GediPNet logo

NHLRC2 (NHL repeat containing 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
374354
Gene nameGene Name - the full gene name approved by the HGNC.
NHL repeat containing 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NHLRC2
SynonymsGene synonyms aliases
FINCA
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.3
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs201701259 G>T Pathogenic Coding sequence variant, missense variant
rs757267294 AG>- Pathogenic Coding sequence variant, frameshift variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016448 hsa-miR-193b-3p Microarray 20304954
MIRT041811 hsa-miR-484 CLASH 23622248
MIRT701435 hsa-miR-98-5p HITS-CLIP 23313552
MIRT701434 hsa-miR-4500 HITS-CLIP 23313552
MIRT701433 hsa-let-7i-5p HITS-CLIP 23313552
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002576 Process Platelet degranulation TAS
GO:0005515 Function Protein binding IPI 25416956
GO:0005576 Component Extracellular region TAS
GO:0005829 Component Cytosol IDA 30239752
GO:0031093 Component Platelet alpha granule lumen TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q8NBF2
Protein name NHL repeat-containing protein 2
Protein function Required for normal embryonic development.
PDB 6G7W , 6GC1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13905 Thioredoxin_8
78 174
Thioredoxin-like
Domain
PF01436 NHL
278 304
NHL repeat
Repeat
PF01436 NHL
474 502
NHL repeat
Repeat
PF01436 NHL
531 559
NHL repeat
Repeat
Sequence
MAAPGGRGRSLSGLLPAQTSLEYALLDAVTQQEKDSLVYQYLQKVDGWEQDLSVPEFPEG
LEWLNTEEPISVYKDLCGKIVVLDFFTYCCINCIHLLPDLHALEHTYSDKDGLLIIGVHS
AKFPNEKVLDNIKSAVLRYNITHPMVNDADASLWQELEVSCWPTLVILGPRGNM
LFSLIG
EGHKDKLFLYTSIALKYYKDRGQIRDNKIGIKLYKDSLPPSPLLFPGKVTVDQVTDRLVI
ADTGHHRILVVWKNGQIQYSIGGPNPGRKDGIFSESTFNSPQGVAIMNNIIYVADTENHL
IRKI
DLEAEKVSTVAGIGIQGTDKEGGAKGEQQPISSPWDVVFGTSGSEVQRGDILWIAM
AGTHQIWALLLDSGKLPKKNELTKGTCLRFAGSGNEENRNNAYPHKAGFAQPSGLSLASE
DPWSCLFVADSESSTVRTVSLKDGAVKHLVGGERDPMNLFAFGDVDGVGINAKLQHPLGV
TWDKKRNLLYVADSYNHKIKVV
DPKTKNCTTLAGTGDTNNVTSSSFTESTFNEPGGLCIG
ENGELLYVADTNNHQIKVM
DLETKMVSVLPIFRSENAVVDGPFLVEKQKTLPKLPKSAPS
IRLSPVTACAGQTLQFKLRLDLPSGSKLTEGVSSCWFLTAEGNEWLLQGQIAAGDIENIS
SQPTISLQIPDDCLSLEAIVSVSVFLYYCSADSSACMMKAILFSQPLQITDTQQGCIAPV
ELRYVF
Sequence length 726
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Platelet degranulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Elliptocytosis Elliptocytosis, Hereditary rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564
Fibrosis, neurodegeneration, and cerebral angiomatosis FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS rs201701259, rs757267294 29423877
Hemolytic anemia Chronic hemolytic anemia rs104894025, rs104894026, rs397518435, rs397518436, rs104894027, rs397518437, rs104894028, rs397518438, rs104894029, rs137853583, rs137853585, rs137853586, rs137853587, rs267606851, rs267606852, rs267606853, rs137853249, rs33924146, rs104894101, rs104894102, rs137853203, rs137853204, rs137853205, rs387906582, rs387906583, rs398122379, rs1064794848, rs774419705, rs1555367318, rs1345036090, rs1586033745, rs1571436535, rs2022057
Unknown
Disease name Disease term dbSNP ID References
Brain atrophy Brain atrophy
Cerebral atrophy Cerebral atrophy
Hypoplasia of corpus callosum Hypoplasia of corpus callosum
Quadriplegia Quadriplegia

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412