Gene Ontology Annotations Click to see Annotation Detail View
Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | biological_process | involved_in | ND | | 150520179 | | UniProt | GO_REF:0000015 | |
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Gene Ontology Annotations Click to see Annotation Detail View
Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | biological_process | involved_in | ND | | 150520179 | | UniProt | GO_REF:0000015 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:12975309 | PMID:14702039 | PMID:16890402 | PMID:21454693 | PMID:21873635 | PMID:32296183 |
IGFL2 (Homo sapiens - human) |
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IGFL2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Variants in IGFL2
13 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1 | copy number loss | See cases [RCV000050710] | Chr19:45595873..46600026 [GRCh38] Chr19:46099131..47103283 [GRCh37] Chr19:50790971..51795123 [NCBI36] Chr19:19q13.32 |
pathogenic |
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 | copy number gain | See cases [RCV000136578] | Chr19:44971420..48257402 [GRCh38] Chr19:45474677..48760659 [GRCh37] Chr19:50166517..53452471 [NCBI36] Chr19:19q13.32-13.33 |
pathogenic |
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 | copy number loss | See cases [RCV000137832] | Chr19:45387389..46831000 [GRCh38] Chr19:45890647..47334257 [GRCh37] Chr19:50582487..52026097 [NCBI36] Chr19:19q13.32 |
likely pathogenic |
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 | copy number loss | See cases [RCV000240182] | Chr19:43013365..47241534 [GRCh37] Chr19:19q13.2-13.32 |
pathogenic |
GRCh37/hg19 19q13.32(chr19:46638760-46743231)x3 | copy number gain | not provided [RCV000762780] | Chr19:46638760..46743231 [GRCh37] Chr19:19q13.32 |
likely benign |
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 | copy number loss | See cases [RCV000511362] | Chr19:46404248..48488721 [GRCh37] Chr19:19q13.32-13.33 |
likely pathogenic |
NM_001135113.2(IGFL2):c.80C>T (p.Ala27Val) | single nucleotide variant | not specified [RCV004283788] | Chr19:46160620 [GRCh38] Chr19:46663877 [GRCh37] Chr19:19q13.32 |
likely benign |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_207393.2(IGFL3):c.128G>A (p.Cys43Tyr) | single nucleotide variant | not specified [RCV004309468] | Chr19:46124108 [GRCh38] Chr19:46627365 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.32T>C (p.Val11Ala) | single nucleotide variant | not specified [RCV004305817] | Chr19:46124315 [GRCh38] Chr19:46627572 [GRCh37] Chr19:19q13.32 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 | copy number gain | not provided [RCV001007050] | Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42 |
pathogenic |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 | copy number gain | not provided [RCV000845733] | Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 | copy number gain | not provided [RCV001007051] | Chr19:45531056..48174177 [GRCh37] Chr19:19q13.32-13.33 |
uncertain significance |
GRCh37/hg19 19q13.32(chr19:46645877-46868805)x1 | copy number loss | not provided [RCV001259942] | Chr19:46645877..46868805 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.316T>G (p.Cys106Gly) | single nucleotide variant | not specified [RCV004162902] | Chr19:46123920 [GRCh38] Chr19:46627177 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_001135113.2(IGFL2):c.61A>G (p.Arg21Gly) | single nucleotide variant | not specified [RCV004092087] | Chr19:46160456 [GRCh38] Chr19:46663713 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.257C>T (p.Ser86Phe) | single nucleotide variant | not specified [RCV004145519] | Chr19:46123979 [GRCh38] Chr19:46627236 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.316T>C (p.Cys106Arg) | single nucleotide variant | not specified [RCV004108777] | Chr19:46123920 [GRCh38] Chr19:46627177 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_001135113.2(IGFL2):c.223T>C (p.Cys75Arg) | single nucleotide variant | not specified [RCV004075531] | Chr19:46160763 [GRCh38] Chr19:46664020 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.217T>G (p.Cys73Gly) | single nucleotide variant | not specified [RCV004231877] | Chr19:46124019 [GRCh38] Chr19:46627276 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.116C>T (p.Pro39Leu) | single nucleotide variant | not specified [RCV004257445] | Chr19:46124120 [GRCh38] Chr19:46627377 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_001135113.2(IGFL2):c.55T>A (p.Cys19Ser) | single nucleotide variant | not specified [RCV004344178] | Chr19:46160450 [GRCh38] Chr19:46663707 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_001135113.2(IGFL2):c.266A>G (p.Asp89Gly) | single nucleotide variant | not specified [RCV004402525] | Chr19:46160806 [GRCh38] Chr19:46664063 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_001135113.2(IGFL2):c.350G>A (p.Arg117His) | single nucleotide variant | not specified [RCV004402526] | Chr19:46161078 [GRCh38] Chr19:46664335 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.215C>A (p.Thr72Asn) | single nucleotide variant | not specified [RCV004402527] | Chr19:46124021 [GRCh38] Chr19:46627278 [GRCh37] Chr19:19q13.32 |
likely benign |
NM_207393.2(IGFL3):c.268C>A (p.Gln90Lys) | single nucleotide variant | not specified [RCV004402528] | Chr19:46123968 [GRCh38] Chr19:46627225 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.344G>A (p.Cys115Tyr) | single nucleotide variant | not specified [RCV004402529] | Chr19:46123892 [GRCh38] Chr19:46627149 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.82G>A (p.Ala28Thr) | single nucleotide variant | not specified [RCV004402530] | Chr19:46124154 [GRCh38] Chr19:46627411 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_001135113.2(IGFL2):c.166G>A (p.Ala56Thr) | single nucleotide variant | not specified [RCV004344454] | Chr19:46160706 [GRCh38] Chr19:46663963 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_207393.2(IGFL3):c.11G>A (p.Arg4Gln) | single nucleotide variant | not specified [RCV004288273] | Chr19:46124639 [GRCh38] Chr19:46627896 [GRCh37] Chr19:19q13.32 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RH92919 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 35 | 1 | 12 | 7 | 1 | 3 | 1275 | 2 | 4 | 269 | 30 | 6 | 34 | 688 | 1 | |
Low | 250 | 166 | 234 | 56 | 70 | 25 | 471 | 28 | 846 | 33 | 374 | 209 | 36 | 329 | 378 | 2 |
Below cutoff | 1640 | 1878 | 712 | 260 | 854 | 152 | 1779 | 1319 | 2521 | 146 | 543 | 771 | 113 | 581 | 1255 | 2 |
RefSeq Acc Id: | ENST00000377693 ⟹ ENSP00000366922 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000434646 ⟹ ENSP00000395219 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000593592 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000600243 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000601052 ⟹ ENSP00000471085 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001002915 ⟹ NP_001002915 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001135113 ⟹ NP_001128585 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024451381 ⟹ XP_024307149 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047438227 ⟹ XP_047294183 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047438228 ⟹ XP_047294184 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054319899 ⟹ XP_054175874 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054319900 ⟹ XP_054175875 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054319901 ⟹ XP_054175876 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054319902 ⟹ XP_054175877 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054319903 ⟹ XP_054175878 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054319904 ⟹ XP_054175879 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054319905 ⟹ XP_054175880 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_001753604 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001753605 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002958257 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002958269 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002958271 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_007066604 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066605 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066606 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066607 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066608 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066609 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066610 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066611 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066612 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066613 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066614 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066615 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066616 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007066617 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007089175 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485088 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485089 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485090 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485091 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485092 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485093 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485094 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485095 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485096 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485097 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485098 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485099 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485100 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485101 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485102 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485103 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485104 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_935743 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_001002915 ⟸ NM_001002915 |
- Peptide Label: | isoform a |
- UniProtKB: | Q6UWQ7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001128585 ⟸ NM_001135113 |
- Peptide Label: | isoform b precursor |
- UniProtKB: | E9PAV1 (UniProtKB/Swiss-Prot), Q6B9Z3 (UniProtKB/Swiss-Prot), Q6UWQ7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_024307149 ⟸ XM_024451381 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | ENSP00000366922 ⟸ ENST00000377693 |
RefSeq Acc Id: | ENSP00000471085 ⟸ ENST00000601052 |
RefSeq Acc Id: | ENSP00000395219 ⟸ ENST00000434646 |
RefSeq Acc Id: | XP_047294184 ⟸ XM_047438228 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047294183 ⟸ XM_047438227 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054175874 ⟸ XM_054319899 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054175879 ⟸ XM_054319904 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054175875 ⟸ XM_054319900 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054175880 ⟸ XM_054319905 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054175876 ⟸ XM_054319901 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054175878 ⟸ XM_054319903 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054175877 ⟸ XM_054319902 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6UWQ7-F1-model_v2 | AlphaFold | Q6UWQ7 | 1-119 | view protein structure |
RGD ID: | 12914155 | ||||||||
Promoter ID: | EPDNEW_H25989 | ||||||||
Type: | initiation region | ||||||||
Name: | IGFL2_1 | ||||||||
Description: | IGF like family member 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:32929 | AgrOrtholog |
COSMIC | IGFL2 | COSMIC |
Ensembl Genes | ENSG00000204866 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000377693 | ENTREZGENE |
ENST00000377693.5 | UniProtKB/Swiss-Prot | |
ENST00000434646 | ENTREZGENE | |
ENST00000434646.6 | UniProtKB/Swiss-Prot | |
ENST00000601052.1 | UniProtKB/TrEMBL | |
GTEx | ENSG00000204866 | GTEx |
HGNC ID | HGNC:32929 | ENTREZGENE |
Human Proteome Map | IGFL2 | Human Proteome Map |
InterPro | IGFL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:147920 | UniProtKB/Swiss-Prot |
NCBI Gene | 147920 | ENTREZGENE |
OMIM | 610545 | OMIM |
PANTHER | INSULIN GROWTH FACTOR-LIKE FAMILY MEMBER 2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR34827 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | IGFL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA147357935 | PharmGKB |
UniProt | E9PAV1 | ENTREZGENE |
IGFL2_HUMAN | UniProtKB/Swiss-Prot | |
M0R089_HUMAN | UniProtKB/TrEMBL | |
Q6B9Z3 | ENTREZGENE | |
Q6UWQ7 | ENTREZGENE | |
UniProt Secondary | E9PAV1 | UniProtKB/Swiss-Prot |
Q6B9Z3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2023-03-23 | IGFL2 | IGF like family member 2 | LOC124908086 | uncharacterized LOC124908086 | Data merged from RGD:151674130 | 737654 | PROVISIONAL |
2015-11-24 | IGFL2 | IGF like family member 2 | IGFL2 | IGF-like family member 2 | Symbol and/or name change | 5135510 | APPROVED |