Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
374354
Gene name Gene Name - the full gene name approved by the HGNC.
NHL repeat containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NHLRC2
Synonyms (NCBI Gene) Gene synonyms aliases
FINCA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FINCA
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.3
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618277 24731 ENSG00000196865
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Detected in heart, kidney, muscle, brain, lung, liver and in skin fibroblasts (at protein level). {ECO:0000269|PubMed:29423877}.
Sequence
MAAPGGRGRSLSGLLPAQTSLEYALLDAVTQQEKDSLVYQYLQKVDGWEQDLSVPEFPEG
LEWLNTEEPISVYKDLCGKIVVLDFFTYCCINCIHLLPDLHALEHTYSDKDGLLIIGVHS
AKFPNEKVLDNIKSAVLRYNITHPMVNDADASLWQELEVSCWPTLVILGPRGNM
LFSLIG
EGHKDKLFLYTSIALKYYKDRGQIRDNKIGIKLYKDSLPPSPLLFPGKVTVDQVTDRLVI
ADTGHHRILVVWKNGQIQYSIGGPNPGRKDGIFSESTFNSPQGVAIMNNIIYVADTENHL
IRKI
DLEAEKVSTVAGIGIQGTDKEGGAKGEQQPISSPWDVVFGTSGSEVQRGDILWIAM
AGTHQIWALLLDSGKLPKKNELTKGTCLRFAGSGNEENRNNAYPHKAGFAQPSGLSLASE
DPWSCLFVADSESSTVRTVSLKDGAVKHLVGGERDPMNLFAFGDVDGVGINAKLQHPLGV
TWDKKRNLLYVADSYNHKIKVV
DPKTKNCTTLAGTGDTNNVTSSSFTESTFNEPGGLCIG
ENGELLYVADTNNHQIKVM
DLETKMVSVLPIFRSENAVVDGPFLVEKQKTLPKLPKSAPS
IRLSPVTACAGQTLQFKLRLDLPSGSKLTEGVSSCWFLTAEGNEWLLQGQIAAGDIENIS
SQPTISLQIPDDCLSLEAIVSVSVFLYYCSADSSACMMKAILFSQPLQITDTQQGCIAPV
ELRYVF
Sequence length 726
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Elliptocytosis Elliptocytosis, Hereditary rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305
View all (1 more)
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
View all (18 more)
Unknown
Disease term Disease name Evidence References Source
Obsessive-Compulsive Disorder Obsessive-Compulsive Disorder GWAS
Hypertension Hypertension GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31402485
Angiomatosis Associate 30138417
Cerebral Small Vessel Diseases Stimulate 39826584
Critical Illness Associate 35801790
Death Associate 35801790
Depression Postpartum Associate 35801790
Developmental Disabilities Associate 37188825
Disease Associate 30138417
Epilepsy Associate 37188825
Fibrosis Associate 30138417, 37188825