FRMD4B (FERM domain containing 4B)

Gene

• Entrez ID: 23150
• Gene name: FERM domain containing 4B
• Gene symbol: FRMD4B
• Synonyms (NCBI Gene): 6030440G05Rik, GRSP1
• Chromosome: 3
• Chromosome location: 3p14.1
• Summary: This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019072	hsa-miR-335-5p	Microarray	18185580
MIRT021453	hsa-miR-9-5p	Microarray	17612493
MIRT027864	hsa-miR-98-5p	Microarray	19088304
MIRT1004546	hsa-miR-1184	CLIP-seq
MIRT1004547	hsa-miR-1301	CLIP-seq
MIRT1004548	hsa-miR-2355-5p	CLIP-seq
MIRT1004549	hsa-miR-3164	CLIP-seq
MIRT1004550	hsa-miR-3614-5p	CLIP-seq
MIRT1004551	hsa-miR-3679-3p	CLIP-seq
MIRT1004552	hsa-miR-432	CLIP-seq
MIRT1004553	hsa-miR-4418	CLIP-seq
MIRT1004554	hsa-miR-4446-5p	CLIP-seq
MIRT1004555	hsa-miR-4453	CLIP-seq
MIRT1004556	hsa-miR-4521	CLIP-seq
MIRT1004557	hsa-miR-4538	CLIP-seq
MIRT1004558	hsa-miR-4633-3p	CLIP-seq
MIRT1004559	hsa-miR-4660	CLIP-seq
MIRT1004560	hsa-miR-4686	CLIP-seq
MIRT1004561	hsa-miR-495	CLIP-seq
MIRT1004562	hsa-miR-5047	CLIP-seq
MIRT1004563	hsa-miR-509-3-5p	CLIP-seq
MIRT1004564	hsa-miR-509-5p	CLIP-seq
MIRT1004565	hsa-miR-579	CLIP-seq
MIRT1004566	hsa-miR-606	CLIP-seq
MIRT1004567	hsa-miR-668	CLIP-seq
MIRT1004568	hsa-miR-890	CLIP-seq
MIRT1004550	hsa-miR-3614-5p	CLIP-seq
MIRT2231452	hsa-miR-1297	CLIP-seq
MIRT2231453	hsa-miR-200b	CLIP-seq
MIRT2231454	hsa-miR-200c	CLIP-seq
MIRT2231455	hsa-miR-26a	CLIP-seq
MIRT2231456	hsa-miR-26b	CLIP-seq
MIRT2231457	hsa-miR-323b-3p	CLIP-seq
MIRT2231458	hsa-miR-3647-3p	CLIP-seq
MIRT2231459	hsa-miR-4267	CLIP-seq
MIRT2231460	hsa-miR-4275	CLIP-seq
MIRT2231461	hsa-miR-4276	CLIP-seq
MIRT2231462	hsa-miR-429	CLIP-seq
MIRT2231463	hsa-miR-433	CLIP-seq
MIRT2231464	hsa-miR-4465	CLIP-seq
MIRT2231465	hsa-miR-4668-3p	CLIP-seq
MIRT2231466	hsa-miR-4771	CLIP-seq
MIRT2231467	hsa-miR-4775	CLIP-seq
MIRT2231468	hsa-miR-4799-5p	CLIP-seq
MIRT2231469	hsa-miR-499a-5p	CLIP-seq
MIRT2231470	hsa-miR-590-3p	CLIP-seq
MIRT2231471	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IEA

Other IDs

• MIM: 617467
• HGNC: 24886
• e!Ensembl: ENSG00000114541

Protein

• UniProt ID: Q9Y2L6
• Protein name: FERM domain-containing protein 4B (GRP1-binding protein GRSP1)
• Protein function: Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09379	FERM_N	63 → 125	FERM N-terminal domain	Domain
  PF00373	FERM_M	144 → 260	FERM central domain	Domain
  PF09380	FERM_C	264 → 365	FERM C-terminal PH-like domain	Domain
  PF11819	CUPID	395 → 529	Cytohesin Ubiquitin Protein Inducing Domain	Domain

• Sequence:

  MASVFMCGVEDLLFSGSRFVWNLTVSTLRRWYTERLRACHQVLRTWCGLQDVYQMTEGRH
  CQVHLLDDRRLELLVQPKLLARELLDLVASHFNLKEKEYFGITFIDDTGQQNWLQLDHRV
  LDHDLPKKPGPTILHFAVRFYIESISFLKDKTTVELFFLNAKACVHKGQIEVESETIFKL
  AAFILQEAKGDYTSDENARKDLKTLPAFPTKTLQEHPSLAYCEDRVIEHYLKIKGLTRGQ
  AVVQYMKIVEALPTYGVHYYAVKDKQGLPWWLGISYKGIGQYDIQDKVKPRKLFQWKQLE
  NLYFREKKFAVEVHDPRRISVSRRTFGQSGLFVQTWYANSSLIKSIWVMAISQHQFYLDR
  KQSKAKIPSARSLDEIAMDLTETGTQRASKLVTLETKSQFIMASNGSLISSGSQDSEVSE
  EQKREKILELKKKEKLLQEKLLKKVEELKKICLREAELTGKMPKEYPLNIGEKPPQVRRR
  VGTAFKLDDNLLPSEEDPALQELESNFLIQQKLVEAAKKLANEPDLCKTVKKKRKQDYTD
  AMKKLQEIENAINEYRIRCGKKPSQKATVLPEDIIPSESSSLSDTTTYDDPSDAFTFPGQ
  RSSSVPHSPRILPPKSLGIERIHFRKSSINEQFVDTRQSREMLSTHSSPYKTLERRPQGG
  RSMPTTPVLTRNAYSSSHLEPESSSQHCRQRSGSLESQSHLLSEMDSDKPFFSLSKSQRS
  SSTEILDDGSSYTSQSSTEYYCVTPVTGPYYTTQTLDTRTRGRRRSKKQNVSTSNSGSMP
  NLAQKDSLRNGVYSKSQEPPSSSYYIAGYTPYAECDFYYSGGYVYENDTEGQYSVNPSYR
  SSAHYGYERQRDYSRSFHEDEVDRVPHNPYATLRLPRKAAAKSEHITKNIHKALVAEHLR
  GWYQRASGQKDQGHSPQTSFDSDRGSQRCLGFAGLQVPCSPSSRASSYSSVSSTNASGNW
  RTQLTIGLSDYETPAHSSYTSCYGNVYNPLPSPSRQYTEISQLDGTDGNQLEDNLESSEQ
  RLFWHEDSKPGTLV

• Sequence length: 1034

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	25380588		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	20718813	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASDB_DG	20190752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	20190752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	BEFREE	24999842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	24999842	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	20124441		★☆☆☆☆ Found in Text Mining only
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	BEFREE	29947801		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	20124441		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	20124441	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29313708	Associate	★☆☆☆☆ Found in Text Mining only