SOBP (sine oculis binding protein homolog)

Gene

• Entrez ID: 55084
• Gene name: Sine oculis binding protein homolog
• Gene symbol: SOBP
• Synonyms (NCBI Gene): JXC1, MRAMS
• Chromosome: 6
• Chromosome location: 6q21
• Summary: The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607078	C>T	Pathogenic	Coding sequence variant, stop gained
rs368271940	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016801	hsa-miR-335-5p	Microarray	18185580
MIRT043220	hsa-miR-324-5p	CLASH	23622248
MIRT723626	hsa-miR-3123	HITS-CLIP	19536157
MIRT723625	hsa-miR-8076	HITS-CLIP	19536157
MIRT723624	hsa-miR-4733-5p	HITS-CLIP	19536157
MIRT723623	hsa-miR-218-2-3p	HITS-CLIP	19536157
MIRT723622	hsa-miR-758-5p	HITS-CLIP	19536157
MIRT723621	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT723620	hsa-miR-144-5p	HITS-CLIP	19536157
MIRT723619	hsa-miR-2052	HITS-CLIP	19536157
MIRT723618	hsa-miR-584-5p	HITS-CLIP	19536157
MIRT723617	hsa-miR-599	HITS-CLIP	19536157
MIRT098035	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT098036	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT098037	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT098039	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT098038	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT098040	hsa-miR-302f	PAR-CLIP	21572407
MIRT554070	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT554069	hsa-miR-6757-3p	PAR-CLIP	21572407
MIRT554068	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT554067	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT098032	hsa-miR-4457	PAR-CLIP	21572407
MIRT098030	hsa-miR-125b-2-3p	PAR-CLIP	21572407
MIRT098042	hsa-miR-5187-3p	PAR-CLIP	21572407
MIRT554066	hsa-miR-15b-3p	PAR-CLIP	21572407
MIRT554065	hsa-miR-4424	PAR-CLIP	21572407
MIRT554064	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT098044	hsa-miR-8081	PAR-CLIP	21572407
MIRT439569	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT439570	hsa-miR-487b-3p	HITS-CLIP	24374217
MIRT439569	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT439570	hsa-miR-487b-3p	HITS-CLIP	24374217
MIRT723626	hsa-miR-3123	HITS-CLIP	19536157
MIRT723625	hsa-miR-8076	HITS-CLIP	19536157
MIRT723624	hsa-miR-4733-5p	HITS-CLIP	19536157
MIRT723623	hsa-miR-218-2-3p	HITS-CLIP	19536157
MIRT723622	hsa-miR-758-5p	HITS-CLIP	19536157
MIRT723621	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT723620	hsa-miR-144-5p	HITS-CLIP	19536157
MIRT723619	hsa-miR-2052	HITS-CLIP	19536157
MIRT723618	hsa-miR-584-5p	HITS-CLIP	19536157
MIRT723617	hsa-miR-599	HITS-CLIP	19536157
MIRT098035	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT098036	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT098037	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT098039	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT098038	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT098040	hsa-miR-302f	PAR-CLIP	21572407
MIRT554070	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT554069	hsa-miR-6757-3p	PAR-CLIP	21572407
MIRT554068	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT554067	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT098032	hsa-miR-4457	PAR-CLIP	21572407
MIRT098030	hsa-miR-125b-2-3p	PAR-CLIP	21572407
MIRT098042	hsa-miR-5187-3p	PAR-CLIP	21572407
MIRT554066	hsa-miR-15b-3p	PAR-CLIP	21572407
MIRT554065	hsa-miR-4424	PAR-CLIP	21572407
MIRT554064	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT098044	hsa-miR-8081	PAR-CLIP	21572407
MIRT1378459	hsa-miR-1236	CLIP-seq
MIRT1378460	hsa-miR-1269	CLIP-seq
MIRT1378461	hsa-miR-1269b	CLIP-seq
MIRT1378462	hsa-miR-1273f	CLIP-seq
MIRT1378463	hsa-miR-135a	CLIP-seq
MIRT1378464	hsa-miR-135b	CLIP-seq
MIRT1378465	hsa-miR-143	CLIP-seq
MIRT1378466	hsa-miR-203	CLIP-seq
MIRT1378467	hsa-miR-2054	CLIP-seq
MIRT1378468	hsa-miR-296-3p	CLIP-seq
MIRT1378469	hsa-miR-3150b-3p	CLIP-seq
MIRT1378470	hsa-miR-342-5p	CLIP-seq
MIRT1378471	hsa-miR-3607-3p	CLIP-seq
MIRT1378472	hsa-miR-3613-3p	CLIP-seq
MIRT1378473	hsa-miR-3686	CLIP-seq
MIRT1378474	hsa-miR-3936	CLIP-seq
MIRT1378475	hsa-miR-409-3p	CLIP-seq
MIRT1378476	hsa-miR-4270	CLIP-seq
MIRT1378477	hsa-miR-432	CLIP-seq
MIRT1378478	hsa-miR-4441	CLIP-seq
MIRT1378479	hsa-miR-4529-3p	CLIP-seq
MIRT1378480	hsa-miR-4664-5p	CLIP-seq
MIRT1378481	hsa-miR-4708-5p	CLIP-seq
MIRT1378482	hsa-miR-4712-3p	CLIP-seq
MIRT1378483	hsa-miR-4753-3p	CLIP-seq
MIRT1378484	hsa-miR-4768-5p	CLIP-seq
MIRT1378485	hsa-miR-4770	CLIP-seq
MIRT1378486	hsa-miR-4775	CLIP-seq
MIRT1378487	hsa-miR-4778-3p	CLIP-seq
MIRT1378488	hsa-miR-4784	CLIP-seq
MIRT1378489	hsa-miR-539	CLIP-seq
MIRT1378490	hsa-miR-548aa	CLIP-seq
MIRT1378491	hsa-miR-590-3p	CLIP-seq
MIRT1378492	hsa-miR-873	CLIP-seq
MIRT1553919	hsa-miR-1908	CLIP-seq
MIRT1553920	hsa-miR-3151	CLIP-seq
MIRT1553921	hsa-miR-3180	CLIP-seq
MIRT1553922	hsa-miR-3180-3p	CLIP-seq
MIRT1553923	hsa-miR-3196	CLIP-seq
MIRT1553924	hsa-miR-3690	CLIP-seq
MIRT1553925	hsa-miR-4265	CLIP-seq
MIRT1553926	hsa-miR-4296	CLIP-seq
MIRT1553927	hsa-miR-4322	CLIP-seq
MIRT1553928	hsa-miR-4447	CLIP-seq
MIRT1553929	hsa-miR-4472	CLIP-seq
MIRT1553930	hsa-miR-491-5p	CLIP-seq
MIRT1553931	hsa-miR-619	CLIP-seq
MIRT1553932	hsa-miR-663	CLIP-seq
MIRT1553933	hsa-miR-711	CLIP-seq
MIRT2112924	hsa-miR-1254	CLIP-seq
MIRT2112925	hsa-miR-1293	CLIP-seq
MIRT2112926	hsa-miR-1324	CLIP-seq
MIRT2112927	hsa-miR-140-3p	CLIP-seq
MIRT1378465	hsa-miR-143	CLIP-seq
MIRT2112928	hsa-miR-144	CLIP-seq
MIRT2112929	hsa-miR-1976	CLIP-seq
MIRT2112930	hsa-miR-2467-5p	CLIP-seq
MIRT2112931	hsa-miR-3074-5p	CLIP-seq
MIRT2112932	hsa-miR-3116	CLIP-seq
MIRT1378469	hsa-miR-3150b-3p	CLIP-seq
MIRT2112933	hsa-miR-3156-5p	CLIP-seq
MIRT1553921	hsa-miR-3180	CLIP-seq
MIRT1553922	hsa-miR-3180-3p	CLIP-seq
MIRT2112934	hsa-miR-3184	CLIP-seq
MIRT2112935	hsa-miR-3188	CLIP-seq
MIRT1553923	hsa-miR-3196	CLIP-seq
MIRT2112936	hsa-miR-3650	CLIP-seq
MIRT2112937	hsa-miR-370	CLIP-seq
MIRT2112938	hsa-miR-3975	CLIP-seq
MIRT1378475	hsa-miR-409-3p	CLIP-seq
MIRT2112939	hsa-miR-423-5p	CLIP-seq
MIRT1378476	hsa-miR-4270	CLIP-seq
MIRT1378478	hsa-miR-4441	CLIP-seq
MIRT2112940	hsa-miR-4483	CLIP-seq
MIRT2112941	hsa-miR-4522	CLIP-seq
MIRT2112942	hsa-miR-4530	CLIP-seq
MIRT2112943	hsa-miR-4649-3p	CLIP-seq
MIRT2112944	hsa-miR-4663	CLIP-seq
MIRT2112945	hsa-miR-4722-3p	CLIP-seq
MIRT1378485	hsa-miR-4770	CLIP-seq
MIRT1378487	hsa-miR-4778-3p	CLIP-seq
MIRT2112946	hsa-miR-4779	CLIP-seq
MIRT1378488	hsa-miR-4784	CLIP-seq
MIRT2112947	hsa-miR-485-5p	CLIP-seq
MIRT2112948	hsa-miR-545	CLIP-seq
MIRT1378490	hsa-miR-548aa	CLIP-seq
MIRT2112949	hsa-miR-629	CLIP-seq
MIRT2112950	hsa-miR-661	CLIP-seq
MIRT2112951	hsa-miR-758	CLIP-seq
MIRT2112952	hsa-miR-922	CLIP-seq
MIRT2335833	hsa-miR-1229	CLIP-seq
MIRT1378462	hsa-miR-1273f	CLIP-seq
MIRT2112926	hsa-miR-1324	CLIP-seq
MIRT2335834	hsa-miR-133a	CLIP-seq
MIRT2335835	hsa-miR-133b	CLIP-seq
MIRT2112928	hsa-miR-144	CLIP-seq
MIRT1553919	hsa-miR-1908	CLIP-seq
MIRT2335836	hsa-miR-2861	CLIP-seq
MIRT1553920	hsa-miR-3151	CLIP-seq
MIRT2335837	hsa-miR-3154	CLIP-seq
MIRT1553921	hsa-miR-3180	CLIP-seq
MIRT1553922	hsa-miR-3180-3p	CLIP-seq
MIRT2335838	hsa-miR-3180-5p	CLIP-seq
MIRT2335839	hsa-miR-3189-3p	CLIP-seq
MIRT1553923	hsa-miR-3196	CLIP-seq
MIRT2335840	hsa-miR-362-5p	CLIP-seq
MIRT1553924	hsa-miR-3690	CLIP-seq
MIRT2335841	hsa-miR-421	CLIP-seq
MIRT2335842	hsa-miR-4277	CLIP-seq
MIRT1553928	hsa-miR-4447	CLIP-seq
MIRT1553929	hsa-miR-4472	CLIP-seq
MIRT2335843	hsa-miR-4761-3p	CLIP-seq
MIRT1553930	hsa-miR-491-5p	CLIP-seq
MIRT2335844	hsa-miR-500b	CLIP-seq
MIRT2335845	hsa-miR-520a-5p	CLIP-seq
MIRT2335846	hsa-miR-525-5p	CLIP-seq
MIRT2335847	hsa-miR-548m	CLIP-seq
MIRT1553931	hsa-miR-619	CLIP-seq
MIRT1553932	hsa-miR-663	CLIP-seq
MIRT2335848	hsa-miR-665	CLIP-seq
MIRT1553933	hsa-miR-711	CLIP-seq
MIRT2335833	hsa-miR-1229	CLIP-seq
MIRT2630112	hsa-miR-1262	CLIP-seq
MIRT2630113	hsa-miR-1323	CLIP-seq
MIRT2630114	hsa-miR-2681	CLIP-seq
MIRT2335836	hsa-miR-2861	CLIP-seq
MIRT2630115	hsa-miR-338-5p	CLIP-seq
MIRT2112941	hsa-miR-4522	CLIP-seq
MIRT2630116	hsa-miR-4701-3p	CLIP-seq
MIRT2630117	hsa-miR-4714-5p	CLIP-seq
MIRT2630118	hsa-miR-494	CLIP-seq
MIRT2630119	hsa-miR-548o	CLIP-seq
MIRT2335848	hsa-miR-665	CLIP-seq
MIRT2630112	hsa-miR-1262	CLIP-seq
MIRT2630114	hsa-miR-2681	CLIP-seq
MIRT2630116	hsa-miR-4701-3p	CLIP-seq
MIRT2630118	hsa-miR-494	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0032184	Function	SUMO polymer binding	IEA
GO:0042472	Process	Inner ear morphogenesis	IBA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IBA
GO:0050890	Process	Cognition	IMP	21035105
GO:0090102	Process	Cochlea development	IEA

Other IDs

• MIM: 613667
• HGNC: 29256
• e!Ensembl: ENSG00000112320

Protein

• UniProt ID: A7XYQ1
• Protein name: Sine oculis-binding protein homolog (Jackson circler protein 1)
• Protein function: Implicated in development of the cochlea.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15279	SOBP	224 → 543	Sine oculis-binding protein	Family

• Sequence:

  MAEMEKEGRPPENKRSRKPAHPVKREINEEMKNFAENTMNELLGWYGYDKVELKDGEDIE
  FRSYPTDGESRQHISVLKENSLPKPKLPEDSVISPYNISTGYSGLATGNGLSDSPAGSKD
  HGSVPIIVPLIPPPFIKPPAEDDVSNVQIMCAWCQKVGIKRYSLSMGSEVKSFCSEKCFA
  ACRRAYFKRNKARDEDGHAENFPQQHYAKETPRLAFKNNCELLVCDWCKHIRHTKEYLDF
  GDGERRLQFCSAKCLNQYKMDIFYKETQANLPAGLCSTLHPPMENKAEGTGVQLLTPDSW
  NIPLTDARRKAPSPVATAGQSQGPGPSASTTVSPSDTANCSVTKIPTPVPKSIPISETPN
  IPPVSVQPPASIGPPLGVPPRSPPMVMTNRGPVPLPIFMEQQIMQQIRPPFIRGPPHHAS
  NPNSPLSNPMLPGIGPPPGGPRNLGPTSSPMHRPMLSPHIHPPSTPTMPGNPPGLLPPPP
  PGAPLPSLPFPPVSMMPNGPMPVPQMMNFGLPSLAPLVPPPTLLVPYPVIVPLPVPIPIP
  IPIPHVSDSKPPNGFSSNGENFIPNAPGDSAAAGGKPSGHSLSPRDSKQGSSKSADSPPG
  CSGQALSLAPTPAEHGRSEVVDLTRRAGSPPGPPGAGGQLGFPGVLQGPQDGVIDLTVGH
  RARLHNVIHRALHAHVKAEREPSAAERRTCGGCRDGHCSPPAAGDPGPGAPAGPEAAAAC
  NVIVNGTRGAAAEGAKSAEPPPEQPPPPPPPAPPKKLLSPEEPAVSELESVKENNCASNC
  HLDGEAAKKLMGEEALAGGDKSDPNLNNPADEDHAYALRMLPKTGCVIQPVPKPAEKAAM
  APCIISSPMLSAGPEDLEPPLKRRCLRIRNQNK

• Sequence length: 873

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Intellectual disability, anterior maxillary protrusion, and strabismus	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign; no classifications from unflagged records	rs761098848, rs774870156, rs368271940, rs9486659, rs374186706, rs201319446, rs369211430, rs267607078, rs200685194, rs1770953615	RCV001333985 RCV001333986 RCV001333984 RCV001808344 RCV002227808 RCV000765863 RCV002500595 RCV000000003 RCV000765864 RCV001291816
SOBP-related disorder	Likely benign; Uncertain significance; Benign	rs541688197, rs201319446, rs199834185, rs1653519439, rs571214895, rs774801789, rs377096838	RCV003911028 RCV003907707 RCV003906605 RCV003903820 RCV003937361 RCV003939589 RCV003960184 RCV003940642

Associations from Text Mining
Disease Name	Relationship Type	References
Ovarian Neoplasms	Associate	33742531