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Entry version 122 (26 Feb 2020)
Sequence version 1 (01 Mar 2001)
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Protein

Glutamine-rich protein 2

Gene

QRICH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Has an essential role in the formation of sperm flagella and flagellar structure maintainance. It acts as a suppressor of ubiquitination and degradation of proteins involved in flagellar development and motility.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glutamine-rich protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:QRICH2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25326 QRICH2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
618304 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H0J4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Flagellum, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spermatogenic failure 35 (SPGF35)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum and severely impaired spermatozoa motility.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08201864 – 1663Missing in SPGF35; the protein is not detected in patient spermatozoa. 1 PublicationAdd BLAST1600
Natural variantiVAR_082019569V → E in SPGF35; unknown pathological significance. 1 Publication1
Natural variantiVAR_0820201013 – 1663Missing in SPGF35; weak amount of protein detected in patient spermatozoa. 1 PublicationAdd BLAST651
Natural variantiVAR_0820211105Q → K in SPGF35; unknown pathological significance. 1 Publication1
Natural variantiVAR_0820221112G → E in SPGF35; unknown pathological significance. 1 Publication1
Natural variantiVAR_0820231127 – 1663Missing in SPGF35. 1 PublicationAdd BLAST537
Natural variantiVAR_0820241347M → V in SPGF35; unknown pathological significance. 1 Publication1
Natural variantiVAR_0820251494R → H in SPGF35; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
84074

MalaCards human disease database

More...
MalaCardsi
QRICH2
MIMi618341 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000129646

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671107

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H0J4 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
QRICH2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74717987

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002958141 – 1663Glutamine-rich protein 2Add BLAST1663

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H0J4

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H0J4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H0J4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H0J4

PeptideAtlas

More...
PeptideAtlasi
Q9H0J4

PRoteomics IDEntifications database

More...
PRIDEi
Q9H0J4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80286 [Q9H0J4-1]
80287 [Q9H0J4-2]
80288 [Q9H0J4-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H0J4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H0J4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the sperm.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000129646 Expressed in testis and 107 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H0J4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H0J4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA052219

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with AKAP3, ODF2 and TSSK4.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123869, 7 interactors

Database of interacting proteins

More...
DIPi
DIP-50256N

Protein interaction database and analysis system

More...
IntActi
Q9H0J4, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262765

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H0J4 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H0J4

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1085 – 1160Sequence analysisAdd BLAST76
Coiled coili1286 – 1325Sequence analysisAdd BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi381 – 759Gln-richAdd BLAST379

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410JR2U Eukaryota
ENOG4111JFX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161294

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_003234_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H0J4

Database of Orthologous Groups

More...
OrthoDBi
430976at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H0J4

TreeFam database of animal gene trees

More...
TreeFami
TF334838

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032013 DUF4795

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16043 DUF4795, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H0J4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKDAAEELSF ARVLLQRVDE LEKLFKDREQ FLELVSRKLS LVPGAEEVTM
60 70 80 90 100
VTWEELEQAI TDGWRASQAG SETLMGFSKH GGFTSLTSPE GTLSGDSTKQ
110 120 130 140 150
PSIEQALDSA SGLGPDRTAS GSGGTAHPSD GVSSREQSKV PSGTGRQQQP
160 170 180 190 200
RARDEAGVPR LHQSSTFQFK SDSDRHRSRE KLTSTQPRRN ARPGPVQQDL
210 220 230 240 250
PLARDQPSSV PASQSQVHLR PDRRGLEPTG MNQPGLVPAS TYPHGVVPLS
260 270 280 290 300
MGQLGVPPPE MDDRELIPFV VDEQRMLPPS VPGRDQQGLE LPSTDQHGLV
310 320 330 340 350
SVSAYQHGMT FPGTDQRSME PLGMDQRGCV ISGMGQQGLV PPGIDQQGLT
360 370 380 390 400
LPVVDQHGLV LPFTDQHGLV SPGLMPISAD QQGFVQPSLE ATGFIQPGTE
410 420 430 440 450
QHDLIQSGRF QRALVQRGAY QPGLVQPGAD QRGLVRPGMD QSGLAQPGAD
460 470 480 490 500
QRGLVWPGMD QSGLAQPGRD QHGLIQPGTG QHDLVQSGTG QGVLVQPGVD
510 520 530 540 550
QPGMVQPGRF QRALVQPGAY QPGLVQPGAD QIDVVQPGAD QHGLVQSGAD
560 570 580 590 600
QSDLAQPGAV QHGLVQPGVD QRGLAQPRAD HQRGLVPPGA DQRGLVQPGA
610 620 630 640 650
DQHGLVQPGV DQHGLAQPGE VQRSLVQPGI VQRGLVQPGA VQRGLVQPGA
660 670 680 690 700
VQRGLVQPGV DQRGLVQPGA VQRGLVQPGA VQHGLVQPGA DQRGLVQPGV
710 720 730 740 750
DQRGLVQPGV DQRGLVQPGM DQRGLIQPGA DQPGLVQPGA GQLGMVQPGI
760 770 780 790 800
GQQGMVQPQA DPHGLVQPGA YPLGLVQPGA YLHDLSQSGT YPRGLVQPGM
810 820 830 840 850
DQYGLRQPGA YQPGLIAPGT KLRGSSTFQA DSTGFISVRP YQHGMVPPGR
860 870 880 890 900
EQYGQVSPLL ASQGLASPGI DRRSLVPPET YQQGLMHPGT DQHSPIPLST
910 920 930 940 950
GLGSTHPDQQ HVASPGPGEH DQVYPDAAQH GHAFSLFDSH DSMYPGYRGP
960 970 980 990 1000
GYLSADQHGQ EGLDPNRTRA SDRHGIPAQK APGQDVTLFR SPDSVDRVLS
1010 1020 1030 1040 1050
EGSEVSSEVL SERRNSLRRM SSSFPTAVET FHLMGELSSL YVGLKESMKD
1060 1070 1080 1090 1100
LDEEQAGQTD LEKIQFLLAQ MVKRTIPPEL QEQLKTVKTL AKEVWQEKAK
1110 1120 1130 1140 1150
VERLQRILEG EGNQEAGKEL KAGELRLQLG VLRVTVADIE KELAELRESQ
1160 1170 1180 1190 1200
DRGKAAMENS VSEASLYLQD QLDKLRMIIE SMLTSSSTLL SMSMAPHKAH
1210 1220 1230 1240 1250
TLAPGQIDPE ATCPACSLDV SHQVSTLVRR YEQLQDMVNS LAVSRPSKKA
1260 1270 1280 1290 1300
KLQRQDEELL GRVQSAILQV QGDCEKLNIT TSNLIEDHRQ KQKDIAMLYQ
1310 1320 1330 1340 1350
GLEKLEKEKA NREHLEMEID VKADKSALAT KVSRVQFDAT TEQLNHMMQE
1360 1370 1380 1390 1400
LVAKMSGQEQ DWQKMLDRLL TEMDNKLDRL ELDPVKQLLE DRWKSLRQQL
1410 1420 1430 1440 1450
RERPPLYQAD EAAAMRRQLL AHFHCLSCDR PLETPVTGHA IPVTPAGPGL
1460 1470 1480 1490 1500
PGHHSIRPYT VFELEQVRQH SRNLKLGSAF PRGDLAQMEQ SVGRLRSMHS
1510 1520 1530 1540 1550
KMLMNIEKVQ IHFGGSTKAS SQIIRELLHA QCLGSPCYKR VTDMADYTYS
1560 1570 1580 1590 1600
TVPRRCGGSH TLTYPYHRSR PQHLPRGLYP TEEIQIAMKH DEVDILGLDG
1610 1620 1630 1640 1650
HIYKGRMDTR LPGILRKDSS GTSKRKSQQP RPHVHRPPSL SSNGQLPSRP
1660
QSAQISAGNT SER
Length:1,663
Mass (Da):180,827
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i62E1441FEF5C4DEE
GO
Isoform 2 (identifier: Q9H0J4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1375-1375: N → A
     1376-1609: Missing.

Show »
Length:1,429
Mass (Da):154,070
Checksum:iBE4BAC832CCEC479
GO
Isoform 3 (identifier: Q9H0J4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1156: Missing.

Show »
Length:507
Mass (Da):57,425
Checksum:iF41467537699549C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YDB9H0YDB9_HUMAN
Glutamine-rich protein 2
QRICH2
280Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GW36A0A1B0GW36_HUMAN
Glutamine-rich protein 2
QRICH2
1,829Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0E3H7C0E3_HUMAN
Glutamine-rich protein 2
QRICH2
495Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PPH7E9PPH7_HUMAN
Glutamine-rich protein 2
QRICH2
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB71667 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08201864 – 1663Missing in SPGF35; the protein is not detected in patient spermatozoa. 1 PublicationAdd BLAST1600
Natural variantiVAR_051295202L → S. Corresponds to variant dbSNP:rs6501880Ensembl.1
Natural variantiVAR_082019569V → E in SPGF35; unknown pathological significance. 1 Publication1
Natural variantiVAR_051296630I → T. Corresponds to variant dbSNP:rs6501878Ensembl.1
Natural variantiVAR_059711630I → V. Corresponds to variant dbSNP:rs6501879Ensembl.1
Natural variantiVAR_059712681V → D. Corresponds to variant dbSNP:rs6501874Ensembl.1
Natural variantiVAR_051297906H → Y. Corresponds to variant dbSNP:rs2279054Ensembl.1
Natural variantiVAR_051298974H → R. Corresponds to variant dbSNP:rs2279053Ensembl.1
Natural variantiVAR_0820201013 – 1663Missing in SPGF35; weak amount of protein detected in patient spermatozoa. 1 PublicationAdd BLAST651
Natural variantiVAR_0512991036E → Q1 PublicationCorresponds to variant dbSNP:rs2279052Ensembl.1
Natural variantiVAR_0820211105Q → K in SPGF35; unknown pathological significance. 1 Publication1
Natural variantiVAR_0820221112G → E in SPGF35; unknown pathological significance. 1 Publication1
Natural variantiVAR_0820231127 – 1663Missing in SPGF35. 1 PublicationAdd BLAST537
Natural variantiVAR_0820241347M → V in SPGF35; unknown pathological significance. 1 Publication1
Natural variantiVAR_0820251494R → H in SPGF35; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0271011 – 1156Missing in isoform 3. 1 PublicationAdd BLAST1156
Alternative sequenceiVSP_0271021375N → A in isoform 2. 1 Publication1
Alternative sequenceiVSP_0271031376 – 1609Missing in isoform 2. 1 PublicationAdd BLAST234

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AL136774 mRNA Translation: CAB66708.1
BC131559 mRNA Translation: AAI31560.1
AK058102 mRNA Translation: BAB71667.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS32741.1 [Q9H0J4-1]

NCBI Reference Sequences

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RefSeqi
NP_115510.1, NM_032134.2 [Q9H0J4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262765; ENSP00000262765; ENSG00000129646 [Q9H0J4-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84074

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84074

UCSC genome browser

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UCSCi
uc002jrd.1 human [Q9H0J4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136774 mRNA Translation: CAB66708.1
BC131559 mRNA Translation: AAI31560.1
AK058102 mRNA Translation: BAB71667.1 Different initiation.
CCDSiCCDS32741.1 [Q9H0J4-1]
RefSeqiNP_115510.1, NM_032134.2 [Q9H0J4-1]

3D structure databases

SMRiQ9H0J4
ModBaseiSearch...

Protein-protein interaction databases

BioGridi123869, 7 interactors
DIPiDIP-50256N
IntActiQ9H0J4, 3 interactors
STRINGi9606.ENSP00000262765

PTM databases

iPTMnetiQ9H0J4
PhosphoSitePlusiQ9H0J4

Polymorphism and mutation databases

BioMutaiQRICH2
DMDMi74717987

Proteomic databases

EPDiQ9H0J4
jPOSTiQ9H0J4
MassIVEiQ9H0J4
PaxDbiQ9H0J4
PeptideAtlasiQ9H0J4
PRIDEiQ9H0J4
ProteomicsDBi80286 [Q9H0J4-1]
80287 [Q9H0J4-2]
80288 [Q9H0J4-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
84074

Genome annotation databases

EnsembliENST00000262765; ENSP00000262765; ENSG00000129646 [Q9H0J4-1]
GeneIDi84074
KEGGihsa:84074
UCSCiuc002jrd.1 human [Q9H0J4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84074
DisGeNETi84074

GeneCards: human genes, protein and diseases

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GeneCardsi
QRICH2
HGNCiHGNC:25326 QRICH2
HPAiHPA052219
MalaCardsiQRICH2
MIMi618304 gene
618341 phenotype
neXtProtiNX_Q9H0J4
OpenTargetsiENSG00000129646
PharmGKBiPA142671107

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410JR2U Eukaryota
ENOG4111JFX LUCA
GeneTreeiENSGT00940000161294
HOGENOMiCLU_003234_0_0_1
InParanoidiQ9H0J4
OrthoDBi430976at2759
PhylomeDBiQ9H0J4
TreeFamiTF334838

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
QRICH2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
84074
PharosiQ9H0J4 Tdark

Protein Ontology

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PROi
PR:Q9H0J4
RNActiQ9H0J4 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000129646 Expressed in testis and 107 other tissues
ExpressionAtlasiQ9H0J4 baseline and differential
GenevisibleiQ9H0J4 HS

Family and domain databases

InterProiView protein in InterPro
IPR032013 DUF4795
PfamiView protein in Pfam
PF16043 DUF4795, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiQRIC2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H0J4
Secondary accession number(s): A2RRE1, Q96LM3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: March 1, 2001
Last modified: February 26, 2020
This is version 122 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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