Gene Gene information from NCBI Gene database.
Entrez ID 100652824
Gene name KIAA2012
Gene symbol KIAA2012
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q33.1
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q0VF49
Protein name Uncharacterized protein KIAA2012
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15709 DUF4670 659 1172 Family
Sequence
MFTLSLLSRGHGKLGQDKQKLEVYFEPEDYLNWRSPEDYVPVSKPQDKNNASQHSWSLFL
PKTFSTRKGALILYSEGFAISAWTPKERRKGPYCPRGPWRKLDLELHTLQDLKEAILAYG
RQQGEQDRAWQPYLHFRSQLESQAQRQIQPGHSAKRYLRGLLRTWPPDAMYRLWCAGYIK
DSVLLQDSQLNVPKKLRPQQDLSGVPPKYHLLPVFPSFWIQQGKSFEQRQQGLDEGEAGA
AGHVDQGPLAKNHGSQGTRLPPRRKQPWQEDETQAEDTSIENHLCLYASKESYNEKTQQT
SRKAFGHGRIDHSWLPSDKSHITFCGGAFPNRKADLSDKQRNVKLHKARSSHLLQVLPAE
RSLFPPVASATGSRIITPGEVKKKKAPKALKLPPISEEPPRVLEPLKSQFKANEPPTELF
ILPVEIHYHTKQPPKEKAHRRGAPHPESEPESSEESTPVWRPPLKHASLETPWELTVHLP
VDASRDTLSPQGSSSLPPASLGNLTLKGSKARHTRVHSQGKGVWKGDDDAPPHDVAPPLD
LLPPIKGKKSPESQKGVDSPRTSDHNSPPSLPNMRVPRRALPAAQEDSSDPTLGHFLLGP
DGEKVCLSLPGHTQTEALPSGKAYESVNSNISHEEEGPSSQHFLKANTEPRANLHMNLYE
TSPLTQTTEKQGAQQSLEAAAQKTGEPQSCINKALICSNRKEFYTRKLHIDMTPFLKESG
NALDYQEEAGRPLRETHHNDQDPEPRSMTLDSPRASRTEHIQTPEADIVQKVGRDYDVHH
LHRGLLGYGPESPERLSAVYTSLLPREREGKAEPRLFSQETSANISHERDLINEAKRKEK
PKKDKTKGPKSEREGKVYGQAEAAIGKSKDSKAKKKLEKKTRPQRKRTQKERNLEIAAEL
SGPDVSYEETEDTSNRGSFASDSFVEDPWLSPKYDAQESQVSLDGRSSPSQIATVTGNME
SKEERRCEDPSKALLTKREQEKASWDRLRAERAEMRWLEVEKKRREQEEQRQLQQEQLER
AKKMEEELELEQQRRTEEIRLRKQRLQEEQQRQEEEERKQQLRLKAAQERARQQQEEFRR
KLRELQRKKQQEEAERAEAEKQRQEELEMQLEEEQKHLMEMAEEERLEYQRRKQEAEEKA
RLEAEERRQKEEEAARLALEEATKQAQEQARY
WIFGQQLP
Sequence length 1180
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations