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

Gene ID: 399665, updated on 21-Mar-2023

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
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_2023_03 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127940582..127980989, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140148362..140188761, complement)
105.20220307 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 phosphatidylinositol-4-phosphate 5-kinase like 1 Neighboring gene uncharacterized LOC124902280 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 2, regulatory Neighboring gene Sharpr-MPRA regulatory region 6856 Neighboring gene conserved acetylation island sequence 15 enhancer Neighboring gene Sharpr-MPRA regulatory region 5179 Neighboring gene nuclear apoptosis inducing factor 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. 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. 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
  3. 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
  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 (15) 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. 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 

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
    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_2023_03

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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