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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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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

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