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HORMAD2 HORMA domain containing 2 [ Homo sapiens (human) ]

Gene ID: 150280, updated on 11-Oct-2020

Summary

Official Symbol
HORMAD2provided by HGNC
Official Full Name
HORMA domain containing 2provided by HGNC
Primary source
HGNC:HGNC:28383
See related
Ensembl:ENSG00000176635 MIM:618842
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
CT46.2
Expression
Restricted expression toward testis (RPKM 6.8) See more
Orthologs

Genomic context

See HORMAD2 in Genome Data Viewer
Location:
22q12.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (30080069..30207425)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30476453..30573064)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene myotubularin related protein 3 Neighboring gene HORMAD2 and MTMR3 antisense RNA 1 Neighboring gene microRNA 6818 Neighboring gene calponin 2 pseudogene 1 Neighboring gene ribosomal protein L36 pseudogene 17 Neighboring gene RPS3A pseudogene 51 Neighboring gene uncharacterized LOC105372988 Neighboring gene Sharpr-MPRA regulatory region 10236 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1257

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants at five new loci associated with early-onset inflammatory bowel disease.
GeneReviews: Not available
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that HORMAD2 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with HORMAD2 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26710

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
meiotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
meiotic sister chromatid cohesion ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
chromosome ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptonemal complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
HORMA domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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_001329457.2NP_001316386.1  HORMA domain-containing protein 2 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    BC030013, BI829841, HY002382
    Consensus CDS
    CCDS46683.1
    UniProtKB/Swiss-Prot
    Q8N7B1
    Conserved Domains (1) summary
    pfam02301
    Location:31228
    HORMA; HORMA domain
  2. NM_001329458.2NP_001316387.1  HORMA domain-containing protein 2 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate exon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    BC030013, BI459310, BI829841
    UniProtKB/Swiss-Prot
    Q8N7B1
  3. NM_152510.4NP_689723.1  HORMA domain-containing protein 2 isoform a

    See identical proteins and their annotated locations for NP_689723.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    BC030013, BI829841
    Consensus CDS
    CCDS46683.1
    UniProtKB/Swiss-Prot
    Q8N7B1
    Related
    ENSP00000336984.6, ENST00000336726.11
    Conserved Domains (1) summary
    pfam02301
    Location:31228
    HORMA; HORMA domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    30080069..30207425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529914.2XP_011528216.1  HORMA domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011528216.1

    Conserved Domains (1) summary
    pfam02301
    Location:28228
    HORMA; HORMA domain
  2. XM_017028624.1XP_016884113.1  HORMA domain-containing protein 2 isoform X4

    Conserved Domains (1) summary
    pfam02301
    Location:11140
    HORMA; HORMA domain
  3. XM_011529918.1XP_011528220.1  HORMA domain-containing protein 2 isoform X3

    Conserved Domains (1) summary
    pfam02301
    Location:28228
    HORMA; HORMA domain
  4. XM_017028622.1XP_016884111.1  HORMA domain-containing protein 2 isoform X1

    Conserved Domains (1) summary
    pfam02301
    Location:28228
    HORMA; HORMA domain
  5. XM_017028621.1XP_016884110.1  HORMA domain-containing protein 2 isoform X1

    Conserved Domains (1) summary
    pfam02301
    Location:28228
    HORMA; HORMA domain
  6. XM_011529917.3XP_011528219.1  HORMA domain-containing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011528219.1

    UniProtKB/Swiss-Prot
    Q8N7B1
    Related
    ENSP00000385055.1, ENST00000403975.1
    Conserved Domains (1) summary
    pfam02301
    Location:31228
    HORMA; HORMA domain
  7. XM_017028625.1XP_016884114.1  HORMA domain-containing protein 2 isoform X5

  8. XM_017028626.1XP_016884115.1  HORMA domain-containing protein 2 isoform X6

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