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FRMD3 FERM domain containing 3 [ Homo sapiens (human) ]

Gene ID: 257019, updated on 8-Jul-2018
Official Symbol
FRMD3provided by HGNC
Official Full Name
FERM domain containing 3provided by HGNC
Primary source
HGNC:HGNC:24125
See related
Ensembl:ENSG00000172159 MIM:607619; Vega:OTTHUMG00000020103
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
4.1O; P410; EPB41LO; EPB41L4O
Summary
The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Expression
Broad expression in heart (RPKM 8.0), kidney (RPKM 5.0) and 20 other tissues See more
Orthologs
See FRMD3 in Genome Data Viewer
Location:
9q21.32
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (83242990..83585797, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (85857905..86153348, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268037 Neighboring gene uncharacterized LOC102723989 Neighboring gene RNA, 7SK small nuclear pseudogene 242 Neighboring gene RNA, U4 small nuclear 29, pseudogene Neighboring gene RNA, U4 small nuclear 15, pseudogene Neighboring gene IDNK, gluconokinase

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC20553

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
FERM domain-containing protein 3
Names
band 4.1-like protein 4
band 4.1-like protein 4O
ovary type protein 4.1
protein 4.1O

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.

mRNA and Protein(s)

  1. NM_001244959.1NP_001231888.1  FERM domain-containing protein 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of an exon and has an alternate 3' terminal exon compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK094281, AK223597, BC023560, BC041376
    Consensus CDS
    CCDS59133.1
    UniProtKB/Swiss-Prot
    A2A2Y4
    Related
    ENSP00000365621.1, OTTHUMP00000021540, ENST00000376438.5, OTTHUMT00000052829
    Conserved Domains (5) summary
    smart00295
    Location:33225
    B41; Band 4.1 homologues
    pfam00373
    Location:117225
    FERM_M; FERM central domain
    pfam08736
    Location:323357
    FA; FERM adjacent (FA)
    pfam09379
    Location:3698
    FERM_N; FERM N-terminal domain
    cl17171
    Location:206309
    PH-like; Pleckstrin homology-like domain
  2. NM_001244960.1NP_001231889.1  FERM domain-containing protein 3 isoform 3

    See identical proteins and their annotated locations for NP_001231889.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks the first exon compared to variant 1 and has an alternate, downstream first exon instead. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK223597, AL137847, AY137774, BM873990
    Consensus CDS
    CCDS75852.1
    UniProtKB/Swiss-Prot
    A2A2Y4
    Related
    ENSP00000484839.1, ENST00000621208.4
    Conserved Domains (5) summary
    smart00295
    Location:7181
    B41; Band 4.1 homologues
    pfam00373
    Location:73181
    FERM_M; FERM central domain
    pfam08736
    Location:279313
    FA; FERM adjacent (FA)
    pfam09379
    Location:754
    FERM_N; FERM N-terminal domain
    cl17171
    Location:162265
    PH-like; Pleckstrin homology-like domain
  3. NM_001244961.1NP_001231890.1  FERM domain-containing protein 3 isoform 4

    See identical proteins and their annotated locations for NP_001231890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks the first exon compared to variant 1 and has an alternate, downstream first exon instead. It also uses an alternate splice junction at the 3' end of an exon and has an alternate 3' terminal exon compared to variant 1. The resulting isoform (4) has shorter and distinct N and C-terminus compared to isoform 1.
    Source sequence(s)
    BC023560, BC037253
    Consensus CDS
    CCDS59132.1
    UniProtKB/Swiss-Prot
    A2A2Y4
    Related
    ENSP00000365617.1, OTTHUMP00000021541, ENST00000376434.5, OTTHUMT00000052830
    Conserved Domains (2) summary
    pfam08736
    Location:129163
    FA; FERM adjacent (FA)
    cl17171
    Location:12115
    PH-like; Pleckstrin homology-like domain
  4. NM_001244962.1NP_001231891.1  FERM domain-containing protein 3 isoform 5

    See identical proteins and their annotated locations for NP_001231891.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks the first exon compared to variant 1 and has an alternate, downstream first exon instead. It also uses an alternate splice junction at the 3' end of an exon and has an alternate 3' terminal exon compared to variant 1. The resulting isoform (5) has shorter and distinct N and C-terminus compared to isoform 1.
    Source sequence(s)
    BC023560
    Consensus CDS
    CCDS59131.1
    UniProtKB/Swiss-Prot
    A2A2Y4
    Related
    ENSP00000328615.1, OTTHUMP00000021542, ENST00000328788.5, OTTHUMT00000052831
  5. NM_174938.5NP_777598.3  FERM domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_777598.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK223597, AL137847, BC041376, BM873990
    Consensus CDS
    CCDS43840.1
    UniProtKB/Swiss-Prot
    A2A2Y4
    Related
    ENSP00000303508.3, OTTHUMP00000082756, ENST00000304195.7, OTTHUMT00000157355
    Conserved Domains (5) summary
    smart00295
    Location:33225
    B41; Band 4.1 homologues
    pfam00373
    Location:117225
    FERM_M; FERM central domain
    pfam08736
    Location:323357
    FA; FERM adjacent (FA)
    pfam09379
    Location:3698
    FERM_N; FERM N-terminal domain
    cl17171
    Location:206309
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    83242990..83585797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447487.1XP_024303255.1  FERM domain-containing protein 3 isoform X2

    Conserved Domains (3) summary
    smart00295
    Location:2129
    B41; Band 4.1 homologues
    pfam08736
    Location:227261
    FA; FERM adjacent (FA)
    cl17171
    Location:110213
    PH-like; Pleckstrin homology-like domain
  2. XM_024447489.1XP_024303257.1  FERM domain-containing protein 3 isoform X2

    Conserved Domains (3) summary
    smart00295
    Location:2129
    B41; Band 4.1 homologues
    pfam08736
    Location:227261
    FA; FERM adjacent (FA)
    cl17171
    Location:110213
    PH-like; Pleckstrin homology-like domain
  3. XM_017014588.1XP_016870077.1  FERM domain-containing protein 3 isoform X1

  4. XM_024447488.1XP_024303256.1  FERM domain-containing protein 3 isoform X2

    Conserved Domains (3) summary
    smart00295
    Location:2129
    B41; Band 4.1 homologues
    pfam08736
    Location:227261
    FA; FERM adjacent (FA)
    cl17171
    Location:110213
    PH-like; Pleckstrin homology-like domain
  5. XM_017014589.1XP_016870078.1  FERM domain-containing protein 3 isoform X3

  6. XM_017014591.2XP_016870080.1  FERM domain-containing protein 3 isoform X4

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