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

Gene ID: 257144, updated on 21-Mar-2023

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_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (112120839..112133248, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (114841954..114854363, complement)
105.20220307 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 chromosome 3 open reading frame 52 Neighboring gene microRNA 567 Neighboring gene TGF-beta induced lncRNA Neighboring gene solute carrier family 9 member C1 Neighboring gene uncharacterized LOC124909407 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
  • 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. HGAL inhibits lymphoma dissemination by interacting with multiple cytoskeletal proteins. Jiang X, et al. Blood Adv, 2021 Dec 14. PMID 34543391, Free PMC Article
  2. HGAL localization to cell membrane regulates B-cell receptor signaling. Lu X, et al. Blood, 2015 Jan 22. PMID 25381061, Free PMC Article
  3. 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
  4. 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
  5. 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

See all (34) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HGAL inhibits lymphoma dissemination by interacting with multiple cytoskeletal proteins.
    Title: HGAL inhibits lymphoma dissemination by interacting with multiple cytoskeletal proteins.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Immunostaining for HGAL was more frequently positive than that for BCL6 and CD10 in follicular lymphomas
    Title: Comparison of germinal center markers CD10, BCL6 and human germinal center-associated lymphoma (HGAL) in follicular lymphomas.
Submit: New GeneRIF Correction See all GeneRIFs (23)

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
 PubMed 
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
 PubMed 
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/Swiss-Prot
    Q8N6F7
    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/Swiss-Prot
    Q8N6F7
    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
    C9JUG6, Q8N6F7
    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_2023_03

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

    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

    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

    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

    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

    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

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