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Protein

HORMA domain-containing protein 2

Gene

HORMAD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Meiosis

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

HGNCiHGNC:28383. HORMAD2.

Subcellular locationi

  • Nucleus 1 Publication
  • Chromosome By similarity

  • Note: Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the male and female prophase I stage of meiosis. TRIP13 is required for depletion from synapsed chromosomes (By similarity).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134889862.

Polymorphism and mutation databases

BioMutaiHORMAD2.
DMDMi145558934.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 307307HORMA domain-containing protein 2PRO_0000284669Add
BLAST

Post-translational modificationi

Phosphorylated in a SPO11-dependent manner.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N7B1.
PeptideAtlasiQ8N7B1.
PRIDEiQ8N7B1.

PTM databases

iPTMnetiQ8N7B1.
PhosphoSiteiQ8N7B1.

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

BgeeiQ8N7B1.
CleanExiHS_HORMAD2.
ExpressionAtlasiQ8N7B1. baseline and differential.
GenevisibleiQ8N7B1. HS.

Organism-specific databases

HPAiHPA003074.

Interactioni

Subunit structurei

Interacts with HORMAD1.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000336984.

Structurei

3D structure databases

ProteinModelPortaliQ8N7B1.
SMRiQ8N7B1. Positions 18-240.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini29 – 234206HORMAPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 HORMA domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4652. Eukaryota.
ENOG410XT4N. LUCA.
GeneTreeiENSGT00390000018130.
HOGENOMiHOG000293366.
HOVERGENiHBG074209.
InParanoidiQ8N7B1.
OMAiKEPINVQ.
OrthoDBiEOG78M03D.
PhylomeDBiQ8N7B1.
TreeFamiTF313989.

Family and domain databases

Gene3Di3.30.900.10. 1 hit.
InterProiIPR003511. HORMA_dom.
[Graphical view]
PfamiPF02301. HORMA. 1 hit.
[Graphical view]
SUPFAMiSSF56019. SSF56019. 1 hit.
PROSITEiPS50815. HORMA. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti217 – 2171N → D in BAC05388 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21A → T.
Corresponds to variant rs34150968 [ dbSNP | Ensembl ].
VAR_031802
Natural varianti20 – 201V → L.
Corresponds to variant rs34305723 [ dbSNP | Ensembl ].
VAR_031803

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_689723.1. NM_152510.2.
XP_011528219.1. XM_011529917.1.
UniGeneiHs.120391.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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_689723.1. NM_152510.2.
XP_011528219.1. XM_011529917.1.
UniGeneiHs.120391.

3D structure databases

ProteinModelPortaliQ8N7B1.
SMRiQ8N7B1. Positions 18-240.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000336984.

PTM databases

iPTMnetiQ8N7B1.
PhosphoSiteiQ8N7B1.

Polymorphism and mutation databases

BioMutaiHORMAD2.
DMDMi145558934.

Proteomic databases

PaxDbiQ8N7B1.
PeptideAtlasiQ8N7B1.
PRIDEiQ8N7B1.

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.
GeneCardsiHORMAD2.
HGNCiHGNC:28383. HORMAD2.
HPAiHPA003074.
neXtProtiNX_Q8N7B1.
PharmGKBiPA134889862.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4652. Eukaryota.
ENOG410XT4N. LUCA.
GeneTreeiENSGT00390000018130.
HOGENOMiHOG000293366.
HOVERGENiHBG074209.
InParanoidiQ8N7B1.
OMAiKEPINVQ.
OrthoDBiEOG78M03D.
PhylomeDBiQ8N7B1.
TreeFamiTF313989.

Miscellaneous databases

GeneWikiiHORMAD2.
GenomeRNAii150280.
PROiQ8N7B1.

Gene expression databases

BgeeiQ8N7B1.
CleanExiHS_HORMAD2.
ExpressionAtlasiQ8N7B1. baseline and differential.
GenevisibleiQ8N7B1. HS.

Family and domain databases

Gene3Di3.30.900.10. 1 hit.
InterProiIPR003511. HORMA_dom.
[Graphical view]
PfamiPF02301. HORMA. 1 hit.
[Graphical view]
SUPFAMiSSF56019. SSF56019. 1 hit.
PROSITEiPS50815. HORMA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  3. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  6. "Identification of CT46/HORMAD1, an immunogenic cancer/testis antigen encoding a putative meiosis-related protein."
    Chen Y.-T., Venditti C.A., Theiler G., Stevenson B.J., Iseli C., Gure A.O., Jongeneel C.V., Old L.J., Simpson A.J.G.
    Cancer Immun. 5:9-9(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION, TISSUE SPECIFICITY.
  7. "HORMAD2/CT46.2, a novel cancer/testis gene, is ectopically expressed in lung cancer tissues."
    Liu M., Chen J., Hu L., Shi X., Zhou Z., Hu Z., Sha J.
    Mol. Hum. Reprod. 18:599-604(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiHORM2_HUMAN
AccessioniPrimary (citable) accession number: Q8N7B1
Secondary accession number(s): B5MEB2, Q8NHR2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: July 6, 2016
This is version 90 of the entry and version 2 of the sequence. [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 chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.