Format

Send to:

Choose Destination

FRMPD4 FERM and PDZ domain containing 4 [ Homo sapiens (human) ]

Gene ID: 9758, updated on 22-Aug-2021

Summary

Official Symbol
FRMPD4provided by HGNC
Official Full Name
FERM and PDZ domain containing 4provided by HGNC
Primary source
HGNC:HGNC:29007
See related
Ensembl:ENSG00000169933 MIM:300838
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRX104; PDZD10; PDZK10; XLID104
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 excitatory synaptic transmission. [provided by RefSeq, Jan 2010]
Expression
Biased expression in brain (RPKM 3.1) and heart (RPKM 0.2) See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FRMPD4 in Genome Data Viewer
Location:
Xp22.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (11822439..12724523)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (11840558..12742642)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373131 Neighboring gene Sharpr-MPRA regulatory region 2065 Neighboring gene MSL complex subunit 3 Neighboring gene FRMPD4 antisense RNA 1 Neighboring gene ribosomal protein L17 pseudogene 49 Neighboring gene RN7SK pseudogene 290 Neighboring gene proteasome subunit alpha 6 pseudogene 2 Neighboring gene phosphoribosyl pyrophosphate synthetase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0316, MGC142260, MGC142262

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in positive regulation of synapse structural plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendritic spine IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016419.3 RefSeqGene

    Range
    321006..907063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001368395.3NP_001355324.1  FERM and PDZ domain-containing protein 4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest isoform (a).
    Source sequence(s)
    AC004554, AC073613, AC112499, AC112655, AC119619
    Related
    ENSP00000499481.1, ENST00000656302.1
  2. NM_001368396.3NP_001355325.1  FERM and PDZ domain-containing protein 4 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC002981, AC112499, AC112655, AC119619
  3. NM_001368397.1NP_001355326.1  FERM and PDZ domain-containing protein 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC002981, AC112499, AC112655, AC119619
    Related
    ENSP00000502607.1, ENST00000675598.1
  4. NM_001368398.3NP_001355327.1  FERM and PDZ domain-containing protein 4 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC004554, AC073613, AC112499, AC112655, AC119619
    Related
    ENSP00000492353.2, ENST00000640291.2
  5. NM_001368399.3NP_001355328.1  FERM and PDZ domain-containing protein 4 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC002981, AC112499, AC112655, AC119619
    Related
    ENSP00000499962.1, ENST00000672010.1
  6. NM_001368400.3NP_001355329.1  FERM and PDZ domain-containing protein 4 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC073524, AC112499, AC112655, AC119619
    Related
    ENSP00000500566.1, ENST00000672869.1
  7. NM_001368401.1NP_001355330.1  FERM and PDZ domain-containing protein 4 isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 9, encodes isoform h.
    Source sequence(s)
    AC002981, AC112499, AC112655, AC112657, AC119619
  8. NM_001368402.3NP_001355331.1  FERM and PDZ domain-containing protein 4 isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variant 8, encodes isoform h.
    Source sequence(s)
    AC073524, AC112499, AC112655, AC112657, AC119619
    Related
    ENST00000673271.1
  9. NM_014728.3NP_055543.2  FERM and PDZ domain-containing protein 4 isoform e

    See identical proteins and their annotated locations for NP_055543.2

    Status: REVIEWED

    Source sequence(s)
    AB002314, AC112655, AK289694, BX089361
    Consensus CDS
    CCDS35201.1
    UniProtKB/Swiss-Prot
    Q14CM0
    Related
    ENSP00000370057.1, ENST00000380682.5
    Conserved Domains (4) summary
    smart00295
    Location:205424
    B41; Band 4.1 homologues
    cd00201
    Location:3666
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd00992
    Location:76152
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd13183
    Location:420524
    FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    11822439..12724523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029983.1XP_016885472.1  FERM and PDZ domain-containing protein 4 isoform X3

  2. XM_017029984.1XP_016885473.1  FERM and PDZ domain-containing protein 4 isoform X4

  3. XM_005274632.3XP_005274689.2  FERM and PDZ domain-containing protein 4 isoform X1

  4. XM_017029985.1XP_016885474.1  FERM and PDZ domain-containing protein 4 isoform X5

Support Center