|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q9UHB7 |
| Protein name |
AF4/FMR2 family member 4 (ALL1-fused gene from chromosome 5q31 protein) (Protein AF-5q31) (Major CDK9 elongation factor-associated protein) |
| Protein function |
Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF |
| PDB |
4IMY
, 4OGR
, 4OR5
, 5JW9
, 5L1Z
, 6CYT
, 6K7P
, 6KN5
, 6R80
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF05110 |
AF-4 |
2 → 479 |
|
Family |
| PF18875 |
AF4_int |
714 → 728 |
AF4 interaction motif |
Motif |
| PF18876 |
AF-4_C |
897 → 1162 |
AF-4 proto-oncoprotein C-terminal region |
Family |
|
| Tissue specificity |
TISSUE SPECIFICITY: Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain. {ECO:0000269|PubMed:10588740, ECO:0000269|PubMed:12065898}. |
| Sequence |
|
| Sequence length |
1163 |
| Interactions |
View interactions |
|
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| AFF4-related disorder |
Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign |
rs572126510, rs2150073079, rs145031583, rs780871066, rs2150098319, rs368333989, rs571366609, rs182027704, rs145445063, rs759650836, rs1385541325, rs760426736, rs148886341, rs373239602, rs750323931, rs372786258, rs1411633307, rs959176441, rs780325609, rs1318550187, rs143974944, rs749521715, rs111367848, rs138376057, rs531149803, rs77247092, rs745754457, rs369340003, rs771676566, rs148617173, rs201137637, rs373289956, rs776471901, rs138811630, rs768885773, rs748688812, rs766764087, rs769097556, rs368164320, rs762869731, rs1434666495, rs752156289, rs201536066, rs760715292, rs751472966, rs754241942, rs370085438, rs2532574656, rs1278992253, rs185566992, rs1185916016, rs796481281, rs200579628, rs141402018, rs750031934, rs200186886, rs763176151, rs149367340, rs758176356, rs138207289, rs147739240, rs771044846, rs368373216, rs200076214, rs767370581, rs745359210, rs377650855, rs201192755, rs779261547, rs780415481, rs754955298, rs1760037891, rs1313597311, rs748149682, rs760409554, rs776597233, rs573893392, rs774046938, rs772122883, rs1037906144, rs765464106, rs772993130, rs1483220208, rs754989772, rs886131803, rs771680506, rs913881152, rs377639131, rs780861444, rs768604889, rs755195360, rs772721392, rs1337873803, rs2532472501, rs764563387, rs1047689591, rs371241687, rs374222042, rs746609015, rs753670115, rs200434302, rs757657806, rs375967092, rs765468270, rs758501043, rs943707910, rs764809262, rs372069594, rs1209291017, rs569024443, rs759710714, rs1761371602, rs1162010211, rs546917694, rs761557820, rs759672106, rs762037136, rs375065053, rs138116584, rs188073736, rs145016393, rs139490054, rs375501684, rs200457433, rs139523666, rs141068875, rs192660791, rs147286490, rs146532485, rs200054068, rs747377152, rs369587813, rs369449554, rs186301624, rs1172881579 View all (120 more) |
RCV003393981 RCV005626479 RCV003968619 RCV003416507 RCV004749774 RCV004749769 RCV004749767 RCV003407859 RCV003913455 RCV004749828 RCV004749807 RCV003968637 RCV003913465 RCV004749775 RCV003394285 RCV004749827 RCV004749779 RCV003958429 RCV004749780 RCV004749797 RCV003916276 RCV004729098 RCV003984229 RCV003895859 RCV004749867 RCV003958557 RCV003916353 RCV004749866 RCV003923684 RCV003978640 RCV003941329 RCV003941319 RCV003933621 RCV003978476 RCV004749900 RCV004750257 RCV003898744 RCV004750260 RCV004750265 RCV004750263 RCV004750273 RCV003420347 RCV004750279 RCV003936607 RCV004750297 RCV003410133 RCV003973707 RCV004750296 RCV004749914 RCV004749916 RCV003971348 RCV003926431 RCV004749961 RCV003403950 RCV004750217 RCV003984282 RCV003916634 RCV004750223 RCV003395543 RCV003973594 RCV003926622 RCV003403991 RCV004750241 RCV003936479 RCV004750231 RCV004750309 RCV004750326 RCV003900969 RCV003410311 RCV003919062 RCV003417132 RCV003418745 RCV003402239 RCV003412467 RCV003405992 RCV003410825 RCV003414272 RCV003416959 RCV003416994 RCV003408750 RCV003408760 RCV003393147 RCV004750388 RCV003909023 RCV004750395 RCV004750396 RCV003919303 RCV004750401 RCV004750404 RCV004750407 RCV003919321 RCV004750410 RCV004750419 RCV004750413 RCV004723436 RCV004750421 RCV004750432 RCV004750433 RCV004750454 RCV003892326 RCV003907227 RCV003981635 RCV003983470 RCV003893916 RCV003902243 RCV003904481 RCV003901559 RCV003912251 RCV003897181 RCV003911857 RCV003934563 RCV003962150 RCV003971916 RCV003939575 RCV003947152 RCV003982065 RCV003983606 RCV003969741 RCV003966780 RCV004750462 RCV003401428 RCV003932806 RCV003932807 RCV003975494 RCV003978136 RCV003905809 RCV003935782 RCV003915789 RCV003913195 RCV003905804 RCV003906074 RCV003926243 RCV003940751 RCV003955857 RCV003955858 RCV003902884 RCV004749525 RCV003913190 RCV004749640 |
| Autism spectrum disorder |
Likely benign |
rs1284413202 |
RCV003127367 |
| Colon adenocarcinoma |
Likely benign |
rs752682575 |
RCV005934826 |
| Familial cancer of breast |
Likely benign |
rs373289956 |
RCV005920992 |
| Gastric cancer |
Uncertain significance |
rs778701766 |
RCV005934814 |
| Primary dilated cardiomyopathy |
Uncertain significance |
rs201192755 |
RCV003319245 |
| See cases |
Uncertain significance |
rs2150067522 |
RCV002252481 |
| Thymoma |
Benign |
rs202109434 |
RCV005928006 |
|
| Disease Name |
Relationship Type |
References |
| Breast Neoplasms |
Associate |
32265480 |
| Carcinogenesis |
Associate |
29741610 |
| Carcinoma Pancreatic Ductal |
Associate |
37063434 |
| Cognition Disorders |
Associate |
25730767 |
| De Lange Syndrome |
Associate |
25730767 |
| Epileptic Encephalopathy Early Infantile 3 |
Associate |
25730767 |
| Growth Disorders |
Associate |
25730767 |
| Heart Defects Congenital |
Associate |
25730767 |
| HEM dysplasia |
Associate |
25730767 |
| Hereditary Myopathy with Early Respiratory Failure |
Associate |
25730767 |
| Leukemia |
Associate |
22547686 |
| Leukemia Myeloid Acute |
Associate |
37063434 |
| Neoplasms |
Associate |
22547686, 29741610 |
| Neuroblastoma |
Associate |
36989355 |
| Obesity |
Associate |
25730767, 39743445 |
| Ovarian Neoplasms |
Inhibit |
34686190 |
| Pancreatitis |
Associate |
37063434 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
10588740 |
| Skeletal dysplasia coarse facies mental retardation |
Associate |
25730767 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate |
29741610 |
| Weight Loss |
Associate |
39743445 |
|