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Protein-coding gene in the species Homo sapiens
Whirlin is a protein that in humans is encoded by the DFNB31 gene. In rat brain, WHRN interacts with a calmodulin-dependent serine kinase, CASK, and may
DFNB31
Recessive genetic disorder causing deafblindness
be caused by mutations in any of three different genes: USH2A, GPR98 and DFNB31. The protein encoded by the USH2A gene, usherin, is located in the supportive
Usher_syndrome
Complete set of nucleic acid sequences for humans
worldwide SMPD1 Usher syndrome 1:23000 in the U.S. 1:28000 in Norway 1:12500 in Germany CDH23, CLRN1, DFNB31, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A
Human_genome
births Usher syndrome MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 recessive 3-6:100,000 (type I) Variegate porphyria PPOX dominant
List_of_genetic_disorders
Medical condition
609823 TRIOBP DFNB28 614035 CLDN14 DFNB29 607101 MYO3A DFNB30 607084 WHRN DFNB31 608565 ESRRB DFNB35 609006 ESPN DFNB36 607821 MYO6 DFNB37 608265 HGF DFNB39
Nonsyndromic_deafness
Protein family
ARHGEF11 ARHGEF12 CARD10 CARD11 CARD14 CASK CLP-36 CNKSR2 CNKSR3 CRTAM DFNB31 DLG1 DLG2 DLG3 DLG4 DLG5 DVL1 DVL1L1 DVL2 DVL3 ERBB2IP FRMPD1 FRMPD2 FRMPD2L1
PDZ_domain
Protein-coding gene in the species Homo sapiens
red circle is TMEM268's coding region, which is surrounded by neighbors DFNB31 and ATP6V1G1. Eight different alternative splice variants for TMEM268 have
Transmembrane_protein_268
DFNB31
DFNB31
DFNB31
DFNB31
Boy/Male
American, British, English
From the Woodcutter's Ford
Boy/Male
British, English
From the Meadow
Girl/Female
Assamese, Bengali, Hindu, Indian, Kannada, Malayalam, Marathi, Sindhi, Telugu, Traditional
Mother of the World
Boy/Male
Hindu
Girl/Female
Tamil
Sphurti | ஸà¯à®ªà¯‚à®°à¯à®¤à®¿Â
Full of energy
Girl/Female
Greek
Immortal.
Boy/Male
Bengali, Indian
One who has Three Forms
Boy/Male
Hindu, Indian
Pious; Pure
Biblical
a lamb; as taken away; withdrawn
Boy/Male
Indian, Sanskrit
Cleansing
DFNB31
DFNB31
DFNB31
DFNB31
DFNB31