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    GCSAM germinal center associated signaling and motility [ Homo sapiens (human) ]

    Gene ID: 257144, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GCSAMprovided by HGNC
    Official Full Name
    germinal center associated signaling and motilityprovided by HGNC
    Primary source
    HGNC:HGNC:20253
    See related
    Ensembl:ENSG00000174500 MIM:607792; AllianceGenome:HGNC:20253
    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
    HGAL; GCAT2; GCET2
    Summary
    This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in lymph node (RPKM 14.9), skin (RPKM 5.8) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GCSAM in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (112120839..112133248, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (114841954..114854363, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (111839686..111852095, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene transmembrane serine protease 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:111804898-111805414 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:111820488-111821687 Neighboring gene chromosome 3 open reading frame 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20235 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:111845355-111845988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20237 Neighboring gene microRNA 567 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:111855415-111855934 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:111855935-111856453 Neighboring gene TGF-beta induced lncRNA Neighboring gene solute carrier family 9 member C1 Neighboring gene uncharacterized LOC124909407 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:111904045-111904638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:111904639-111905231 Neighboring gene INAVA pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Expression of HGAL in primary cutaneous large B-cell lymphomas: evidence for germinal center derivation of primary cutaneous follicular lymphoma. Xie X, et al. Mod Pathol, 2008 Jun. PMID 18264083
    2. HGAL protein expression persists in disorders of germinal center dissolution: potential role of HGAL in the germinal center microenvironment. Temmins C, et al. Appl Immunohistochem Mol Morphol, 2011 May. PMID 21475040
    3. Germinal center-specific protein human germinal center associated lymphoma directly interacts with both myosin and actin and increases the binding of myosin to actin. Lu X, et al. FEBS J, 2011 Jun. PMID 21447067, Free PMC Article
    4. The contribution of HGAL/GCET2 in immunohistological algorithms: a comparative study in 424 cases of nodal diffuse large B-cell lymphoma. Gualco G, et al. Mod Pathol, 2012 Nov. PMID 22743653
    5. Human germinal center-associated lymphoma protein expression is associated with improved failure-free survival in Brazilian patients with classical Hodgkin lymphoma. Azambuja D, et al. Leuk Lymphoma, 2009 Nov. PMID 19883310, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell Lymphoma.
      Title: Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell Lymphoma.
    2. HGAL inhibits lymphoma dissemination by interacting with multiple cytoskeletal proteins.
      Title: HGAL inhibits lymphoma dissemination by interacting with multiple cytoskeletal proteins.
    3. Conditional expression of HGAL leads to the development of diffuse large B-cell lymphoma in mice.
      Title: Conditional expression of HGAL leads to the development of diffuse large B-cell lymphoma in mice.
    4. Recent BCR stimulation induces a negative autoregulatory loop via FBXO10 mediated degradation of HGAL.
      Title: Recent BCR stimulation induces a negative autoregulatory loop via FBXO10 mediated degradation of HGAL.
    5. we have demonstrated that Grb2 directly interacts with phosphorylated HGAL, collaborating in cSMAC formation while oppositely regulating BCR-induced intracellular biochemical signaling. These interactions may play an important function in regulating the magnitude of BCR signaling and antigen presentation.
      Title: Interplay between HGAL and Grb2 proteins regulates B-cell receptor signaling.
    6. Diagnostic Utility of the Germinal Center-associated Markers GCET1, HGAL, and LMO2 in Hematolymphoid Neoplasms.
      Title: Diagnostic Utility of the Germinal Center-associated Markers GCET1, HGAL, and LMO2 in Hematolymphoid Neoplasms.
    7. These findings further elucidate the growing and complex role of HGAL in B-cell biology and suggest that membrane-bound and cytoplasmic HGAL protein differently regulates distinct biological processes.
      Title: HGAL localization to cell membrane regulates B-cell receptor signaling.
    8. HGAL and LMO2 may be useful adjuncts in the identification of follicular lymphoma of the nongastric gastrointestinal tract.
      Title: Usefulness of HGAL and LMO2 immunohistochemistry in the identification of follicular lymphomas of the non-gastric gastrointestinal tract.
    9. the germinal centre protein human germinal centre-associated lymphoma regulates B-cell receptor signalling in B-lymphocytes which, without appropriate control, may lead to B-cell lymphoproliferation.
      Title: Germinal centre protein HGAL promotes lymphoid hyperplasia and amyloidosis via BCR-mediated Syk activation.
    10. HGAL/GCET2 protein expression may function as a marker for germinal center B-cell type diffuse large B-cell lymphoma.
      Title: The contribution of HGAL/GCET2 in immunohistological algorithms: a comparative study in 424 cases of nodal diffuse large B-cell lymphoma.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC40441

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables myosin II binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of lymphocyte migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of lymphocyte migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of B cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of B cell receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    germinal center-associated signaling and motility protein
    Names
    germinal center B-cell-expressed transcript 2 protein
    germinal center expressed transcript 2
    germinal center-associated lymphoma protein
    human germinal center-associated lymphoma

    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_001190259.2 → NP_001177188.1  germinal center-associated signaling and motility protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a longer protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC128688, AY212246, BM456595
      Consensus CDS
      CCDS54622.1
      UniProtKB/TrEMBL
      B2R8H0
      Related
      ENSP00000419485.1, ENST00000484193.5
      Conserved Domains (1) summary
      pfam15666
      Location:73 → 155
      HGAL; Germinal center-associated lymphoma

    2. NM_001190260.2 → NP_001177189.1  germinal center-associated signaling and motility protein isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AC128688, AY212246, BP224611
      Consensus CDS
      CCDS54621.1
      UniProtKB/TrEMBL
      B2R8H0
      Related
      ENSP00000420603.2, ENST00000460387.6
      Conserved Domains (1) summary
      pfam15666
      Location:56 → 138
      HGAL; Germinal center-associated lymphoma

    3. NM_152785.5 → NP_689998.1  germinal center-associated signaling and motility protein isoform 1

      See identical proteins and their annotated locations for NP_689998.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC128688, AF521911, AY212246
      Consensus CDS
      CCDS2964.1
      UniProtKB/Swiss-Prot
      C9JD17, C9JUG6, Q8N6F7
      UniProtKB/TrEMBL
      B2R8H0
      Related
      ENSP00000309487.4, ENST00000308910.9
      Conserved Domains (1) summary
      pfam15666
      Location:71 → 153
      HGAL; Germinal center-associated lymphoma

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      112120839..112133248 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453437.2 → XP_024309205.1  germinal center-associated signaling and motility protein isoform X2

      UniProtKB/TrEMBL
      B2R8H0
      Conserved Domains (1) summary
      pfam15666
      Location:74 → 154
      HGAL; Germinal center-associated lymphoma

    2. XM_011512627.4 → XP_011510929.1  germinal center-associated signaling and motility protein isoform X1

      UniProtKB/TrEMBL
      B2R8H0
      Conserved Domains (1) summary
      pfam15666
      Location:76 → 156
      HGAL; Germinal center-associated lymphoma

    3. XM_024453438.2 → XP_024309206.1  germinal center-associated signaling and motility protein isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y525, A0A2R8Y6D6, C9IY73, C9JY41
      Conserved Domains (1) summary
      pfam15666
      Location:69 → 149
      HGAL; Germinal center-associated lymphoma

    4. XM_011512629.3 → XP_011510931.1  germinal center-associated signaling and motility protein isoform X4

      See identical proteins and their annotated locations for XP_011510931.1

      UniProtKB/TrEMBL
      A0A2R8Y525, A0A2R8Y6D6, C9IY73, C9JY41
      Related
      ENSP00000418849.2, ENST00000487901.2
      Conserved Domains (1) summary
      pfam15666
      Location:57 → 137
      HGAL; Germinal center-associated lymphoma

    5. XM_011512630.3 → XP_011510932.1  germinal center-associated signaling and motility protein isoform X4

      See identical proteins and their annotated locations for XP_011510932.1

      UniProtKB/TrEMBL
      A0A2R8Y525, A0A2R8Y6D6, C9IY73, C9JY41
      Related
      ENSP00000419913.2, ENST00000488580.6
      Conserved Domains (1) summary
      pfam15666
      Location:57 → 137
      HGAL; Germinal center-associated lymphoma

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805492.1 Reference GRCh38.p14 PATCHES

      Range
      4129..16538 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332387.1 → XP_054188362.1  germinal center-associated signaling and motility protein isoform X2

    2. XM_054332386.1 → XP_054188361.1  germinal center-associated signaling and motility protein isoform X1

    3. XM_054332388.1 → XP_054188363.1  germinal center-associated signaling and motility protein isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      114841954..114854363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346011.1 → XP_054201986.1  germinal center-associated signaling and motility protein isoform X2

    2. XM_054346010.1 → XP_054201985.1  germinal center-associated signaling and motility protein isoform X1

    3. XM_054346012.1 → XP_054201987.1  germinal center-associated signaling and motility protein isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008756.1: Suppressed sequence

      Description
      NM_001008756.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6F7.1 GenPept UniProtKB/Swiss-Prot:Q8N6F7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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