	CLIP-seq
MIRT2028229	hsa-miR-4423-5p	CLIP-seq
MIRT2028230	hsa-miR-4430	CLIP-seq
MIRT2452855	hsa-miR-4639-3p	CLIP-seq
MIRT1103263	hsa-miR-4695-3p	CLIP-seq
MIRT2559732	hsa-miR-4733-3p	CLIP-seq
MIRT2442320	hsa-miR-4771	CLIP-seq
MIRT2559733	hsa-miR-483-3p	CLIP-seq
MIRT2559734	hsa-miR-509-3-5p	CLIP-seq
MIRT2559735	hsa-miR-509-5p	CLIP-seq
MIRT2559736	hsa-miR-5096	CLIP-seq
MIRT2559722	hsa-miR-1184	CLIP-seq
MIRT2028226	hsa-miR-122	CLIP-seq
MIRT2559723	hsa-miR-1226	CLIP-seq
MIRT2452853	hsa-miR-1267	CLIP-seq
MIRT2559724	hsa-miR-197	CLIP-seq
MIRT2559725	hsa-miR-205	CLIP-seq
MIRT2559726	hsa-miR-214	CLIP-seq
MIRT2559727	hsa-miR-2964a-3p	CLIP-seq
MIRT2559728	hsa-miR-300	CLIP-seq
MIRT2028227	hsa-miR-3135b	CLIP-seq
MIRT2442319	hsa-miR-3166	CLIP-seq
MIRT2683722	hsa-miR-3545-3p	CLIP-seq
MIRT2028228	hsa-miR-3652	CLIP-seq
MIRT2452854	hsa-miR-3664-5p	CLIP-seq
MIRT1103258	hsa-miR-3678-3p	CLIP-seq
MIRT2559729	hsa-miR-381	CLIP-seq
MIRT2559730	hsa-miR-4252	CLIP-seq
MIRT2559731	hsa-miR-4418	CLIP-seq
MIRT2028229	hsa-miR-4423-5p	CLIP-seq
MIRT2028230	hsa-miR-4430	CLIP-seq
MIRT2452855	hsa-miR-4639-3p	CLIP-seq
MIRT1103263	hsa-miR-4695-3p	CLIP-seq
MIRT2559732	hsa-miR-4733-3p	CLIP-seq
MIRT2442320	hsa-miR-4771	CLIP-seq
MIRT2559733	hsa-miR-483-3p	CLIP-seq
MIRT2559734	hsa-miR-509-3-5p	CLIP-seq
MIRT2559735	hsa-miR-509-5p	CLIP-seq
MIRT2559736	hsa-miR-5096	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 27068509, 27559042, 28675934
GO:0005201	Function	Extracellular matrix structural constituent	TAS	7959779
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	14557481
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	TAS	7959779
GO:0007155	Process	Cell adhesion	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 21362503
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	28973559

MIM	HGNC	e!Ensembl
600133	6484	ENSG00000112769

Protein

UniProt ID

Q16363

Protein name

Laminin subunit alpha-4 (Laminin-14 subunit alpha) (Laminin-8 subunit alpha) (Laminin-9 subunit alpha)

Protein function

Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00053	Laminin_EGF	82 → 129	Laminin EGF domain	Domain
PF00053	Laminin_EGF	132 → 184	Laminin EGF domain	Domain
PF00053	Laminin_EGF	187 → 241	Laminin EGF domain	Domain
PF06008	Laminin_I	298 → 555	Laminin Domain I	Coiled-coil
PF06009	Laminin_II	734 → 861	Laminin Domain II	Coiled-coil
PF02210	Laminin_G_2	874 → 1014	Laminin G domain	Domain
PF02210	Laminin_G_2	1079 → 1210	Laminin G domain	Domain
PF02210	Laminin_G_2	1263 → 1379	Laminin G domain	Domain
PF02210	Laminin_G_2	1499 → 1626	Laminin G domain	Domain
PF02210	Laminin_G_2	1676 → 1801	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Detected in fibroblasts and urine (at protein level) (PubMed:25326458, PubMed:36213313, PubMed:37453717). In adult, strong expression in heart, lung, ovary small and large inte

Sequence

MALSSAWRSVLPLWLLWSAACSRAASGDDNAFPFDIEGSSAVGRQDPPETSEPRVALGRL
PPAAEKCNAGFFHTLSGECVPCDCNGNSNECLDGSGYCVHCQRNTTGEHCEKCLDGYIGD
SIRGAPQFCQPCPCPLPHLANFAESCYRKNGAVRCICNENYAGPNCERCAPGYYGNPLLI
GSTCKKCDCSGNSDPNLIFEDCDEVTGQCRNCLRNTTGFKCERCAPGYYGDARIAKNCAV
CNCGGGPCDSVTGECLEEGFEPPTGMDCPTISCDKCVWDLTDALRLAALSIEEGKSGVLS
VSSGAAAHRHVNEINATIYLLKTKLSERENQYALRKIQINNAENTMKSLLSDVEELVEKE
NQASRKGQLVQKESMDTINHASQLVEQAHDMRDKIQEINNKMLYYGEEHELSPKEISEKL
VLAQKMLEEIRSRQPFFTQRELVDEEADEAYELLSQAESWQRLHNETRTLFPVVLEQLDD
YNAKLSDLQEALDQALNYVRDAEDMNRATAARQRDHEKQQERVREQMEVVNMSLSTSADS
LTTPRLTLSELDDIIKNASGIYAEIDGAKSELQVKLSNLSNLSHDLVQEAIDHAQDLQQE
ANELSRKLHSSDMNGLVQKALDASNVYENIVNYVSEANETAEFALNTTDRIYDAVSGIDT
QIIYHKDESENLLNQARELQAKAESSSDEAVADTSRRVGGALARKSALKTRLSDAVKQLQ
AAERGDAQQRLGQSRLITEEANRTTMEVQQATAPMANNLTNWSQNLQHFDSSAYNTAVNS
ARDAVRNLTEVVPQLLDQLRTVEQKRPASNVSASIQRIRELIAQTRSVASKIQVSMMFDG
QSAVEVHSRTSMDDLKAFTSLSLYMKPPVKRPELTETADQFILYLGSKNAKKEYMGLAIK
NDNLVYVYNLGTKDVEIPLDSKPVSSWPAYFSIVKIERVGKHGKVFLTVPSLSSTAEEKF
IKKGEFSGDDSLLDLDPEDTVFYVGGVPSNFKLPTSLNLPGFVGCLELATLNNDVISLYN
FKHIYNMDPSTSVPCARDKLAFTQSRAASYFFDGSGYAVVRDITRRGKFGQVTRFDIEVR
TPADNGLILLMVNGSMFFRLEMRNGYLHVFYDFGFSGGPVHLEDTLKKAQINDAKYHEIS
IIYHNDKKMILVVDRRHVKSMDNEKMKIPFTDIYIGGAPPEILQSRALRAHLPLDINFRG
CMKGFQFQKKDFNLLEQTETLGVGYGCPEDSLISRRAYFNGQSFIASIQKISFFDGFEGG
FNFRTLQPNGLLFYYASGSDVFSISLDNGTVIMDVKGIKVQSVDKQYNDGLSHFVISSVS
PTRYELIVDKSRVGSKNPTKGKIEQTQASEKKFYFGGSPISAQYANFTGCISNAYFTRVD
RDVEVEDFQRYTEKVHTSLYECPIESSPLFLLHKKGKNLSKPKASQNKKGGKSKDAPSWD
PVALKLPERNTPRNSHCHLSNSPRAIEHAYQYGGTANSRQEFEHLKGDFGAKSQFSIRLR
TRSSHGMIFYVSDQEENDFMTLFLAHGRLVYMFNVGHKKLKIRSQEKYNDGLWHDVIFIR
ERSSGRLVIDGLRVLEESLPPTEATWKIKGPIYLGGVAPGKAVKNVQINSIYSFSGCLSN
LQLNGASITSASQTFSVTPCFEGPMETGTYFSTEGGYVVLDESFNIGLKFEIAFEVRPRS
SSGTLVHGHSVNGEYLNVHMKNGQVIVKVNNGIRDFSTSVTPKQSLCDGRWHRITVIRDS
NVVQLDVDSEVNHVVGPLNPKPIDHREPVFVGGVPESLLTPRLAPSKPFTGCIRHFVIDG
HPVSFSKAALVSGAVSINSCPAA

Sequence length

1823

Interactions

View interactions

Show/Hide Unknown Diseases (13)

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.
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
Atrial Fibrillation	familial atrial fibrillation	N/A	N/A	ClinVar
Bipolar Disorder	Bipolar disorder	N/A	N/A	GWAS
Brugada Syndrome	brugada syndrome	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy, left ventricular noncompaction cardiomyopathy	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Catecholaminergic Polymorphic Ventricular Tachycardia	Catecholaminergic polymorphic ventricular tachycardia 1	N/A	N/A	ClinVar
Dilated Cardiomyopathy	Dilated cardiomyopathy 1JJ, familial isolated dilated cardiomyopathy, Dilated cardiomyopathy 1S	N/A	N/A	ClinVar, GenCC
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1	N/A	N/A	ClinVar
Myopathy	dilated cardiomyopathy 1JJ, dilated cardiomyopathy	N/A	N/A	GenCC
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Spinocerebellar Ataxia	spinocerebellar ataxia type 19/22	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arrhythmogenic Right Ventricular Dysplasia	Associate	35526016
Arterial Occlusive Diseases	Stimulate	11854734
Asthma	Associate	34456632
Breast Neoplasms	Associate	34541602
Carcinoma Hepatocellular	Associate	33327879, 37051625
Carcinoma Renal Cell	Associate	31723229
Cardiomyopathies	Associate	35893073
Cardiomyopathy Dilated	Associate	30650640, 31024045
Cataract	Associate	31076560
Colorectal Neoplasms	Associate	29504916
Death	Associate	35893073
Endometrial Neoplasms	Associate	37612452
Esophageal Squamous Cell Carcinoma	Associate	36290884
Genetic Diseases Inborn	Associate	30650640
Glioma	Stimulate	29846705
Hamartoma	Associate	9060828
Heart Failure	Associate	35526016
Kashin Beck Disease	Associate	29242531
Neoplasm Metastasis	Stimulate	15987446
Neoplasm Metastasis	Associate	36539799
Neoplasms	Associate	29499737, 34414238, 34512203, 37612452
Neoplastic Syndromes Hereditary	Associate	35526016
Osteosarcoma	Associate	36539799
Ovarian Neoplasms	Associate	34512203
Plaque Atherosclerotic	Inhibit	36996622
Sarcoma	Associate	26055407
Stomach Neoplasms	Associate	34414238
Thromboembolism	Associate	35526016
Urinary Bladder Neoplasms	Associate	37694778
Warts	Associate	32038103

LAMA4 (laminin subunit alpha 4)