| Tag | Content |
|---|---|
| Uniprot ID | Q8BZQ2; Q3U4C7; Q9D2R3; |
| Entrez ID | 78892 |
| Genbank protein ID | EDL11621.1; BAC28498.1; BAB31519.2; BAE32505.1; EDL11622.1; AAH90642.1; |
| Genbank nucleotide ID | XM_006531508.1; XM_006531509.1; NM_030209.4; NM_001310635.1; |
| Ensembl protein ID | ENSMUSP00000104600; ENSMUSP00000034282; ENSMUSP00000122962; |
| Ensembl nucleotide ID | ENSMUSG00000031825 |
| Gene name | Cysteine-rich secretory protein LCCL domain-containing 2 |
| Gene symbol | Crispld2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Promotes matrix assembly. |
| Sequence | MSCLLNNMVL MGLALLVCGV QAFFLPNTTS LEKLLSKYQH AEPHSRVRRA IPMSDRQEIL 60 MLHNKLRGQV YPPASNMEHM TWDEELERSA AAWAHRCLWE HGPAGLLRSI GQNLAVHWGR 120 YRSPGFHVQS WYDEVKDYTY PYPHECTPRC RERCSGPMCT HYTQMVWATT NKIGCAVHTC 180 RNMNVWGDTW ENAVYLVCNY SPKGNWIGEA PYKHGRPCSE CPSSYGGGCL NNLCHRAEKP 240 HKHKPEVDMM NEVESPPAPE ETHVWVQPRV IKTKKTPVIN FMTQVVHCDT KMKDSCKGST 300 CNRYQCPAGC LSNKAKVFGS LFYESSSSIC RAAIHYGVID DRGGLVDVTR NGMVPFFVKS 360 QKNGMESLSK YKPSSSFTVS KVTETAVDCH ATVAQLCPFE KPATHCPRIQ CPARCGEEPS 420 YWAPVYGTNI YADTSSICKA AVHAGVIVDE VGGYADVMPV DKKKSYVGSL RNGVQSESLN 480 TPQNGNAFRI FAVRQ 495 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | CRISPLD2 | 505329 | A6QLZ7 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | CRISPLD2 | 489677 | E2QU10 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | CRISPLD2 | 102186984 | A0A452FWH8 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | CRISPLD2 | 100070252 | A0A3Q2GZC0 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | CRISPLD2 | 83716 | Q9H0B8 | CPO,CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Crispld2 | 78892 | Q8BZQ2 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | CRISPLD2 | 454288 | K7A8K8 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | CRISPLD2 | K7GSW9 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Crispld2 | 171547 | G3V9T1 | Rattus norvegicus | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| CRISPLD2 | rs1546124 | Generation sequencing | 25496823 |
| CRISPLD2 | rs1546124 | PCR-DHPLC | 21800413 |
| CRISPLD2 | rs1546124 | Genotyping | 20815724 |
| CRISPLD2 | rs2326398 | Genotyping | 20815724 |
| CRISPLD2 | rs8061351 | Genotyping | 20815724 |
| CRISPLD2 | rs1546124 | single-marker and haplotype analyses | 20662919 |
| CRISPLD2 | rs4783099 | single-marker and haplotype analyses | 20662919 |
| CRISPLD2 | rs16974880 | single-marker and haplotype analyses | 20662919 |
| CRISPLD2 | rs1546124 | Linkage disequilibrium analysis | 17616516 |
| CRISPLD2 | rs8061351 | Linkage disequilibrium analysis | 17616516 |
| CRISPLD2 | rs2326398 | Linkage disequilibrium analysis | 17616516 |
| CRISPLD2 | c.965C>G; p.T322S | WES and Sanger sequencing | 26449438 |
| CRISPLD2 | rs1546124 | Sequencing | 25496823 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005539 | glycosaminoglycan binding | IDA |
| GO:0005539 | glycosaminoglycan binding | IBA |
| GO:0008201 | heparin binding | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0030198 | extracellular matrix organization | IDA |
| GO:0030324 | lung development | IEA |
| GO:0060325 | face morphogenesis | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005615 | extracellular space | IBA |
| GO:0030133 | transport vesicle | ISO |
| GO:0031012 | extracellular matrix | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-168249 | Innate Immune System | IEA |
| R-MMU-168256 | Immune System | IEA |
| R-MMU-6798695 | Neutrophil degranulation | IEA |