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    EEIG1 estrogen-induced osteoclastogenesis regulator 1 [ Homo sapiens (human) ]

    Gene ID: 399665, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EEIG1provided by HGNC
    Official Full Name
    estrogen-induced osteoclastogenesis regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:31419
    See related
    Ensembl:ENSG00000167106 MIM:610891; AllianceGenome:HGNC:31419
    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
    SYM-3A; FAM102A; C9orf132; bA203J24.7
    Summary
    Predicted to be involved in positive regulation of osteoclast differentiation. Predicted to be located in cytoplasm; membrane raft; and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in stomach (RPKM 55.4), small intestine (RPKM 33.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EEIG1 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127940582..127980989, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140148362..140188761, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130702861..130743268, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:130685680-130686879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130688781-130689504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130689505-130690228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130690229-130690952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130691676-130692399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130693123-130693846 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130696662-130697162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130697163-130697663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29062 Neighboring gene uncharacterized LOC124902280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130704889-130705418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130708322-130708822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130708823-130709323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130717798-130718764 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 2, regulatory Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130723095-130723703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130723748-130724584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130724585-130725420 Neighboring gene Sharpr-MPRA regulatory region 6856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130730939-130731467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130735756-130736498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130736499-130737242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29063 Neighboring gene conserved acetylation island sequence 15 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130763335-130763870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130763871-130764404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29068 Neighboring gene Sharpr-MPRA regulatory region 5179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130817345-130818242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:130835790-130836290 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:130836291-130836791 Neighboring gene solute carrier family 25 member 25 Neighboring gene nuclear apoptosis inducing factor 1 Neighboring gene Sharpr-MPRA regulatory region 4771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130853709-130854229 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:130854230-130854750 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130859824-130860560 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130860561-130861298

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In this study, 2 of 8 (primary angle-closure glaucoma) PACG-associated loci were associated significantly with PACS status, the earliest stage in the angle-closure glaucoma disease course. The association of these PACG loci with PACS status suggests that these loci may confer susceptibility to a narrow angle configuration.
      Title: Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease.
    2. EEIG1 is a novel RANK signaling component controlling RANK-mediated osteoclast formation.
      Title: Early estrogen-induced gene 1, a novel RANK signaling component, is essential for osteoclastogenesis.
    3. A novel estrogen-responsive gene was identified and named EEIG1 for early estrogen-induced gene 1
      Title: Identification of estrogen-responsive genes by complementary deoxyribonucleic acid microarray and characterization of a novel early estrogen-induced gene: EEIG1.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC50853

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of osteoclast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    early estrogen-induced gene 1 protein
    Names
    family with sequence similarity 102 member A
    protein FAM102A
    sym-3 homolog A

    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_001035254.3 → NP_001030331.1  early estrogen-induced gene 1 protein isoform a

      See identical proteins and their annotated locations for NP_001030331.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK058004, AL157935, BC047949, BI008660, CN482844
      Consensus CDS
      CCDS35150.1
      UniProtKB/Swiss-Prot
      A2A329, Q5T9C2, Q8TEL4
      Related
      ENSP00000362187.1, ENST00000373095.6
      Conserved Domains (1) summary
      pfam10358
      Location:12 → 152
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins

    2. NM_203305.3 → NP_976050.1  early estrogen-induced gene 1 protein isoform b

      See identical proteins and their annotated locations for NP_976050.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AL157935, BC047949, BI008660
      Consensus CDS
      CCDS6888.1
      UniProtKB/Swiss-Prot
      Q5T9C2
      Related
      ENSP00000362176.4, ENST00000373084.8

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      127940582..127980989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140148362..140188761 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T9C2.2 GenPept UniProtKB/Swiss-Prot:Q5T9C2

    Gene LinkOut

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

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