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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	92255
Gene name	LMBR1 domain containing 2
Gene symbol	LMBRD2
Synonyms (NCBI Gene)	DENBA
Chromosome	5
Chromosome location	5p13.2

Show/Hide all (97)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018676	hsa-miR-335-5p	Microarray	18185580
MIRT724023	hsa-miR-548at-5p	HITS-CLIP	19536157
MIRT724022	hsa-miR-590-3p	HITS-CLIP	19536157
MIRT724021	hsa-miR-4433b-3p	HITS-CLIP	19536157
MIRT724019	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT724020	hsa-miR-4775	HITS-CLIP	19536157
MIRT724018	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT656732	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT656731	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT656730	hsa-miR-544a	HITS-CLIP	23824327
MIRT656729	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT450280	hsa-miR-33b-3p	PAR-CLIP	22100165
MIRT450279	hsa-miR-515-3p	PAR-CLIP	22100165
MIRT450278	hsa-miR-519e-3p	PAR-CLIP	22100165
MIRT450277	hsa-miR-3117-5p	PAR-CLIP	22100165
MIRT450276	hsa-miR-514a-3p	PAR-CLIP	22100165
MIRT450275	hsa-miR-514b-3p	PAR-CLIP	22100165
MIRT450274	hsa-miR-129-5p	PAR-CLIP	22100165
MIRT724023	hsa-miR-548at-5p	HITS-CLIP	19536157
MIRT724022	hsa-miR-590-3p	HITS-CLIP	19536157
MIRT724021	hsa-miR-4433b-3p	HITS-CLIP	19536157
MIRT724019	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT724020	hsa-miR-4775	HITS-CLIP	19536157
MIRT724018	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT656732	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT656731	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT656730	hsa-miR-544a	HITS-CLIP	23824327
MIRT656729	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT450280	hsa-miR-33b-3p	PAR-CLIP	22100165
MIRT450279	hsa-miR-515-3p	PAR-CLIP	22100165
MIRT450278	hsa-miR-519e-3p	PAR-CLIP	22100165
MIRT450277	hsa-miR-3117-5p	PAR-CLIP	22100165
MIRT450276	hsa-miR-514a-3p	PAR-CLIP	22100165
MIRT450275	hsa-miR-514b-3p	PAR-CLIP	22100165
MIRT450274	hsa-miR-129-5p	PAR-CLIP	22100165
MIRT1111485	hsa-miR-181a	CLIP-seq
MIRT1111486	hsa-miR-181b	CLIP-seq
MIRT1111487	hsa-miR-181c	CLIP-seq
MIRT1111488	hsa-miR-181d	CLIP-seq
MIRT1111489	hsa-miR-3122	CLIP-seq
MIRT1111490	hsa-miR-3153	CLIP-seq
MIRT1111491	hsa-miR-325	CLIP-seq
MIRT1111492	hsa-miR-3913-5p	CLIP-seq
MIRT1111493	hsa-miR-4262	CLIP-seq
MIRT1111494	hsa-miR-4668-5p	CLIP-seq
MIRT1111495	hsa-miR-552	CLIP-seq
MIRT1111496	hsa-miR-628-3p	CLIP-seq
MIRT1111497	hsa-miR-653	CLIP-seq
MIRT1111498	hsa-miR-654-3p	CLIP-seq
MIRT1111499	hsa-miR-9	CLIP-seq
MIRT1111500	hsa-miR-935	CLIP-seq
MIRT2031130	hsa-miR-3942-5p	CLIP-seq
MIRT2031131	hsa-miR-4499	CLIP-seq
MIRT2031132	hsa-miR-4703-5p	CLIP-seq
MIRT1111500	hsa-miR-935	CLIP-seq
MIRT2261852	hsa-miR-1206	CLIP-seq
MIRT2261853	hsa-miR-1208	CLIP-seq
MIRT2261854	hsa-miR-1304	CLIP-seq
MIRT2261855	hsa-miR-136	CLIP-seq
MIRT1111485	hsa-miR-181a	CLIP-seq
MIRT1111486	hsa-miR-181b	CLIP-seq
MIRT1111487	hsa-miR-181c	CLIP-seq
MIRT1111488	hsa-miR-181d	CLIP-seq
MIRT1111489	hsa-miR-3122	CLIP-seq
MIRT2261856	hsa-miR-3125	CLIP-seq
MIRT1111490	hsa-miR-3153	CLIP-seq
MIRT1111492	hsa-miR-3913-5p	CLIP-seq
MIRT2261857	hsa-miR-3916	CLIP-seq
MIRT2261858	hsa-miR-3976	CLIP-seq
MIRT1111493	hsa-miR-4262	CLIP-seq
MIRT2261859	hsa-miR-4420	CLIP-seq
MIRT1111494	hsa-miR-4668-5p	CLIP-seq
MIRT2261860	hsa-miR-4672	CLIP-seq
MIRT2261861	hsa-miR-4795-3p	CLIP-seq
MIRT2261862	hsa-miR-5096	CLIP-seq
MIRT1111495	hsa-miR-552	CLIP-seq
MIRT2261863	hsa-miR-582-5p	CLIP-seq
MIRT2261864	hsa-miR-877	CLIP-seq
MIRT2261865	hsa-miR-892a	CLIP-seq
MIRT1111499	hsa-miR-9	CLIP-seq
MIRT1111500	hsa-miR-935	CLIP-seq
MIRT2561799	hsa-miR-1252	CLIP-seq
MIRT2561800	hsa-miR-1283	CLIP-seq
MIRT2561801	hsa-miR-361-3p	CLIP-seq
MIRT2561802	hsa-miR-3614-5p	CLIP-seq
MIRT2561803	hsa-miR-3616-5p	CLIP-seq
MIRT2561804	hsa-miR-3647-5p	CLIP-seq
MIRT2031131	hsa-miR-4499	CLIP-seq
MIRT2561805	hsa-miR-4635	CLIP-seq
MIRT2561806	hsa-miR-4668-3p	CLIP-seq
MIRT2561807	hsa-miR-4789-5p	CLIP-seq
MIRT2561808	hsa-miR-520d-5p	CLIP-seq
MIRT2561809	hsa-miR-524-5p	CLIP-seq
MIRT2561810	hsa-miR-548c-3p	CLIP-seq
MIRT2561811	hsa-miR-548u	CLIP-seq
MIRT2561812	hsa-miR-573	CLIP-seq
MIRT2561813	hsa-miR-605	CLIP-seq

Show/Hide all (6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0071875	Process	Adrenergic receptor signaling pathway	IBA
GO:0071875	Process	Adrenergic receptor signaling pathway	IMP	28388415

MIM	HGNC	e!Ensembl
619490	25287	ENSG00000164187

Q68DH5

Protein name

G-protein coupled receptor-associated protein LMBRD2 (LMBR1 domain-containing protein 2)

Protein function

Recruited to ligand-activated beta-2 adrenergic receptor/ADRB2, it negatively regulates the adrenergic receptor signaling pathway (PubMed:28388415). May also regulate other G-protein coupled receptors including type-1 angiotensin II receptor/AGT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04791	LMBR1	1 → 549	LMBR1-like membrane protein	Family

Sequence

MSGAALGLEIVFVFFLALFLLHRYGDFKKQHRLVIIGTLLAWYLCFLIVFILPLDVSTTI
YNRCKHAAANSSPPENSNITGLYATANPVPSQHPCFKPWSYIPDGIMPIFWRVVYWTSQF
LTWILLPFMQSYARSGGFSITGKIKTALIENAIYYGTYLLIFGAFLIYVAVNPHLHLEWN
QLQTIGIAAANTWGLFLLVLLLGYGLVEIPRSYWNGAKRGYLLMKTYFKAAKLMTEKADA
EENLEDAMEEVRKVNESIKYNHPLRKCVDTILKKCPTEYQEKMGRNMDDYEDFDEKHSIY
PSEKSLVKLHKQVIYSVQRHRRTQVQWQILLEQAFYLEDVAKNETSATHQFVHTFQSPEP
ENRFIQYFYNPTFEWYWECLLRPWFYKILAVVLSIFSVIVVWSECTFFSTTPVLSLFAVF
IQLAEKTYNYIYIEIACFLSIFFLSICVYSTVFRIRVFNYYYLASHHQTDAYSLLFSGML
FCRLTPPLCLNFLGLTHMDSSISHKNTQPTAYTSIMGSMKVLSFIADGFYIYYPMLVVIL
CIATYFSLGTRCLNLLGFQQFMGDDDMTSDLVNEGKELIRKEKRKRQRQEEGENRRREWK
ERYGHNREDSTRNRNIHTDPKESNFSDVNTNRSAFKYTRANNRTERDRIELLQDAEPLDF
NAETFTDDPLESESGRYQPGGRYLSMSRSDIFNDV

Sequence length

695

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
brain structure abnormalities	Likely pathogenic	rs1743709062	RCV001261973	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay	Likely pathogenic	rs1743709062	RCV001261973	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay with variable neurologic and brain abnormalities	Likely pathogenic; Pathogenic	rs2111857835, rs2111907902, rs2111911679, rs1743709062	RCV001810513 RCV001810514 RCV002273286 RCV003151845	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysmorphic features	Likely pathogenic	rs1743709062	RCV001261973	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LMBRD2-related disorder	Likely pathogenic; Pathogenic	rs2111857835, rs2111907902	RCV004536326 RCV004542115	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor delay	Likely pathogenic	rs1743709062	RCV001261973	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2111857835, rs2111857806	RCV002276901 RCV002277681	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brain Diseases	Brain disease	Pubtator	32820033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32820033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32820033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32820033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	32820033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	32820033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32820033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

LMBRD2 (LMBR1 domain containing 2)