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

Gene ID: 399665, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in stomach (RPKM 55.4), small intestine (RPKM 33.1) and 25 other tissues See more
Orthologs
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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 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. Identification of estrogen-responsive genes by complementary deoxyribonucleic acid microarray and characterization of a novel early estrogen-induced gene: EEIG1. Wang DY, et al. Mol Endocrinol, 2004 Feb. PMID 14605097
  2. Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease. Nongpiur ME, et al. Ophthalmology, 2018 May. PMID 29310965
  3. Early estrogen-induced gene 1, a novel RANK signaling component, is essential for osteoclastogenesis. Choi HK, et al. Cell Res, 2013 Apr. PMID 23478294, Free PMC Article
  4. The SRC-family tyrosine kinase HCK shapes the landscape of SKAP2 interactome. Bureau JF, et al. Oncotarget, 2018 Mar 2. PMID 29568343, Free PMC Article
  5. Probing nuclear pore complex architecture with proximity-dependent biotinylation. Kim DI, et al. Proc Natl Acad Sci U S A, 2014 Jun 17. PMID 24927568, Free PMC Article

See all (17) citations in PubMed

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)

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

  • 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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