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    PLXNA4 plexin A4 [ Homo sapiens (human) ]

    Gene ID: 91584, updated on 11-Apr-2024

    Summary

    Official Symbol
    PLXNA4provided by HGNC
    Official Full Name
    plexin A4provided by HGNC
    Primary source
    HGNC:HGNC:9102
    See related
    Ensembl:ENSG00000221866 MIM:604280; AllianceGenome:HGNC:9102
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PLEXA4; PLXNA4A; PLXNA4B; FAYV2820; PRO34003
    Summary
    Predicted to enable semaphorin receptor activity. Predicted to be involved in several processes, including axon guidance; positive regulation of axonogenesis; and regulation of GTPase activity. Predicted to act upstream of or within several processes, including nervous system development; regulation of axon extension involved in axon guidance; and regulation of negative chemotaxis. Predicted to be located in plasma membrane. Predicted to be part of semaphorin receptor complex. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in fat (RPKM 7.3), brain (RPKM 3.4) and 14 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    7q32.3
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (132123340..132648688, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (133444537..133970190, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (131808099..132333447, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18667 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:131749059-131749230 Neighboring gene zinc finger protein 384 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131798754-131799254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131819449-131819949 Neighboring gene MPRA-validated peak6730 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131840794-131841294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131864642-131865163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131875067-131875568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131875569-131876068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131886969-131887506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131935707-131936224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131936225-131936740 Neighboring gene uncharacterized LOC101928807 Neighboring gene OCT4 hESC enhancer GRCh37_chr7:131981706-131982207 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132036582-132037117 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132037118-132037652 Neighboring gene uncharacterized LOC105375511 Neighboring gene uncharacterized LOC102724906 Neighboring gene Sharpr-MPRA regulatory region 6221 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:132096070-132096270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:132110455-132111152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132259713-132260690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132260691-132261668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18668 Neighboring gene MPRA-validated peak6731 silencer Neighboring gene Putative uncharacterized protein FLJ40288 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:132425189-132426388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132435460-132436090 Neighboring gene small nucleolar RNA SNORD46

    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

    EBI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog
    Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    EBI GWAS Catalog
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog
    The molecular genetic architecture of self-employment.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35026, FLJ38287, KIAA1550, DKFZp434G0625, DKFZp566O0546

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables semaphorin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in anterior commissure morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branchiomotor neuron axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chemorepulsion of branchiomotor axon IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic heart tube development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in facial nerve structural organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glossopharyngeal nerve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of synapse structure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor neuron axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in postganglionic parasympathetic fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of axon extension involved in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of negative chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in semaphorin-plexin signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in semaphorin-plexin signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in sympathetic nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sympathetic neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in trigeminal nerve structural organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vagus nerve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cerebellar climbing fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of semaphorin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of semaphorin receptor complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    plexin-A4
    Names
    epididymis secretory sperm binding protein

    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.

    mRNA and Protein(s)

    1. NM_001105543.2NP_001099013.1  plexin-A4 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001099013.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has a different 3' terminal exon, and is missing many coding exons found in variant 1. It thus encodes a shorter isoform (3) with the same N-terminus, but a different C-terminus compared to isoform 1.
      Source sequence(s)
      AC011625, AK123428, DR003088
      Consensus CDS
      CCDS43647.1
      UniProtKB/TrEMBL
      A0A384NYW6
      Related
      ENSP00000392772.2, ENST00000423507.6
      Conserved Domains (1) summary
      cl15693
      Location:39458
      Sema; The Sema domain, a protein interacting module, of semaphorins and plexins
    2. NM_001393897.1NP_001380826.1  plexin-A4 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC009364, AC009785, AC018643
      Consensus CDS
      CCDS43646.1
      UniProtKB/Swiss-Prot
      A4D1N6, E9PAM2, Q6UWC6, Q6ZW89, Q8N969, Q8ND00, Q8NEN3, Q9HCM2, Q9NTD4
      Related
      ENSP00000352882.3, ENST00000359827.7
      Conserved Domains (10) summary
      cd11274
      Location:39511
      Sema_plexin_A4; The Sema domain, a protein interacting module, of Plexin A4
      smart00423
      Location:510548
      PSI; domain found in Plexins, Semaphorins and Integrins
      cd00603
      Location:11421222
      IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
      cd01179
      Location:9551038
      IPT_plexin_repeat2; Second repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01180
      Location:858953
      IPT_plexin_repeat1; First repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01181
      Location:10401140
      IPT_plexin_repeat3; Third repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      pfam01437
      Location:804856
      PSI; Plexin repeat
      pfam08337
      Location:13111864
      Plexin_cytopl; Plexin cytoplasmic RasGAP domain
      pfam17960
      Location:564654
      TIG_plexin; TIG domain
      pfam18020
      Location:708802
      TIG_2; TIG domain found in plexin
    3. NM_020911.2NP_065962.1  plexin-A4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_065962.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA253415, AB046770, AC018643, AK123428, CD243425, DR003088
      Consensus CDS
      CCDS43646.1
      UniProtKB/Swiss-Prot
      A4D1N6, E9PAM2, Q6UWC6, Q6ZW89, Q8N969, Q8ND00, Q8NEN3, Q9HCM2, Q9NTD4
      Related
      ENSP00000323194.4, ENST00000321063.9
      Conserved Domains (10) summary
      cd11274
      Location:39511
      Sema_plexin_A4; The Sema domain, a protein interacting module, of Plexin A4
      smart00423
      Location:510548
      PSI; domain found in Plexins, Semaphorins and Integrins
      cd00603
      Location:11421222
      IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
      cd01179
      Location:9551038
      IPT_plexin_repeat2; Second repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01180
      Location:858953
      IPT_plexin_repeat1; First repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01181
      Location:10401140
      IPT_plexin_repeat3; Third repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      pfam01437
      Location:804856
      PSI; Plexin repeat
      pfam08337
      Location:13111864
      Plexin_cytopl; Plexin cytoplasmic RasGAP domain
      pfam17960
      Location:564654
      TIG_plexin; TIG domain
      pfam18020
      Location:708802
      TIG_2; TIG domain found in plexin
    4. NM_181775.4NP_861440.2  plexin-A4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_861440.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has different 5' and 3' terminal exons, and is missing many coding exons found in variant 1. It thus encodes a shorter isoform (2) with the same N-terminus, but a different C-terminus compared to isoform 1.
      Source sequence(s)
      AL137352, BC028744
      Consensus CDS
      CCDS5826.1
      UniProtKB/TrEMBL
      A0A384NYW6
      Related
      ENSP00000367800.5, ENST00000378539.5
      Conserved Domains (1) summary
      cl15693
      Location:39469
      Sema; The Sema domain, a protein interacting module, of semaphorins and plexins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      132123340..132648688 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012779.1XP_016868268.1  plexin-A4 isoform X2

    2. XM_006716171.5XP_006716234.1  plexin-A4 isoform X1

      See identical proteins and their annotated locations for XP_006716234.1

      UniProtKB/Swiss-Prot
      A4D1N6, E9PAM2, Q6UWC6, Q6ZW89, Q8N969, Q8ND00, Q8NEN3, Q9HCM2, Q9NTD4
      Conserved Domains (10) summary
      cd11274
      Location:39511
      Sema_plexin_A4; The Sema domain, a protein interacting module, of Plexin A4
      smart00423
      Location:510548
      PSI; domain found in Plexins, Semaphorins and Integrins
      cd00603
      Location:11421222
      IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
      cd01179
      Location:9551038
      IPT_plexin_repeat2; Second repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01180
      Location:858953
      IPT_plexin_repeat1; First repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01181
      Location:10401140
      IPT_plexin_repeat3; Third repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      pfam01437
      Location:804856
      PSI; Plexin repeat
      pfam08337
      Location:13111864
      Plexin_cytopl; Plexin cytoplasmic RasGAP domain
      pfam17960
      Location:564654
      TIG_plexin; TIG domain
      pfam18020
      Location:708802
      TIG_2; TIG domain found in plexin
    3. XM_047421017.1XP_047276973.1  plexin-A4 isoform X1

      UniProtKB/Swiss-Prot
      A4D1N6, E9PAM2, Q6UWC6, Q6ZW89, Q8N969, Q8ND00, Q8NEN3, Q9HCM2, Q9NTD4
    4. XM_011516676.3XP_011514978.1  plexin-A4 isoform X3

      Conserved Domains (7) summary
      cd11274
      Location:39511
      Sema_plexin_A4; The Sema domain, a protein interacting module, of Plexin A4
      cd00603
      Location:11421222
      IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
      cd01179
      Location:9551038
      IPT_plexin_repeat2; Second repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01180
      Location:858953
      IPT_plexin_repeat1; First repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01181
      Location:10401140
      IPT_plexin_repeat3; Third repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      pfam01437
      Location:509555
      PSI; Plexin repeat
      cl02569
      Location:13111339
      RasGAP; Ras GTPase Activating Domain
    5. XM_047421018.1XP_047276974.1  plexin-A4 isoform X5

    6. XM_047421019.1XP_047276975.1  plexin-A4 isoform X4

    RNA

    1. XR_927546.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      133444537..133970190 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359310.1XP_054215285.1  plexin-A4 isoform X2

    2. XM_054359308.1XP_054215283.1  plexin-A4 isoform X1

      UniProtKB/Swiss-Prot
      A4D1N6, E9PAM2, Q6UWC6, Q6ZW89, Q8N969, Q8ND00, Q8NEN3, Q9HCM2, Q9NTD4
    3. XM_054359309.1XP_054215284.1  plexin-A4 isoform X1

      UniProtKB/Swiss-Prot
      A4D1N6, E9PAM2, Q6UWC6, Q6ZW89, Q8N969, Q8ND00, Q8NEN3, Q9HCM2, Q9NTD4
    4. XM_054359311.1XP_054215286.1  plexin-A4 isoform X3

    5. XM_054359312.1XP_054215287.1  plexin-A4 isoform X4

    RNA

    1. XR_008487773.1 RNA Sequence