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Protein

HORMA domain-containing protein 2

Gene

HORMAD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break-independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for normal sex body formation (By similarity).By similarity

GO - Biological processi

Keywordsi

Biological processMeiosis

Names & Taxonomyi

Protein namesi
Recommended name:
HORMA domain-containing protein 2
Gene namesi
Name:HORMAD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000176635.17
HGNCiHGNC:28383 HORMAD2
neXtProtiNX_Q8N7B1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi150280
OpenTargetsiENSG00000176635
PharmGKBiPA134889862

Polymorphism and mutation databases

BioMutaiHORMAD2
DMDMi145558934

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002846691 – 307HORMA domain-containing protein 2Add BLAST307

Post-translational modificationi

Phosphorylated in a SPO11-dependent manner.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N7B1
PeptideAtlasiQ8N7B1
PRIDEiQ8N7B1
ProteomicsDBi72278

PTM databases

iPTMnetiQ8N7B1
PhosphoSitePlusiQ8N7B1

Expressioni

Tissue specificityi

Highly expressed in testis (at protein level). Expressed in lung adenocarcinoma and squamous cell carcinoma (at protein level). Expressed at lower levels in the liver, brain and kidney.2 Publications

Gene expression databases

BgeeiENSG00000176635 Expressed in 39 organ(s), highest expression level in testis
CleanExiHS_HORMAD2
ExpressionAtlasiQ8N7B1 baseline and differential
GenevisibleiQ8N7B1 HS

Organism-specific databases

HPAiHPA003074

Interactioni

Subunit structurei

Interacts with HORMAD1.By similarity

Protein-protein interaction databases

IntActiQ8N7B1, 1 interactor
STRINGi9606.ENSP00000336984

Structurei

3D structure databases

ProteinModelPortaliQ8N7B1
SMRiQ8N7B1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini29 – 234HORMAPROSITE-ProRule annotationAdd BLAST206

Phylogenomic databases

eggNOGiKOG4652 Eukaryota
ENOG410XT4N LUCA
GeneTreeiENSGT00390000018130
HOGENOMiHOG000293366
HOVERGENiHBG074209
InParanoidiQ8N7B1
OMAiKRYLHMA
OrthoDBiEOG091G0F8O
PhylomeDBiQ8N7B1
TreeFamiTF313989

Family and domain databases

Gene3Di3.30.900.10, 1 hit
InterProiView protein in InterPro
IPR003511 HORMA_dom
IPR036570 HORMA_dom_sf
PfamiView protein in Pfam
PF02301 HORMA, 1 hit
SUPFAMiSSF56019 SSF56019, 1 hit
PROSITEiView protein in PROSITE
PS50815 HORMA, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q8N7B1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATAQLSHCI TIHKASKETV FPSQITNEHE SLKMVKKLFA TSISCITYLR
60 70 80 90 100
GLFPESSYGE RHLDDLSLKI LREDKKCPGS LHIIRWIQGC FDALEKRYLR
110 120 130 140 150
MAVLTLYTDP MGSEKVTEMY QFKFKYTKEG ATMDFDSHSS STSFESGTNN
160 170 180 190 200
EDIKKASVLL IRKLYILMQD LEPLPNNVVL TMKLHYYNAV TPHDYQPLGF
210 220 230 240 250
KEGVNSHFLL FDKEPINVQV GFVSTGFHSM KVKVMTEATK VIDLENNLFR
260 270 280 290 300
ENSTTEIAHQ GLDCDEEEEC NDHIQRMNFV CSQQSSECSR KKRKVSEPVK

VFIPNRK
Length:307
Mass (Da):35,284
Last modified:April 17, 2007 - v2
Checksum:iA190ABB99E374EB3
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WES9F8WES9_HUMAN
HORMA domain-containing protein 2
HORMAD2
91Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti217N → D in BAC05388 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0318022A → T. Corresponds to variant dbSNP:rs34150968Ensembl.1
Natural variantiVAR_03180320V → L. Corresponds to variant dbSNP:rs34305723Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456341 mRNA Translation: CAG30227.1
AK098703 mRNA Translation: BAC05388.1
AC002378 Genomic DNA No translation available.
AC003071 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW59860.1
BC030013 mRNA Translation: AAH30013.1
CCDSiCCDS46683.1
RefSeqiNP_001316386.1, NM_001329457.1
NP_001316387.1, NM_001329458.1
NP_689723.1, NM_152510.3
XP_011528219.1, XM_011529917.2
UniGeneiHs.120391

Genome annotation databases

EnsembliENST00000336726; ENSP00000336984; ENSG00000176635
ENST00000403975; ENSP00000385055; ENSG00000176635
GeneIDi150280
KEGGihsa:150280
UCSCiuc003agy.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456341 mRNA Translation: CAG30227.1
AK098703 mRNA Translation: BAC05388.1
AC002378 Genomic DNA No translation available.
AC003071 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW59860.1
BC030013 mRNA Translation: AAH30013.1
CCDSiCCDS46683.1
RefSeqiNP_001316386.1, NM_001329457.1
NP_001316387.1, NM_001329458.1
NP_689723.1, NM_152510.3
XP_011528219.1, XM_011529917.2
UniGeneiHs.120391

3D structure databases

ProteinModelPortaliQ8N7B1
SMRiQ8N7B1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8N7B1, 1 interactor
STRINGi9606.ENSP00000336984

PTM databases

iPTMnetiQ8N7B1
PhosphoSitePlusiQ8N7B1

Polymorphism and mutation databases

BioMutaiHORMAD2
DMDMi145558934

Proteomic databases

PaxDbiQ8N7B1
PeptideAtlasiQ8N7B1
PRIDEiQ8N7B1
ProteomicsDBi72278

Protocols and materials databases

DNASUi150280
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336726; ENSP00000336984; ENSG00000176635
ENST00000403975; ENSP00000385055; ENSG00000176635
GeneIDi150280
KEGGihsa:150280
UCSCiuc003agy.4 human

Organism-specific databases

CTDi150280
DisGeNETi150280
EuPathDBiHostDB:ENSG00000176635.17
GeneCardsiHORMAD2
HGNCiHGNC:28383 HORMAD2
HPAiHPA003074
neXtProtiNX_Q8N7B1
OpenTargetsiENSG00000176635
PharmGKBiPA134889862
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4652 Eukaryota
ENOG410XT4N LUCA
GeneTreeiENSGT00390000018130
HOGENOMiHOG000293366
HOVERGENiHBG074209
InParanoidiQ8N7B1
OMAiKRYLHMA
OrthoDBiEOG091G0F8O
PhylomeDBiQ8N7B1
TreeFamiTF313989

Miscellaneous databases

GeneWikiiHORMAD2
GenomeRNAii150280
PROiPR:Q8N7B1

Gene expression databases

BgeeiENSG00000176635 Expressed in 39 organ(s), highest expression level in testis
CleanExiHS_HORMAD2
ExpressionAtlasiQ8N7B1 baseline and differential
GenevisibleiQ8N7B1 HS

Family and domain databases

Gene3Di3.30.900.10, 1 hit
InterProiView protein in InterPro
IPR003511 HORMA_dom
IPR036570 HORMA_dom_sf
PfamiView protein in Pfam
PF02301 HORMA, 1 hit
SUPFAMiSSF56019 SSF56019, 1 hit
PROSITEiView protein in PROSITE
PS50815 HORMA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHORM2_HUMAN
AccessioniPrimary (citable) accession number: Q8N7B1
Secondary accession number(s): B5MEB2, Q8NHR2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: September 12, 2018
This is version 102 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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