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

Summary

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: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (127940582..127980989, complement)
RS_2023_10	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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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

SGC32949 (e-PCR)
- UniSTS:30219

SHGC-148931 (e-PCR)
- UniSTS:173077

RH66401 (e-PCR)
- UniSTS:59995

RH15886 (e-PCR)
- UniSTS:69982

D9S1062E (e-PCR)
- UniSTS:151279

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)

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
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