MCPH1 (microcephalin 1)

Gene

• Entrez ID: 79648
• Gene name: Microcephalin 1
• Gene symbol: MCPH1
• Synonyms (NCBI Gene): BRIT1, MCT
• Chromosome: 8
• Chromosome location: 8p23.1
• Summary: This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41313952	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs77959215	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs121434305	C>G	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs139607465	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant, intron variant, non coding transcript variant
rs139678787	A>G,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant
rs183880522	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs192003514	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs199422124	C>G,T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs199422125	->A	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs372450763	A>C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs387906961	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs541042265	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs548329168	C>A,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs572671721	G>C,T	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587783733	T>C	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs587783735	AT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs587783741	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs727504012	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs748011724	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs753597039	->A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs755862917	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs759663956	A>-,AA,AAAAAAA	Pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, inframe insertion, coding sequence variant
rs1424203921	A>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1427099165	G>A,C	Likely-pathogenic	Missense variant, intron variant, stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1488084787	C>G,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs1554476471	TTA>GTG	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs1554496609	->CA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017612	hsa-miR-335-5p	Microarray	18185580
MIRT047634	hsa-miR-10a-5p	CLASH	23622248
MIRT046507	hsa-miR-15b-5p	CLASH	23622248
MIRT1137975	hsa-miR-1184	CLIP-seq
MIRT1137976	hsa-miR-1297	CLIP-seq
MIRT1137977	hsa-miR-141	CLIP-seq
MIRT1137978	hsa-miR-200a	CLIP-seq
MIRT1137979	hsa-miR-26a	CLIP-seq
MIRT1137980	hsa-miR-26b	CLIP-seq
MIRT1137981	hsa-miR-329	CLIP-seq
MIRT1137982	hsa-miR-362-3p	CLIP-seq
MIRT1137983	hsa-miR-3689d	CLIP-seq
MIRT1137984	hsa-miR-376a	CLIP-seq
MIRT1137985	hsa-miR-376b	CLIP-seq
MIRT1137986	hsa-miR-3941	CLIP-seq
MIRT1137987	hsa-miR-3977	CLIP-seq
MIRT1137988	hsa-miR-4432	CLIP-seq
MIRT1137989	hsa-miR-4443	CLIP-seq
MIRT1137990	hsa-miR-4465	CLIP-seq
MIRT1137991	hsa-miR-4659a-3p	CLIP-seq
MIRT1137992	hsa-miR-4659b-3p	CLIP-seq
MIRT1137993	hsa-miR-466	CLIP-seq
MIRT1137994	hsa-miR-4672	CLIP-seq
MIRT1137995	hsa-miR-487b	CLIP-seq
MIRT1137996	hsa-miR-498	CLIP-seq
MIRT1137997	hsa-miR-520d-5p	CLIP-seq
MIRT1137998	hsa-miR-524-5p	CLIP-seq
MIRT1137999	hsa-miR-548ae	CLIP-seq
MIRT1138000	hsa-miR-548aj	CLIP-seq
MIRT1138001	hsa-miR-548am	CLIP-seq
MIRT1138002	hsa-miR-548p	CLIP-seq
MIRT1138003	hsa-miR-548x	CLIP-seq
MIRT1138004	hsa-miR-561	CLIP-seq
MIRT1138005	hsa-miR-582-5p	CLIP-seq
MIRT1138006	hsa-miR-603	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT1138009	hsa-miR-1227	CLIP-seq
MIRT1138010	hsa-miR-181a	CLIP-seq
MIRT1138011	hsa-miR-181b	CLIP-seq
MIRT1138012	hsa-miR-181c	CLIP-seq
MIRT1138013	hsa-miR-181d	CLIP-seq
MIRT1138014	hsa-miR-25	CLIP-seq
MIRT1138015	hsa-miR-3153	CLIP-seq
MIRT1138016	hsa-miR-32	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT1138018	hsa-miR-3607-3p	CLIP-seq
MIRT1138019	hsa-miR-3622a-3p	CLIP-seq
MIRT1138020	hsa-miR-3622b-3p	CLIP-seq
MIRT1138021	hsa-miR-363	CLIP-seq
MIRT1138022	hsa-miR-3660	CLIP-seq
MIRT1138023	hsa-miR-367	CLIP-seq
MIRT1138024	hsa-miR-3670	CLIP-seq
MIRT1138025	hsa-miR-3686	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT1138027	hsa-miR-3937	CLIP-seq
MIRT1138028	hsa-miR-4261	CLIP-seq
MIRT1138029	hsa-miR-4262	CLIP-seq
MIRT1138030	hsa-miR-4275	CLIP-seq
MIRT1138031	hsa-miR-4325	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT1138033	hsa-miR-4526	CLIP-seq
MIRT1138034	hsa-miR-4537	CLIP-seq
MIRT1138035	hsa-miR-4646-5p	CLIP-seq
MIRT1138036	hsa-miR-4668-5p	CLIP-seq
MIRT1138037	hsa-miR-4677-3p	CLIP-seq
MIRT1138038	hsa-miR-4679	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT1138040	hsa-miR-4704-3p	CLIP-seq
MIRT1138041	hsa-miR-4786-5p	CLIP-seq
MIRT1138042	hsa-miR-494	CLIP-seq
MIRT1138043	hsa-miR-508-5p	CLIP-seq
MIRT1138044	hsa-miR-548a-3p	CLIP-seq
MIRT1138045	hsa-miR-548e	CLIP-seq
MIRT1138046	hsa-miR-548f	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138049	hsa-miR-661	CLIP-seq
MIRT1138050	hsa-miR-766	CLIP-seq
MIRT1138051	hsa-miR-769-5p	CLIP-seq
MIRT1138052	hsa-miR-92a	CLIP-seq
MIRT1138053	hsa-miR-92b	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT1138010	hsa-miR-181a	CLIP-seq
MIRT1138011	hsa-miR-181b	CLIP-seq
MIRT1138012	hsa-miR-181c	CLIP-seq
MIRT1138013	hsa-miR-181d	CLIP-seq
MIRT2039173	hsa-miR-1827	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT1138018	hsa-miR-3607-3p	CLIP-seq
MIRT2039174	hsa-miR-3664-3p	CLIP-seq
MIRT1138025	hsa-miR-3686	CLIP-seq
MIRT2039175	hsa-miR-3921	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT2039176	hsa-miR-3929	CLIP-seq
MIRT1138029	hsa-miR-4262	CLIP-seq
MIRT2039177	hsa-miR-4419b	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT2039178	hsa-miR-4433	CLIP-seq
MIRT2039179	hsa-miR-4459	CLIP-seq
MIRT2039180	hsa-miR-4470	CLIP-seq
MIRT2039181	hsa-miR-4478	CLIP-seq
MIRT2039182	hsa-miR-4511	CLIP-seq
MIRT2039183	hsa-miR-4643	CLIP-seq
MIRT2039184	hsa-miR-4649-3p	CLIP-seq
MIRT2039185	hsa-miR-4653-5p	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT2039186	hsa-miR-4695-5p	CLIP-seq
MIRT2039187	hsa-miR-4717-3p	CLIP-seq
MIRT2039188	hsa-miR-4766-5p	CLIP-seq
MIRT2039189	hsa-miR-4768-3p	CLIP-seq
MIRT2039190	hsa-miR-485-5p	CLIP-seq
MIRT1138042	hsa-miR-494	CLIP-seq
MIRT2039191	hsa-miR-510	CLIP-seq
MIRT2039192	hsa-miR-512-5p	CLIP-seq
MIRT2039193	hsa-miR-548b-3p	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT1138009	hsa-miR-1227	CLIP-seq
MIRT2269218	hsa-miR-1236	CLIP-seq
MIRT2269219	hsa-miR-1237	CLIP-seq
MIRT2269220	hsa-miR-1248	CLIP-seq
MIRT2269221	hsa-miR-128	CLIP-seq
MIRT2269222	hsa-miR-140-3p	CLIP-seq
MIRT2039173	hsa-miR-1827	CLIP-seq
MIRT2269223	hsa-miR-197	CLIP-seq
MIRT1138014	hsa-miR-25	CLIP-seq
MIRT2269224	hsa-miR-27a	CLIP-seq
MIRT2269225	hsa-miR-27b	CLIP-seq
MIRT1138015	hsa-miR-3153	CLIP-seq
MIRT2269226	hsa-miR-3192	CLIP-seq
MIRT1138016	hsa-miR-32	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT1138021	hsa-miR-363	CLIP-seq
MIRT2039174	hsa-miR-3664-3p	CLIP-seq
MIRT1138023	hsa-miR-367	CLIP-seq
MIRT2269227	hsa-miR-3672	CLIP-seq
MIRT2269228	hsa-miR-3689a-3p	CLIP-seq
MIRT2269229	hsa-miR-3689c	CLIP-seq
MIRT1137983	hsa-miR-3689d	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT2039176	hsa-miR-3929	CLIP-seq
MIRT2269230	hsa-miR-3944-5p	CLIP-seq
MIRT2269231	hsa-miR-412	CLIP-seq
MIRT1138028	hsa-miR-4261	CLIP-seq
MIRT2269232	hsa-miR-4328	CLIP-seq
MIRT2039177	hsa-miR-4419b	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT2039178	hsa-miR-4433	CLIP-seq
MIRT2269233	hsa-miR-4436b-3p	CLIP-seq
MIRT2039179	hsa-miR-4459	CLIP-seq
MIRT2039181	hsa-miR-4478	CLIP-seq
MIRT2269234	hsa-miR-450a	CLIP-seq
MIRT1138034	hsa-miR-4537	CLIP-seq
MIRT1138035	hsa-miR-4646-5p	CLIP-seq
MIRT2039184	hsa-miR-4649-3p	CLIP-seq
MIRT1138036	hsa-miR-4668-5p	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT2039186	hsa-miR-4695-5p	CLIP-seq
MIRT1138040	hsa-miR-4704-3p	CLIP-seq
MIRT2269235	hsa-miR-4728-5p	CLIP-seq
MIRT2269236	hsa-miR-4737	CLIP-seq
MIRT2269237	hsa-miR-4753-3p	CLIP-seq
MIRT2039189	hsa-miR-4768-3p	CLIP-seq
MIRT1138041	hsa-miR-4786-5p	CLIP-seq
MIRT2039190	hsa-miR-485-5p	CLIP-seq
MIRT2269238	hsa-miR-490-3p	CLIP-seq
MIRT1138043	hsa-miR-508-5p	CLIP-seq
MIRT2039191	hsa-miR-510	CLIP-seq
MIRT2039192	hsa-miR-512-5p	CLIP-seq
MIRT2269239	hsa-miR-513a-5p	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138049	hsa-miR-661	CLIP-seq
MIRT1138050	hsa-miR-766	CLIP-seq
MIRT1138051	hsa-miR-769-5p	CLIP-seq
MIRT2269240	hsa-miR-922	CLIP-seq
MIRT1138052	hsa-miR-92a	CLIP-seq
MIRT1138053	hsa-miR-92b	CLIP-seq
MIRT2269241	hsa-miR-942	CLIP-seq
MIRT1138009	hsa-miR-1227	CLIP-seq
MIRT1138014	hsa-miR-25	CLIP-seq
MIRT1138015	hsa-miR-3153	CLIP-seq
MIRT1138016	hsa-miR-32	CLIP-seq
MIRT1138021	hsa-miR-363	CLIP-seq
MIRT1138023	hsa-miR-367	CLIP-seq
MIRT1138028	hsa-miR-4261	CLIP-seq
MIRT1138031	hsa-miR-4325	CLIP-seq
MIRT1138034	hsa-miR-4537	CLIP-seq
MIRT1138035	hsa-miR-4646-5p	CLIP-seq
MIRT1138036	hsa-miR-4668-5p	CLIP-seq
MIRT1138043	hsa-miR-508-5p	CLIP-seq
MIRT1138049	hsa-miR-661	CLIP-seq
MIRT1138050	hsa-miR-766	CLIP-seq
MIRT1138052	hsa-miR-92a	CLIP-seq
MIRT1138053	hsa-miR-92b	CLIP-seq
MIRT2465611	hsa-miR-1264	CLIP-seq
MIRT2465612	hsa-miR-1270	CLIP-seq
MIRT2465613	hsa-miR-3121-3p	CLIP-seq
MIRT2465614	hsa-miR-432	CLIP-seq
MIRT2465615	hsa-miR-4434	CLIP-seq
MIRT2465616	hsa-miR-4516	CLIP-seq
MIRT2465617	hsa-miR-4531	CLIP-seq
MIRT2465618	hsa-miR-539	CLIP-seq
MIRT2465619	hsa-miR-620	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT2568482	hsa-miR-1283	CLIP-seq
MIRT2568483	hsa-miR-1286	CLIP-seq
MIRT1138010	hsa-miR-181a	CLIP-seq
MIRT1138011	hsa-miR-181b	CLIP-seq
MIRT1138012	hsa-miR-181c	CLIP-seq
MIRT1138013	hsa-miR-181d	CLIP-seq
MIRT2568484	hsa-miR-2116	CLIP-seq
MIRT2568485	hsa-miR-224	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT2568486	hsa-miR-3613-3p	CLIP-seq
MIRT1138019	hsa-miR-3622a-3p	CLIP-seq
MIRT1138020	hsa-miR-3622b-3p	CLIP-seq
MIRT2568487	hsa-miR-3622b-5p	CLIP-seq
MIRT2568488	hsa-miR-3653	CLIP-seq
MIRT2568489	hsa-miR-3658	CLIP-seq
MIRT1138024	hsa-miR-3670	CLIP-seq
MIRT2269227	hsa-miR-3672	CLIP-seq
MIRT2568490	hsa-miR-371-5p	CLIP-seq
MIRT2568491	hsa-miR-371b-5p	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT1138027	hsa-miR-3937	CLIP-seq
MIRT1138029	hsa-miR-4262	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT2269233	hsa-miR-4436b-3p	CLIP-seq
MIRT2039180	hsa-miR-4470	CLIP-seq
MIRT2039182	hsa-miR-4511	CLIP-seq
MIRT2039183	hsa-miR-4643	CLIP-seq
MIRT2568492	hsa-miR-4645-5p	CLIP-seq
MIRT2568493	hsa-miR-4662a-5p	CLIP-seq
MIRT2568494	hsa-miR-4673	CLIP-seq
MIRT2568495	hsa-miR-4676-5p	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT1138040	hsa-miR-4704-3p	CLIP-seq
MIRT2039187	hsa-miR-4717-3p	CLIP-seq
MIRT2568496	hsa-miR-4755-3p	CLIP-seq
MIRT1138041	hsa-miR-4786-5p	CLIP-seq
MIRT1138042	hsa-miR-494	CLIP-seq
MIRT1138044	hsa-miR-548a-3p	CLIP-seq
MIRT2039193	hsa-miR-548b-3p	CLIP-seq
MIRT1138045	hsa-miR-548e	CLIP-seq
MIRT1138046	hsa-miR-548f	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT2568497	hsa-miR-575	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138051	hsa-miR-769-5p	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT2568482	hsa-miR-1283	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT2568486	hsa-miR-3613-3p	CLIP-seq
MIRT2568490	hsa-miR-371-5p	CLIP-seq
MIRT2568491	hsa-miR-371b-5p	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT2568492	hsa-miR-4645-5p	CLIP-seq
MIRT2568493	hsa-miR-4662a-5p	CLIP-seq
MIRT2568494	hsa-miR-4673	CLIP-seq
MIRT2568495	hsa-miR-4676-5p	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT2568496	hsa-miR-4755-3p	CLIP-seq
MIRT1138041	hsa-miR-4786-5p	CLIP-seq
MIRT1138044	hsa-miR-548a-3p	CLIP-seq
MIRT1138045	hsa-miR-548e	CLIP-seq
MIRT1138046	hsa-miR-548f	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT2568497	hsa-miR-575	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138051	hsa-miR-769-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	22136275

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12837246
GO:0000132	Process	Establishment of mitotic spindle orientation	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0005515	Function	Protein binding	IPI	18660752, 19287395, 28514442, 33961781
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0042802	Function	Identical protein binding	IPI	18660752
GO:0046605	Process	Regulation of centrosome cycle	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0060348	Process	Bone development	IEA
GO:0060623	Process	Regulation of chromosome condensation	IEA
GO:0071539	Process	Protein localization to centrosome	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEA

Other IDs

• MIM: 607117
• HGNC: 6954
• e!Ensembl: ENSG00000147316

Protein

• UniProt ID: Q8NEM0
• Protein name: Microcephalin
• Protein function: Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex. {ECO:0000269|PubMed:12046007, ECO:0000269|PubMed:15199523, ECO:0000269|PubMed:152
• PDB: 2WT8, 3KTF, 3PA6, 3SHT, 3SHV, 3SZM, 3T1N, 3U3Z, 7C5D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12738	PTCB-BRCT	9 → 75	twin BRCT domain	Family
  PF12258	Microcephalin	225 → 607	Microcephalin protein	Family
  PF16589	BRCT_2	752 → 832	BRCT domain, a BRCA1 C-terminus domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal brain, liver and kidney. {ECO:0000269|PubMed:12046007}.
• Sequence:

  MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFNKQVTHVIFKDGYQSTW
  DKAQKRGVKLVSVLWVEKCRTAGAHIDESLFPAANMNEHLSSLIKKKRKCMQPKDFNFKT
  PENDKRFQKKFEKMAKELQRQKTNLDDDVPILLFESNGSLIYTPTIEINSRHHSAMEKRL
  QEMKEKRENLSPTSSQMIQQSHDNPSNSLCEAPLNISRDTLCSDEYFAGGLHSSFDDLCG
  NSGCGNQERKLEGSINDIKSDVCISSLVLKANNIHSSPSFTHLDKSSPQKFLSNLSKEEI
  NLQRNIAGKVVTPDQKQAAGMSQETFEEKYRLSPTLSSTKGHLLIHSRPRSSSVKRKRVS
  HGSHSPPKEKCKRKRSTRRSIMPRLQLCRSEDRLQHVAGPALEALSCGESSYDDYFSPDN
  LKERYSENLPPESQLPSSPAQLSCRSLSKKERTSIFEMSDFSCVGKKTRTVDITNFTAKT
  ISSPRKTGNGEGRATSSCVTSAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDD
  DLTPLEGSLEEMKEAVGLKSTQNKGTTSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKE
  NLPGGYSGSVKNRPTRHDVLDDSCDGFKDLIKPHEELKKSGRGKKPTRTLVMTSMPSEKQ
  NVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDWVLWSLELG
  HWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVH
  LCGGRVSQVPRQASIVIGPYSGKKKATVKYLSEKWVLDSITQHKVCAPENYLLSQ

• Sequence length: 835

Pathways

Reactome:

Condensation of Prophase Chromosomes

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs199422125	RCV000454240
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs759663956	RCV001814465
Acute myeloid leukemia	Likely pathogenic	rs201721894	RCV005897388
Autosomal recessive primary microcephaly	Likely pathogenic; Pathogenic	rs587783735, rs2129580766, rs369240170, rs975741762, rs1809107219, rs370842740, rs1171432546, rs1803597889, rs387906961, rs1554496609	RCV003486664 RCV002266534 RCV002283367 RCV003155846 RCV003236285 RCV003331594 RCV003487262 RCV004579623 RCV004586022 RCV001193412
MCPH1-related disorder	Likely pathogenic	rs557690276	RCV003405802
Microcephaly 1, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs745702205, rs759663956, rs2129559817, rs587783741, rs587783735, rs2486061046, rs121434305, rs199422125, rs772838513, rs1803966174, rs1225945960, rs1563216932, rs374636201, rs1205842358, rs753597039, rs1488084787, rs387906961, rs755862917, rs1554471681, rs1554496609, rs748011724, rs201721894, rs1809112398, rs1269068071, rs1803595754, rs774692658	RCV001376016 RCV005040309 RCV001782429 RCV000146324 RCV000146285 RCV002283642 RCV000003618 RCV000003619 RCV003142376 RCV005047759 RCV005047783 RCV005047796 RCV005051388 RCV005040547 RCV000023614 RCV000023615 RCV000023616 RCV000023617 RCV000502619 RCV000500097 RCV001507256 RCV000763602 RCV000778861 RCV001197893 RCV001262166 RCV001269296 RCV001507257
See cases	Pathogenic; Likely pathogenic	rs765627692, rs387906961	RCV002287679 RCV002287342

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Benign; Likely benign; Uncertain significance	rs890223, rs17076894, rs41313954, rs751512309	RCV005920534 RCV005890936 RCV005888140 RCV005899798
Cholangiocarcinoma	Benign	rs41313954	RCV005888152
Clear cell carcinoma of kidney	Benign; Likely benign	rs17076894	RCV005890937
Colon adenocarcinoma	Benign; Likely benign	rs17076894, rs41313954	RCV005890934 RCV005888137
Colorectal cancer	Benign	rs41313954	RCV005888145
Familial cancer of breast	Benign	rs2515417	RCV005905818
Familial pancreatic carcinoma	Benign	rs41313954	RCV005888143
Gastric cancer	Benign; Likely benign; Uncertain significance	rs17076894, rs776125109	RCV005890938 RCV005913979
Hepatocellular carcinoma	Benign	rs11137040	RCV005888155
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	rs199861426, rs199700538, rs201599657, rs201120541, rs763881518, rs587783737	RCV001270063 RCV001251832 RCV001251830 RCV001251828 RCV001251829 RCV001251831
Lung cancer	Benign; Likely benign	rs890223, rs17076894, rs41313954	RCV005920536 RCV005890941 RCV005888153
Lymphoma	Benign	rs41313954	RCV005888147
Malignant lymphoma, large B-cell, diffuse	Benign	rs41313954, rs11137040	RCV005888144 RCV005888156
Malignant tumor of esophagus	Benign; Likely benign	rs890223, rs17076894	RCV005920533 RCV005890935
Melanoma	Benign; Uncertain significance	rs41313954, rs779253079	RCV005888151 RCV005898662
Microcephaly	Uncertain significance	rs779924077	RCV001252700
Nonpapillary renal cell carcinoma	Benign	rs41313954	RCV005888139
Ovarian cancer	Benign	rs41313954	RCV005888141
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs17076894, rs41313954	RCV005890939 RCV005888148
Primary Microcephaly, Recessive	Benign; Uncertain significance	rs2305023, rs886063070	RCV000365880 RCV000365757
Sarcoma	Benign; Uncertain significance	rs890223, rs41313954, rs749997244	RCV005920535 RCV005888146 RCV005932036
Short stature	Conflicting classifications of pathogenicity	rs199861426	RCV001270063
Squamous cell carcinoma of the head and neck	Benign; Likely benign	rs770989341	RCV005916091
Thymoma	Benign	rs41313954, rs2515417	RCV005888150 RCV005905820
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs541042265	RCV005899654
Uterine carcinosarcoma	Benign; Likely benign	rs17076894, rs41313954, rs11137040, rs2515417	RCV005890940 RCV005888149 RCV005888157 RCV005905819
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs890223, rs17076894, rs41313954	RCV005920537 RCV005890942 RCV005888154
Uveal melanoma	Benign	rs41313954	RCV005888142

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Kidney Injury	Associate	32680471
Adenocarcinoma of Lung	Associate	24460291
Alzheimer Disease	Associate	21297427, 32193444
Aphasia	Associate	33094427
Ataxia Telangiectasia	Associate	25301947
Autistic Disorder	Associate	18716609, 22139841, 23575222
Autosomal Recessive Primary Microcephaly	Associate	10677332, 15220350, 16217032, 17220170, 17564965, 17925396, 18664457, 18718915, 19525936, 19549900, 21150325, 22139841, 22952573, 23983231, 24830737, 25197360, 28464862, 29026105, 30303738, 30351297, 30859703, 30964711, 32276518, 32735676, 35281599, 9683597
Bipolar Disorder	Associate	30859703
Brain Neoplasms	Associate	26820313
Breast Neoplasms	Associate	18635967, 23729656, 26820313, 30809794, 33809336
Carcinogenesis	Associate	24460291, 27929028
Carcinoma Ovarian Epithelial	Associate	21505456, 24830737
Carcinoma Ovarian Epithelial	Inhibit	29860064
Carcinoma Renal Cell	Associate	25197360
Cerebral Palsy	Associate	23695280
Chromosome Aberrations	Inhibit	16872911
Congenital Abnormalities	Associate	33094427
Deafness oligodontia syndrome	Associate	30950205
Fibrous Dysplasia Polyostotic	Associate	26651848
Genetic Diseases Inborn	Associate	15220350, 17925396
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30306255
Intellectual Disability	Associate	17925396, 18718915, 30500859
Leukemia Lymphocytic Chronic B Cell	Associate	25703238
Lung Neoplasms	Inhibit	24460291
Lymphoma Mantle Cell	Associate	20421449
Microcephaly	Associate	16217032, 19215732, 22240477, 22952573, 30809794, 32735676, 33370873, 35281599
Microcephaly Primary Autosomal Recessive 1	Associate	23983231, 25197360, 30809794, 33370873
Mitral Valve Insufficiency	Associate	35132965
Neoplasm Metastasis	Associate	16872911
Neoplasm Metastasis	Inhibit	30809794
Neoplasms	Inhibit	16872911, 18635967, 23983231, 24460291, 25197360, 25703238, 29860064, 30303738, 30809794
Neoplasms	Associate	21150325, 21505456, 22139841, 23729656, 24830737, 26820313, 27556634, 27929028, 30337515, 32681070
Ovarian Neoplasms	Associate	21505456, 22139841
Pancreatic Neoplasms	Associate	23908141
Pneumonia	Associate	27508494
Primary Graft Dysfunction	Stimulate	18727701
Psychotic Disorders	Associate	30859703
Schizophrenia	Associate	30859703
Seckel syndrome 1	Associate	16217032