CFAP410 - cilia and flagella associated protein 410-BMKCloudï½ç¾è¿å®¢äº

100621858 CFAP410

基因描述

Type	Description
Definition	cilia and flagella associated protein 410

研究结论

Date	Results	Publications
2016-03-26 11:46:00	This retinal dystrophy phenotype is caused by recessive mutations in C21orf2 and can be considered a retinal ciliopathy as C21orf2 encodes a protein that localises to photoreceptor ciliary structures.	26294103

名称对应

Type	IDs
Synonymous	C13H21orf2
Gene
Nucleutide sequences
Protein sequencees	RefSeq: XP_020927171.1, XP_020927170.1
Others

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{{proteinIndex+1}}	mRNA	Protein	UniprotKB	Description
Refseq	{{protein.nucleotideVersion}} Ensembl: {{protein.nucleotideEnsembl}}	{{protein.proteinVersion}} Ensembl: {{protein.proteinEnsembl}}	{{uniprot}}	Definition: {{{protein.definition}}} Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}}
Location	( {{protein.positionStart}}..{{protein.positionEnd}} )
Conserved domain	Region: {{conservedDomain.region == '' \|\| conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' \|\| conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' \|\| conservedDomain.family == null ? "-": conservedDomain.family}} CDD:	{{conservedDomain.comments == '' \|\| conservedDomain.comments == null ? "-" : conservedDomain.comments }}	Region: {{conservedDomain.region == '' \|\| conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' \|\| conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' \|\| conservedDomain.family == null ? "-": conservedDomain.family}} CDD:	{{conservedDomain.comments == '' \|\| conservedDomain.comments == null ? "-" : conservedDomain.comments }}

mRNA

Protein

UniprotKB

Description

Refseq

Ensembl: {{protein.nucleotideEnsembl}}

Ensembl: {{protein.proteinEnsembl}}

Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location

( {{protein.positionStart}}..{{protein.positionEnd}} )

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Pubmed编号	文献信息	发表日期	相关基因
26294103	C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. Br J Ophthalmol Arif O Khan , Tobias Eisenberger , Kerstin Nagel-Wolfrum , Uwe Wolfrum , Hanno J Bolz	2015-12-01	-
17145712	PEDE (Pig EST Data Explorer) has been expanded into Pig Expression Data Explorer, including 10 147 porcine full-length cDNA sequences. Nucleic Acids Res. Hirohide Uenishi , Tomoko Eguchi-Ogawa , Hiroki Shinkai , Naohiko Okumura , Kohei Suzuki , Daisuke Toki , Noriyuki Hamasima , Takashi Awata	2007-01-01	SPARCL1, SLA-3, DYNC1H1, SLA-1, P4HA1, DNMT3A, CPE, TNFRSF1B, SLA-DQB1, CD14, APOBEC3F, PDE4B, KCND3, KCNIP2, UIMC1, C9, C8A, C8G, SEPP1, LOC100037968, SLC7A7, PET100, TOMM7, NDUFC1, SLIRP, LOC100037988, COX6C, COX7C, NDUFV2, PSMB7, RPL10A, RPL14, RPL27, RPS21, TMSB10, ATPIF1, RCHY1, CD1E, SEP15, CCL11, CD72, COX6B, RPL4, EIF4E, LGALS3, SNRPE, ZFAND5, SDHD, C5AR1, ABCG8, CYB561, GNAS, RBM39, BRCA1, KRT2, HPS4, BLOC1S5, BLOC1S6, PNPLA3, SRGN, SPTAN1, BIRC6, HPS5, AMPD1, MMP12, MYOT, COL6A3, EIF4E2, PPP2R5A, IFIH1, EIF4A2, EIF4A1, SQLE, CYP39A1, ALG2, BPIFB2, BPIFB5, CYP4F2, SLC44A4, DXO, NIFK, CD1D, SNCG, LNPEP, MUC13, COPS5, SIRT2, SIRT3, RBM38, ANGPTL2, STC2, AQP4, LASS6, CD302, CYP3A46, KRT18, PEX6, CNPY3, MEA1
14681463	PEDE (Pig EST Data Explorer): construction of a database for ESTs derived from porcine full-length cDNA libraries. Nucleic Acids Res. Hirohide Uenishi , Tomoko Eguchi , Kohei Suzuki , Tetsuya Sawazaki , Daisuke Toki , Hiroki Shinkai , Naohiko Okumura , Noriyuki Hamasima , Takashi Awata	2004-01-01	PIK3R6, DESI2, ENPP1, SPARCL1, NREP, SLA-3, IRF7, DYNC1H1, SLA-1, P4HA1, DNMT3A, SEPHS2, SGMS1, CPE, BIN1, TNFRSF1B, SLA-DQB1, CD14, APOBEC3F, PDE4B, KCND3, KCNIP2, UIMC1, LOC100037950, C9, C6, C8A, C8B, C8G, LOC100037957, CAPZA2, CTSB, SEPP1, LOC100037968, SLC7A7, C2H19orf70, ATP5J2, PET100, TOMM7, NDUFC1, SLIRP, LOC100037988, COX6C, COX7C, NDUFV2, PSMB7, RPL10A, RPL14, RPL27, RPS21, RPS26, TMSB10, TPM1, ATPIF1, KLF7, RCHY1, PCD1B, CD1E, SEP15, CCL11, CD72, PVRL2, COX6B, RPS6, CLEC7A, RPL4, EIF4E, LGALS3, SNRPE, ZFAND5, ADSS, SDHD, C5AR1, BTG3, GNA14, NAGS, TNMD, ABCG8, YWHAQ, PGRMC2, CYB561, CNN3, GNAS, RBM39, BRCA1, EDN3, KRT2, HPS4, BLOC1S5, BLOC1S6, RABGGTA, MLPH, ATP7B, CRYZL1, PNPLA3, SRGN, SPTAN1, BIRC6, HPS5

Pubmed编号

文献信息

发表日期

相关基因

26294103

C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.

Br J Ophthalmol Arif O Khan , Tobias Eisenberger , Kerstin Nagel-Wolfrum , Uwe Wolfrum , Hanno J Bolz

2015-12-01

17145712

PEDE (Pig EST Data Explorer) has been expanded into Pig Expression Data Explorer, including 10 147 porcine full-length cDNA sequences.

Nucleic Acids Res. Hirohide Uenishi , Tomoko Eguchi-Ogawa , Hiroki Shinkai , Naohiko Okumura , Kohei Suzuki , Daisuke Toki , Noriyuki Hamasima , Takashi Awata

2007-01-01

SPARCL1, SLA-3, DYNC1H1, SLA-1, P4HA1, DNMT3A, CPE, TNFRSF1B, SLA-DQB1, CD14, APOBEC3F, PDE4B, KCND3, KCNIP2, UIMC1, C9, C8A, C8G, SEPP1, LOC100037968, SLC7A7, PET100, TOMM7, NDUFC1, SLIRP, LOC100037988, COX6C, COX7C, NDUFV2, PSMB7, RPL10A, RPL14, RPL27, RPS21, TMSB10, ATPIF1, RCHY1, CD1E, SEP15, CCL11, CD72, COX6B, RPL4, EIF4E, LGALS3, SNRPE, ZFAND5, SDHD, C5AR1, ABCG8, CYB561, GNAS, RBM39, BRCA1, KRT2, HPS4, BLOC1S5, BLOC1S6, PNPLA3, SRGN, SPTAN1, BIRC6, HPS5, AMPD1, MMP12, MYOT, COL6A3, EIF4E2, PPP2R5A, IFIH1, EIF4A2, EIF4A1, SQLE, CYP39A1, ALG2, BPIFB2, BPIFB5, CYP4F2, SLC44A4, DXO, NIFK, CD1D, SNCG, LNPEP, MUC13, COPS5, SIRT2, SIRT3, RBM38, ANGPTL2, STC2, AQP4, LASS6, CD302, CYP3A46, KRT18, PEX6, CNPY3, MEA1

14681463

PEDE (Pig EST Data Explorer): construction of a database for ESTs derived from porcine full-length cDNA libraries.

Nucleic Acids Res. Hirohide Uenishi , Tomoko Eguchi , Kohei Suzuki , Tetsuya Sawazaki , Daisuke Toki , Hiroki Shinkai , Naohiko Okumura , Noriyuki Hamasima , Takashi Awata

2004-01-01

PIK3R6, DESI2, ENPP1, SPARCL1, NREP, SLA-3, IRF7, DYNC1H1, SLA-1, P4HA1, DNMT3A, SEPHS2, SGMS1, CPE, BIN1, TNFRSF1B, SLA-DQB1, CD14, APOBEC3F, PDE4B, KCND3, KCNIP2, UIMC1, LOC100037950, C9, C6, C8A, C8B, C8G, LOC100037957, CAPZA2, CTSB, SEPP1, LOC100037968, SLC7A7, C2H19orf70, ATP5J2, PET100, TOMM7, NDUFC1, SLIRP, LOC100037988, COX6C, COX7C, NDUFV2, PSMB7, RPL10A, RPL14, RPL27, RPS21, RPS26, TMSB10, TPM1, ATPIF1, KLF7, RCHY1, PCD1B, CD1E, SEP15, CCL11, CD72, PVRL2, COX6B, RPS6, CLEC7A, RPL4, EIF4E, LGALS3, SNRPE, ZFAND5, ADSS, SDHD, C5AR1, BTG3, GNA14, NAGS, TNMD, ABCG8, YWHAQ, PGRMC2, CYB561, CNN3, GNAS, RBM39, BRCA1, EDN3, KRT2, HPS4, BLOC1S5, BLOC1S6, RABGGTA, MLPH, ATP7B, CRYZL1, PNPLA3, SRGN, SPTAN1, BIRC6, HPS5

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