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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
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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

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)

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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