PHLDB1 (pleckstrin homology like domain family B member 1)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 23187
• Gene name: Pleckstrin homology like domain family B member 1
• Gene symbol: PHLDB1
• Synonyms (NCBI Gene): LL5A, LL5alpha, OI23
• Chromosome: 11
• Chromosome location: 11q23.3

miRNA Show/Hide all (112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040852	hsa-miR-18a-3p	CLASH	23622248
MIRT1232074	hsa-miR-296-5p	CLIP-seq
MIRT1232075	hsa-miR-4437	CLIP-seq
MIRT1232076	hsa-miR-4645-5p	CLIP-seq
MIRT1232077	hsa-miR-4673	CLIP-seq
MIRT1232078	hsa-miR-4742-5p	CLIP-seq
MIRT1232079	hsa-miR-661	CLIP-seq
MIRT1232080	hsa-miR-200b	CLIP-seq
MIRT1232081	hsa-miR-200c	CLIP-seq
MIRT1232082	hsa-miR-203	CLIP-seq
MIRT1232083	hsa-miR-3128	CLIP-seq
MIRT1232084	hsa-miR-3153	CLIP-seq
MIRT1232085	hsa-miR-3160-3p	CLIP-seq
MIRT1232086	hsa-miR-331-3p	CLIP-seq
MIRT1232087	hsa-miR-3665	CLIP-seq
MIRT1232088	hsa-miR-3934	CLIP-seq
MIRT1232089	hsa-miR-3936	CLIP-seq
MIRT1232090	hsa-miR-4273	CLIP-seq
MIRT1232091	hsa-miR-429	CLIP-seq
MIRT1232092	hsa-miR-4428	CLIP-seq
MIRT1232093	hsa-miR-4470	CLIP-seq
MIRT1232094	hsa-miR-4475	CLIP-seq
MIRT1232095	hsa-miR-4649-3p	CLIP-seq
MIRT1232096	hsa-miR-4677-5p	CLIP-seq
MIRT1232097	hsa-miR-4724-5p	CLIP-seq
MIRT1232098	hsa-miR-520d-5p	CLIP-seq
MIRT1232099	hsa-miR-524-5p	CLIP-seq
MIRT1232100	hsa-miR-548l	CLIP-seq
MIRT1232101	hsa-miR-548n	CLIP-seq
MIRT2068111	hsa-miR-4656	CLIP-seq
MIRT2068112	hsa-miR-4731-5p	CLIP-seq
MIRT2068113	hsa-miR-136	CLIP-seq
MIRT2068114	hsa-miR-143	CLIP-seq
MIRT2068115	hsa-miR-3135b	CLIP-seq
MIRT2068116	hsa-miR-4770	CLIP-seq
MIRT2295465	hsa-miR-3145-5p	CLIP-seq
MIRT2593100	hsa-miR-1291	CLIP-seq
MIRT2593101	hsa-miR-1909	CLIP-seq
MIRT2593102	hsa-miR-2278	CLIP-seq
MIRT1232074	hsa-miR-296-5p	CLIP-seq
MIRT2593103	hsa-miR-3117-5p	CLIP-seq
MIRT1232084	hsa-miR-3153	CLIP-seq
MIRT2593104	hsa-miR-3176	CLIP-seq
MIRT2593105	hsa-miR-3179	CLIP-seq
MIRT2593106	hsa-miR-326	CLIP-seq
MIRT2593107	hsa-miR-328	CLIP-seq
MIRT2593108	hsa-miR-330-5p	CLIP-seq
MIRT2593109	hsa-miR-3591-5p	CLIP-seq
MIRT2593110	hsa-miR-361-3p	CLIP-seq
MIRT2593111	hsa-miR-3689d	CLIP-seq
MIRT2593112	hsa-miR-3922-3p	CLIP-seq
MIRT2593113	hsa-miR-4255	CLIP-seq
MIRT2593114	hsa-miR-4417	CLIP-seq
MIRT1232092	hsa-miR-4428	CLIP-seq
MIRT1232075	hsa-miR-4437	CLIP-seq
MIRT1232094	hsa-miR-4475	CLIP-seq
MIRT2593115	hsa-miR-4533	CLIP-seq
MIRT1232076	hsa-miR-4645-5p	CLIP-seq
MIRT2593116	hsa-miR-4646-5p	CLIP-seq
MIRT2593117	hsa-miR-4649-5p	CLIP-seq
MIRT1232077	hsa-miR-4673	CLIP-seq
MIRT2068112	hsa-miR-4731-5p	CLIP-seq
MIRT1232078	hsa-miR-4742-5p	CLIP-seq
MIRT2593118	hsa-miR-4747-5p	CLIP-seq
MIRT2593119	hsa-miR-4780	CLIP-seq
MIRT2593120	hsa-miR-524-3p	CLIP-seq
MIRT2593121	hsa-miR-525-3p	CLIP-seq
MIRT2593122	hsa-miR-541	CLIP-seq
MIRT2593123	hsa-miR-548ag	CLIP-seq
MIRT2593124	hsa-miR-548ai	CLIP-seq
MIRT1232100	hsa-miR-548l	CLIP-seq
MIRT1232101	hsa-miR-548n	CLIP-seq
MIRT2593125	hsa-miR-570	CLIP-seq
MIRT2593126	hsa-miR-654-5p	CLIP-seq
MIRT1232079	hsa-miR-661	CLIP-seq
MIRT2687848	hsa-miR-1207-3p	CLIP-seq
MIRT2593100	hsa-miR-1291	CLIP-seq
MIRT2593101	hsa-miR-1909	CLIP-seq
MIRT2593102	hsa-miR-2278	CLIP-seq
MIRT1232074	hsa-miR-296-5p	CLIP-seq
MIRT2593103	hsa-miR-3117-5p	CLIP-seq
MIRT2068115	hsa-miR-3135b	CLIP-seq
MIRT2593104	hsa-miR-3176	CLIP-seq
MIRT2593106	hsa-miR-326	CLIP-seq
MIRT2593107	hsa-miR-328	CLIP-seq
MIRT2593108	hsa-miR-330-5p	CLIP-seq
MIRT2593109	hsa-miR-3591-5p	CLIP-seq
MIRT2687849	hsa-miR-3612	CLIP-seq
MIRT2593110	hsa-miR-361-3p	CLIP-seq
MIRT2593111	hsa-miR-3689d	CLIP-seq
MIRT2593112	hsa-miR-3922-3p	CLIP-seq
MIRT2593113	hsa-miR-4255	CLIP-seq
MIRT2593114	hsa-miR-4417	CLIP-seq
MIRT1232092	hsa-miR-4428	CLIP-seq
MIRT1232075	hsa-miR-4437	CLIP-seq
MIRT2687850	hsa-miR-4443	CLIP-seq
MIRT2593115	hsa-miR-4533	CLIP-seq
MIRT1232076	hsa-miR-4645-5p	CLIP-seq
MIRT2593116	hsa-miR-4646-5p	CLIP-seq
MIRT1232077	hsa-miR-4673	CLIP-seq
MIRT2687851	hsa-miR-4691-5p	CLIP-seq
MIRT2068112	hsa-miR-4731-5p	CLIP-seq
MIRT1232078	hsa-miR-4742-5p	CLIP-seq
MIRT2593118	hsa-miR-4747-5p	CLIP-seq
MIRT2593119	hsa-miR-4780	CLIP-seq
MIRT2593120	hsa-miR-524-3p	CLIP-seq
MIRT2593121	hsa-miR-525-3p	CLIP-seq
MIRT2593122	hsa-miR-541	CLIP-seq
MIRT2593125	hsa-miR-570	CLIP-seq
MIRT2687852	hsa-miR-650	CLIP-seq
MIRT2593126	hsa-miR-654-5p	CLIP-seq
MIRT1232079	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21653829, 39251607
GO:0045180	Component	Basal cortex	IBA
GO:0045180	Component	Basal cortex	IDA	23940118
GO:0071711	Process	Basement membrane organization	IGI	23940118
GO:0071711	Process	Basement membrane organization	IMP	23940118

Other IDs

• MIM: 612834
• HGNC: 23697
• e!Ensembl: ENSG00000019144

Protein

• UniProt ID: Q86UU1
• Protein name: Pleckstrin homology-like domain family B member 1 (Protein LL5-alpha)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	1257 → 1369	PH domain	Domain

• Sequence:

  MDALNRNQIGPGCQTQTMVQKGPLDLIETGKGLKVQTDKPHLVSLGSGRLSTAITLLPLE
  EGRTVIGSAARDISLQGPGLAPEHCYIENLRGTLTLYPCGNACTIDGLPVRQPTRLTQGC
  MLCLGQSTFLRFNHPAEAKWMKSMIPAGGRAPGPPYSPVPAESESLVNGNHTPQTATRGP
  SACASHSSLVSSIEKDLQEIMDSLVLEEPGAAGKKPAATSPLSPMANGGRYLLSPPTSPG
  AMSVGSSYENTSPAFSPLSSPASSGSCASHSPSGQEPGPSVPPLVPARSSSYHLALQPPQ
  SRPSGARSESPRLSRKGGHERPPSPGLRGLLTDSPAATVLAEARRATESPRLGGQLPVVA
  ISLSEYPASGALSQPTSIPGSPKFQPPVPAPRNKIGTLQDRPPSPFREPPGSERVLTTSP
  SRQLVGRTFSDGLATRTLQPPESPRLGRRGLDSMRELPPLSPSLSRRALSPLPTRTTPDP
  KLNREVAESPRPRRWAAHGASPEDFSLTLGARGRRTRSPSPTLGESLAPHKGSFSGRLSP
  AYSLGSLTGASPCQSPCVQRKLSSGDLRVPVTRERKNSITEISDNEDDLLEYHRRQRQER
  LREQEMERLERQRLETILNLCAEYSRADGGPEAGELPSIGEATAALALAGRRPSRGLAGA
  SGRSSEEPGVATQRLWESMERSDEENLKEECSSTESTQQEHEDAPSTKLQGEVLALEEER
  AQVLGHVEQLKVRVKELEQQLQESAREAEMERALLQGEREAERALLQKEQKAVDQLQEKL
  VALETGIQKERDKEAEALETETKLFEDLEFQQLERESRVEEERELAGQGLLRSKAELLRS
  IAKRKERLAILDSQAGQIRAQAVQESERLARDKNASLQLLQKEKEKLTVLERRYHSLTGG
  RPFPKTTSTLKEMEKLLLPAVDLEQWYQELMAGLGTGPAAASPHSSPPPLPAKASRQLQV
  YRSKMDGEATSPLPRTRSGPLPSSSGSSSSSSQLSVATLGRSPSPKSALLTQNGTGSLPR
  NLAATLQDIETKRQLALQQKGQQVIEEQRRRLAELKQKAAAEAQCQWDALHGAAPFPAGP
  SGFPPLMHHSILHHLPAGRERGEEGEHAYDTLSLESSDSMETSISTGGNSACSPDNMSSA
  SGLDMGKIEEMEKMLKEAHAEKNRLMESREREMELRRQALEEERRRREQVERRLQSESAR
  RQQLVEKEVKMREKQFSQARPLTRYLPIRKEDFDLKTHIESSGHGVDTCLHVVLSSKVCR
  GYLVKMGGKIKSWKKRWFVFDRLKRTLSYYVDKHETKLKGVIYFQAIEEVYYDHLRSAAK
  KRFFRFTMVTESPNPALTFCVKTHDRLYYMVAPSAEAMRIWMDVIVTGAEGYTQFMN

• Sequence length: 1377

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Osteogenesis imperfecta, type 23	Pathogenic	rs2499526690, rs2499665135	RCV003444535 RCV003444536	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (13)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Bardet-Biedl syndrome	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	25920553	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	19578367, 21531791, 26424050, 28346443, 29743610, 30714141	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD, GWAS catalog CTD, GWAS catalog	19578367, 21531791, 26424050, 28346443, 29743610, 30714141, 32386320	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	34847940, 35661827, 37165447	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	32889700	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	31604244	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	32889700	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XXIII	—	Disgenet, HPO Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	36750564	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (21)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	Pubtator	20462933	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31215377		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	25920553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	19578367, 21531791, 26424050, 28346443		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21203894, 21350045, 26156397, 31721021		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26156397	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21203894, 21350045, 26156397		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	GWASCAT_DG	19578367, 21531791, 26424050, 28346443, 29743610, 30714141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	19578367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	GWASDB_DG	19578367, 21531791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	19578367, 20462933, 20847058, 21203894, 21356187, 23161787, 23280628, 23300798, 23361564, 23733245, 26610392, 36541697	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	19578367, 20212223, 20462933, 20847058, 21350045, 21356187, 21825990, 22886559, 23161787, 23300798, 24935770, 25713050, 26610392, 28886307, 30868356, 31721021		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30928649		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24001599		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	19578367		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31215377		★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	19578367		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23161787, 28886307		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	GWASDB_DG	23603763		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28134081		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MESD 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 5 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD. P3H1 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 5 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD. PPIB 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 5 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD. TMEM38B 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 5 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD. IFITM5 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 5 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MESD	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	0	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
P3H1	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	0	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
PPIB	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	0	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
TMEM38B	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	0	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
IFITM5	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	0	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]

Diseases Linked via Similar Genes

Desbuquois syndrome Linked via 5 of 5 related genesMESD, P3H1, PPIB, TMEM38B, IFITM5 Atypical femoral fracture Linked via 1 of 5 related genesTMEM38B Autism Linked via 1 of 5 related genesTMEM38B Schizophrenia Linked via 1 of 5 related genesTMEM38B Osteoporosis Linked via 1 of 5 related genesIFITM5

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Desbuquois syndrome	5	["MESD","P3H1","PPIB","TMEM38B","IFITM5"]
Atypical femoral fracture	1	["TMEM38B"]
Autism	1	["TMEM38B"]
Schizophrenia	1	["TMEM38B"]
Osteoporosis	1	["IFITM5"]