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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9758
Gene name	FERM and PDZ domain containing 4
Gene symbol	FRMPD4
Synonyms (NCBI Gene)	MRX104PDZD10PDZK10XLID104
Chromosome	X
Chromosome location	Xp22.2
Summary	This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of ex

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41303149	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs140515130	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs151079505	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs886038208	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038209	T>C	Pathogenic	Missense variant, coding sequence variant
rs1569057837	C>T	Pathogenic	Coding sequence variant, stop gained

191

Show/Hide all (191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045327	hsa-miR-185-5p	CLASH	23622248
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623891	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623889	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623880	hsa-miR-4279	HITS-CLIP	23824327
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623891	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623889	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623880	hsa-miR-4279	HITS-CLIP	23824327
MIRT573809	hsa-miR-4707-5p	PAR-CLIP	20371350
MIRT573808	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT573807	hsa-miR-519d-5p	PAR-CLIP	20371350
MIRT573806	hsa-miR-5695	PAR-CLIP	20371350
MIRT573805	hsa-miR-7515	PAR-CLIP	20371350
MIRT573803	hsa-miR-3179	PAR-CLIP	20371350
MIRT573804	hsa-miR-6763-3p	PAR-CLIP	20371350
MIRT573802	hsa-miR-515-5p	PAR-CLIP	20371350
MIRT573801	hsa-miR-519e-5p	PAR-CLIP	20371350
MIRT573800	hsa-miR-6864-5p	PAR-CLIP	20371350
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623891	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623889	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623880	hsa-miR-4279	HITS-CLIP	23824327
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623891	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623889	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623880	hsa-miR-4279	HITS-CLIP	23824327
MIRT573809	hsa-miR-4707-5p	PAR-CLIP	20371350
MIRT573808	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT573807	hsa-miR-519d-5p	PAR-CLIP	20371350
MIRT573806	hsa-miR-5695	PAR-CLIP	20371350
MIRT573805	hsa-miR-7515	PAR-CLIP	20371350
MIRT573803	hsa-miR-3179	PAR-CLIP	20371350
MIRT573804	hsa-miR-6763-3p	PAR-CLIP	20371350
MIRT573802	hsa-miR-515-5p	PAR-CLIP	20371350
MIRT573801	hsa-miR-519e-5p	PAR-CLIP	20371350
MIRT573800	hsa-miR-6864-5p	PAR-CLIP	20371350
MIRT1004868	hsa-miR-1269	CLIP-seq
MIRT1004869	hsa-miR-1269b	CLIP-seq
MIRT1004870	hsa-miR-1273g	CLIP-seq
MIRT1004871	hsa-miR-1288	CLIP-seq
MIRT1004872	hsa-miR-1298	CLIP-seq
MIRT1004873	hsa-miR-3121-5p	CLIP-seq
MIRT1004874	hsa-miR-3123	CLIP-seq
MIRT1004875	hsa-miR-3124-3p	CLIP-seq
MIRT1004876	hsa-miR-3133	CLIP-seq
MIRT1004877	hsa-miR-3143	CLIP-seq
MIRT1004878	hsa-miR-3144-5p	CLIP-seq
MIRT1004879	hsa-miR-3145-5p	CLIP-seq
MIRT1004880	hsa-miR-3152-5p	CLIP-seq
MIRT1004881	hsa-miR-3191	CLIP-seq
MIRT1004882	hsa-miR-323-5p	CLIP-seq
MIRT1004883	hsa-miR-3646	CLIP-seq
MIRT1004884	hsa-miR-3649	CLIP-seq
MIRT1004885	hsa-miR-3659	CLIP-seq
MIRT1004886	hsa-miR-371-5p	CLIP-seq
MIRT1004887	hsa-miR-371b-5p	CLIP-seq
MIRT1004888	hsa-miR-374a	CLIP-seq
MIRT1004889	hsa-miR-374b	CLIP-seq
MIRT1004890	hsa-miR-3942-5p	CLIP-seq
MIRT1004891	hsa-miR-4252	CLIP-seq
MIRT1004892	hsa-miR-4477a	CLIP-seq
MIRT1004893	hsa-miR-4511	CLIP-seq
MIRT1004894	hsa-miR-4515	CLIP-seq
MIRT1004895	hsa-miR-4517	CLIP-seq
MIRT1004896	hsa-miR-4652-5p	CLIP-seq
MIRT1004897	hsa-miR-4658	CLIP-seq
MIRT1004898	hsa-miR-4667-5p	CLIP-seq
MIRT1004899	hsa-miR-4700-5p	CLIP-seq
MIRT1004900	hsa-miR-4703-5p	CLIP-seq
MIRT1004901	hsa-miR-4729	CLIP-seq
MIRT1004902	hsa-miR-4740-5p	CLIP-seq
MIRT1004903	hsa-miR-4758-5p	CLIP-seq
MIRT1004904	hsa-miR-4769-3p	CLIP-seq
MIRT1004905	hsa-miR-4775	CLIP-seq
MIRT1004906	hsa-miR-4795-3p	CLIP-seq
MIRT1004907	hsa-miR-513c	CLIP-seq
MIRT1004908	hsa-miR-514b-5p	CLIP-seq
MIRT1004909	hsa-miR-520a-5p	CLIP-seq
MIRT1004910	hsa-miR-525-5p	CLIP-seq
MIRT1004911	hsa-miR-543	CLIP-seq
MIRT1004912	hsa-miR-556-5p	CLIP-seq
MIRT1004913	hsa-miR-563	CLIP-seq
MIRT1004914	hsa-miR-574-5p	CLIP-seq
MIRT1004915	hsa-miR-579	CLIP-seq
MIRT1004916	hsa-miR-590-3p	CLIP-seq
MIRT1004917	hsa-miR-664	CLIP-seq
MIRT1004918	hsa-miR-876-3p	CLIP-seq
MIRT1004919	hsa-miR-889	CLIP-seq
MIRT1920447	hsa-miR-325	CLIP-seq
MIRT1920448	hsa-miR-4635	CLIP-seq
MIRT1920449	hsa-miR-4760-3p	CLIP-seq
MIRT1920450	hsa-miR-526b	CLIP-seq
MIRT1920451	hsa-miR-628-3p	CLIP-seq
MIRT1997899	hsa-miR-1323	CLIP-seq
MIRT1997900	hsa-miR-3691-3p	CLIP-seq
MIRT1997901	hsa-miR-4699-3p	CLIP-seq
MIRT1997902	hsa-miR-4796-5p	CLIP-seq
MIRT1997903	hsa-miR-4803	CLIP-seq
MIRT1997904	hsa-miR-548o	CLIP-seq
MIRT1997905	hsa-miR-549	CLIP-seq
MIRT1997906	hsa-miR-601	CLIP-seq
MIRT1997907	hsa-miR-627	CLIP-seq
MIRT1997908	hsa-miR-628-5p	CLIP-seq
MIRT2231493	hsa-miR-135a	CLIP-seq
MIRT2231494	hsa-miR-135b	CLIP-seq
MIRT2231495	hsa-miR-3128	CLIP-seq
MIRT2231496	hsa-miR-3146	CLIP-seq
MIRT2231497	hsa-miR-34c-3p	CLIP-seq
MIRT2231498	hsa-miR-3622b-5p	CLIP-seq
MIRT2231499	hsa-miR-3663-3p	CLIP-seq
MIRT2231500	hsa-miR-4269	CLIP-seq
MIRT2231501	hsa-miR-4323	CLIP-seq
MIRT2231502	hsa-miR-4509	CLIP-seq
MIRT2231503	hsa-miR-4639-3p	CLIP-seq
MIRT2231504	hsa-miR-4720-5p	CLIP-seq
MIRT2231505	hsa-miR-4744	CLIP-seq
MIRT2231506	hsa-miR-4799-3p	CLIP-seq
MIRT2231507	hsa-miR-548ac	CLIP-seq
MIRT2231508	hsa-miR-548d-3p	CLIP-seq
MIRT2231509	hsa-miR-548p	CLIP-seq
MIRT2231510	hsa-miR-548z	CLIP-seq
MIRT1997907	hsa-miR-627	CLIP-seq
MIRT2231511	hsa-miR-659	CLIP-seq
MIRT2231512	hsa-miR-676	CLIP-seq
MIRT2388216	hsa-miR-1273f	CLIP-seq
MIRT2388217	hsa-miR-143	CLIP-seq
MIRT2388218	hsa-miR-3200-5p	CLIP-seq
MIRT2388219	hsa-miR-4251	CLIP-seq
MIRT2388220	hsa-miR-4329	CLIP-seq
MIRT2388221	hsa-miR-4663	CLIP-seq
MIRT2388222	hsa-miR-4679	CLIP-seq
MIRT2388223	hsa-miR-4708-5p	CLIP-seq
MIRT2388224	hsa-miR-4728-3p	CLIP-seq
MIRT2388225	hsa-miR-4770	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19118189, 22074847, 24550280, 29267967, 30126976
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	19118189
GO:0008289	Function	Lipid binding	IEA
GO:0032991	Component	Protein-containing complex	IDA	22074847
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IDA	19118189
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0051835	Process	Positive regulation of synapse structural plasticity	IMP	19118189
GO:0098794	Component	Postsynapse	IEA

MIM	HGNC	e!Ensembl
300838	29007	ENSG00000169933

Q14CM0

Protein name

FERM and PDZ domain-containing protein 4 (PDZ domain-containing protein 10) (PSD-95-interacting regulator of spine morphogenesis) (Preso)

Protein function

Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.

PDB

4WND , 4WNE , 4WNF , 4WNG , 7BYJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	78 → 152	PDZ domain	Domain
PF00373	FERM_M	294 → 424	FERM central domain	Domain

Sequence

MDVFSFVKIAKLSSHRTKSSGWPPPSGTWGLSQVPPYGWEMTANRDGRDYFINHMTQAIP
FDDPRLESCQIIPPAPRKVEMRRDPVLGFGFVAGSEKPVVVRSVTPGGPSEGKLIPGDQI
VMINDEPVSAAPRERVIDLVRSCKESILLTVIQPYPSPKSAFISAAKKARLKSNPVKVRF
SEEVIINGQVSETVKDNSLLFMPNVLKVYLENGQTKSFRFDCSTSIKDVILTLQEKLSIK
GIEHFSLMLEQRTEGAGTKLLLLHEQETLTQVTQRPSSHKMRCLFRISFVPKDPIDLLRR
DPVAFEYLYVQSCNDVVQERFGPELKYDIALRLAALQMYIATVTTKQTQKISLKYIEKEW
GLETFLPSAVLQSMKEKNIKKALSHLVKANQNLVPPGKKLSALQAKVHYLKFLSDLRLYG
GRVFKATLVQAEKRSEVTLLVGPRYGISHVINTKTNLVALLADFSHVNRIEMFSEEESLV
RVELHVLDVKPITLLMESSDAMNLACLTAGYYRLLVDSRRSIFNMANKKNTATQETGPEN
KGKHNLLGPDWNCIPQMTTFIGEGEQEAQITYIDSKQKTVEITDSTMCPKEHRHLYIDNA
YSSDGLNQQLSQPGEAPCEADYRSLAQRSLLTLSGPETLKKAQESPRGAKVSFIFGDFAL
DDGISPPTLGYETLLDEGPEMLEKQRNLYIGSANDMKGLDLTPEAEGIQFVENSVYANIG
DVKSFQAAEGIEEPLLHDICYAENTDDAEDEDEVSCEEDLVVGEMNQPAILNLSGSSDDI
IDLTSLPPPEGDDNEDDFLLRSLNMAIAAPPPGFRDSSDEEDSQSQAASFPEDKEKGSSL
QNDEIPVSLIDAVPTSAEGKCEKGLDNAVVSTLGALEALSVSEEQQTSDNSGVAILRAYS
PESSSDSGNETNSSEMTESSELATAQKQSENLSRMFLATHEGYHPLAEEQTEFPASKTPA
GGLPPKSSHALAARPATDLPPKVVPSKQLLHSDHMEMEPETMETKSVTDYFSKLHMGSVA
YSCTSKRKSKLADGEGKAPPNGNTTGKKQQGTKTAEMEEEASGKFGTVSSRDSQHLSTFN
LERTAFRKDSQRWYVATEGGMAEKSGLEAATGKTFPRASGLGAREAEGKEEGAPDGETSD
GSGLGQGDRFLTDVTCASSAKDLDNPEDADSSTCDHPSKLPEADESVARLCDYHLAKRMS
SLQSEGHFSLQSSQGSSVDAGCGTGSSGSACATPVESPLCPSLGKHLIPDASGKGVNYIP
SEERAPGLPNHGATFKELHPQTEGMCPRMTVPALHTAINTEPLFGTLRDGCHRLPKIKET
TV

Sequence length

1322

Interactions

View interactions

103

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability, X-linked 104	Likely pathogenic; Pathogenic	rs2147144421, rs2519751886, rs2519861850, rs886038208, rs886038209, rs2519859595, rs747574742, rs2519807297, rs2519857290, rs2041899970, rs1569057837, rs2041898606	RCV001775360 RCV002289082 RCV003153047 RCV000247605 RCV000252374 RCV003234808 RCV003329107 RCV003985238 RCV004555008 RCV004556919 RCV000735868 RCV001253352
Neurodevelopmental delay	Likely pathogenic	rs2147174292	RCV002274338
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2060108128	RCV005913651

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism, susceptibility to, X-linked 4	Conflicting classifications of pathogenicity; Likely benign	rs41303149, rs779013797	RCV000659681 RCV000659680
FRMPD4-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs1294169574, rs140428359, rs200183778, rs2059881267, rs1430635493, rs750004207, rs2519724179, rs771844799, rs146122430, rs780060901, rs775576730, rs747574742, rs765472737, rs372073451, rs2519858875 View all (15 more)	RCV003416224 RCV003941148 RCV003968574 RCV004750846 RCV003420789 RCV003421163 RCV003391568 RCV003429111 RCV003946620 RCV003923916 RCV003979373 RCV003899477 RCV003944113 RCV003931437 RCV003932070 RCV003946859 RCV003946882 RCV003954386 RCV003959411 RCV003902739 RCV003962381 RCV003902775 RCV003910504 RCV003950481 RCV003912927 RCV003958093 RCV003923213 RCV003923199 RCV003942965 RCV003405382
Intellectual disability	Likely benign	rs145583343	RCV001251760
Malignant tumor of urinary bladder	Benign	rs138335499	RCV005902918
Neurodevelopmental disorder	Uncertain significance	rs2519851399	RCV003389155
Nonpapillary renal cell carcinoma	Uncertain significance	rs2519510200	RCV005927665

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	38562040
ATR X syndrome	Associate	29267967
Brain Diseases	Associate	37330374
Developmental Disabilities	Associate	37330374
Epilepsy	Associate	37330374
Intellectual Disability	Associate	23871722, 29267967, 37330374, 38562040
Language Development Disorders	Associate	38562040
Language Disorders	Associate	38562040
Learning Disabilities	Associate	29267967
Mental Disorders	Associate	29267967
Mental Retardation Autosomal Recessive 7	Associate	38562040
Mental Retardation X Linked with Epilepsy	Associate	37330374
Seizures	Associate	29267967

FRMPD4 (FERM and PDZ domain containing 4)