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FRMD4B FERM domain containing 4B [ Homo sapiens (human) ]

Gene ID: 23150, updated on 12-Oct-2019

Summary

Official Symbol
FRMD4Bprovided by HGNC
Official Full Name
FERM domain containing 4Bprovided by HGNC
Primary source
HGNC:HGNC:24886
See related
Ensembl:ENSG00000114541 MIM:617467
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
GRSP1; 6030440G05Rik
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]
Expression
Ubiquitous expression in spleen (RPKM 7.8), esophagus (RPKM 7.0) and 25 other tissues See more
Orthologs

Genomic context

See FRMD4B in Genome Data Viewer
Location:
3p14.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (69168782..69541340, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69219146..69435430, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 5 Neighboring gene leiomodin 3 Neighboring gene RNA binding motif protein 43 pseudogene 1 Neighboring gene H1.8 linker histone pseudogene Neighboring gene NFE2L2 motif-containing MPRA enhancer 231 Neighboring gene MITF-A promoter region Neighboring gene melanocyte inducing transcription factor

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
NHGRI GWA Catalog
Multiple common variants for celiac disease influencing immune gene expression.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1013

Gene Ontology Provided by GOA

Process Evidence Code Pubs
establishment of epithelial cell polarity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
extracellular space HDA PubMed 
ruffle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
FERM domain-containing protein 4B
Names
GRP1-binding protein GRSP1

NCBI Reference Sequences (RefSeq)

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_034059.1 RefSeqGene

    Range
    5001..222523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015123.3NP_055938.2  FERM domain-containing protein 4B

    Status: REVIEWED

    Source sequence(s)
    AC112221, AC135851
    Consensus CDS
    CCDS46863.1
    Related
    ENSP00000381549.3, ENST00000398540.8
    Conserved Domains (3) summary
    smart00295
    Location:75260
    B41; Band 4.1 homologues
    cd13191
    Location:256366
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam11819
    Location:395528
    DUF3338; Domain of unknown function (DUF3338)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    69168782..69541340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005991.1XP_016861480.1  FERM domain-containing protein 4B isoform X3

  2. XM_017005993.1XP_016861482.1  FERM domain-containing protein 4B isoform X5

    UniProtKB/Swiss-Prot
    Q9Y2L6
    Conserved Domains (5) summary
    smart00295
    Location:21206
    B41; Band 4.1 homologues
    cd13191
    Location:202312
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:92206
    FERM_M; FERM central domain
    pfam09379
    Location:2170
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:347475
    DUF3338; Domain of unknown function (DUF3338)
  3. XM_017005989.1XP_016861478.1  FERM domain-containing protein 4B isoform X1

  4. XM_005264722.1XP_005264779.1  FERM domain-containing protein 4B isoform X4

    Conserved Domains (5) summary
    smart00295
    Location:30215
    B41; Band 4.1 homologues
    cd13191
    Location:211321
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:101215
    FERM_M; FERM central domain
    pfam09379
    Location:3079
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:356484
    DUF3338; Domain of unknown function (DUF3338)
  5. XM_017005990.1XP_016861479.1  FERM domain-containing protein 4B isoform X2

  6. XM_017005994.1XP_016861483.1  FERM domain-containing protein 4B isoform X5

    UniProtKB/Swiss-Prot
    Q9Y2L6
    Conserved Domains (5) summary
    smart00295
    Location:21206
    B41; Band 4.1 homologues
    cd13191
    Location:202312
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:92206
    FERM_M; FERM central domain
    pfam09379
    Location:2170
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:347475
    DUF3338; Domain of unknown function (DUF3338)
  7. XM_017005992.1XP_016861481.1  FERM domain-containing protein 4B isoform X3

  8. XM_017005995.1XP_016861484.1  FERM domain-containing protein 4B isoform X6

  9. XM_017005996.1XP_016861485.1  FERM domain-containing protein 4B isoform X7

  10. XM_005264723.1XP_005264780.1  FERM domain-containing protein 4B isoform X9

    UniProtKB/TrEMBL
    E9PGA7
    Related
    ENSP00000418682.1, ENST00000478263.5
    Conserved Domains (2) summary
    pfam11819
    Location:53181
    DUF3338; Domain of unknown function (DUF3338)
    cl17171
    Location:118
    PH-like; Pleckstrin homology-like domain
  11. XM_017005997.1XP_016861486.1  FERM domain-containing protein 4B isoform X8

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